Links from Nucleotide
Items: 1 to 20 of 211
1.
rs1490307808 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 4:55366682
(GRCh38)
4:56232849
(GRCh37)
- Canonical SPDI:
- NC_000004.12:55366678:TCTCT:TCT
- Gene:
- SRD5A3 (Varview), SRD5A3-AS1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TCT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
2.
rs1487449140 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 4:55366675
(GRCh38)
4:56232842
(GRCh37)
- Canonical SPDI:
- NC_000004.12:55366674:T:A
- Gene:
- SRD5A3 (Varview), SRD5A3-AS1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
3.
rs1483206643 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 4:55377632
(GRCh38)
4:56243799
(GRCh37)
- Canonical SPDI:
- NC_000004.12:55377631:C:G
- Gene:
- SRD5A3-AS1 (Varview), LINC02928 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
5.
rs1479906320 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:55377609
(GRCh38)
4:56243776
(GRCh37)
- Canonical SPDI:
- NC_000004.12:55377608:C:T
- Gene:
- SRD5A3-AS1 (Varview), LINC02928 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
6.
rs1478866880 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:55374930
(GRCh38)
4:56241097
(GRCh37)
- Canonical SPDI:
- NC_000004.12:55374929:A:G
- Gene:
- SRD5A3-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
7.
rs1478567216 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 4:55367137
(GRCh38)
4:56233304
(GRCh37)
- Canonical SPDI:
- NC_000004.12:55367129:AGAGAGAGA:AGAGAGA
- Gene:
- SRD5A3 (Varview), SRD5A3-AS1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAGAGA=0./0
(
ALFA)
-=0./0
(GnomAD)
-=0.000004/1
(TOPMED)
- HGVS:
8.
rs1477323308 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:55374906
(GRCh38)
4:56241073
(GRCh37)
- Canonical SPDI:
- NC_000004.12:55374905:C:T
- Gene:
- SRD5A3-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
T=0.00004/1
(TOMMO)
- HGVS:
9.
rs1475279660 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 4:55367113
(GRCh38)
4:56233280
(GRCh37)
- Canonical SPDI:
- NC_000004.12:55367112:T:A
- Gene:
- SRD5A3 (Varview), SRD5A3-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
10.
rs1472062059 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 4:55367007
(GRCh38)
4:56233174
(GRCh37)
- Canonical SPDI:
- NC_000004.12:55367006:TTT:TT
- Gene:
- SRD5A3 (Varview), SRD5A3-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
11.
rs1471489728 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:55367065
(GRCh38)
4:56233232
(GRCh37)
- Canonical SPDI:
- NC_000004.12:55367064:T:C
- Gene:
- SRD5A3 (Varview), SRD5A3-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000023/6
(TOPMED)
C=0.000036/5
(GnomAD)
- HGVS:
12.
rs1470739948 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 4:55385558
(GRCh38)
4:56251725
(GRCh37)
- Canonical SPDI:
- NC_000004.12:55385557:G:C
- Gene:
- SRD5A3-AS1 (Varview), LINC02928 (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=0.000014/2
(GnomAD)
- HGVS:
13.
rs1468013615 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 4:55366704
(GRCh38)
4:56232871
(GRCh37)
- Canonical SPDI:
- NC_000004.12:55366703:G:A,NC_000004.12:55366703:G:C
- Gene:
- SRD5A3 (Varview), SRD5A3-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
- HGVS:
14.
rs1467721396 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 4:55374921
(GRCh38)
4:56241088
(GRCh37)
- Canonical SPDI:
- NC_000004.12:55374920:G:A,NC_000004.12:55374920:G:T
- Gene:
- SRD5A3-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.00008/1
(
ALFA)
A=0.00001/1
(GnomAD)
T=0.00212/9
(Estonian)
T=0.00857/25
(KOREAN)
- HGVS:
15.
rs1465485370 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 4:55377767
(GRCh38)
4:56243934
(GRCh37)
- Canonical SPDI:
- NC_000004.12:55377766:A:C
- Gene:
- SRD5A3-AS1 (Varview), LINC02928 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
17.
rs1451827825 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 4:55374874
(GRCh38)
4:56241041
(GRCh37)
- Canonical SPDI:
- NC_000004.12:55374873:CCC:CC
- Gene:
- SRD5A3-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
18.
rs1444501863 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 4:55366918
(GRCh38)
4:56233086
(GRCh37)
- Canonical SPDI:
- NC_000004.12:55366918:G:GG
- Gene:
- SRD5A3 (Varview), SRD5A3-AS1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GG=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
19.
rs1443219175 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 4:55374923
(GRCh38)
4:56241090
(GRCh37)
- Canonical SPDI:
- NC_000004.12:55374922:A:T
- Gene:
- SRD5A3-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.0007/3
(
ALFA)
T=0.0007/3
(Estonian)
- HGVS:
20.
rs1441103808 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:55374949
(GRCh38)
4:56241116
(GRCh37)
- Canonical SPDI:
- NC_000004.12:55374948:A:G
- Gene:
- SRD5A3-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS: