SNP Links for Gene (Select 84833) - SNP

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Items: 1 to 20 of 2356

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Select item 14910966151.

rs1491096615 [Homo sapiens]

Variant type:: INS
Alleles:: ->GCCAAAGCCGCAAATTCCGCAGCTGGTGTCCTTCAACGAATCG [Show Flanks]
Chromosome:: 10:103392468 (GRCh38)
10:105152226 (GRCh37)
Canonical SPDI:: NC_000010.11:103392468::GCCAAAGCCGCAAATTCCGCAGCTGGTGTCCTTCAACGAATCG
Gene:: ATP5MK (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000010.11:g.103392468_103392469insGCCAAAGCCGCAAATTCCGCAGCTGGTGTCCTTCAACGAATCG, NC_000010.10:g.105152225_105152226insGCCAAAGCCGCAAATTCCGCAGCTGGTGTCCTTCAACGAATCG

Select item 14908290762.

rs1490829076 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 10:103391954 (GRCh38)
10:105151711 (GRCh37)
Canonical SPDI:: NC_000010.11:103391953:T:A
Gene:: ATP5MK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.103391954T>A, NC_000010.10:g.105151711T>A

Select item 14903609873.

rs1490360987 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:103391531 (GRCh38)
10:105151288 (GRCh37)
Canonical SPDI:: NC_000010.11:103391530:A:G
Gene:: ATP5MK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.103391531A>G, NC_000010.10:g.105151288A>G

Select item 14898719084.

rs1489871908 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:103391147 (GRCh38)
10:105150904 (GRCh37)
Canonical SPDI:: NC_000010.11:103391143:ACACA:ACA
Gene:: ATP5MK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACA=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.103391145CA[1], NC_000010.10:g.105150902CA[1]

Select item 14893544425.

rs1489354442 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:103389095 (GRCh38)
10:105148852 (GRCh37)
Canonical SPDI:: NC_000010.11:103389094:T:C
Gene:: TAF5 (Varview), ATP5MK (Varview)
Functional Consequence:: 500B_downstream_variant,3_prime_UTR_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.103389095T>C, NC_000010.10:g.105148852T>C, NM_032747.4:c.*75A>G, NM_032747.3:c.*75A>G, XM_024448237.2:c.*75A>G, XM_024448237.1:c.*75A>G, NM_001206427.2:c.*75A>G, NM_001206427.1:c.*75A>G, NM_001206426.2:c.*75A>G, NM_001206426.1:c.*75A>G

Select item 14889178496.

rs1488917849 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:103397263 (GRCh38)
10:105157020 (GRCh37)
Canonical SPDI:: NC_000010.11:103397262:G:T
Gene:: PDCD11 (Varview), ATP5MK (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00034/4 (ALFA)
T=0.01437/42 (KOREAN)
HGVS:: NC_000010.11:g.103397263G>T, NC_000010.10:g.105157020G>T

Select item 14879887997.

rs1487988799 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:103390381 (GRCh38)
10:105150138 (GRCh37)
Canonical SPDI:: NC_000010.11:103390380:C:T
Gene:: ATP5MK (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_000010.11:g.103390381C>T, NC_000010.10:g.105150138C>T

Select item 14879310258.

rs1487931025 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 10:103396696 (GRCh38)
10:105156453 (GRCh37)
Canonical SPDI:: NC_000010.11:103396695:G:A,NC_000010.11:103396695:G:C,NC_000010.11:103396695:G:T
Gene:: PDCD11 (Varview), ATP5MK (Varview)
Functional Consequence:: 5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,splice_donor_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000010.11:g.103396696G>A, NC_000010.11:g.103396696G>C, NC_000010.11:g.103396696G>T, NC_000010.10:g.105156453G>A, NC_000010.10:g.105156453G>C, NC_000010.10:g.105156453G>T, XM_005269647.4:c.-46G>A, XM_005269647.4:c.-46G>C, XM_005269647.4:c.-46G>T, XM_005269647.3:c.-46G>A, XM_005269647.3:c.-46G>C, XM_005269647.3:c.-46G>T, XM_005269647.2:c.-46G>A, XM_005269647.2:c.-46G>C, XM_005269647.2:c.-46G>T, XM_005269647.1:c.-46G>A, XM_005269647.1:c.-46G>C, XM_005269647.1:c.-46G>T, NM_014976.2:c.-46G>A, NM_014976.2:c.-46G>C, NM_014976.2:c.-46G>T, NM_014976.1:c.-46G>A, NM_014976.1:c.-46G>C, NM_014976.1:c.-46G>T

Select item 14878294119.

rs1487829411 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:103390232 (GRCh38)
10:105149989 (GRCh37)
Canonical SPDI:: NC_000010.11:103390231:C:T
Gene:: ATP5MK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000010.11:g.103390232C>T, NC_000010.10:g.105149989C>T

Select item 148758729510.

rs1487587295 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:103393441 (GRCh38)
10:105153198 (GRCh37)
Canonical SPDI:: NC_000010.11:103393440:G:A
Gene:: ATP5MK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000034/9 (TOPMED)
HGVS:: NC_000010.11:g.103393441G>A, NC_000010.10:g.105153198G>A

Select item 148750576411.

rs1487505764 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 10:103389345 (GRCh38)
10:105149103 (GRCh37)
Canonical SPDI:: NC_000010.11:103389345:A:AA
Gene:: TAF5 (Varview), ATP5MK (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.103389346dup, NC_000010.10:g.105149103dup

Select item 148746627012.

rs1487466270 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:103396592 (GRCh38)
10:105156349 (GRCh37)
Canonical SPDI:: NC_000010.11:103396591:A:G
Gene:: PDCD11 (Varview), ATP5MK (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000010.11:g.103396592A>G, NC_000010.10:g.105156349A>G

Select item 148659074013.

rs1486590740 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 10:103396978 (GRCh38)
10:105156736 (GRCh37)
Canonical SPDI:: NC_000010.11:103396978::C
Gene:: PDCD11 (Varview), ATP5MK (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
C=0.000106/2 (TOMMO)
HGVS:: NC_000010.11:g.103396978_103396979insC, NC_000010.10:g.105156735_105156736insC

Select item 148655904514.

rs1486559045 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:103397159 (GRCh38)
10:105156916 (GRCh37)
Canonical SPDI:: NC_000010.11:103397158:C:T
Gene:: PDCD11 (Varview), ATP5MK (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000068/18 (TOPMED)
T=0.000086/12 (GnomAD)
HGVS:: NC_000010.11:g.103397159C>T, NC_000010.10:g.105156916C>T

Select item 148644190915.

rs1486441909 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 10:103395350 (GRCh38)
10:105155107 (GRCh37)
Canonical SPDI:: NC_000010.11:103395349:T:C,NC_000010.11:103395349:T:G
Gene:: PDCD11 (Varview), ATP5MK (Varview), MIR1307 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.103395350T>C, NC_000010.11:g.103395350T>G, NC_000010.10:g.105155107T>C, NC_000010.10:g.105155107T>G

Select item 148623279416.

rs1486232794 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:103396378 (GRCh38)
10:105156135 (GRCh37)
Canonical SPDI:: NC_000010.11:103396377:G:A
Gene:: PDCD11 (Varview), ATP5MK (Varview), MIR1307 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000566/9 (TOMMO)
A=0.002735/5 (Korea1K)
A=0.004112/12 (KOREAN)
HGVS:: NC_000010.11:g.103396378G>A, NC_000010.10:g.105156135G>A

Select item 148595931417.

rs1485959314 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:103390266 (GRCh38)
10:105150023 (GRCh37)
Canonical SPDI:: NC_000010.11:103390265:T:G
Gene:: ATP5MK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.0104/19 (Korea1K)
HGVS:: NC_000010.11:g.103390266T>G, NC_000010.10:g.105150023T>G

Select item 148583567918.

rs1485835679 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:103395342 (GRCh38)
10:105155099 (GRCh37)
Canonical SPDI:: NC_000010.11:103395341:G:C
Gene:: PDCD11 (Varview), ATP5MK (Varview), MIR1307 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.103395342G>C, NC_000010.10:g.105155099G>C

Select item 148583369819.

rs1485833698 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 10:103394358 (GRCh38)
10:105154115 (GRCh37)
Canonical SPDI:: NC_000010.11:103394357:T:C,NC_000010.11:103394357:T:G
Gene:: ATP5MK (Varview), MIR1307 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
G=0.001092/2 (Korea1K)
HGVS:: NC_000010.11:g.103394358T>C, NC_000010.11:g.103394358T>G, NC_000010.10:g.105154115T>C, NC_000010.10:g.105154115T>G, NM_032747.4:c.-169A>G, NM_032747.4:c.-169A>C, NM_032747.3:c.-169A>G, NM_032747.3:c.-169A>C, XM_024448237.2:c.-169A>G, XM_024448237.2:c.-169A>C, XM_024448237.1:c.-169A>G, XM_024448237.1:c.-169A>C, NR_031707.1:n.44A>G, NR_031707.1:n.44A>C

Select item 148550511320.

rs1485505113 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:103395239 (GRCh38)
10:105154996 (GRCh37)
Canonical SPDI:: NC_000010.11:103395238:C:T
Gene:: PDCD11 (Varview), ATP5MK (Varview), MIR1307 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.103395239C>T, NC_000010.10:g.105154996C>T

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