Links from Gene
Items: 1 to 20 of 4716
1.
rs1491301407 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 10:4970972
(GRCh38)
10:5013165
(GRCh37)
- Canonical SPDI:
- NC_000010.11:4970972::C
- Gene:
- AKR1C1 (Varview), LOC124902365 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.003456/41
(
ALFA)
C=0.003877/540
(GnomAD)
- HGVS:
2.
rs1490872443 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 10:4969211
(GRCh38)
10:5011403
(GRCh37)
- Canonical SPDI:
- NC_000010.11:4969210:C:T
- Gene:
- AKR1C1 (Varview)
- Functional Consequence:
- 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:
3.
rs1490807453 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 10:4974286
(GRCh38)
10:5016478
(GRCh37)
- Canonical SPDI:
- NC_000010.11:4974285:T:G
- Gene:
- AKR1C1 (Varview), LOC124902365 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
4.
rs1490781738 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 10:4975198
(GRCh38)
10:5017390
(GRCh37)
- Canonical SPDI:
- NC_000010.11:4975197:A:G
- Gene:
- AKR1C1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
5.
rs1490730298 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 10:4969294
(GRCh38)
10:5011486
(GRCh37)
- Canonical SPDI:
- NC_000010.11:4969293:A:C,NC_000010.11:4969293:A:G
- Gene:
- AKR1C1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000324/6
(
ALFA)
C=0.000068/18
(TOPMED)
- HGVS:
6.
rs1490566561 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 10:4968629
(GRCh38)
10:5010821
(GRCh37)
- Canonical SPDI:
- NC_000010.11:4968628:C:T
- Gene:
- AKR1C1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000034/9
(TOPMED)
T=0.000043/6
(GnomAD)
C=0.5/1
(SGDP_PRJ)
- HGVS:
7.
rs1490534086 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 10:4961662
(GRCh38)
10:5003854
(GRCh37)
- Canonical SPDI:
- NC_000010.11:4961661:C:A,NC_000010.11:4961661:C:T
- Gene:
- AKR1C1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
T=0.000071/1
(TOMMO)
- HGVS:
8.
rs1490432294 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 10:4968052
(GRCh38)
10:5010244
(GRCh37)
- Canonical SPDI:
- NC_000010.11:4968051:G:C
- Gene:
- AKR1C1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
9.
rs1490314881 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 10:4973905
(GRCh38)
10:5016097
(GRCh37)
- Canonical SPDI:
- NC_000010.11:4973904:A:C
- Gene:
- AKR1C1 (Varview), LOC124902365 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.001179/17
(
ALFA)
C=0.000582/154
(TOPMED)
C=0.001316/92
(GnomAD)
C=0.002283/1
(NorthernSweden)
- HGVS:
10.
rs1490289415 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 10:4974797
(GRCh38)
10:5016989
(GRCh37)
- Canonical SPDI:
- NC_000010.11:4974796:T:A
- Gene:
- AKR1C1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000019/5
(TOPMED)
- HGVS:
12.
rs1489824902 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 10:4973593
(GRCh38)
10:5015785
(GRCh37)
- Canonical SPDI:
- NC_000010.11:4973592:C:T
- Gene:
- AKR1C1 (Varview), LOC124902365 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
13.
rs1489688717 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 10:4976022
(GRCh38)
10:5018214
(GRCh37)
- Canonical SPDI:
- NC_000010.11:4976021:C:G
- Gene:
- AKR1C1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000009/1
(GnomAD)
- HGVS:
14.
rs1489582589 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 10:4963687
(GRCh38)
10:5005879
(GRCh37)
- Canonical SPDI:
- NC_000010.11:4963686:C:G,NC_000010.11:4963686:C:T
- Gene:
- AKR1C1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
15.
rs1489564413 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 10:4965145
(GRCh38)
10:5007337
(GRCh37)
- Canonical SPDI:
- NC_000010.11:4965144:C:A
- Gene:
- AKR1C1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
A=0.000007/1
(GnomAD)
- HGVS:
16.
rs1489447114 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 10:4973522
(GRCh38)
10:5015714
(GRCh37)
- Canonical SPDI:
- NC_000010.11:4973521:T:
- Gene:
- AKR1C1 (Varview), LOC124902365 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
17.
rs1489339981 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 10:4980166
(GRCh38)
10:5022358
(GRCh37)
- Canonical SPDI:
- NC_000010.11:4980165:T:C
- Gene:
- AKR1C1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
- HGVS:
18.
rs1489288630 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 10:4979374
(GRCh38)
10:5021566
(GRCh37)
- Canonical SPDI:
- NC_000010.11:4979373:C:
- Gene:
- AKR1C1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
20.
rs1489161280 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 10:4977183
(GRCh38)
10:5019375
(GRCh37)
- Canonical SPDI:
- NC_000010.11:4977182:T:C
- Gene:
- AKR1C1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS: