SNP Links for Gene (Select 256076) - SNP

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Select item 14915830021.

rs1491583002 has merged into rs34150957 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 3:130471090 (GRCh38)
3:130189934 (GRCh37)
Canonical SPDI:: NC_000003.12:130471074:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000003.12:130471074:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000003.12:130471074:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000003.12:130471074:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000003.12:130471074:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:130471074:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:130471074:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:130471074:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:130471074:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:130471074:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:130471074:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: COL6A5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000003.12:g.130471076GT[7], NC_000003.12:g.130471076GT[8], NC_000003.12:g.130471076GT[9], NC_000003.12:g.130471076GT[10], NC_000003.12:g.130471076GT[11], NC_000003.12:g.130471076GT[12], NC_000003.12:g.130471076GT[14], NC_000003.12:g.130471076GT[15], NC_000003.12:g.130471076GT[16], NC_000003.12:g.130471076GT[17], NC_000003.12:g.130471076GT[18], NC_000003.11:g.130189920GT[7], NC_000003.11:g.130189920GT[8], NC_000003.11:g.130189920GT[9], NC_000003.11:g.130189920GT[10], NC_000003.11:g.130189920GT[11], NC_000003.11:g.130189920GT[12], NC_000003.11:g.130189920GT[14], NC_000003.11:g.130189920GT[15], NC_000003.11:g.130189920GT[16], NC_000003.11:g.130189920GT[17], NC_000003.11:g.130189920GT[18], NG_021424.1:g.130562GT[7], NG_021424.1:g.130562GT[8], NG_021424.1:g.130562GT[9], NG_021424.1:g.130562GT[10], NG_021424.1:g.130562GT[11], NG_021424.1:g.130562GT[12], NG_021424.1:g.130562GT[14], NG_021424.1:g.130562GT[15], NG_021424.1:g.130562GT[16], NG_021424.1:g.130562GT[17], NG_021424.1:g.130562GT[18]

Select item 14915592782.

rs1491559278 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 3:130362289 (GRCh38)
3:130081132 (GRCh37)
Canonical SPDI:: NC_000003.12:130362288:CA:
Gene:: COL6A5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00053/18 (GnomAD)
-=0.00065/18 (TOMMO)
HGVS:: NC_000003.12:g.130362289_130362290del, NC_000003.11:g.130081132_130081133del, NG_021424.1:g.21774_21775del

Select item 14915522063.

rs1491552206 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 3:130344836 (GRCh38)
3:130063679 (GRCh37)
Canonical SPDI:: NC_000003.12:130344834:ACA:A
Gene:: COL6A5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0.000061/1 (ALFA)
-=0.000036/5 (GnomAD)
HGVS:: NC_000003.12:g.130344836_130344837del, NC_000003.11:g.130063679_130063680del, NG_021424.1:g.4321_4322del

Select item 14915303154.

rs1491530315 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->G
Chromosome:: no mapping
Canonical SPDI:

Select item 14914775105.

rs1491477510 has merged into rs374784717 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:130362334 (GRCh38)
3:130081177 (GRCh37)
Canonical SPDI:: NC_000003.12:130362326:TTTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000003.12:130362326:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000003.12:130362326:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:130362326:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:130362326:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:130362326:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:130362326:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:130362326:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:130362326:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:130362326:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:130362326:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:130362326:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:130362326:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:130362326:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:130362326:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:130362326:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:130362326:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:130362326:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: COL6A5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
-=0.0052/8 (Korea1K)
-=0.0132/2 (NorthernSweden)
HGVS:: NC_000003.12:g.130362334_130362347del, NC_000003.12:g.130362336_130362347del, NC_000003.12:g.130362337_130362347del, NC_000003.12:g.130362338_130362347del, NC_000003.12:g.130362339_130362347del, NC_000003.12:g.130362340_130362347del, NC_000003.12:g.130362341_130362347del, NC_000003.12:g.130362342_130362347del, NC_000003.12:g.130362343_130362347del, NC_000003.12:g.130362344_130362347del, NC_000003.12:g.130362345_130362347del, NC_000003.12:g.130362346_130362347del, NC_000003.12:g.130362347del, NC_000003.12:g.130362347dup, NC_000003.12:g.130362346_130362347dup, NC_000003.12:g.130362345_130362347dup, NC_000003.12:g.130362344_130362347dup, NC_000003.12:g.130362343_130362347dup, NC_000003.11:g.130081177_130081190del, NC_000003.11:g.130081179_130081190del, NC_000003.11:g.130081180_130081190del, NC_000003.11:g.130081181_130081190del, NC_000003.11:g.130081182_130081190del, NC_000003.11:g.130081183_130081190del, NC_000003.11:g.130081184_130081190del, NC_000003.11:g.130081185_130081190del, NC_000003.11:g.130081186_130081190del, NC_000003.11:g.130081187_130081190del, NC_000003.11:g.130081188_130081190del, NC_000003.11:g.130081189_130081190del, NC_000003.11:g.130081190del, NC_000003.11:g.130081190dup, NC_000003.11:g.130081189_130081190dup, NC_000003.11:g.130081188_130081190dup, NC_000003.11:g.130081187_130081190dup, NC_000003.11:g.130081186_130081190dup, NG_021424.1:g.21819_21832del, NG_021424.1:g.21821_21832del, NG_021424.1:g.21822_21832del, NG_021424.1:g.21823_21832del, NG_021424.1:g.21824_21832del, NG_021424.1:g.21825_21832del, NG_021424.1:g.21826_21832del, NG_021424.1:g.21827_21832del, NG_021424.1:g.21828_21832del, NG_021424.1:g.21829_21832del, NG_021424.1:g.21830_21832del, NG_021424.1:g.21831_21832del, NG_021424.1:g.21832del, NG_021424.1:g.21832dup, NG_021424.1:g.21831_21832dup, NG_021424.1:g.21830_21832dup, NG_021424.1:g.21829_21832dup, NG_021424.1:g.21828_21832dup

Select item 14914594036.

rs1491459403 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 3:130398129 (GRCh38)
3:130116974 (GRCh37)
Canonical SPDI:: NC_000003.12:130398129:T:TGT
Gene:: COL6A5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGT=0./0 (ALFA)
HGVS:: NC_000003.12:g.130398130_130398131insGT, NC_000003.11:g.130116974_130116975insGT, NG_021424.1:g.57616_57617insGT

Select item 14914348707.

rs1491434870 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 3:130461775 (GRCh38)
3:130180619 (GRCh37)
Canonical SPDI:: NC_000003.12:130461774:TA:
Gene:: COL6A5 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.130461775_130461776del, NC_000003.11:g.130180619_130180620del, NG_021424.1:g.121261_121262del

Select item 14913487598.

rs1491348759 has merged into rs1184871633 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATATATATATATATATAT>-,AT,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATAT [Show Flanks]
Chromosome:: 3:130362308 (GRCh38)
3:130081151 (GRCh37)
Canonical SPDI:: NC_000003.12:130362289:ATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATAT,NC_000003.12:130362289:ATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATAT,NC_000003.12:130362289:ATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATAT,NC_000003.12:130362289:ATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATAT,NC_000003.12:130362289:ATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATAT,NC_000003.12:130362289:ATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATAT,NC_000003.12:130362289:ATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATAT,NC_000003.12:130362289:ATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATAT,NC_000003.12:130362289:ATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATAT,NC_000003.12:130362289:ATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATAT,NC_000003.12:130362289:ATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATAT,NC_000003.12:130362289:ATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATAT,NC_000003.12:130362289:ATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATAT,NC_000003.12:130362289:ATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATAT,NC_000003.12:130362289:ATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000003.12:130362289:ATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000003.12:130362289:ATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000003.12:130362289:ATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000003.12:130362289:ATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000003.12:130362289:ATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT
Gene:: COL6A5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATATATATATAT=0./0 (ALFA)
HGVS:: NC_000003.12:g.130362290AT[9], NC_000003.12:g.130362290AT[10], NC_000003.12:g.130362290AT[11], NC_000003.12:g.130362290AT[12], NC_000003.12:g.130362290AT[13], NC_000003.12:g.130362290AT[14], NC_000003.12:g.130362290AT[15], NC_000003.12:g.130362290AT[16], NC_000003.12:g.130362290AT[17], NC_000003.12:g.130362290AT[18], NC_000003.12:g.130362290AT[20], NC_000003.12:g.130362290AT[21], NC_000003.12:g.130362290AT[22], NC_000003.12:g.130362290AT[23], NC_000003.12:g.130362290AT[24], NC_000003.12:g.130362290AT[25], NC_000003.12:g.130362290AT[26], NC_000003.12:g.130362290AT[27], NC_000003.12:g.130362290AT[28], NC_000003.12:g.130362290AT[29], NC_000003.11:g.130081133AT[9], NC_000003.11:g.130081133AT[10], NC_000003.11:g.130081133AT[11], NC_000003.11:g.130081133AT[12], NC_000003.11:g.130081133AT[13], NC_000003.11:g.130081133AT[14], NC_000003.11:g.130081133AT[15], NC_000003.11:g.130081133AT[16], NC_000003.11:g.130081133AT[17], NC_000003.11:g.130081133AT[18], NC_000003.11:g.130081133AT[20], NC_000003.11:g.130081133AT[21], NC_000003.11:g.130081133AT[22], NC_000003.11:g.130081133AT[23], NC_000003.11:g.130081133AT[24], NC_000003.11:g.130081133AT[25], NC_000003.11:g.130081133AT[26], NC_000003.11:g.130081133AT[27], NC_000003.11:g.130081133AT[28], NC_000003.11:g.130081133AT[29], NG_021424.1:g.21775AT[9], NG_021424.1:g.21775AT[10], NG_021424.1:g.21775AT[11], NG_021424.1:g.21775AT[12], NG_021424.1:g.21775AT[13], NG_021424.1:g.21775AT[14], NG_021424.1:g.21775AT[15], NG_021424.1:g.21775AT[16], NG_021424.1:g.21775AT[17], NG_021424.1:g.21775AT[18], NG_021424.1:g.21775AT[20], NG_021424.1:g.21775AT[21], NG_021424.1:g.21775AT[22], NG_021424.1:g.21775AT[23], NG_021424.1:g.21775AT[24], NG_021424.1:g.21775AT[25], NG_021424.1:g.21775AT[26], NG_021424.1:g.21775AT[27], NG_021424.1:g.21775AT[28], NG_021424.1:g.21775AT[29]

Select item 14913436809.

rs1491343680 has merged into rs137971001 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAAAAGAAAA>-,GAAAA,GAAAAGAAAAGAAAA [Show Flanks]
Chromosome:: 3:130475042 (GRCh38)
3:130193886 (GRCh37)
Canonical SPDI:: NC_000003.12:130475031:GAAAAGAAAAGAAAAGAAAA:GAAAAGAAAA,NC_000003.12:130475031:GAAAAGAAAAGAAAAGAAAA:GAAAAGAAAAGAAAA,NC_000003.12:130475031:GAAAAGAAAAGAAAAGAAAA:GAAAAGAAAAGAAAAGAAAAGAAAA
Gene:: COL6A5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAAAAGAAAAGAAAAGAAAAGAAAA=0./0 (ALFA)
-=0.27231/4556 (TOMMO)
-=0.47876/3066 (1000Genomes)
HGVS:: NC_000003.12:g.130475032GAAAA[2], NC_000003.12:g.130475032GAAAA[3], NC_000003.12:g.130475032GAAAA[5], NC_000003.11:g.130193876GAAAA[2], NC_000003.11:g.130193876GAAAA[3], NC_000003.11:g.130193876GAAAA[5], NG_021424.1:g.134518GAAAA[2], NG_021424.1:g.134518GAAAA[3], NG_021424.1:g.134518GAAAA[5]

Select item 149122514110.

rs1491225141 has merged into rs10590917 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 3:130395899 (GRCh38)
3:130114743 (GRCh37)
Canonical SPDI:: NC_000003.12:130395886:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGT,NC_000003.12:130395886:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000003.12:130395886:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000003.12:130395886:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000003.12:130395886:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:130395886:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:130395886:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: COL6A5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGT=0./0 (ALFA)
-=0.036667/22 (NorthernSweden)
-=0.1/4 (GENOME_DK)
-=0.231618/61307 (TOPMED)
-=0.360024/1803 (1000Genomes)
GT=0.5/105 (Vietnamese)
HGVS:: NC_000003.12:g.130395887GT[6], NC_000003.12:g.130395887GT[7], NC_000003.12:g.130395887GT[8], NC_000003.12:g.130395887GT[9], NC_000003.12:g.130395887GT[11], NC_000003.12:g.130395887GT[12], NC_000003.12:g.130395887GT[15], NC_000003.11:g.130114731GT[6], NC_000003.11:g.130114731GT[7], NC_000003.11:g.130114731GT[8], NC_000003.11:g.130114731GT[9], NC_000003.11:g.130114731GT[11], NC_000003.11:g.130114731GT[12], NC_000003.11:g.130114731GT[15], NG_021424.1:g.55373GT[6], NG_021424.1:g.55373GT[7], NG_021424.1:g.55373GT[8], NG_021424.1:g.55373GT[9], NG_021424.1:g.55373GT[11], NG_021424.1:g.55373GT[12], NG_021424.1:g.55373GT[15]

Select item 149117841211.

rs1491178412 has merged into rs112983846 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 3:130432558 (GRCh38)
3:130151402 (GRCh37)
Canonical SPDI:: NC_000003.12:130432547:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:130432547:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:130432547:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:130432547:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:130432547:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:130432547:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:130432547:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:130432547:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:130432547:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: COL6A5 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
A=0.25/10 (GENOME_DK)
-=0.4966/2487 (1000Genomes)
HGVS:: NC_000003.12:g.130432558_130432563del, NC_000003.12:g.130432560_130432563del, NC_000003.12:g.130432561_130432563del, NC_000003.12:g.130432562_130432563del, NC_000003.12:g.130432563del, NC_000003.12:g.130432563dup, NC_000003.12:g.130432562_130432563dup, NC_000003.12:g.130432561_130432563dup, NC_000003.12:g.130432559_130432563dup, NC_000003.11:g.130151402_130151407del, NC_000003.11:g.130151404_130151407del, NC_000003.11:g.130151405_130151407del, NC_000003.11:g.130151406_130151407del, NC_000003.11:g.130151407del, NC_000003.11:g.130151407dup, NC_000003.11:g.130151406_130151407dup, NC_000003.11:g.130151405_130151407dup, NC_000003.11:g.130151403_130151407dup, NG_021424.1:g.92044_92049del, NG_021424.1:g.92046_92049del, NG_021424.1:g.92047_92049del, NG_021424.1:g.92048_92049del, NG_021424.1:g.92049del, NG_021424.1:g.92049dup, NG_021424.1:g.92048_92049dup, NG_021424.1:g.92047_92049dup, NG_021424.1:g.92045_92049dup

Select item 149109736412.

rs1491097364 has merged into rs57263258 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:130475017 (GRCh38)
3:130193861 (GRCh37)
Canonical SPDI:: NC_000003.12:130475007:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000003.12:130475007:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:130475007:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:130475007:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:130475007:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:130475007:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:130475007:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:130475007:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:130475007:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:130475007:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:130475007:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:130475007:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:130475007:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:130475007:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:130475007:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:130475007:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:130475007:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:130475007:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:130475007:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:130475007:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:130475007:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:130475007:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:130475007:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:130475007:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:130475007:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:130475007:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: COL6A5 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000003.12:g.130475017_130475030del, NC_000003.12:g.130475018_130475030del, NC_000003.12:g.130475019_130475030del, NC_000003.12:g.130475020_130475030del, NC_000003.12:g.130475022_130475030del, NC_000003.12:g.130475023_130475030del, NC_000003.12:g.130475024_130475030del, NC_000003.12:g.130475025_130475030del, NC_000003.12:g.130475026_130475030del, NC_000003.12:g.130475027_130475030del, NC_000003.12:g.130475028_130475030del, NC_000003.12:g.130475029_130475030del, NC_000003.12:g.130475030del, NC_000003.12:g.130475030dup, NC_000003.12:g.130475029_130475030dup, NC_000003.12:g.130475028_130475030dup, NC_000003.12:g.130475027_130475030dup, NC_000003.12:g.130475026_130475030dup, NC_000003.12:g.130475025_130475030dup, NC_000003.12:g.130475022_130475030dup, NC_000003.12:g.130475019_130475030dup, NC_000003.12:g.130475015_130475030dup, NC_000003.12:g.130475014_130475030dup, NC_000003.12:g.130475009_130475030dup, NC_000003.12:g.130475008_130475030dup, NC_000003.12:g.130475030_130475031insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.130193861_130193874del, NC_000003.11:g.130193862_130193874del, NC_000003.11:g.130193863_130193874del, NC_000003.11:g.130193864_130193874del, NC_000003.11:g.130193866_130193874del, NC_000003.11:g.130193867_130193874del, NC_000003.11:g.130193868_130193874del, NC_000003.11:g.130193869_130193874del, NC_000003.11:g.130193870_130193874del, NC_000003.11:g.130193871_130193874del, NC_000003.11:g.130193872_130193874del, NC_000003.11:g.130193873_130193874del, NC_000003.11:g.130193874del, NC_000003.11:g.130193874dup, NC_000003.11:g.130193873_130193874dup, NC_000003.11:g.130193872_130193874dup, NC_000003.11:g.130193871_130193874dup, NC_000003.11:g.130193870_130193874dup, NC_000003.11:g.130193869_130193874dup, NC_000003.11:g.130193866_130193874dup, NC_000003.11:g.130193863_130193874dup, NC_000003.11:g.130193859_130193874dup, NC_000003.11:g.130193858_130193874dup, NC_000003.11:g.130193853_130193874dup, NC_000003.11:g.130193852_130193874dup, NC_000003.11:g.130193874_130193875insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_021424.1:g.134503_134516del, NG_021424.1:g.134504_134516del, NG_021424.1:g.134505_134516del, NG_021424.1:g.134506_134516del, NG_021424.1:g.134508_134516del, NG_021424.1:g.134509_134516del, NG_021424.1:g.134510_134516del, NG_021424.1:g.134511_134516del, NG_021424.1:g.134512_134516del, NG_021424.1:g.134513_134516del, NG_021424.1:g.134514_134516del, NG_021424.1:g.134515_134516del, NG_021424.1:g.134516del, NG_021424.1:g.134516dup, NG_021424.1:g.134515_134516dup, NG_021424.1:g.134514_134516dup, NG_021424.1:g.134513_134516dup, NG_021424.1:g.134512_134516dup, NG_021424.1:g.134511_134516dup, NG_021424.1:g.134508_134516dup, NG_021424.1:g.134505_134516dup, NG_021424.1:g.134501_134516dup, NG_021424.1:g.134500_134516dup, NG_021424.1:g.134495_134516dup, NG_021424.1:g.134494_134516dup, NG_021424.1:g.134516_134517insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149106637513.

rs1491066375 has merged into rs5852595 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G,GGG,GGGG [Show Flanks]
Chromosome:: 3:130403573 (GRCh38)
3:130122417 (GRCh37)
Canonical SPDI:: NC_000003.12:130403565:GGGGGGGGG:GGGGGGG,NC_000003.12:130403565:GGGGGGGGG:GGGGGGGG,NC_000003.12:130403565:GGGGGGGGG:GGGGGGGGGG,NC_000003.12:130403565:GGGGGGGGG:GGGGGGGGGGG
Gene:: COL6A5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGG=0.001379/22 (ALFA)
G=0.000502/2 (1000Genomes)
G=0.097321/436 (Estonian)
G=0.112224/112 (GoNL)
G=0.126253/2116 (TOMMO)
G=0.136482/526 (ALSPAC)
G=0.139159/516 (TWINSUK)
G=0.15/6 (GENOME_DK)
G=0.15/90 (NorthernSweden)
G=0.170226/45057 (TOPMED)
G=0.195961/359 (Korea1K)
G=0.242991/52 (Vietnamese)
HGVS:: NC_000003.12:g.130403573_130403574del, NC_000003.12:g.130403574del, NC_000003.12:g.130403574dup, NC_000003.12:g.130403573_130403574dup, NC_000003.11:g.130122417_130122418del, NC_000003.11:g.130122418del, NC_000003.11:g.130122418dup, NC_000003.11:g.130122417_130122418dup, NG_021424.1:g.63059_63060del, NG_021424.1:g.63060del, NG_021424.1:g.63060dup, NG_021424.1:g.63059_63060dup

Select item 149100464914.

rs1491004649 has merged into rs66601903 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA [Show Flanks]
Chromosome:: 3:130344884 (GRCh38)
3:130063727 (GRCh37)
Canonical SPDI:: NC_000003.12:130344874:AAAAAAAAAAA:AAAAAAAAA,NC_000003.12:130344874:AAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:130344874:AAAAAAAAAAA:AAAAAAAAAAAA
Gene:: COL6A5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
A=0.3335/611 (Korea1K)
HGVS:: NC_000003.12:g.130344884_130344885del, NC_000003.12:g.130344885del, NC_000003.12:g.130344885dup, NC_000003.11:g.130063727_130063728del, NC_000003.11:g.130063728del, NC_000003.11:g.130063728dup, NG_021424.1:g.4369_4370del, NG_021424.1:g.4370del, NG_021424.1:g.4370dup

Select item 149094539515.

rs1490945395 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:130435670 (GRCh38)
3:130154514 (GRCh37)
Canonical SPDI:: NC_000003.12:130435669:G:C
Gene:: COL6A5 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
HGVS:: NC_000003.12:g.130435670G>C, NC_000003.11:g.130154514G>C, NG_021424.1:g.95156G>C

Select item 149093967216.

rs1490939672 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:130350917 (GRCh38)
3:130069760 (GRCh37)
Canonical SPDI:: NC_000003.12:130350916:A:G
Gene:: COL6A5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000034/9 (TOPMED)
HGVS:: NC_000003.12:g.130350917A>G, NC_000003.11:g.130069760A>G, NG_021424.1:g.10402A>G

Select item 149092843317.

rs1490928433 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:130427182 (GRCh38)
3:130146026 (GRCh37)
Canonical SPDI:: NC_000003.12:130427181:C:T
Gene:: COL6A5 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.130427182C>T, NC_000003.11:g.130146026C>T, NG_021424.1:g.86668C>T

Select item 149089324218.

rs1490893242 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:130391995 (GRCh38)
3:130110838 (GRCh37)
Canonical SPDI:: NC_000003.12:130391994:A:G
Gene:: COL6A5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.130391995A>G, NC_000003.11:g.130110838A>G, NG_021424.1:g.51480A>G

Select item 149084233119.

rs1490842331 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTGTGTGTGTGT>- [Show Flanks]
Chromosome:: 3:130393072 (GRCh38)
3:130111915 (GRCh37)
Canonical SPDI:: NC_000003.12:130393070:TTTTTTTGTGTGTGTGT:T
Gene:: COL6A5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000016/2 (GnomAD)
HGVS:: NC_000003.12:g.130393072_130393087del, NC_000003.11:g.130111915_130111930del, NG_021424.1:g.52557_52572del

Select item 149083447720.

rs1490834477 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:130374371 (GRCh38)
3:130093214 (GRCh37)
Canonical SPDI:: NC_000003.12:130374370:C:G
Gene:: COL6A5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.130374371C>G, NC_000003.11:g.130093214C>G, NG_021424.1:g.33856C>G

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