SNP Links for Gene (Select 9551) - SNP

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Items: 1 to 20 of 2706

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Select item 14909957151.

rs1490995715 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCACTCAACTC>- [Show Flanks]
Chromosome:: 7:99458813 (GRCh38)
7:99056436 (GRCh37)
Canonical SPDI:: NC_000007.14:99458810:TCCCACTCAACTC:TC
Gene:: ATP5MF (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TC=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.99458813_99458823del, NC_000007.13:g.99056436_99056446del

Select item 14907401002.

rs1490740100 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:99464974 (GRCh38)
7:99062597 (GRCh37)
Canonical SPDI:: NC_000007.14:99464973:G:A
Gene:: ATP5MF (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000007.14:g.99464974G>A, NC_000007.13:g.99062597G>A

Select item 14905600123.

rs1490560012 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:99466280 (GRCh38)
7:99063903 (GRCh37)
Canonical SPDI:: NC_000007.14:99466279:A:G
Gene:: ATP5MF (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.99466280A>G, NC_000007.13:g.99063903A>G

Select item 14902557274.

rs1490255727 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:99464601 (GRCh38)
7:99062224 (GRCh37)
Canonical SPDI:: NC_000007.14:99464600:T:C
Gene:: ATP5MF (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.99464601T>C, NC_000007.13:g.99062224T>C

Select item 14901313945.

rs1490131394 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:99464423 (GRCh38)
7:99062046 (GRCh37)
Canonical SPDI:: NC_000007.14:99464422:G:T
Gene:: ATP5MF (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.99464423G>T, NC_000007.13:g.99062046G>T

Select item 14898069786.

rs1489806978 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCT>- [Show Flanks]
Chromosome:: 7:99457695 (GRCh38)
7:99055318 (GRCh37)
Canonical SPDI:: NC_000007.14:99457691:CCTCCT:CCT
Gene:: ATP5MF (Varview), CPSF4 (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCTCCT=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.99457692CCT[1], NC_000007.13:g.99055315CCT[1]

Select item 14893244657.

rs1489324465 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:99466733 (GRCh38)
7:99064356 (GRCh37)
Canonical SPDI:: NC_000007.14:99466732:T:G
Gene:: ATP5MF (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000017/2 (GnomAD)
HGVS:: NC_000007.14:g.99466733T>G, NC_000007.13:g.99064356T>G

Select item 14890576568.

rs1489057656 has merged into rs933765867 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 7:99467866 (GRCh38)
7:99065489 (GRCh37)
Canonical SPDI:: NC_000007.14:99467865:AAAAAAAA:AAAAAAA,NC_000007.14:99467865:AAAAAAAA:AAAAAAAAA
Gene:: ATP5MF (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.99467873del, NC_000007.14:g.99467873dup, NC_000007.13:g.99065496del, NC_000007.13:g.99065496dup

Select item 14889320109.

rs1488932010 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:99465308 (GRCh38)
7:99062931 (GRCh37)
Canonical SPDI:: NC_000007.14:99465307:G:A
Gene:: ATP5MF (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.99465308G>A, NC_000007.13:g.99062931G>A

Select item 148891241810.

rs1488912418 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:99465172 (GRCh38)
7:99062795 (GRCh37)
Canonical SPDI:: NC_000007.14:99465171:T:C
Gene:: ATP5MF (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000029/4 (GnomAD)
HGVS:: NC_000007.14:g.99465172T>C, NC_000007.13:g.99062795T>C

Select item 148884016311.

rs1488840163 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:99464543 (GRCh38)
7:99062166 (GRCh37)
Canonical SPDI:: NC_000007.14:99464542:G:T
Gene:: ATP5MF (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: intron_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_000007.14:g.99464543G>T, NC_000007.13:g.99062166G>T

Select item 148872405512.

rs1488724055 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:99461672 (GRCh38)
7:99059295 (GRCh37)
Canonical SPDI:: NC_000007.14:99461671:C:T
Gene:: ATP5MF (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.99461672C>T, NC_000007.13:g.99059295C>T

Select item 148841688013.

rs1488416880 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 7:99467070 (GRCh38)
7:99064693 (GRCh37)
Canonical SPDI:: NC_000007.14:99467067:AGAG:AG
Gene:: ATP5MF (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AGAG=0./0 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.99467068AG[1], NC_000007.13:g.99064691AG[1]

Select item 148799502514.

rs1487995025 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:99462278 (GRCh38)
7:99059901 (GRCh37)
Canonical SPDI:: NC_000007.14:99462277:C:T
Gene:: ATP5MF (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000184/3 (ALFA)
T=0.000056/6 (GnomAD)
T=0.00051/8 (TOMMO)
T=0.000677/3 (Estonian)
T=0.001874/12 (1000Genomes)
HGVS:: NC_000007.14:g.99462278C>T, NC_000007.13:g.99059901C>T

Select item 148789274115.

rs1487892741 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:99468161 (GRCh38)
7:99065784 (GRCh37)
Canonical SPDI:: NC_000007.14:99468160:G:A,NC_000007.14:99468160:G:C
Gene:: ATP5MF (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000248/4 (TOMMO)
HGVS:: NC_000007.14:g.99468161G>A, NC_000007.14:g.99468161G>C, NC_000007.13:g.99065784G>A, NC_000007.13:g.99065784G>C

Select item 148780852916.

rs1487808529 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:99463038 (GRCh38)
7:99060661 (GRCh37)
Canonical SPDI:: NC_000007.14:99463037:T:C
Gene:: ATP5MF (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.99463038T>C, NC_000007.13:g.99060661T>C

Select item 148771563517.

rs1487715635 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 7:99462309 (GRCh38)
7:99059932 (GRCh37)
Canonical SPDI:: NC_000007.14:99462308:A:C,NC_000007.14:99462308:A:T
Gene:: ATP5MF (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.99462309A>C, NC_000007.14:g.99462309A>T, NC_000007.13:g.99059932A>C, NC_000007.13:g.99059932A>T

Select item 148754240718.

rs1487542407 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 7:99464662 (GRCh38)
7:99062286 (GRCh37)
Canonical SPDI:: NC_000007.14:99464662:AAAAAAA:AAAAAAAA
Gene:: ATP5MF (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.99464669dup, NC_000007.13:g.99062292dup

Select item 148712150819.

rs1487121508 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 7:99462288 (GRCh38)
7:99059911 (GRCh37)
Canonical SPDI:: NC_000007.14:99462287:T:A,NC_000007.14:99462287:T:C
Gene:: ATP5MF (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.00239/53 (TOMMO)
A=0.05613/163 (KOREAN)
HGVS:: NC_000007.14:g.99462288T>A, NC_000007.14:g.99462288T>C, NC_000007.13:g.99059911T>A, NC_000007.13:g.99059911T>C

Select item 148699493720.

rs1486994937 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:99459326 (GRCh38)
7:99056949 (GRCh37)
Canonical SPDI:: NC_000007.14:99459321:CACACA:CACA
Gene:: ATP5MF (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CACA=0.000071/1 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.99459322CA[2], NC_000007.13:g.99056945CA[2]

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