Links from Gene
Items: 1 to 20 of 1085
1.
rs1490987402 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:154424873
(GRCh38)
X:153653216
(GRCh37)
- Canonical SPDI:
- NC_000023.11:154424872:G:A
- Gene:
- ATP6AP1-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000026/7
(TOPMED)
A=0.000029/3
(GnomAD)
A=0.000225/3
(TOMMO)
A=0.001027/3
(KOREAN)
- HGVS:
2.
rs1488597145 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:154426936
(GRCh38)
X:153655281
(GRCh37)
- Canonical SPDI:
- NC_000023.11:154426935:G:A
- Gene:
- ATP6AP1 (Varview), ATP6AP1-DT (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000019/2
(GnomAD)
- HGVS:
3.
rs1488004512 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- X:154429747
(GRCh38)
X:153658094
(GRCh37)
- Canonical SPDI:
- NC_000023.11:154429747:T:TT
- Gene:
- ATP6AP1 (Varview), ATP6AP1-DT (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TT=0./0
(
ALFA)
T=0.000023/6
(TOPMED)
- HGVS:
4.
rs1487957382 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:154426039
(GRCh38)
X:153654384
(GRCh37)
- Canonical SPDI:
- NC_000023.11:154426038:C:T
- Gene:
- ATP6AP1-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00006/6
(GnomAD)
C=0.5/1
(SGDP_PRJ)
- HGVS:
5.
rs1487929719 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:154425467
(GRCh38)
X:153653810
(GRCh37)
- Canonical SPDI:
- NC_000023.11:154425466:T:C
- Gene:
- ATP6AP1-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000084/1
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.00002/2
(GnomAD)
- HGVS:
6.
rs1487868549 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:154426373
(GRCh38)
X:153654718
(GRCh37)
- Canonical SPDI:
- NC_000023.11:154426372:G:A
- Gene:
- ATP6AP1-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.00008/1
(
ALFA)
A=0.00002/2
(GnomAD)
- HGVS:
7.
rs1487594839 has merged into rs145023926 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTT>-,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- X:154425938
(GRCh38)
X:153654281
(GRCh37)
- Canonical SPDI:
- NC_000023.11:154425927:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000023.11:154425927:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000023.11:154425927:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000023.11:154425927:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000023.11:154425927:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000023.11:154425927:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000023.11:154425927:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000023.11:154425927:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000023.11:154425927:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000023.11:154425927:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:154425927:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:154425927:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:154425927:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:154425927:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:154425927:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:154425927:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:154425927:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:154425927:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:154425927:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:154425927:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:154425927:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:154425927:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:154425927:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:154425927:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:154425927:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ATP6AP1-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTT=0./0
(
ALFA)
TTT=0.06854/198
(ALSPAC)
TTT=0.07632/283
(TWINSUK)
- HGVS:
NC_000023.11:g.154425938_154425950del, NC_000023.11:g.154425940_154425950del, NC_000023.11:g.154425941_154425950del, NC_000023.11:g.154425943_154425950del, NC_000023.11:g.154425944_154425950del, NC_000023.11:g.154425945_154425950del, NC_000023.11:g.154425947_154425950del, NC_000023.11:g.154425948_154425950del, NC_000023.11:g.154425949_154425950del, NC_000023.11:g.154425950del, NC_000023.11:g.154425950dup, NC_000023.11:g.154425949_154425950dup, NC_000023.11:g.154425948_154425950dup, NC_000023.11:g.154425947_154425950dup, NC_000023.11:g.154425946_154425950dup, NC_000023.11:g.154425945_154425950dup, NC_000023.11:g.154425944_154425950dup, NC_000023.11:g.154425943_154425950dup, NC_000023.11:g.154425942_154425950dup, NC_000023.11:g.154425941_154425950dup, NC_000023.11:g.154425940_154425950dup, NC_000023.11:g.154425936_154425950dup, NC_000023.11:g.154425935_154425950dup, NC_000023.11:g.154425934_154425950dup, NC_000023.11:g.154425950_154425951insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_003871103.3:g.1859917_1859929del, NW_003871103.3:g.1859919_1859929del, NW_003871103.3:g.1859920_1859929del, NW_003871103.3:g.1859922_1859929del, NW_003871103.3:g.1859923_1859929del, NW_003871103.3:g.1859924_1859929del, NW_003871103.3:g.1859926_1859929del, NW_003871103.3:g.1859927_1859929del, NW_003871103.3:g.1859928_1859929del, NW_003871103.3:g.1859929del, NW_003871103.3:g.1859929dup, NW_003871103.3:g.1859928_1859929dup, NW_003871103.3:g.1859927_1859929dup, NW_003871103.3:g.1859926_1859929dup, NW_003871103.3:g.1859925_1859929dup, NW_003871103.3:g.1859924_1859929dup, NW_003871103.3:g.1859923_1859929dup, NW_003871103.3:g.1859922_1859929dup, NW_003871103.3:g.1859921_1859929dup, NW_003871103.3:g.1859920_1859929dup, NW_003871103.3:g.1859919_1859929dup, NW_003871103.3:g.1859915_1859929dup, NW_003871103.3:g.1859914_1859929dup, NW_003871103.3:g.1859913_1859929dup, NW_003871103.3:g.1859929_1859930insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_052807.1:g.2307_2319del, NG_052807.1:g.2309_2319del, NG_052807.1:g.2310_2319del, NG_052807.1:g.2312_2319del, NG_052807.1:g.2313_2319del, NG_052807.1:g.2314_2319del, NG_052807.1:g.2316_2319del, NG_052807.1:g.2317_2319del, NG_052807.1:g.2318_2319del, NG_052807.1:g.2319del, NG_052807.1:g.2319dup, NG_052807.1:g.2318_2319dup, NG_052807.1:g.2317_2319dup, NG_052807.1:g.2316_2319dup, NG_052807.1:g.2315_2319dup, NG_052807.1:g.2314_2319dup, NG_052807.1:g.2313_2319dup, NG_052807.1:g.2312_2319dup, NG_052807.1:g.2311_2319dup, NG_052807.1:g.2310_2319dup, NG_052807.1:g.2309_2319dup, NG_052807.1:g.2305_2319dup, NG_052807.1:g.2304_2319dup, NG_052807.1:g.2303_2319dup, NG_052807.1:g.2319_2320insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.10:g.153654283_153654295del, NC_000023.10:g.153654285_153654295del, NC_000023.10:g.153654286_153654295del, NC_000023.10:g.153654288_153654295del, NC_000023.10:g.153654289_153654295del, NC_000023.10:g.153654290_153654295del, NC_000023.10:g.153654292_153654295del, NC_000023.10:g.153654293_153654295del, NC_000023.10:g.153654294_153654295del, NC_000023.10:g.153654295del, NC_000023.10:g.153654295dup, NC_000023.10:g.153654294_153654295dup, NC_000023.10:g.153654293_153654295dup, NC_000023.10:g.153654292_153654295dup, NC_000023.10:g.153654291_153654295dup, NC_000023.10:g.153654290_153654295dup, NC_000023.10:g.153654289_153654295dup, NC_000023.10:g.153654288_153654295dup, NC_000023.10:g.153654287_153654295dup, NC_000023.10:g.153654286_153654295dup, NC_000023.10:g.153654285_153654295dup, NC_000023.10:g.153654281_153654295dup, NC_000023.10:g.153654280_153654295dup, NC_000023.10:g.153654279_153654295dup, NC_000023.10:g.153654295_153654296insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
8.
rs1486772944 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:154430071
(GRCh38)
X:153658417
(GRCh37)
- Canonical SPDI:
- NC_000023.11:154430070:C:T
- Gene:
- ATP6AP1 (Varview), ATP6AP1-DT (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00003/8
(TOPMED)
- HGVS:
9.
rs1486633271 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:154428253
(GRCh38)
X:153656599
(GRCh37)
- Canonical SPDI:
- NC_000023.11:154428252:A:G
- Gene:
- ATP6AP1 (Varview), ATP6AP1-DT (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
10.
rs1486556240 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:154428628
(GRCh38)
X:153656974
(GRCh37)
- Canonical SPDI:
- NC_000023.11:154428627:G:A
- Gene:
- ATP6AP1 (Varview), ATP6AP1-DT (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000026/7
(TOPMED)
A=0.00009/1
(TOMMO)
- HGVS:
11.
rs1485577622 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:154428072
(GRCh38)
X:153656418
(GRCh37)
- Canonical SPDI:
- NC_000023.11:154428071:A:G
- Gene:
- ATP6AP1 (Varview), ATP6AP1-DT (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000015/4
(TOPMED)
G=0.000019/2
(GnomAD)
- HGVS:
12.
rs1484965917 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:154424669
(GRCh38)
X:153653012
(GRCh37)
- Canonical SPDI:
- NC_000023.11:154424668:T:C
- Gene:
- ATP6AP1-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.00001/1
(GnomAD)
- HGVS:
13.
rs1484482462 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:154429325
(GRCh38)
X:153657671
(GRCh37)
- Canonical SPDI:
- NC_000023.11:154429324:G:A
- Gene:
- ATP6AP1 (Varview), ATP6AP1-DT (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000017/1
(GnomAD_exomes)
- HGVS:
14.
rs1483647629 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:154426638
(GRCh38)
X:153654983
(GRCh37)
- Canonical SPDI:
- NC_000023.11:154426637:A:G
- Gene:
- ATP6AP1-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
15.
rs1483212816 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:154426731
(GRCh38)
X:153655076
(GRCh37)
- Canonical SPDI:
- NC_000023.11:154426730:C:T
- Gene:
- ATP6AP1 (Varview), ATP6AP1-DT (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00001/1
(GnomAD)
T=0.000026/7
(TOPMED)
- HGVS:
16.
rs1483000866 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:154425861
(GRCh38)
X:153654204
(GRCh37)
- Canonical SPDI:
- NC_000023.11:154425860:G:A
- Gene:
- ATP6AP1-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000026/7
(TOPMED)
A=0.00003/3
(GnomAD)
- HGVS:
17.
rs1481497250 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:154424976
(GRCh38)
X:153653319
(GRCh37)
- Canonical SPDI:
- NC_000023.11:154424975:C:T
- Gene:
- ATP6AP1-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.00001/1
(GnomAD)
- HGVS:
18.
rs1479297419 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- X:154426093
(GRCh38)
X:153654438
(GRCh37)
- Canonical SPDI:
- NC_000023.11:154426092:T:A,NC_000023.11:154426092:T:C
- Gene:
- ATP6AP1-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.00031/5
(
ALFA)
C=0.00031/4
(TOMMO)
C=0.00062/3
(1000Genomes)
C=0.04598/134
(KOREAN)
- HGVS:
19.
rs1477895347 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:154426436
(GRCh38)
X:153654781
(GRCh37)
- Canonical SPDI:
- NC_000023.11:154426435:C:T
- Gene:
- ATP6AP1-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00003/3
(GnomAD)
- HGVS:
20.
rs1477350962 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- X:154426452
(GRCh38)
X:153654797
(GRCh37)
- Canonical SPDI:
- NC_000023.11:154426451:C:
- Gene:
- ATP6AP1-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00086/19
(TOMMO)
- HGVS: