Links from Gene
Items: 1 to 20 of 6047
1.
rs1491419195 has merged into rs201006604 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAA>-,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 2:108241936
(GRCh38)
2:108858392
(GRCh37)
- Canonical SPDI:
- NC_000002.12:108241926:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000002.12:108241926:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:108241926:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:108241926:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:108241926:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:108241926:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:108241926:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:108241926:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:108241926:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:108241926:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:108241926:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- SULT1C3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
-=0.371/1858
(1000Genomes)
- HGVS:
NC_000002.12:g.108241936_108241945del, NC_000002.12:g.108241939_108241945del, NC_000002.12:g.108241941_108241945del, NC_000002.12:g.108241942_108241945del, NC_000002.12:g.108241943_108241945del, NC_000002.12:g.108241944_108241945del, NC_000002.12:g.108241945del, NC_000002.12:g.108241945dup, NC_000002.12:g.108241944_108241945dup, NC_000002.12:g.108241943_108241945dup, NC_000002.12:g.108241941_108241945dup, NC_000002.11:g.108858392_108858401del, NC_000002.11:g.108858395_108858401del, NC_000002.11:g.108858397_108858401del, NC_000002.11:g.108858398_108858401del, NC_000002.11:g.108858399_108858401del, NC_000002.11:g.108858400_108858401del, NC_000002.11:g.108858401del, NC_000002.11:g.108858401dup, NC_000002.11:g.108858400_108858401dup, NC_000002.11:g.108858399_108858401dup, NC_000002.11:g.108858397_108858401dup
5.
rs1490848706 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:108261452
(GRCh38)
2:108877908
(GRCh37)
- Canonical SPDI:
- NC_000002.12:108261451:T:C
- Gene:
- SULT1C3 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
6.
rs1490799328 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:108244234
(GRCh38)
2:108860690
(GRCh37)
- Canonical SPDI:
- NC_000002.12:108244233:A:G
- Gene:
- SULT1C3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
7.
rs1490797268 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 2:108241713
(GRCh38)
2:108858169
(GRCh37)
- Canonical SPDI:
- NC_000002.12:108241712:G:A,NC_000002.12:108241712:G:T
- Gene:
- SULT1C3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
8.
rs1490720901 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 2:108239390
(GRCh38)
2:108855846
(GRCh37)
- Canonical SPDI:
- NC_000002.12:108239389:C:G
- Gene:
- SULT1C3 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000084/1
(
ALFA)
G=0.000121/13
(GnomAD)
- HGVS:
9.
rs1490331901 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 2:108253557
(GRCh38)
2:108870013
(GRCh37)
- Canonical SPDI:
- NC_000002.12:108253556:A:C
- Gene:
- SULT1C3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
11.
rs1490285860 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATGTATATAT>-,ATGTATATATATGTATATAT
[Show Flanks]
- Chromosome:
- 2:108254725
(GRCh38)
2:108871181
(GRCh37)
- Canonical SPDI:
- NC_000002.12:108254713:TATGTATATATATGTATATAT:TATGTATATAT,NC_000002.12:108254713:TATGTATATATATGTATATAT:TATGTATATATATGTATATATATGTATATAT
- Gene:
- SULT1C3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATGTATATATATGTATATATATGTATATAT=0./0
(
ALFA)
TATGTATATA=0.000004/1
(TOPMED)
TATGTATATA=0.000007/1
(GnomAD)
- HGVS:
12.
rs1490147282 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:108263034
(GRCh38)
2:108879490
(GRCh37)
- Canonical SPDI:
- NC_000002.12:108263033:C:T
- Gene:
- SULT1C3 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
13.
rs1489890291 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 2:108263413
(GRCh38)
2:108879869
(GRCh37)
- Canonical SPDI:
- NC_000002.12:108263412:C:G
- Gene:
- SULT1C3 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
14.
rs1489870099 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:108260992
(GRCh38)
2:108877448
(GRCh37)
- Canonical SPDI:
- NC_000002.12:108260991:C:T
- Gene:
- SULT1C3 (Varview)
- Functional Consequence:
- downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
15.
rs1489869989 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 2:108262516
(GRCh38)
2:108878972
(GRCh37)
- Canonical SPDI:
- NC_000002.12:108262515:G:T
- Gene:
- SULT1C3 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
16.
rs1489695265 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:108266064
(GRCh38)
2:108882520
(GRCh37)
- Canonical SPDI:
- NC_000002.12:108266063:A:G
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000224/1
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000223/1
(Estonian)
- HGVS:
17.
rs1489688772 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 2:108241675
(GRCh38)
2:108858131
(GRCh37)
- Canonical SPDI:
- NC_000002.12:108241674:C:G,NC_000002.12:108241674:C:T
- Gene:
- SULT1C3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
18.
rs1489664906 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 2:108263449
(GRCh38)
2:108879906
(GRCh37)
- Canonical SPDI:
- NC_000002.12:108263449:A:AA
- Gene:
- SULT1C3 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0.000071/1
(
ALFA)
A=0.000015/4
(TOPMED)
A=0.000029/4
(GnomAD)
- HGVS:
19.
rs1489597354 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:108251769
(GRCh38)
2:108868225
(GRCh37)
- Canonical SPDI:
- NC_000002.12:108251768:A:G
- Gene:
- SULT1C3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000026/7
(TOPMED)
G=0.000036/5
(GnomAD)
- HGVS:
20.
rs1489578190 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:108245497
(GRCh38)
2:108861953
(GRCh37)
- Canonical SPDI:
- NC_000002.12:108245496:A:G
- Gene:
- SULT1C3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS: