Links from Gene
Items: 1 to 20 of 1000
2.
rs1491516029 has merged into rs11467250 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 20:43571087
(GRCh38)
20:42199727
(GRCh37)
- Canonical SPDI:
- NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- SGK2 (Varview)
- Functional Consequence:
- intron_variant
- Clinical significance:
- benign
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGTGTGTGTGTGTGTGT=0./0
(
ALFA)
GTGT=0.27476/1376
(1000Genomes)
GTGT=0.28204/1087
(ALSPAC)
- HGVS:
NC_000020.11:g.43571065GT[11], NC_000020.11:g.43571065GT[12], NC_000020.11:g.43571065GT[13], NC_000020.11:g.43571065GT[14], NC_000020.11:g.43571065GT[15], NC_000020.11:g.43571065GT[16], NC_000020.11:g.43571065GT[17], NC_000020.11:g.43571065GT[18], NC_000020.11:g.43571065GT[20], NC_000020.11:g.43571065GT[21], NC_000020.11:g.43571065GT[22], NC_000020.11:g.43571065GT[23], NC_000020.11:g.43571065GT[24], NC_000020.11:g.43571065GT[25], NC_000020.11:g.43571065GT[26], NC_000020.11:g.43571065GT[27], NC_000020.11:g.43571065GT[28], NC_000020.11:g.43571065GT[29], NC_000020.11:g.43571065GT[30], NC_000020.10:g.42199705GT[11], NC_000020.10:g.42199705GT[12], NC_000020.10:g.42199705GT[13], NC_000020.10:g.42199705GT[14], NC_000020.10:g.42199705GT[15], NC_000020.10:g.42199705GT[16], NC_000020.10:g.42199705GT[17], NC_000020.10:g.42199705GT[18], NC_000020.10:g.42199705GT[20], NC_000020.10:g.42199705GT[21], NC_000020.10:g.42199705GT[22], NC_000020.10:g.42199705GT[23], NC_000020.10:g.42199705GT[24], NC_000020.10:g.42199705GT[25], NC_000020.10:g.42199705GT[26], NC_000020.10:g.42199705GT[27], NC_000020.10:g.42199705GT[28], NC_000020.10:g.42199705GT[29], NC_000020.10:g.42199705GT[30], NG_029448.2:g.17071GT[11], NG_029448.2:g.17071GT[12], NG_029448.2:g.17071GT[13], NG_029448.2:g.17071GT[14], NG_029448.2:g.17071GT[15], NG_029448.2:g.17071GT[16], NG_029448.2:g.17071GT[17], NG_029448.2:g.17071GT[18], NG_029448.2:g.17071GT[20], NG_029448.2:g.17071GT[21], NG_029448.2:g.17071GT[22], NG_029448.2:g.17071GT[23], NG_029448.2:g.17071GT[24], NG_029448.2:g.17071GT[25], NG_029448.2:g.17071GT[26], NG_029448.2:g.17071GT[27], NG_029448.2:g.17071GT[28], NG_029448.2:g.17071GT[29], NG_029448.2:g.17071GT[30]
3.
rs1491348076 has merged into rs5841510 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 20:43561401
(GRCh38)
20:42190041
(GRCh37)
- Canonical SPDI:
- NC_000020.11:43561386:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:43561386:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:43561386:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:43561386:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:43561386:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:43561386:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:43561386:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:43561386:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:43561386:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:43561386:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:43561386:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:43561386:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- SGK2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000020.11:g.43561401_43561408del, NC_000020.11:g.43561402_43561408del, NC_000020.11:g.43561403_43561408del, NC_000020.11:g.43561404_43561408del, NC_000020.11:g.43561405_43561408del, NC_000020.11:g.43561406_43561408del, NC_000020.11:g.43561407_43561408del, NC_000020.11:g.43561408del, NC_000020.11:g.43561408dup, NC_000020.11:g.43561407_43561408dup, NC_000020.11:g.43561406_43561408dup, NC_000020.11:g.43561405_43561408dup, NC_000020.10:g.42190041_42190048del, NC_000020.10:g.42190042_42190048del, NC_000020.10:g.42190043_42190048del, NC_000020.10:g.42190044_42190048del, NC_000020.10:g.42190045_42190048del, NC_000020.10:g.42190046_42190048del, NC_000020.10:g.42190047_42190048del, NC_000020.10:g.42190048del, NC_000020.10:g.42190048dup, NC_000020.10:g.42190047_42190048dup, NC_000020.10:g.42190046_42190048dup, NC_000020.10:g.42190045_42190048dup, NG_029448.2:g.7407_7414del, NG_029448.2:g.7408_7414del, NG_029448.2:g.7409_7414del, NG_029448.2:g.7410_7414del, NG_029448.2:g.7411_7414del, NG_029448.2:g.7412_7414del, NG_029448.2:g.7413_7414del, NG_029448.2:g.7414del, NG_029448.2:g.7414dup, NG_029448.2:g.7413_7414dup, NG_029448.2:g.7412_7414dup, NG_029448.2:g.7411_7414dup
4.
