Links from Nucleotide
Items: 1 to 20 of 332
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:
4.
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:
5.
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:
6.
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:
7.
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:
8.
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:
9.
rs1473978921 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:112924160
(GRCh38)
1:113466782
(GRCh37)
- Canonical SPDI:
- NC_000001.11:112924159: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=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
10.
rs1473576497 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:112923536
(GRCh38)
1:113466158
(GRCh37)
- Canonical SPDI:
- NC_000001.11:112923535:G:A
- Gene:
- SLC16A1 (Varview), AKR7A2P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
11.
rs1469621439 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:112924582
(GRCh38)
1:113467204
(GRCh37)
- Canonical SPDI:
- NC_000001.11:112924581:C:T
- Gene:
- SLC16A1 (Varview), AKR7A2P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000026/7
(TOPMED)
- HGVS:
12.
rs1468617510 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 1:112924586
(GRCh38)
1:113467208
(GRCh37)
- Canonical SPDI:
- NC_000001.11:112924585:A:C
- Gene:
- SLC16A1 (Varview), AKR7A2P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
13.
rs1467288248 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:112924142
(GRCh38)
1:113466764
(GRCh37)
- Canonical SPDI:
- NC_000001.11:112924141: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=0.000008/2
(TOPMED)
T=0.000035/1
(TOMMO)
- HGVS:
14.
rs1465953089 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:112923675
(GRCh38)
1:113466297
(GRCh37)
- Canonical SPDI:
- NC_000001.11:112923674: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./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
15.
rs1464665642 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 1:112924216
(GRCh38)
1:113466838
(GRCh37)
- Canonical SPDI:
- NC_000001.11:112924215:T: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=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
16.
rs1460302344 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:112923987
(GRCh38)
1:113466609
(GRCh37)
- Canonical SPDI:
- NC_000001.11:112923986:C:T
- Gene:
- SLC16A1 (Varview), AKR7A2P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
17.
rs1451986258 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 1:112923573
(GRCh38)
1:113466195
(GRCh37)
- Canonical SPDI:
- NC_000001.11:112923572:T:A,NC_000001.11:112923572:T:C
- Gene:
- SLC16A1 (Varview), AKR7A2P1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
A=0.000177/3
(TOMMO)
- HGVS:
19.
rs1449270647 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:112923385
(GRCh38)
1:113466007
(GRCh37)
- Canonical SPDI:
- NC_000001.11:112923384: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=0.000007/1
(GnomAD)
C=0.000011/3
(TOPMED)
- HGVS:
20.
rs1447436816 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 1:112923873
(GRCh38)
1:113466495
(GRCh37)
- Canonical SPDI:
- NC_000001.11:112923872:C:A,NC_000001.11:112923872: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=0.000011/3
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS: