rs309559 - SNP

Select item 3095591.

rs309559 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 5:83537550 (GRCh38)
5:82833369 (GRCh37)
Canonical SPDI:: NC_000005.10:83537549:A:C,NC_000005.10:83537549:A:G
Gene:: VCAN (Varview), VCAN-AS1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.497965/155616 (ALFA)
A=0.25/20 (PRJEB36033)
A=0.339901/138 (SGDP_PRJ)
A=0.35/14 (Siberian)
G=0.366751/289 (PRJEB37584)
A=0.375/15 (GENOME_DK)
G=0.410714/253 (Vietnamese)
G=0.424915/1245 (KOREAN)
G=0.428493/785 (Korea1K)
A=0.453184/242 (MGP)
G=0.460317/522 (Daghestan)
A=0.463333/278 (NorthernSweden)
A=0.467105/142 (FINRISK)
G=0.476488/993 (HGDP_Stanford)
G=0.480949/2409 (1000Genomes)
A=0.481421/8069 (TOMMO)
G=0.483995/58454 (ExAC)
G=0.484691/1868 (ALSPAC)
G=0.485324/121133 (GnomAD_exomes)
G=0.486229/918 (HapMap)
A=0.486974/486 (GoNL)
G=0.489482/1815 (TWINSUK)
G=0.490179/2196 (Estonian)
A=0.494464/69135 (GnomAD)
G=0.498616/6485 (GoESP)
G=0.499771/39323 (PAGE_STUDY)
A=0.499853/132306 (TOPMED)
A=0.5/108 (Qatari)
HGVS:: NC_000005.10:g.83537550A>C, NC_000005.10:g.83537550A>G, NC_000005.9:g.82833369A>C, NC_000005.9:g.82833369A>G, NG_012682.1:g.70840A>C, NG_012682.1:g.70840A>G, NM_004385.5:c.4547A>C, NM_004385.5:c.4547A>G, NM_004385.4:c.4547A>C, NM_004385.4:c.4547A>G, NM_001164097.2:c.1586A>C, NM_001164097.2:c.1586A>G, NM_001164097.1:c.1586A>C, NM_001164097.1:c.1586A>G, NP_004376.2:p.Lys1516Thr, NP_004376.2:p.Lys1516Arg, NP_001157569.1:p.Lys529Thr, NP_001157569.1:p.Lys529Arg

PubMed

Select item 590040492.

rs59004049 has merged into rs309559 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 5:83537550 (GRCh38)
5:82833369 (GRCh37)
Canonical SPDI:: NC_000005.10:83537549:A:C,NC_000005.10:83537549:A:G
Gene:: VCAN (Varview), VCAN-AS1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.497965/155616 (ALFA)
A=0.25/20 (PRJEB36033)
A=0.339901/138 (SGDP_PRJ)
A=0.35/14 (Siberian)
G=0.366751/289 (PRJEB37584)
A=0.375/15 (GENOME_DK)
G=0.410714/253 (Vietnamese)
G=0.424915/1245 (KOREAN)
G=0.428493/785 (Korea1K)
A=0.453184/242 (MGP)
G=0.460317/522 (Daghestan)
A=0.463333/278 (NorthernSweden)
A=0.467105/142 (FINRISK)
G=0.476488/993 (HGDP_Stanford)
G=0.480949/2409 (1000Genomes)
A=0.481421/8069 (TOMMO)
G=0.483995/58454 (ExAC)
G=0.484691/1868 (ALSPAC)
G=0.485324/121133 (GnomAD_exomes)
G=0.486229/918 (HapMap)
A=0.486974/486 (GoNL)
G=0.489482/1815 (TWINSUK)
G=0.490179/2196 (Estonian)
A=0.494464/69135 (GnomAD)
G=0.498616/6485 (GoESP)
G=0.499771/39323 (PAGE_STUDY)
A=0.499853/132306 (TOPMED)
A=0.5/108 (Qatari)
HGVS:: NC_000005.10:g.83537550A>C, NC_000005.10:g.83537550A>G, NC_000005.9:g.82833369A>C, NC_000005.9:g.82833369A>G, NG_012682.1:g.70840A>C, NG_012682.1:g.70840A>G, NM_004385.5:c.4547A>C, NM_004385.5:c.4547A>G, NM_004385.4:c.4547A>C, NM_004385.4:c.4547A>G, NM_001164097.2:c.1586A>C, NM_001164097.2:c.1586A>G, NM_001164097.1:c.1586A>C, NM_001164097.1:c.1586A>G, NP_004376.2:p.Lys1516Thr, NP_004376.2:p.Lys1516Arg, NP_001157569.1:p.Lys529Thr, NP_001157569.1:p.Lys529Arg

Select item 172844613.

rs17284461 has merged into rs309559 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 5:83537550 (GRCh38)
5:82833369 (GRCh37)
Canonical SPDI:: NC_000005.10:83537549:A:C,NC_000005.10:83537549:A:G
Gene:: VCAN (Varview), VCAN-AS1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.497965/155616 (ALFA)
A=0.25/20 (PRJEB36033)
A=0.339901/138 (SGDP_PRJ)
A=0.35/14 (Siberian)
G=0.366751/289 (PRJEB37584)
A=0.375/15 (GENOME_DK)
G=0.410714/253 (Vietnamese)
G=0.424915/1245 (KOREAN)
G=0.428493/785 (Korea1K)
A=0.453184/242 (MGP)
G=0.460317/522 (Daghestan)
A=0.463333/278 (NorthernSweden)
A=0.467105/142 (FINRISK)
G=0.476488/993 (HGDP_Stanford)
G=0.480949/2409 (1000Genomes)
A=0.481421/8069 (TOMMO)
G=0.483995/58454 (ExAC)
G=0.484691/1868 (ALSPAC)
G=0.485324/121133 (GnomAD_exomes)
G=0.486229/918 (HapMap)
A=0.486974/486 (GoNL)
G=0.489482/1815 (TWINSUK)
G=0.490179/2196 (Estonian)
A=0.494464/69135 (GnomAD)
G=0.498616/6485 (GoESP)
G=0.499771/39323 (PAGE_STUDY)
A=0.499853/132306 (TOPMED)
A=0.5/108 (Qatari)
HGVS:: NC_000005.10:g.83537550A>C, NC_000005.10:g.83537550A>G, NC_000005.9:g.82833369A>C, NC_000005.9:g.82833369A>G, NG_012682.1:g.70840A>C, NG_012682.1:g.70840A>G, NM_004385.5:c.4547A>C, NM_004385.5:c.4547A>G, NM_004385.4:c.4547A>C, NM_004385.4:c.4547A>G, NM_001164097.2:c.1586A>C, NM_001164097.2:c.1586A>G, NM_001164097.1:c.1586A>C, NM_001164097.1:c.1586A>G, NP_004376.2:p.Lys1516Thr, NP_004376.2:p.Lys1516Arg, NP_001157569.1:p.Lys529Thr, NP_001157569.1:p.Lys529Arg

Select item 169005274.

rs16900527 has merged into rs309559 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 5:83537550 (GRCh38)
5:82833369 (GRCh37)
Canonical SPDI:: NC_000005.10:83537549:A:C,NC_000005.10:83537549:A:G
Gene:: VCAN (Varview), VCAN-AS1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.497965/155616 (ALFA)
A=0.25/20 (PRJEB36033)
A=0.339901/138 (SGDP_PRJ)
A=0.35/14 (Siberian)
G=0.366751/289 (PRJEB37584)
A=0.375/15 (GENOME_DK)
G=0.410714/253 (Vietnamese)
G=0.424915/1245 (KOREAN)
G=0.428493/785 (Korea1K)
A=0.453184/242 (MGP)
G=0.460317/522 (Daghestan)
A=0.463333/278 (NorthernSweden)
A=0.467105/142 (FINRISK)
G=0.476488/993 (HGDP_Stanford)
G=0.480949/2409 (1000Genomes)
A=0.481421/8069 (TOMMO)
G=0.483995/58454 (ExAC)
G=0.484691/1868 (ALSPAC)
G=0.485324/121133 (GnomAD_exomes)
G=0.486229/918 (HapMap)
A=0.486974/486 (GoNL)
G=0.489482/1815 (TWINSUK)
G=0.490179/2196 (Estonian)
A=0.494464/69135 (GnomAD)
G=0.498616/6485 (GoESP)
G=0.499771/39323 (PAGE_STUDY)
A=0.499853/132306 (TOPMED)
A=0.5/108 (Qatari)
HGVS:: NC_000005.10:g.83537550A>C, NC_000005.10:g.83537550A>G, NC_000005.9:g.82833369A>C, NC_000005.9:g.82833369A>G, NG_012682.1:g.70840A>C, NG_012682.1:g.70840A>G, NM_004385.5:c.4547A>C, NM_004385.5:c.4547A>G, NM_004385.4:c.4547A>C, NM_004385.4:c.4547A>G, NM_001164097.2:c.1586A>C, NM_001164097.2:c.1586A>G, NM_001164097.1:c.1586A>C, NM_001164097.1:c.1586A>G, NP_004376.2:p.Lys1516Thr, NP_004376.2:p.Lys1516Arg, NP_001157569.1:p.Lys529Thr, NP_001157569.1:p.Lys529Arg

Select item 39092255.

rs3909225 has merged into rs309559 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 5:83537550 (GRCh38)
5:82833369 (GRCh37)
Canonical SPDI:: NC_000005.10:83537549:A:C,NC_000005.10:83537549:A:G
Gene:: VCAN (Varview), VCAN-AS1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.497965/155616 (ALFA)
A=0.25/20 (PRJEB36033)
A=0.339901/138 (SGDP_PRJ)
A=0.35/14 (Siberian)
G=0.366751/289 (PRJEB37584)
A=0.375/15 (GENOME_DK)
G=0.410714/253 (Vietnamese)
G=0.424915/1245 (KOREAN)
G=0.428493/785 (Korea1K)
A=0.453184/242 (MGP)
G=0.460317/522 (Daghestan)
A=0.463333/278 (NorthernSweden)
A=0.467105/142 (FINRISK)
G=0.476488/993 (HGDP_Stanford)
G=0.480949/2409 (1000Genomes)
A=0.481421/8069 (TOMMO)
G=0.483995/58454 (ExAC)
G=0.484691/1868 (ALSPAC)
G=0.485324/121133 (GnomAD_exomes)
G=0.486229/918 (HapMap)
A=0.486974/486 (GoNL)
G=0.489482/1815 (TWINSUK)
G=0.490179/2196 (Estonian)
A=0.494464/69135 (GnomAD)
G=0.498616/6485 (GoESP)
G=0.499771/39323 (PAGE_STUDY)
A=0.499853/132306 (TOPMED)
A=0.5/108 (Qatari)
HGVS:: NC_000005.10:g.83537550A>C, NC_000005.10:g.83537550A>G, NC_000005.9:g.82833369A>C, NC_000005.9:g.82833369A>G, NG_012682.1:g.70840A>C, NG_012682.1:g.70840A>G, NM_004385.5:c.4547A>C, NM_004385.5:c.4547A>G, NM_004385.4:c.4547A>C, NM_004385.4:c.4547A>G, NM_001164097.2:c.1586A>C, NM_001164097.2:c.1586A>G, NM_001164097.1:c.1586A>C, NM_001164097.1:c.1586A>G, NP_004376.2:p.Lys1516Thr, NP_004376.2:p.Lys1516Arg, NP_001157569.1:p.Lys529Thr, NP_001157569.1:p.Lys529Arg

Select item 37340126.

rs3734012 has merged into rs309559 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 5:83537550 (GRCh38)
5:82833369 (GRCh37)
Canonical SPDI:: NC_000005.10:83537549:A:C,NC_000005.10:83537549:A:G
Gene:: VCAN (Varview), VCAN-AS1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.497965/155616 (ALFA)
A=0.25/20 (PRJEB36033)
A=0.339901/138 (SGDP_PRJ)
A=0.35/14 (Siberian)
G=0.366751/289 (PRJEB37584)
A=0.375/15 (GENOME_DK)
G=0.410714/253 (Vietnamese)
G=0.424915/1245 (KOREAN)
G=0.428493/785 (Korea1K)
A=0.453184/242 (MGP)
G=0.460317/522 (Daghestan)
A=0.463333/278 (NorthernSweden)
A=0.467105/142 (FINRISK)
G=0.476488/993 (HGDP_Stanford)
G=0.480949/2409 (1000Genomes)
A=0.481421/8069 (TOMMO)
G=0.483995/58454 (ExAC)
G=0.484691/1868 (ALSPAC)
G=0.485324/121133 (GnomAD_exomes)
G=0.486229/918 (HapMap)
A=0.486974/486 (GoNL)
G=0.489482/1815 (TWINSUK)
G=0.490179/2196 (Estonian)
A=0.494464/69135 (GnomAD)
G=0.498616/6485 (GoESP)
G=0.499771/39323 (PAGE_STUDY)
A=0.499853/132306 (TOPMED)
A=0.5/108 (Qatari)
HGVS:: NC_000005.10:g.83537550A>C, NC_000005.10:g.83537550A>G, NC_000005.9:g.82833369A>C, NC_000005.9:g.82833369A>G, NG_012682.1:g.70840A>C, NG_012682.1:g.70840A>G, NM_004385.5:c.4547A>C, NM_004385.5:c.4547A>G, NM_004385.4:c.4547A>C, NM_004385.4:c.4547A>G, NM_001164097.2:c.1586A>C, NM_001164097.2:c.1586A>G, NM_001164097.1:c.1586A>C, NM_001164097.1:c.1586A>G, NP_004376.2:p.Lys1516Thr, NP_004376.2:p.Lys1516Arg, NP_001157569.1:p.Lys529Thr, NP_001157569.1:p.Lys529Arg

Select item 5604117.

rs560411 has merged into rs309559 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 5:83537550 (GRCh38)
5:82833369 (GRCh37)
Canonical SPDI:: NC_000005.10:83537549:A:C,NC_000005.10:83537549:A:G
Gene:: VCAN (Varview), VCAN-AS1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.497965/155616 (ALFA)
A=0.25/20 (PRJEB36033)
A=0.339901/138 (SGDP_PRJ)
A=0.35/14 (Siberian)
G=0.366751/289 (PRJEB37584)
A=0.375/15 (GENOME_DK)
G=0.410714/253 (Vietnamese)
G=0.424915/1245 (KOREAN)
G=0.428493/785 (Korea1K)
A=0.453184/242 (MGP)
G=0.460317/522 (Daghestan)
A=0.463333/278 (NorthernSweden)
A=0.467105/142 (FINRISK)
G=0.476488/993 (HGDP_Stanford)
G=0.480949/2409 (1000Genomes)
A=0.481421/8069 (TOMMO)
G=0.483995/58454 (ExAC)
G=0.484691/1868 (ALSPAC)
G=0.485324/121133 (GnomAD_exomes)
G=0.486229/918 (HapMap)
A=0.486974/486 (GoNL)
G=0.489482/1815 (TWINSUK)
G=0.490179/2196 (Estonian)
A=0.494464/69135 (GnomAD)
G=0.498616/6485 (GoESP)
G=0.499771/39323 (PAGE_STUDY)
A=0.499853/132306 (TOPMED)
A=0.5/108 (Qatari)
HGVS:: NC_000005.10:g.83537550A>C, NC_000005.10:g.83537550A>G, NC_000005.9:g.82833369A>C, NC_000005.9:g.82833369A>G, NG_012682.1:g.70840A>C, NG_012682.1:g.70840A>G, NM_004385.5:c.4547A>C, NM_004385.5:c.4547A>G, NM_004385.4:c.4547A>C, NM_004385.4:c.4547A>G, NM_001164097.2:c.1586A>C, NM_001164097.2:c.1586A>G, NM_001164097.1:c.1586A>C, NM_001164097.1:c.1586A>G, NP_004376.2:p.Lys1516Thr, NP_004376.2:p.Lys1516Arg, NP_001157569.1:p.Lys529Thr, NP_001157569.1:p.Lys529Arg

Select item 3104768.

rs310476 has merged into rs309559 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 5:83537550 (GRCh38)
5:82833369 (GRCh37)
Canonical SPDI:: NC_000005.10:83537549:A:C,NC_000005.10:83537549:A:G
Gene:: VCAN (Varview), VCAN-AS1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.497965/155616 (ALFA)
A=0.25/20 (PRJEB36033)
A=0.339901/138 (SGDP_PRJ)
A=0.35/14 (Siberian)
G=0.366751/289 (PRJEB37584)
A=0.375/15 (GENOME_DK)
G=0.410714/253 (Vietnamese)
G=0.424915/1245 (KOREAN)
G=0.428493/785 (Korea1K)
A=0.453184/242 (MGP)
G=0.460317/522 (Daghestan)
A=0.463333/278 (NorthernSweden)
A=0.467105/142 (FINRISK)
G=0.476488/993 (HGDP_Stanford)
G=0.480949/2409 (1000Genomes)
A=0.481421/8069 (TOMMO)
G=0.483995/58454 (ExAC)
G=0.484691/1868 (ALSPAC)
G=0.485324/121133 (GnomAD_exomes)
G=0.486229/918 (HapMap)
A=0.486974/486 (GoNL)
G=0.489482/1815 (TWINSUK)
G=0.490179/2196 (Estonian)
A=0.494464/69135 (GnomAD)
G=0.498616/6485 (GoESP)
G=0.499771/39323 (PAGE_STUDY)
A=0.499853/132306 (TOPMED)
A=0.5/108 (Qatari)
HGVS:: NC_000005.10:g.83537550A>C, NC_000005.10:g.83537550A>G, NC_000005.9:g.82833369A>C, NC_000005.9:g.82833369A>G, NG_012682.1:g.70840A>C, NG_012682.1:g.70840A>G, NM_004385.5:c.4547A>C, NM_004385.5:c.4547A>G, NM_004385.4:c.4547A>C, NM_004385.4:c.4547A>G, NM_001164097.2:c.1586A>C, NM_001164097.2:c.1586A>G, NM_001164097.1:c.1586A>C, NM_001164097.1:c.1586A>G, NP_004376.2:p.Lys1516Thr, NP_004376.2:p.Lys1516Arg, NP_001157569.1:p.Lys529Thr, NP_001157569.1:p.Lys529Arg

dbSNP

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