rs309557 - SNP

Select item 3095571.

rs309557 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:83538811 (GRCh38)
5:82834630 (GRCh37)
Canonical SPDI:: NC_000005.10:83538810:T:C
Gene:: VCAN (Varview), VCAN-AS1 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.495618/90818 (ALFA)
T=0.15625/10 (PRJEB36033)
T=0.340686/139 (SGDP_PRJ)
T=0.35/14 (Siberian)
T=0.375/15 (GENOME_DK)
C=0.408795/251 (Vietnamese)
C=0.425256/1246 (KOREAN)
C=0.428493/785 (Korea1K)
T=0.43633/233 (MGP)
T=0.463333/278 (NorthernSweden)
T=0.467105/142 (FINRISK)
C=0.479076/2399 (1000Genomes)
C=0.480973/910 (HapMap)
T=0.481457/8069 (TOMMO)
C=0.483789/58582 (ExAC)
C=0.485217/121638 (GnomAD_exomes)
C=0.48547/1871 (ALSPAC)
T=0.486974/486 (GoNL)
C=0.489482/1815 (TWINSUK)
C=0.490179/2196 (Estonian)
T=0.495133/69281 (GnomAD)
T=0.49537/107 (Qatari)
C=0.497924/6476 (GoESP)
C=0.499494/132211 (TOPMED)
HGVS:: NC_000005.10:g.83538811T>C, NC_000005.9:g.82834630T>C, NG_012682.1:g.72101T>C, NM_004385.5:c.5808T>C, NM_004385.4:c.5808T>C, NM_001164097.2:c.2847T>C, NM_001164097.1:c.2847T>C

Select item 172844682.

rs17284468 has merged into rs309557 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:83538811 (GRCh38)
5:82834630 (GRCh37)
Canonical SPDI:: NC_000005.10:83538810:T:C
Gene:: VCAN (Varview), VCAN-AS1 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.495618/90818 (ALFA)
T=0.15625/10 (PRJEB36033)
T=0.340686/139 (SGDP_PRJ)
T=0.35/14 (Siberian)
T=0.375/15 (GENOME_DK)
C=0.408795/251 (Vietnamese)
C=0.425256/1246 (KOREAN)
C=0.428493/785 (Korea1K)
T=0.43633/233 (MGP)
T=0.463333/278 (NorthernSweden)
T=0.467105/142 (FINRISK)
C=0.479076/2399 (1000Genomes)
C=0.480973/910 (HapMap)
T=0.481457/8069 (TOMMO)
C=0.483789/58582 (ExAC)
C=0.485217/121638 (GnomAD_exomes)
C=0.48547/1871 (ALSPAC)
T=0.486974/486 (GoNL)
C=0.489482/1815 (TWINSUK)
C=0.490179/2196 (Estonian)
T=0.495133/69281 (GnomAD)
T=0.49537/107 (Qatari)
C=0.497924/6476 (GoESP)
C=0.499494/132211 (TOPMED)
HGVS:: NC_000005.10:g.83538811T>C, NC_000005.9:g.82834630T>C, NG_012682.1:g.72101T>C, NM_004385.5:c.5808T>C, NM_004385.4:c.5808T>C, NM_001164097.2:c.2847T>C, NM_001164097.1:c.2847T>C

Select item 38447423.

rs3844742 has merged into rs309557 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:83538811 (GRCh38)
5:82834630 (GRCh37)
Canonical SPDI:: NC_000005.10:83538810:T:C
Gene:: VCAN (Varview), VCAN-AS1 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.495618/90818 (ALFA)
T=0.15625/10 (PRJEB36033)
T=0.340686/139 (SGDP_PRJ)
T=0.35/14 (Siberian)
T=0.375/15 (GENOME_DK)
C=0.408795/251 (Vietnamese)
C=0.425256/1246 (KOREAN)
C=0.428493/785 (Korea1K)
T=0.43633/233 (MGP)
T=0.463333/278 (NorthernSweden)
T=0.467105/142 (FINRISK)
C=0.479076/2399 (1000Genomes)
C=0.480973/910 (HapMap)
T=0.481457/8069 (TOMMO)
C=0.483789/58582 (ExAC)
C=0.485217/121638 (GnomAD_exomes)
C=0.48547/1871 (ALSPAC)
T=0.486974/486 (GoNL)
C=0.489482/1815 (TWINSUK)
C=0.490179/2196 (Estonian)
T=0.495133/69281 (GnomAD)
T=0.49537/107 (Qatari)
C=0.497924/6476 (GoESP)
C=0.499494/132211 (TOPMED)
HGVS:: NC_000005.10:g.83538811T>C, NC_000005.9:g.82834630T>C, NG_012682.1:g.72101T>C, NM_004385.5:c.5808T>C, NM_004385.4:c.5808T>C, NM_001164097.2:c.2847T>C, NM_001164097.1:c.2847T>C

Select item 37340134.

rs3734013 has merged into rs309557 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:83538811 (GRCh38)
5:82834630 (GRCh37)
Canonical SPDI:: NC_000005.10:83538810:T:C
Gene:: VCAN (Varview), VCAN-AS1 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.495618/90818 (ALFA)
T=0.15625/10 (PRJEB36033)
T=0.340686/139 (SGDP_PRJ)
T=0.35/14 (Siberian)
T=0.375/15 (GENOME_DK)
C=0.408795/251 (Vietnamese)
C=0.425256/1246 (KOREAN)
C=0.428493/785 (Korea1K)
T=0.43633/233 (MGP)
T=0.463333/278 (NorthernSweden)
T=0.467105/142 (FINRISK)
C=0.479076/2399 (1000Genomes)
C=0.480973/910 (HapMap)
T=0.481457/8069 (TOMMO)
C=0.483789/58582 (ExAC)
C=0.485217/121638 (GnomAD_exomes)
C=0.48547/1871 (ALSPAC)
T=0.486974/486 (GoNL)
C=0.489482/1815 (TWINSUK)
C=0.490179/2196 (Estonian)
T=0.495133/69281 (GnomAD)
T=0.49537/107 (Qatari)
C=0.497924/6476 (GoESP)
C=0.499494/132211 (TOPMED)
HGVS:: NC_000005.10:g.83538811T>C, NC_000005.9:g.82834630T>C, NG_012682.1:g.72101T>C, NM_004385.5:c.5808T>C, NM_004385.4:c.5808T>C, NM_001164097.2:c.2847T>C, NM_001164097.1:c.2847T>C

Select item 3104855.

rs310485 has merged into rs309557 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:83538811 (GRCh38)
5:82834630 (GRCh37)
Canonical SPDI:: NC_000005.10:83538810:T:C
Gene:: VCAN (Varview), VCAN-AS1 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.495618/90818 (ALFA)
T=0.15625/10 (PRJEB36033)
T=0.340686/139 (SGDP_PRJ)
T=0.35/14 (Siberian)
T=0.375/15 (GENOME_DK)
C=0.408795/251 (Vietnamese)
C=0.425256/1246 (KOREAN)
C=0.428493/785 (Korea1K)
T=0.43633/233 (MGP)
T=0.463333/278 (NorthernSweden)
T=0.467105/142 (FINRISK)
C=0.479076/2399 (1000Genomes)
C=0.480973/910 (HapMap)
T=0.481457/8069 (TOMMO)
C=0.483789/58582 (ExAC)
C=0.485217/121638 (GnomAD_exomes)
C=0.48547/1871 (ALSPAC)
T=0.486974/486 (GoNL)
C=0.489482/1815 (TWINSUK)
C=0.490179/2196 (Estonian)
T=0.495133/69281 (GnomAD)
T=0.49537/107 (Qatari)
C=0.497924/6476 (GoESP)
C=0.499494/132211 (TOPMED)
HGVS:: NC_000005.10:g.83538811T>C, NC_000005.9:g.82834630T>C, NG_012682.1:g.72101T>C, NM_004385.5:c.5808T>C, NM_004385.4:c.5808T>C, NM_001164097.2:c.2847T>C, NM_001164097.1:c.2847T>C

dbSNP