SNP Links for Gene (Select 102724330) - SNP

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Select item 14915139681.

rs1491513968 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 8:51899918 (GRCh38)
8:52812479 (GRCh37)
Canonical SPDI:: NC_000008.11:51899918:A:AA
Gene:: PCMTD1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.51899919dup, NC_000008.10:g.52812479dup

Select item 14914860432.

rs1491486043 has merged into rs566729068 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT [Show Flanks]
Chromosome:: 8:51941593 (GRCh38)
8:52854153 (GRCh37)
Canonical SPDI:: NC_000008.11:51941584:TTTTTTTTTTTT:TTTTTTTT,NC_000008.11:51941584:TTTTTTTTTTTT:TTTTTTTTTT,NC_000008.11:51941584:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:51941584:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:51941584:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:51941584:TTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:51941584:TTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:51941584:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:51941584:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.05263/2 (GENOME_DK)
HGVS:: NC_000008.11:g.51941593_51941596del, NC_000008.11:g.51941595_51941596del, NC_000008.11:g.51941596del, NC_000008.11:g.51941596dup, NC_000008.11:g.51941595_51941596dup, NC_000008.11:g.51941594_51941596dup, NC_000008.11:g.51941593_51941596dup, NC_000008.11:g.51941592_51941596dup, NC_000008.11:g.51941591_51941596dup, NC_000008.10:g.52854153_52854156del, NC_000008.10:g.52854155_52854156del, NC_000008.10:g.52854156del, NC_000008.10:g.52854156dup, NC_000008.10:g.52854155_52854156dup, NC_000008.10:g.52854154_52854156dup, NC_000008.10:g.52854153_52854156dup, NC_000008.10:g.52854152_52854156dup, NC_000008.10:g.52854151_52854156dup

Select item 14914788913.

rs1491478891 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: 8:51923541 (GRCh38)
8:52836102 (GRCh37)
Canonical SPDI:: NC_000008.11:51923541:TCTCTCTCTCT:TCTCTCTCTCTCT
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCTCTCTCTCT=0./0 (ALFA)
TC=0.000014/2 (GnomAD)
TC=0.000034/9 (TOPMED)
HGVS:: NC_000008.11:g.51923543CT[6], NC_000008.10:g.52836103CT[6]

Select item 14914011424.

rs1491401142 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 8:51944925 (GRCh38)
8:52857486 (GRCh37)
Canonical SPDI:: NC_000008.11:51944925::C
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000017/1 (GnomAD)
HGVS:: NC_000008.11:g.51944925_51944926insC, NC_000008.10:g.52857485_52857486insC

Select item 14913723505.

rs1491372350 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 8:51923541 (GRCh38)
8:52836101 (GRCh37)
Canonical SPDI:: NC_000008.11:51923540:GT:
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000015/4 (TOPMED)
HGVS:: NC_000008.11:g.51923541_51923542del, NC_000008.10:g.52836101_52836102del

Select item 14913127286.

rs1491312728 has merged into rs1554532591 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT,ATATAT,ATATATATATAT,ATATATATATATAT [Show Flanks]
Chromosome:: 8:51941584 (GRCh38)
8:52854144 (GRCh37)
Canonical SPDI:: NC_000008.11:51941568:TATATATATATATATAT:TATATATATATATAT,NC_000008.11:51941568:TATATATATATATATAT:TATATATATATATATATAT,NC_000008.11:51941568:TATATATATATATATAT:TATATATATATATATATATAT,NC_000008.11:51941568:TATATATATATATATAT:TATATATATATATATATATATATATAT,NC_000008.11:51941568:TATATATATATATATAT:TATATATATATATATATATATATATATAT
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATATATAT=0./0 (ALFA)
HGVS:: NC_000008.11:g.51941570AT[7], NC_000008.11:g.51941570AT[9], NC_000008.11:g.51941570AT[10], NC_000008.11:g.51941570AT[13], NC_000008.11:g.51941570AT[14], NC_000008.10:g.52854130AT[7], NC_000008.10:g.52854130AT[9], NC_000008.10:g.52854130AT[10], NC_000008.10:g.52854130AT[13], NC_000008.10:g.52854130AT[14]

Select item 14912820407.

rs1491282040 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 8:51937156 (GRCh38)
8:52849716 (GRCh37)
Canonical SPDI:: NC_000008.11:51937155:AA:
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000028/3 (GnomAD)
HGVS:: NC_000008.11:g.51937156_51937157del, NC_000008.10:g.52849716_52849717del

Select item 14911826258.

rs1491182625 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 8:51930166 (GRCh38)
8:52842726 (GRCh37)
Canonical SPDI:: NC_000008.11:51930165:GT:
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000084/1 (ALFA)
-=0.000143/17 (GnomAD)
-=0.00017/45 (TOPMED)
HGVS:: NC_000008.11:g.51930166_51930167del, NC_000008.10:g.52842726_52842727del

Select item 14909713159.

rs1490971315 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:51942565 (GRCh38)
8:52855125 (GRCh37)
Canonical SPDI:: NC_000008.11:51942564:G:A
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.51942565G>A, NC_000008.10:g.52855125G>A

Select item 149092467210.

rs1490924672 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:51904632 (GRCh38)
8:52817192 (GRCh37)
Canonical SPDI:: NC_000008.11:51904631:A:G
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.51904632A>G, NC_000008.10:g.52817192A>G

Select item 149092235211.

rs1490922352 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:51944926 (GRCh38)
8:52857486 (GRCh37)
Canonical SPDI:: NC_000008.11:51944925:T:C
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000008.11:g.51944926T>C, NC_000008.10:g.52857486T>C

Select item 149081548612.

rs1490815486 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:51917921 (GRCh38)
8:52830481 (GRCh37)
Canonical SPDI:: NC_000008.11:51917920:T:C
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.51917921T>C, NC_000008.10:g.52830481T>C

Select item 149078693913.

rs1490786939 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 8:51903822 (GRCh38)
8:52816382 (GRCh37)
Canonical SPDI:: NC_000008.11:51903821:AAAAA:AAAA
Validated:: by frequency,by alfa
MAF:: AAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.51903826del, NC_000008.10:g.52816386del

Select item 149073522314.

rs1490735223 [Homo sapiens]

Variant type:: DELINS
Alleles:: AACCTCA>- [Show Flanks]
Chromosome:: 8:51934621 (GRCh38)
8:52847181 (GRCh37)
Canonical SPDI:: NC_000008.11:51934618:CAAACCTCA:CA
Validated:: by frequency,by alfa
MAF:: CA=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.51934621_51934627del, NC_000008.10:g.52847181_52847187del

Select item 149054869915.

rs1490548699 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:51910538 (GRCh38)
8:52823098 (GRCh37)
Canonical SPDI:: NC_000008.11:51910537:A:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.51910538A>G, NC_000008.10:g.52823098A>G

Select item 149053291016.

rs1490532910 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:51897798 (GRCh38)
8:52810358 (GRCh37)
Canonical SPDI:: NC_000008.11:51897797:T:C
Gene:: PCMTD1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000008.11:g.51897798T>C, NC_000008.10:g.52810358T>C, XM_047421323.1:c.-29167A>G

Select item 149048186317.

rs1490481863 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:51943002 (GRCh38)
8:52855562 (GRCh37)
Canonical SPDI:: NC_000008.11:51943001:A:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.51943002A>G, NC_000008.10:g.52855562A>G

Select item 149044406618.

rs1490444066 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:51926570 (GRCh38)
8:52839130 (GRCh37)
Canonical SPDI:: NC_000008.11:51926569:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.51926570C>T, NC_000008.10:g.52839130C>T

Select item 149040566419.

rs1490405664 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 8:51923495 (GRCh38)
8:52836055 (GRCh37)
Canonical SPDI:: NC_000008.11:51923494:G:A,NC_000008.11:51923494:G:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.51923495G>A, NC_000008.11:g.51923495G>T, NC_000008.10:g.52836055G>A, NC_000008.10:g.52836055G>T

Select item 149026649320.

rs1490266493 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:51936486 (GRCh38)
8:52849046 (GRCh37)
Canonical SPDI:: NC_000008.11:51936485:C:A
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.51936486C>A, NC_000008.10:g.52849046C>A

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