SNP Links for PMC (Select 1971127) - SNP

Select item 58525931.

rs5852593 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 3:130378802 (GRCh38)
3:130097646 (GRCh37)
Canonical SPDI:: NC_000003.12:130378802:T:TT
Gene:: COL6A5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0.247138/4577 (ALFA)
T=0.15/6 (GENOME_DK)
T=0.168333/101 (NorthernSweden)
T=0.172345/172 (GoNL)
T=0.175446/786 (Estonian)
T=0.199014/767 (ALSPAC)
T=0.199569/740 (TWINSUK)
T=0.28265/39562 (GnomAD)
T=0.309834/82010 (TOPMED)
T=0.382417/1915 (1000Genomes)
-=0.449006/7525 (TOMMO)
T=0.457547/97 (Vietnamese)
T=0.467795/857 (Korea1K)
HGVS:: NC_000003.12:g.130378803dup, NC_000003.11:g.130097646dup, NG_021424.1:g.38288dup

Select item 46887612.

rs4688761 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:130406145 (GRCh38)
3:130124989 (GRCh37)
Canonical SPDI:: NC_000003.12:130406144:C:T
Gene:: COL6A5 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.337123/27758 (ALFA)
T=0.157124/2633 (TOMMO)
T=0.163481/479 (KOREAN)
T=0.164557/130 (PRJEB37584)
C=0.210714/944 (Estonian)
C=0.225/9 (GENOME_DK)
C=0.228333/137 (NorthernSweden)
C=0.231463/231 (GoNL)
T=0.254717/54 (Vietnamese)
C=0.261597/970 (TWINSUK)
C=0.265698/1024 (ALSPAC)
C=0.269231/14 (Siberian)
C=0.342767/109 (SGDP_PRJ)
C=0.35206/188 (MGP)
T=0.391304/738 (HapMap)
C=0.394437/1801 (GoESP)
C=0.409434/63043 (GnomAD_exomes)
T=0.410525/2056 (1000Genomes)
C=0.414786/58070 (GnomAD)
C=0.444971/8822 (ExAC)
C=0.452397/119745 (TOPMED)
C=0.458333/99 (Qatari)
HGVS:: NC_000003.12:g.130406145C>T, NC_000003.11:g.130124989C>T, NG_021424.1:g.65631C>T, NM_153264.7:c.4395C>T, NM_153264.6:c.4395C>T, NR_022012.3:n.4733C>T, NR_022012.2:n.4889C>T, NM_001278298.2:c.4395C>T, NM_001278298.1:c.4395C>T, XM_011512622.3:c.4395C>T, XM_011512622.2:c.4395C>T, XM_011512622.1:c.4395C>T, XM_011512623.3:c.4395C>T, XM_011512623.2:c.4395C>T, XM_011512623.1:c.4395C>T

Select item 14973093.

rs1497309 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:130414776 (GRCh38)
3:130133620 (GRCh37)
Canonical SPDI:: NC_000003.12:130414775:T:C
Gene:: COL6A5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.317315/22075 (ALFA)
C=0.15769/2643 (TOMMO)
C=0.16587/486 (KOREAN)
T=0.210491/943 (Estonian)
T=0.225/9 (GENOME_DK)
T=0.228333/137 (NorthernSweden)
T=0.230461/230 (GoNL)
T=0.261057/968 (TWINSUK)
T=0.265179/1022 (ALSPAC)
T=0.269231/14 (Siberian)
C=0.271028/58 (Vietnamese)
T=0.341615/110 (SGDP_PRJ)
T=0.40131/56128 (GnomAD)
C=0.414815/784 (HapMap)
C=0.423173/2119 (1000Genomes)
T=0.438279/116008 (TOPMED)
T=0.453704/98 (Qatari)
C=0.457294/953 (HGDP_Stanford)
HGVS:: NC_000003.12:g.130414776T>C, NC_000003.11:g.130133620T>C, NG_021424.1:g.74262T>C

dbSNP