Links from Gene
Items: 1 to 20 of 1000
1.
rs1491048491 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 1:154322489
(GRCh38)
1:154294965
(GRCh37)
- Canonical SPDI:
- NC_000001.11:154322487:TCT:T
- Gene:
- AQP10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.00034/4
(
ALFA)
-=0.00007/1
(TOMMO)
-=0.00047/9
(GnomAD)
- HGVS:
2.
rs1490610336 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:154323740
(GRCh38)
1:154296216
(GRCh37)
- Canonical SPDI:
- NC_000001.11:154323739:A:G
- Gene:
- ATP8B2 (Varview), AQP10 (Varview)
- Functional Consequence:
- missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
NC_000001.11:g.154323740A>G, NC_000001.10:g.154296216A>G, XM_011510104.3:c.644A>G, XM_011510104.2:c.644A>G, XM_011510104.1:c.644A>G, NM_080429.3:c.641A>G, NM_080429.2:c.641A>G, XM_047433547.1:c.377A>G, XP_011508406.1:p.Asn215Ser, NP_536354.2:p.Asn214Ser, XP_047289503.1:p.Asn126Ser
3.
rs1490371592 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:154320474
(GRCh38)
1:154292950
(GRCh37)
- Canonical SPDI:
- NC_000001.11:154320473:G:A
- Gene:
- AQP10 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
4.
rs1489564791 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:154325219
(GRCh38)
1:154297695
(GRCh37)
- Canonical SPDI:
- NC_000001.11:154325218:C:A
- Gene:
- ATP8B2 (Varview), AQP10 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.00031/2
(1000Genomes)
- HGVS:
5.
rs1488792654 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:154324688
(GRCh38)
1:154297164
(GRCh37)
- Canonical SPDI:
- NC_000001.11:154324687:C:T
- Gene:
- ATP8B2 (Varview), AQP10 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
6.
rs1488007743 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:154320120
(GRCh38)
1:154292596
(GRCh37)
- Canonical SPDI:
- NC_000001.11:154320119:C:A
- Gene:
- AQP10 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
7.
rs1487255189 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:154325685
(GRCh38)
1:154298161
(GRCh37)
- Canonical SPDI:
- NC_000001.11:154325684:C:G
- Gene:
- ATP8B2 (Varview), AQP10 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000035/1
(TOMMO)
- HGVS:
8.
rs1485717082 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 1:154322508
(GRCh38)
1:154294984
(GRCh37)
- Canonical SPDI:
- NC_000001.11:154322507:C:
- Gene:
- AQP10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000015/2
(GnomAD)
- HGVS:
9.
rs1485694962 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:154320389
(GRCh38)
1:154292865
(GRCh37)
- Canonical SPDI:
- NC_000001.11:154320388:G:A
- Gene:
- AQP10 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000015/2
(GnomAD)
- HGVS:
10.
rs1485635327 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:154323161
(GRCh38)
1:154295637
(GRCh37)
- Canonical SPDI:
- NC_000001.11:154323160:G:A
- Gene:
- AQP10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
11.
rs1485309527 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:154324759
(GRCh38)
1:154297235
(GRCh37)
- Canonical SPDI:
- NC_000001.11:154324758:G:A
- Gene:
- ATP8B2 (Varview), AQP10 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
12.
rs1485290851 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:154325077
(GRCh38)
1:154297553
(GRCh37)
- Canonical SPDI:
- NC_000001.11:154325076:G:A
- Gene:
- ATP8B2 (Varview), AQP10 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000084/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
13.
rs1485166438 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:154323446
(GRCh38)
1:154295922
(GRCh37)
- Canonical SPDI:
- NC_000001.11:154323445:G:A
- Gene:
- AQP10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
14.
rs1484961235 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:154325316
(GRCh38)
1:154297792
(GRCh37)
- Canonical SPDI:
- NC_000001.11:154325315:C:G
- Gene:
- ATP8B2 (Varview), AQP10 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000015/4
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
15.
rs1484213851 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:154324529
(GRCh38)
1:154297005
(GRCh37)
- Canonical SPDI:
- NC_000001.11:154324528:C:A
- Gene:
- ATP8B2 (Varview), AQP10 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
16.
rs1484195091 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:154324966
(GRCh38)
1:154297442
(GRCh37)
- Canonical SPDI:
- NC_000001.11:154324965:G:A
- Gene:
- ATP8B2 (Varview), AQP10 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000019/5
(TOPMED)
A=0.000029/4
(GnomAD)
- HGVS:
17.
rs1484013735 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:154322584
(GRCh38)
1:154295060
(GRCh37)
- Canonical SPDI:
- NC_000001.11:154322583:C:G
- Gene:
- AQP10 (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:
18.
rs1483908563 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:154322891
(GRCh38)
1:154295367
(GRCh37)
- Canonical SPDI:
- NC_000001.11:154322890:G:C
- Gene:
- AQP10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000015/4
(TOPMED)
- HGVS:
19.
rs1483758994 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:154325343
(GRCh38)
1:154297819
(GRCh37)
- Canonical SPDI:
- NC_000001.11:154325342:T:C
- Gene:
- ATP8B2 (Varview), AQP10 (Varview)
- Functional Consequence:
- downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
20.
rs1483726313 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:154321723
(GRCh38)
1:154294199
(GRCh37)
- Canonical SPDI:
- NC_000001.11:154321722:G:A
- Gene:
- AQP10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS: