Links from Gene
Items: 1 to 20 of 913
1.
rs1489681240 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:112924042
(GRCh38)
1:113466664
(GRCh37)
- Canonical SPDI:
- NC_000001.11:112924041:T:C
- Gene:
- SLC16A1 (Varview), AKR7A2P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS:
2.
rs1489565844 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:112925006
(GRCh38)
1:113467628
(GRCh37)
- Canonical SPDI:
- NC_000001.11:112925005:C:T
- Gene:
- SLC16A1 (Varview), AKR7A2P1 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
3.
rs1488756772 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:112922813
(GRCh38)
1:113465435
(GRCh37)
- Canonical SPDI:
- NC_000001.11:112922812:A:G
- Gene:
- SLC16A1 (Varview), AKR7A2P1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000057/15
(TOPMED)
- HGVS:
4.
rs1485918012 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:112921422
(GRCh38)
1:113464044
(GRCh37)
- Canonical SPDI:
- NC_000001.11:112921421:A:G
- Gene:
- SLC16A1 (Varview), AKR7A2P1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
5.
rs1485762792 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 1:112922512
(GRCh38)
1:113465134
(GRCh37)
- Canonical SPDI:
- NC_000001.11:112922511:G:A,NC_000001.11:112922511:G:T
- Gene:
- SLC16A1 (Varview), AKR7A2P1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000019/5
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
7.
rs1484616362 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 1:112924827
(GRCh38)
1:113467449
(GRCh37)
- Canonical SPDI:
- NC_000001.11:112924826:A:C
- Gene:
- SLC16A1 (Varview), AKR7A2P1 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
9.
rs1483684940 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:112924130
(GRCh38)
1:113466752
(GRCh37)
- Canonical SPDI:
- NC_000001.11:112924129:C:A
- Gene:
- SLC16A1 (Varview), AKR7A2P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
10.
rs1482725642 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:112923479
(GRCh38)
1:113466101
(GRCh37)
- Canonical SPDI:
- NC_000001.11:112923478:G:A
- Gene:
- SLC16A1 (Varview), AKR7A2P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000015/4
(TOPMED)
A=0.000035/1
(TOMMO)
- HGVS:
11.
rs1482655754 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:112923901
(GRCh38)
1:113466523
(GRCh37)
- Canonical SPDI:
- NC_000001.11:112923900:C:T
- Gene:
- SLC16A1 (Varview), AKR7A2P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,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:
12.
rs1482605767 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:112922997
(GRCh38)
1:113465619
(GRCh37)
- Canonical SPDI:
- NC_000001.11:112922996:G:A
- Gene:
- SLC16A1 (Varview), AKR7A2P1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
A=0.00006/1
(TOMMO)
- HGVS:
13.
rs1481099842 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 1:112922482
(GRCh38)
1:113465104
(GRCh37)
- Canonical SPDI:
- NC_000001.11:112922481:T:C,NC_000001.11:112922481:T:G
- Gene:
- SLC16A1 (Varview), AKR7A2P1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
C=0.000071/1
(TOMMO)
- HGVS:
14.
rs1480790453 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATGA>-
[Show Flanks]
- Chromosome:
- 1:112922209
(GRCh38)
1:113464831
(GRCh37)
- Canonical SPDI:
- NC_000001.11:112922203:AATGAATGA:AATGA
- Gene:
- SLC16A1 (Varview), AKR7A2P1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AATGA=0./0
(
ALFA)
-=0.000021/3
(GnomAD)
-=0.000026/7
(TOPMED)
- HGVS:
15.
rs1480263750 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 1:112921835
(GRCh38)
1:113464457
(GRCh37)
- Canonical SPDI:
- NC_000001.11:112921834:T:A
- Gene:
- SLC16A1 (Varview), AKR7A2P1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000023/6
(TOPMED)
A=0.000029/4
(GnomAD)
- HGVS:
16.
rs1479290855 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:112923575
(GRCh38)
1:113466197
(GRCh37)
- Canonical SPDI:
- NC_000001.11:112923574:C:T
- Gene:
- SLC16A1 (Varview), AKR7A2P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000061/1
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
T=0.000223/1
(Estonian)
- HGVS:
17.
rs1477181212 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 1:112921473
(GRCh38)
1:113464095
(GRCh37)
- Canonical SPDI:
- NC_000001.11:112921472:A:G,NC_000001.11:112921472:A:T
- Gene:
- SLC16A1 (Varview), AKR7A2P1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
G=0.000177/3
(TOMMO)
- HGVS:
18.
rs1475147207 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:112924934
(GRCh38)
1:113467556
(GRCh37)
- Canonical SPDI:
- NC_000001.11:112924933:C:T
- Gene:
- SLC16A1 (Varview), AKR7A2P1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,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:
19.
rs1474851201 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:112921488
(GRCh38)
1:113464110
(GRCh37)
- Canonical SPDI:
- NC_000001.11:112921487:G:A
- Gene:
- SLC16A1 (Varview), AKR7A2P1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
20.
rs1474169364 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:112924465
(GRCh38)
1:113467087
(GRCh37)
- Canonical SPDI:
- NC_000001.11:112924464:A:G
- Gene:
- SLC16A1 (Varview), AKR7A2P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,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: