SNP Links for Gene (Select 521) - SNP

Links from Gene

Items: 1 to 20 of 1496

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Select item 14898271051.

rs1489827105 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:671946 (GRCh38)
4:665735 (GRCh37)
Canonical SPDI:: NC_000004.12:671945:C:A
Gene:: ATP5ME (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.671946C>A, NC_000004.11:g.665735C>A, NG_009839.1:g.51373C>A

Select item 14896643092.

rs1489664309 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:671996 (GRCh38)
4:665785 (GRCh37)
Canonical SPDI:: NC_000004.12:671995:C:G
Gene:: ATP5ME (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.671996C>G, NC_000004.11:g.665785C>G, NG_009839.1:g.51423C>G

Select item 14888957103.

rs1488895710 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:674468 (GRCh38)
4:668257 (GRCh37)
Canonical SPDI:: NC_000004.12:674467:C:T
Gene:: ATP5ME (Varview), MYL5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000043/6 (GnomAD)
HGVS:: NC_000004.12:g.674468C>T, NC_000004.11:g.668257C>T

Select item 14885655984.

rs1488565598 [Homo sapiens]

Variant type:: DEL
Alleles:: TTT>- [Show Flanks]
Chromosome:: 4:673676 (GRCh38)
4:667465 (GRCh37)
Canonical SPDI:: NC_000004.12:673675:TTT:
Gene:: ATP5ME (Varview), MYL5 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.673676_673678del, NC_000004.11:g.667465_667467del

Select item 14883531845.

rs1488353184 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:672936 (GRCh38)
4:666725 (GRCh37)
Canonical SPDI:: NC_000004.12:672935:T:C
Gene:: ATP5ME (Varview), MYL5 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.672936T>C, NC_000004.11:g.666725T>C

Select item 14877274156.

rs1487727415 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:675014 (GRCh38)
4:668803 (GRCh37)
Canonical SPDI:: NC_000004.12:675013:A:G
Gene:: ATP5ME (Varview), MYL5 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.675014A>G, NC_000004.11:g.668803A>G, XM_047415724.1:c.-3626A>G, XM_047415726.1:c.-3477A>G, XM_047415729.1:c.-3013A>G, XM_047415730.1:c.-2864A>G, XM_047415725.1:c.-1914A>G, NM_001395443.1:c.-1301A>G, NM_001395447.1:c.-1316A>G, NM_001395441.1:c.-1152A>G, NM_001395442.1:c.-1083A>G, NM_001395444.1:c.-1167A>G, NM_001395445.1:c.-1098A>G

Select item 14875048517.

rs1487504851 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:673587 (GRCh38)
4:667376 (GRCh37)
Canonical SPDI:: NC_000004.12:673586:C:T
Gene:: ATP5ME (Varview), MYL5 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.673587C>T, NC_000004.11:g.667376C>T

Select item 14873412158.

rs1487341215 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 4:675712 (GRCh38)
4:669501 (GRCh37)
Canonical SPDI:: NC_000004.12:675711:G:A,NC_000004.12:675711:G:C
Gene:: ATP5ME (Varview), MYL5 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.00055/1 (Korea1K)
HGVS:: NC_000004.12:g.675712G>A, NC_000004.12:g.675712G>C, NC_000004.11:g.669501G>A, NC_000004.11:g.669501G>C, XM_047415724.1:c.-2928G>A, XM_047415724.1:c.-2928G>C, XM_047415726.1:c.-2779G>A, XM_047415726.1:c.-2779G>C, XM_047415729.1:c.-2315G>A, XM_047415729.1:c.-2315G>C, XM_047415730.1:c.-2166G>A, XM_047415730.1:c.-2166G>C, XM_047415725.1:c.-1216G>A, XM_047415725.1:c.-1216G>C, NM_001395443.1:c.-603G>A, NM_001395443.1:c.-603G>C, NM_001395447.1:c.-618G>A, NM_001395447.1:c.-618G>C, NM_001395441.1:c.-454G>A, NM_001395441.1:c.-454G>C, NM_001395442.1:c.-385G>A, NM_001395442.1:c.-385G>C, NM_001395444.1:c.-469G>A, NM_001395444.1:c.-469G>C, NM_001395445.1:c.-400G>A, NM_001395445.1:c.-400G>C

Select item 14869997809.

rs1486999780 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:672121 (GRCh38)
4:665910 (GRCh37)
Canonical SPDI:: NC_000004.12:672120:C:T
Gene:: ATP5ME (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000004.12:g.672121C>T, NC_000004.11:g.665910C>T, NG_009839.1:g.51548C>T

Select item 148626972610.

rs1486269726 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 4:673966 (GRCh38)
4:667755 (GRCh37)
Canonical SPDI:: NC_000004.12:673965:G:A,NC_000004.12:673965:G:C
Gene:: ATP5ME (Varview), MYL5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000028/4 (GnomAD_exomes)
HGVS:: NC_000004.12:g.673966G>A, NC_000004.12:g.673966G>C, NC_000004.11:g.667755G>A, NC_000004.11:g.667755G>C, NM_007100.4:c.37C>T, NM_007100.4:c.37C>G, NM_007100.3:c.37C>T, NM_007100.3:c.37C>G, NP_009031.1:p.Leu13Phe, NP_009031.1:p.Leu13Val

Select item 148535461911.

rs1485354619 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:674642 (GRCh38)
4:668431 (GRCh37)
Canonical SPDI:: NC_000004.12:674641:G:A
Gene:: ATP5ME (Varview), MYL5 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000026/7 (TOPMED)
HGVS:: NC_000004.12:g.674642G>A, NC_000004.11:g.668431G>A, NM_002477.2:c.-284G>A, NM_001363650.2:c.-299G>A, NM_001363650.1:c.-299G>A, XM_047415724.1:c.-3998G>A, XM_047415726.1:c.-3849G>A, XM_047415729.1:c.-3385G>A, XM_047415730.1:c.-3236G>A, XM_047415728.1:c.-2678G>A, XM_047415727.1:c.-2609G>A, XM_047415725.1:c.-2286G>A, NM_001395443.1:c.-1673G>A, NM_001395447.1:c.-1688G>A, NM_001395441.1:c.-1524G>A, NM_001395442.1:c.-1455G>A, NM_001395444.1:c.-1539G>A, NM_001395445.1:c.-1470G>A, NM_001395446.1:c.-291G>A, NM_001395448.1:c.-215G>A, NM_001395449.1:c.-162G>A

Select item 148493482312.

rs1484934823 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:672260 (GRCh38)
4:666049 (GRCh37)
Canonical SPDI:: NC_000004.12:672259:A:G
Gene:: ATP5ME (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.672260A>G, NC_000004.11:g.666049A>G, NG_009839.1:g.51687A>G

Select item 148475283413.

rs1484752834 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:673903 (GRCh38)
4:667692 (GRCh37)
Canonical SPDI:: NC_000004.12:673902:G:A
Gene:: ATP5ME (Varview), MYL5 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.673903G>A, NC_000004.11:g.667692G>A

Select item 148393987314.

rs1483939873 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:676256 (GRCh38)
4:670045 (GRCh37)
Canonical SPDI:: NC_000004.12:676255:C:G,NC_000004.12:676255:C:T
Gene:: ATP5ME (Varview), MYL5 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000004.12:g.676256C>G, NC_000004.12:g.676256C>T, NC_000004.11:g.670045C>G, NC_000004.11:g.670045C>T, XM_047415724.1:c.-2384C>G, XM_047415724.1:c.-2384C>T, XM_047415726.1:c.-2384C>G, XM_047415726.1:c.-2384C>T, XM_047415729.1:c.-1771C>G, XM_047415729.1:c.-1771C>T, XM_047415730.1:c.-1771C>G, XM_047415730.1:c.-1771C>T, XM_047415728.1:c.-2384C>G, XM_047415728.1:c.-2384C>T, XM_047415727.1:c.-2384C>G, XM_047415727.1:c.-2384C>T

Select item 148361434115.

rs1483614341 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:673504 (GRCh38)
4:667293 (GRCh37)
Canonical SPDI:: NC_000004.12:673503:C:T
Gene:: ATP5ME (Varview), MYL5 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_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_000004.12:g.673504C>T, NC_000004.11:g.667293C>T

Select item 148331652116.

rs1483316521 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 4:674768 (GRCh38)
4:668557 (GRCh37)
Canonical SPDI:: NC_000004.12:674767:G:A,NC_000004.12:674767:G:C
Gene:: ATP5ME (Varview), MYL5 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.674768G>A, NC_000004.12:g.674768G>C, NC_000004.11:g.668557G>A, NC_000004.11:g.668557G>C, XM_047415724.1:c.-3872G>A, XM_047415724.1:c.-3872G>C, XM_047415726.1:c.-3723G>A, XM_047415726.1:c.-3723G>C, XM_047415729.1:c.-3259G>A, XM_047415729.1:c.-3259G>C, XM_047415730.1:c.-3110G>A, XM_047415730.1:c.-3110G>C, XM_047415725.1:c.-2160G>A, XM_047415725.1:c.-2160G>C, NM_001395443.1:c.-1547G>A, NM_001395443.1:c.-1547G>C, NM_001395447.1:c.-1562G>A, NM_001395447.1:c.-1562G>C, NM_001395441.1:c.-1398G>A, NM_001395441.1:c.-1398G>C, NM_001395442.1:c.-1329G>A, NM_001395442.1:c.-1329G>C, NM_001395444.1:c.-1413G>A, NM_001395444.1:c.-1413G>C, NM_001395445.1:c.-1344G>A, NM_001395445.1:c.-1344G>C

Select item 148266219217.

rs1482662192 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 4:676309 (GRCh38)
4:670098 (GRCh37)
Canonical SPDI:: NC_000004.12:676308:T:A,NC_000004.12:676308:T:C
Gene:: MYL5 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.676309T>A, NC_000004.12:g.676309T>C, NC_000004.11:g.670098T>A, NC_000004.11:g.670098T>C, XM_047415724.1:c.-2331T>A, XM_047415724.1:c.-2331T>C, XM_047415726.1:c.-2331T>A, XM_047415726.1:c.-2331T>C, XM_047415729.1:c.-1718T>A, XM_047415729.1:c.-1718T>C, XM_047415730.1:c.-1718T>A, XM_047415730.1:c.-1718T>C, XM_047415728.1:c.-2331T>A, XM_047415728.1:c.-2331T>C, XM_047415727.1:c.-2331T>A, XM_047415727.1:c.-2331T>C

Select item 148252838318.

rs1482528383 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:672226 (GRCh38)
4:666015 (GRCh37)
Canonical SPDI:: NC_000004.12:672225:T:C
Gene:: ATP5ME (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000004.12:g.672226T>C, NC_000004.11:g.666015T>C, NG_009839.1:g.51653T>C

Select item 148198564819.

rs1481985648 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:675547 (GRCh38)
4:669336 (GRCh37)
Canonical SPDI:: NC_000004.12:675546:T:C
Gene:: ATP5ME (Varview), MYL5 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.675547T>C, NC_000004.11:g.669336T>C, XM_047415724.1:c.-3093T>C, XM_047415726.1:c.-2944T>C, XM_047415729.1:c.-2480T>C, XM_047415730.1:c.-2331T>C, XM_047415725.1:c.-1381T>C, NM_001395443.1:c.-768T>C, NM_001395447.1:c.-783T>C, NM_001395441.1:c.-619T>C, NM_001395442.1:c.-550T>C, NM_001395444.1:c.-634T>C, NM_001395445.1:c.-565T>C

Select item 148193444420.

rs1481934444 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:674794 (GRCh38)
4:668583 (GRCh37)
Canonical SPDI:: NC_000004.12:674793:C:T
Gene:: ATP5ME (Varview), MYL5 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.674794C>T, NC_000004.11:g.668583C>T, XM_047415724.1:c.-3846C>T, XM_047415726.1:c.-3697C>T, XM_047415729.1:c.-3233C>T, XM_047415730.1:c.-3084C>T, XM_047415725.1:c.-2134C>T, NM_001395443.1:c.-1521C>T, NM_001395447.1:c.-1536C>T, NM_001395441.1:c.-1372C>T, NM_001395442.1:c.-1303C>T, NM_001395444.1:c.-1387C>T, NM_001395445.1:c.-1318C>T

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