rs1491276477 has merged into rs764803627 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,AA,AAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 20:43580736
(GRCh38)
20:42209376
(GRCh37)
- Canonical SPDI:
- NC_000020.11:43580727:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000020.11:43580727:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000020.11:43580727:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:43580727:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:43580727:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:43580727:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:43580727:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:43580727:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:43580727:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:43580727:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:43580727:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:43580727:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:43580727:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:43580727:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- SGK2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000020.11:g.43580736_43580748del, NC_000020.11:g.43580738_43580748del, NC_000020.11:g.43580739_43580748del, NC_000020.11:g.43580743_43580748del, NC_000020.11:g.43580744_43580748del, NC_000020.11:g.43580745_43580748del, NC_000020.11:g.43580746_43580748del, NC_000020.11:g.43580747_43580748del, NC_000020.11:g.43580748del, NC_000020.11:g.43580748dup, NC_000020.11:g.43580747_43580748dup, NC_000020.11:g.43580746_43580748dup, NC_000020.11:g.43580745_43580748dup, NC_000020.11:g.43580744_43580748dup, NC_000020.10:g.42209376_42209388del, NC_000020.10:g.42209378_42209388del, NC_000020.10:g.42209379_42209388del, NC_000020.10:g.42209383_42209388del, NC_000020.10:g.42209384_42209388del, NC_000020.10:g.42209385_42209388del, NC_000020.10:g.42209386_42209388del, NC_000020.10:g.42209387_42209388del, NC_000020.10:g.42209388del, NC_000020.10:g.42209388dup, NC_000020.10:g.42209387_42209388dup, NC_000020.10:g.42209386_42209388dup, NC_000020.10:g.42209385_42209388dup, NC_000020.10:g.42209384_42209388dup, NG_029448.2:g.26742_26754del, NG_029448.2:g.26744_26754del, NG_029448.2:g.26745_26754del, NG_029448.2:g.26749_26754del, NG_029448.2:g.26750_26754del, NG_029448.2:g.26751_26754del, NG_029448.2:g.26752_26754del, NG_029448.2:g.26753_26754del, NG_029448.2:g.26754del, NG_029448.2:g.26754dup, NG_029448.2:g.26753_26754dup, NG_029448.2:g.26752_26754dup, NG_029448.2:g.26751_26754dup, NG_029448.2:g.26750_26754dup
5.
rs1491151091 has merged into rs11467250 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 20:43571087
(GRCh38)
20:42199727
(GRCh37)
- Canonical SPDI:
- NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- SGK2 (Varview)
- Functional Consequence:
- intron_variant
- Clinical significance:
- benign
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGTGTGTGTGTGTGTGT=0./0
(
ALFA)
GTGT=0.27476/1376
(1000Genomes)
GTGT=0.28204/1087
(ALSPAC)
- HGVS:
NC_000020.11:g.43571065GT[11], NC_000020.11:g.43571065GT[12], NC_000020.11:g.43571065GT[13], NC_000020.11:g.43571065GT[14], NC_000020.11:g.43571065GT[15], NC_000020.11:g.43571065GT[16], NC_000020.11:g.43571065GT[17], NC_000020.11:g.43571065GT[18], NC_000020.11:g.43571065GT[20], NC_000020.11:g.43571065GT[21], NC_000020.11:g.43571065GT[22], NC_000020.11:g.43571065GT[23], NC_000020.11:g.43571065GT[24], NC_000020.11:g.43571065GT[25], NC_000020.11:g.43571065GT[26], NC_000020.11:g.43571065GT[27], NC_000020.11:g.43571065GT[28], NC_000020.11:g.43571065GT[29], NC_000020.11:g.43571065GT[30], NC_000020.10:g.42199705GT[11], NC_000020.10:g.42199705GT[12], NC_000020.10:g.42199705GT[13], NC_000020.10:g.42199705GT[14], NC_000020.10:g.42199705GT[15], NC_000020.10:g.42199705GT[16], NC_000020.10:g.42199705GT[17], NC_000020.10:g.42199705GT[18], NC_000020.10:g.42199705GT[20], NC_000020.10:g.42199705GT[21], NC_000020.10:g.42199705GT[22], NC_000020.10:g.42199705GT[23], NC_000020.10:g.42199705GT[24], NC_000020.10:g.42199705GT[25], NC_000020.10:g.42199705GT[26], NC_000020.10:g.42199705GT[27], NC_000020.10:g.42199705GT[28], NC_000020.10:g.42199705GT[29], NC_000020.10:g.42199705GT[30], NG_029448.2:g.17071GT[11], NG_029448.2:g.17071GT[12], NG_029448.2:g.17071GT[13], NG_029448.2:g.17071GT[14], NG_029448.2:g.17071GT[15], NG_029448.2:g.17071GT[16], NG_029448.2:g.17071GT[17], NG_029448.2:g.17071GT[18], NG_029448.2:g.17071GT[20], NG_029448.2:g.17071GT[21], NG_029448.2:g.17071GT[22], NG_029448.2:g.17071GT[23], NG_029448.2:g.17071GT[24], NG_029448.2:g.17071GT[25], NG_029448.2:g.17071GT[26], NG_029448.2:g.17071GT[27], NG_029448.2:g.17071GT[28], NG_029448.2:g.17071GT[29], NG_029448.2:g.17071GT[30]
6.
rs1490936661 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 20:43559875
(GRCh38)
20:42188515
(GRCh37)
- Canonical SPDI:
- NC_000020.11:43559874:C:G
- Gene:
- SGK2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000019/5
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
7.
rs1490923857 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 20:43558858
(GRCh38)
20:42187498
(GRCh37)
- Canonical SPDI:
- NC_000020.11:43558853:AGAGAG:AGAG
- Gene:
- SGK2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAG=0.000071/1
(
ALFA)
-=0.000049/13
(TOPMED)
-=0.000086/12
(GnomAD)
- HGVS:
8.
rs1490756608 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 20:43558727
(GRCh38)
20:42187367
(GRCh37)
- Canonical SPDI:
- NC_000020.11:43558726:G:T
- Gene:
- SGK2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
9.
rs1490434058 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 20:43557965
(GRCh38)
20:42186605
(GRCh37)
- Canonical SPDI:
- NC_000020.11:43557964:C:T
- Gene:
- SGK2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
10.
rs1490220612 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 20:43571214
(GRCh38)
20:42199854
(GRCh37)
- Canonical SPDI:
- NC_000020.11:43571213:C:A,NC_000020.11:43571213:C:T
- Gene:
- SGK2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
T=0.000035/1
(TOMMO)
- HGVS:
11.
rs1490091877 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 20:43579926
(GRCh38)
20:42208566
(GRCh37)
- Canonical SPDI:
- NC_000020.11:43579925:G:T
- Gene:
- SGK2 (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:
13.
rs1489902999 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,G
[Show Flanks]
- Chromosome:
- 20:43581326
(GRCh38)
20:42209966
(GRCh37)
- Canonical SPDI:
- NC_000020.11:43581325:T:A,NC_000020.11:43581325:T:G
- Gene:
- SGK2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
15.
rs1489807378 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 20:43571977
(GRCh38)
20:42200617
(GRCh37)
- Canonical SPDI:
- NC_000020.11:43571976:G:A,NC_000020.11:43571976:G:T
- Gene:
- SGK2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00034/1
(KOREAN)
- HGVS:
16.
rs1489720061 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 20:43574912
(GRCh38)
20:42203552
(GRCh37)
- Canonical SPDI:
- NC_000020.11:43574911:T:G
- Gene:
- SGK2 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
G=0.000007/1
(GnomAD)
G=0.000015/4
(TOPMED)
- HGVS:
NC_000020.11:g.43574912T>G, NC_000020.10:g.42203552T>G, NG_029448.2:g.20918T>G, NM_016276.5:c.601T>G, NM_016276.4:c.781T>G, NM_016276.3:c.781T>G, NM_170693.3:c.601T>G, NM_170693.2:c.601T>G, NM_001199264.2:c.601T>G, NM_001199264.1:c.601T>G, NP_057360.3:p.Leu201Val, NP_733794.1:p.Leu201Val, NP_001186193.1:p.Leu201Val
17.
rs1489716597 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 20:43572577
(GRCh38)
20:42201217
(GRCh37)
- Canonical SPDI:
- NC_000020.11:43572576:T:G
- Gene:
- SGK2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
19.
rs1489482120 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 20:43572175
(GRCh38)
20:42200815
(GRCh37)
- Canonical SPDI:
- NC_000020.11:43572174:T:G
- Gene:
- SGK2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0.000013/2
(GnomAD_exomes)
- HGVS:
20.
rs1489473866 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 20:43583926
(GRCh38)
20:42212566
(GRCh37)
- Canonical SPDI:
- NC_000020.11:43583925:C:T
- Gene:
- SGK2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS: