SNP Links for Gene (Select 90423) - SNP

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Select item 14914104441.

rs1491410444 has merged into rs36060544 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 2:46516750 (GRCh38)
2:46743889 (GRCh37)
Canonical SPDI:: NC_000002.12:46516740:AAAAAAAAAAA:AAAAAAAAA,NC_000002.12:46516740:AAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:46516740:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:46516740:AAAAAAAAAAA:AAAAAAAAAAAAA
Gene:: ATP6V1E2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.46516750_46516751del, NC_000002.12:g.46516751del, NC_000002.12:g.46516751dup, NC_000002.12:g.46516750_46516751dup, NC_000002.11:g.46743889_46743890del, NC_000002.11:g.46743890del, NC_000002.11:g.46743890dup, NC_000002.11:g.46743889_46743890dup

Select item 14909135782.

rs1490913578 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:46515125 (GRCh38)
2:46742264 (GRCh37)
Canonical SPDI:: NC_000002.12:46515124:T:C
Gene:: ATP6V1E2 (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_000002.12:g.46515125T>C, NC_000002.11:g.46742264T>C

Select item 14907354983.

rs1490735498 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:46516434 (GRCh38)
2:46743573 (GRCh37)
Canonical SPDI:: NC_000002.12:46516433:T:G
Gene:: ATP6V1E2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.46516434T>G, NC_000002.11:g.46743573T>G

Select item 14906657704.

rs1490665770 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:46529488 (GRCh38)
2:46756627 (GRCh37)
Canonical SPDI:: NC_000002.12:46529487:C:T
Gene:: ATP6V1E2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.00006/1 (TOMMO)
HGVS:: NC_000002.12:g.46529488C>T, NC_000002.11:g.46756627C>T

Select item 14904310515.

rs1490431051 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:46523920 (GRCh38)
2:46751059 (GRCh37)
Canonical SPDI:: NC_000002.12:46523919:G:A
Gene:: ATP6V1E2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.46523920G>A, NC_000002.11:g.46751059G>A

Select item 14903748446.

rs1490374844 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:46523010 (GRCh38)
2:46750149 (GRCh37)
Canonical SPDI:: NC_000002.12:46523009:T:C
Gene:: ATP6V1E2 (Varview)
Functional Consequence:: intron_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_000002.12:g.46523010T>C, NC_000002.11:g.46750149T>C

Select item 14903383437.

rs1490338343 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:46528474 (GRCh38)
2:46755613 (GRCh37)
Canonical SPDI:: NC_000002.12:46528473:T:C
Gene:: ATP6V1E2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.46528474T>C, NC_000002.11:g.46755613T>C

Select item 14903136128.

rs1490313612 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:46527484 (GRCh38)
2:46754623 (GRCh37)
Canonical SPDI:: NC_000002.12:46527483:G:A,NC_000002.12:46527483:G:C
Gene:: ATP6V1E2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.46527484G>A, NC_000002.12:g.46527484G>C, NC_000002.11:g.46754623G>A, NC_000002.11:g.46754623G>C

Select item 14903073929.

rs1490307392 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:46529497 (GRCh38)
2:46756636 (GRCh37)
Canonical SPDI:: NC_000002.12:46529496:G:A
Gene:: ATP6V1E2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.46529497G>A, NC_000002.11:g.46756636G>A

Select item 149030293810.

rs1490302938 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:46522962 (GRCh38)
2:46750101 (GRCh37)
Canonical SPDI:: NC_000002.12:46522961:T:A
Gene:: ATP6V1E2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.46522962T>A, NC_000002.11:g.46750101T>A

Select item 149028529011.

rs1490285290 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:46541700 (GRCh38)
2:46768839 (GRCh37)
Canonical SPDI:: NC_000002.12:46541699:G:A
Gene:: RHOQ (Varview), ATP6V1E2 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,5_prime_UTR_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_000002.12:g.46541700G>A, NC_000002.11:g.46768839G>A, XM_011533152.4:c.-1498C>T, XM_011533152.3:c.-1498C>T, XM_011533152.2:c.-1498C>T, XM_011533148.4:c.-1426C>T, XM_011533148.3:c.-1426C>T, XM_011533148.2:c.-1426C>T, XM_011533148.1:c.-1426C>T, XM_011533149.4:c.-1319C>T, XM_011533149.3:c.-1319C>T, XM_011533149.2:c.-1319C>T, XM_011533149.1:c.-1319C>T, XM_011533151.4:c.-781C>T, XM_011533151.3:c.-781C>T, XM_011533151.2:c.-781C>T, XM_011533151.1:c.-781C>T, XM_047446255.1:c.-928C>T, NM_001371281.1:c.-799C>T, NM_001371282.1:c.-727C>T, XM_047446256.1:c.-692C>T, NM_001371283.1:c.-620C>T

Select item 149010212512.

rs1490102125 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:46523072 (GRCh38)
2:46750211 (GRCh37)
Canonical SPDI:: NC_000002.12:46523071:C:A
Gene:: ATP6V1E2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.46523072C>A, NC_000002.11:g.46750211C>A

Select item 148997916313.

rs1489979163 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:46529919 (GRCh38)
2:46757058 (GRCh37)
Canonical SPDI:: NC_000002.12:46529918:C:T
Gene:: ATP6V1E2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000132/2 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.000446/2 (Estonian)
HGVS:: NC_000002.12:g.46529919C>T, NC_000002.11:g.46757058C>T

Select item 148989455614.

rs1489894556 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:46525769 (GRCh38)
2:46752908 (GRCh37)
Canonical SPDI:: NC_000002.12:46525768:A:C
Gene:: ATP6V1E2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.46525769A>C, NC_000002.11:g.46752908A>C

Select item 148984904915.

rs1489849049 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:46528970 (GRCh38)
2:46756109 (GRCh37)
Canonical SPDI:: NC_000002.12:46528969:G:A
Gene:: ATP6V1E2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.46528970G>A, NC_000002.11:g.46756109G>A

Select item 148978108216.

rs1489781082 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:46521943 (GRCh38)
2:46749082 (GRCh37)
Canonical SPDI:: NC_000002.12:46521942:G:A
Gene:: ATP6V1E2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.46521943G>A, NC_000002.11:g.46749082G>A

Select item 148974959017.

rs1489749590 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:46541524 (GRCh38)
2:46768663 (GRCh37)
Canonical SPDI:: NC_000002.12:46541523:G:T
Gene:: RHOQ (Varview), ATP6V1E2 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000002.12:g.46541524G>T, NC_000002.11:g.46768663G>T, XM_011533152.4:c.-1322C>A, XM_011533152.3:c.-1322C>A, XM_011533152.2:c.-1322C>A, XM_011533148.4:c.-1250C>A, XM_011533148.3:c.-1250C>A, XM_011533148.2:c.-1250C>A, XM_011533148.1:c.-1250C>A, XM_011533149.4:c.-1143C>A, XM_011533149.3:c.-1143C>A, XM_011533149.2:c.-1143C>A, XM_011533149.1:c.-1143C>A, XM_011533151.4:c.-605C>A, XM_011533151.3:c.-605C>A, XM_011533151.2:c.-605C>A, XM_011533151.1:c.-605C>A, XM_047446255.1:c.-752C>A, NM_001371281.1:c.-623C>A, NM_001371282.1:c.-551C>A, XM_047446256.1:c.-516C>A, NM_001371283.1:c.-444C>A

Select item 148973059618.

rs1489730596 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 2:46542613 (GRCh38)
2:46769752 (GRCh37)
Canonical SPDI:: NC_000002.12:46542612:CCC:CC
Gene:: RHOQ (Varview), ATP6V1E2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.46542615del, NC_000002.11:g.46769754del, NM_012249.4:c.-432del, XM_011532726.3:c.-432del, XM_011532726.2:c.-432del, XM_005264229.3:c.-432del

Select item 148967049719.

rs1489670497 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:46521061 (GRCh38)
2:46748200 (GRCh37)
Canonical SPDI:: NC_000002.12:46521060:T:C
Gene:: ATP6V1E2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000029/4 (GnomAD)
C=0.00003/8 (TOPMED)
HGVS:: NC_000002.12:g.46521061T>C, NC_000002.11:g.46748200T>C

Select item 148965944020.

rs1489659440 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:46543287 (GRCh38)
2:46770426 (GRCh37)
Canonical SPDI:: NC_000002.12:46543286:C:T
Gene:: RHOQ (Varview), ATP6V1E2 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_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_000002.12:g.46543287C>T, NC_000002.11:g.46770426C>T

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