Links from Gene
Items: 1 to 20 of 931
1.
rs1488738173 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 16:67485599
(GRCh38)
16:67519502
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67485598:T:G
- Gene:
- ATP6V0D1-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0.0066/12
(Korea1K)
G=0.0301/88
(KOREAN)
- HGVS:
2.
rs1487537785 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:67482440
(GRCh38)
16:67516343
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67482439:G:A
- Gene:
- AGRP (Varview), ATP6V0D1 (Varview), ATP6V0D1-DT (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
3.
rs1486265996 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 16:67485080
(GRCh38)
16:67518983
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67485078:ACA:A
- Gene:
- AGRP (Varview), ATP6V0D1-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
4.
rs1485873372 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 16:67482869
(GRCh38)
16:67516772
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67482868:T:A
- Gene:
- AGRP (Varview), ATP6V0D1 (Varview), ATP6V0D1-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
6.
rs1483701945 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:67484914
(GRCh38)
16:67518817
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67484913:A:G
- Gene:
- AGRP (Varview), ATP6V0D1-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000021/3
(GnomAD)
G=0.000023/6
(TOPMED)
- HGVS:
7.
rs1482346920 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:67482989
(GRCh38)
16:67516892
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67482988:A:G
- Gene:
- AGRP (Varview), ATP6V0D1 (Varview), ATP6V0D1-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
8.
rs1481888081 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:67485360
(GRCh38)
16:67519263
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67485359:C:T
- Gene:
- AGRP (Varview), ATP6V0D1-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
9.
rs1480367718 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:67484610
(GRCh38)
16:67518513
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67484609:C:T
- Gene:
- AGRP (Varview), ATP6V0D1-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000035/1
(TOMMO)
T=0.000546/1
(Korea1K)
T=0.000684/2
(KOREAN)
- HGVS:
10.
rs1480184252 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 16:67483776
(GRCh38)
16:67517679
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67483775:GGG:GG
- Gene:
- AGRP (Varview), ATP6V0D1-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GG=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000015/4
(TOPMED)
- HGVS:
11.
rs1479391627 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 16:67485072
(GRCh38)
16:67518975
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67485071:C:G
- Gene:
- AGRP (Varview), ATP6V0D1-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
12.
rs1478732518 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:67483988
(GRCh38)
16:67517891
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67483987:G:A
- Gene:
- AGRP (Varview), ATP6V0D1-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
13.
rs1478557125 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:67484574
(GRCh38)
16:67518477
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67484573:C:T
- Gene:
- AGRP (Varview), ATP6V0D1-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
14.
rs1478227609 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 16:67482613
(GRCh38)
16:67516516
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67482612:G:A,NC_000016.10:67482612:G:T
- Gene:
- AGRP (Varview), ATP6V0D1 (Varview), ATP6V0D1-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
A=0.000007/1
(GnomAD)
- HGVS:
NC_000016.10:g.67482613G>A, NC_000016.10:g.67482613G>T, NC_000016.9:g.67516516G>A, NC_000016.9:g.67516516G>T, NG_011482.1:g.3574C>T, NG_011482.1:g.3574C>A, NG_011501.1:g.6201C>T, NG_011501.1:g.6201C>A, NM_001138.2:c.*23C>T, NM_001138.2:c.*23C>A, NM_001138.1:c.*23C>T, NM_001138.1:c.*23C>A, XM_047433694.1:c.*23C>T, XM_047433694.1:c.*23C>A, NM_007316.1:c.*23C>T, NM_007316.1:c.*23C>A
15.
rs1477100645 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 16:67483511
(GRCh38)
16:67517414
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67483510:A:C
- Gene:
- AGRP (Varview), ATP6V0D1-DT (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
16.
rs1476394754 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:67482570
(GRCh38)
16:67516473
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67482569:G:A
- Gene:
- AGRP (Varview), ATP6V0D1 (Varview), ATP6V0D1-DT (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000671/3
(
ALFA)
A=0.000036/5
(GnomAD)
A=0.000893/4
(Estonian)
- HGVS:
17.
rs1475576131 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 16:67484152
(GRCh38)
16:67518055
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67484151:C:G
- Gene:
- AGRP (Varview), ATP6V0D1-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000142/2
(
ALFA)
G=0.00003/8
(TOPMED)
G=0.000036/5
(GnomAD)
- HGVS:
NC_000016.10:g.67484152C>G, NC_000016.9:g.67518055C>G, NG_011482.1:g.2035G>C, NG_011501.1:g.4662G>C, XR_933691.3:n.169C>G, XR_933691.2:n.244C>G, XR_933691.1:n.241C>G, XR_001752246.2:n.169C>G, XR_001752246.1:n.236C>G, XR_001752248.2:n.169C>G, XR_001752248.1:n.238C>G, XR_001752247.2:n.169C>G, XR_001752247.1:n.236C>G, XR_001752250.2:n.169C>G, XR_001752250.1:n.236C>G, XR_001752249.2:n.169C>G, XR_001752249.1:n.236C>G
18.
rs1474863695 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 16:67483890
(GRCh38)
16:67517793
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67483889:C:G
- Gene:
- AGRP (Varview), ATP6V0D1-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
19.
rs1474716990 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 16:67484755
(GRCh38)
16:67518658
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67484754:C:G
- Gene:
- AGRP (Varview), ATP6V0D1-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
20.
rs1474173149 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:67485663
(GRCh38)
16:67519566
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67485662:A:G
- Gene:
- ATP6V0D1-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS: