rs160279 - SNP

Select item 1602791.

rs160279 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 5:83539726 (GRCh38)
5:82835545 (GRCh37)
Canonical SPDI:: NC_000005.10:83539725:A:C,NC_000005.10:83539725:A:G
Gene:: VCAN (Varview), VCAN-AS1 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,intron_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.499166/44903 (ALFA)
A=0.34/136 (SGDP_PRJ)
A=0.35/14 (Siberian)
A=0.375/15 (GENOME_DK)
G=0.410423/252 (Vietnamese)
G=0.426621/1250 (KOREAN)
G=0.428493/785 (Korea1K)
A=0.463333/278 (NorthernSweden)
A=0.467105/142 (FINRISK)
G=0.480325/2405 (1000Genomes)
A=0.481492/8070 (TOMMO)
G=0.483493/58403 (ExAC)
G=0.484432/1867 (ALSPAC)
G=0.484967/121044 (GnomAD_exomes)
A=0.485019/259 (MGP)
A=0.486974/486 (GoNL)
G=0.488943/1813 (TWINSUK)
G=0.489955/2195 (Estonian)
A=0.496156/69443 (GnomAD)
G=0.497001/6464 (GoESP)
G=0.498655/131989 (TOPMED)
A=0.5/108 (Qatari)
HGVS:: NC_000005.10:g.83539726A>C, NC_000005.10:g.83539726A>G, NC_000005.9:g.82835545A>C, NC_000005.9:g.82835545A>G, NG_012682.1:g.73016A>C, NG_012682.1:g.73016A>G, NM_004385.5:c.6723A>C, NM_004385.5:c.6723A>G, NM_004385.4:c.6723A>C, NM_004385.4:c.6723A>G, NM_001164097.2:c.3762A>C, NM_001164097.2:c.3762A>G, NM_001164097.1:c.3762A>C, NM_001164097.1:c.3762A>G, NP_004376.2:p.Arg2241Ser, NP_001157569.1:p.Arg1254Ser

Select item 38447432.

rs3844743 has merged into rs160279 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 5:83539726 (GRCh38)
5:82835545 (GRCh37)
Canonical SPDI:: NC_000005.10:83539725:A:C,NC_000005.10:83539725:A:G
Gene:: VCAN (Varview), VCAN-AS1 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,intron_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.499166/44903 (ALFA)
A=0.34/136 (SGDP_PRJ)
A=0.35/14 (Siberian)
A=0.375/15 (GENOME_DK)
G=0.410423/252 (Vietnamese)
G=0.426621/1250 (KOREAN)
G=0.428493/785 (Korea1K)
A=0.463333/278 (NorthernSweden)
A=0.467105/142 (FINRISK)
G=0.480325/2405 (1000Genomes)
A=0.481492/8070 (TOMMO)
G=0.483493/58403 (ExAC)
G=0.484432/1867 (ALSPAC)
G=0.484967/121044 (GnomAD_exomes)
A=0.485019/259 (MGP)
A=0.486974/486 (GoNL)
G=0.488943/1813 (TWINSUK)
G=0.489955/2195 (Estonian)
A=0.496156/69443 (GnomAD)
G=0.497001/6464 (GoESP)
G=0.498655/131989 (TOPMED)
A=0.5/108 (Qatari)
HGVS:: NC_000005.10:g.83539726A>C, NC_000005.10:g.83539726A>G, NC_000005.9:g.82835545A>C, NC_000005.9:g.82835545A>G, NG_012682.1:g.73016A>C, NG_012682.1:g.73016A>G, NM_004385.5:c.6723A>C, NM_004385.5:c.6723A>G, NM_004385.4:c.6723A>C, NM_004385.4:c.6723A>G, NM_001164097.2:c.3762A>C, NM_001164097.2:c.3762A>G, NM_001164097.1:c.3762A>C, NM_001164097.1:c.3762A>G, NP_004376.2:p.Arg2241Ser, NP_001157569.1:p.Arg1254Ser

Select item 37340963.

rs3734096 has merged into rs160279 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 5:83539726 (GRCh38)
5:82835545 (GRCh37)
Canonical SPDI:: NC_000005.10:83539725:A:C,NC_000005.10:83539725:A:G
Gene:: VCAN (Varview), VCAN-AS1 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,intron_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.499166/44903 (ALFA)
A=0.34/136 (SGDP_PRJ)
A=0.35/14 (Siberian)
A=0.375/15 (GENOME_DK)
G=0.410423/252 (Vietnamese)
G=0.426621/1250 (KOREAN)
G=0.428493/785 (Korea1K)
A=0.463333/278 (NorthernSweden)
A=0.467105/142 (FINRISK)
G=0.480325/2405 (1000Genomes)
A=0.481492/8070 (TOMMO)
G=0.483493/58403 (ExAC)
G=0.484432/1867 (ALSPAC)
G=0.484967/121044 (GnomAD_exomes)
A=0.485019/259 (MGP)
A=0.486974/486 (GoNL)
G=0.488943/1813 (TWINSUK)
G=0.489955/2195 (Estonian)
A=0.496156/69443 (GnomAD)
G=0.497001/6464 (GoESP)
G=0.498655/131989 (TOPMED)
A=0.5/108 (Qatari)
HGVS:: NC_000005.10:g.83539726A>C, NC_000005.10:g.83539726A>G, NC_000005.9:g.82835545A>C, NC_000005.9:g.82835545A>G, NG_012682.1:g.73016A>C, NG_012682.1:g.73016A>G, NM_004385.5:c.6723A>C, NM_004385.5:c.6723A>G, NM_004385.4:c.6723A>C, NM_004385.4:c.6723A>G, NM_001164097.2:c.3762A>C, NM_001164097.2:c.3762A>G, NM_001164097.1:c.3762A>C, NM_001164097.1:c.3762A>G, NP_004376.2:p.Arg2241Ser, NP_001157569.1:p.Arg1254Ser

Select item 8718674.

rs871867 has merged into rs160279 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 5:83539726 (GRCh38)
5:82835545 (GRCh37)
Canonical SPDI:: NC_000005.10:83539725:A:C,NC_000005.10:83539725:A:G
Gene:: VCAN (Varview), VCAN-AS1 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,intron_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.499166/44903 (ALFA)
A=0.34/136 (SGDP_PRJ)
A=0.35/14 (Siberian)
A=0.375/15 (GENOME_DK)
G=0.410423/252 (Vietnamese)
G=0.426621/1250 (KOREAN)
G=0.428493/785 (Korea1K)
A=0.463333/278 (NorthernSweden)
A=0.467105/142 (FINRISK)
G=0.480325/2405 (1000Genomes)
A=0.481492/8070 (TOMMO)
G=0.483493/58403 (ExAC)
G=0.484432/1867 (ALSPAC)
G=0.484967/121044 (GnomAD_exomes)
A=0.485019/259 (MGP)
A=0.486974/486 (GoNL)
G=0.488943/1813 (TWINSUK)
G=0.489955/2195 (Estonian)
A=0.496156/69443 (GnomAD)
G=0.497001/6464 (GoESP)
G=0.498655/131989 (TOPMED)
A=0.5/108 (Qatari)
HGVS:: NC_000005.10:g.83539726A>C, NC_000005.10:g.83539726A>G, NC_000005.9:g.82835545A>C, NC_000005.9:g.82835545A>G, NG_012682.1:g.73016A>C, NG_012682.1:g.73016A>G, NM_004385.5:c.6723A>C, NM_004385.5:c.6723A>G, NM_004385.4:c.6723A>C, NM_004385.4:c.6723A>G, NM_001164097.2:c.3762A>C, NM_001164097.2:c.3762A>G, NM_001164097.1:c.3762A>C, NM_001164097.1:c.3762A>G, NP_004376.2:p.Arg2241Ser, NP_001157569.1:p.Arg1254Ser

Select item 3104845.

rs310484 has merged into rs160279 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 5:83539726 (GRCh38)
5:82835545 (GRCh37)
Canonical SPDI:: NC_000005.10:83539725:A:C,NC_000005.10:83539725:A:G
Gene:: VCAN (Varview), VCAN-AS1 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,intron_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.499166/44903 (ALFA)
A=0.34/136 (SGDP_PRJ)
A=0.35/14 (Siberian)
A=0.375/15 (GENOME_DK)
G=0.410423/252 (Vietnamese)
G=0.426621/1250 (KOREAN)
G=0.428493/785 (Korea1K)
A=0.463333/278 (NorthernSweden)
A=0.467105/142 (FINRISK)
G=0.480325/2405 (1000Genomes)
A=0.481492/8070 (TOMMO)
G=0.483493/58403 (ExAC)
G=0.484432/1867 (ALSPAC)
G=0.484967/121044 (GnomAD_exomes)
A=0.485019/259 (MGP)
A=0.486974/486 (GoNL)
G=0.488943/1813 (TWINSUK)
G=0.489955/2195 (Estonian)
A=0.496156/69443 (GnomAD)
G=0.497001/6464 (GoESP)
G=0.498655/131989 (TOPMED)
A=0.5/108 (Qatari)
HGVS:: NC_000005.10:g.83539726A>C, NC_000005.10:g.83539726A>G, NC_000005.9:g.82835545A>C, NC_000005.9:g.82835545A>G, NG_012682.1:g.73016A>C, NG_012682.1:g.73016A>G, NM_004385.5:c.6723A>C, NM_004385.5:c.6723A>G, NM_004385.4:c.6723A>C, NM_004385.4:c.6723A>G, NM_001164097.2:c.3762A>C, NM_001164097.2:c.3762A>G, NM_001164097.1:c.3762A>C, NM_001164097.1:c.3762A>G, NP_004376.2:p.Arg2241Ser, NP_001157569.1:p.Arg1254Ser

dbSNP