Links from Gene
Items: 1 to 20 of 1308
1.
rs1491421276 has merged into rs771018801 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-,ATAT
[Show Flanks]
- Chromosome:
- 13:33281406
(GRCh38)
13:33855543
(GRCh37)
- Canonical SPDI:
- NC_000013.11:33281403:ATAT:AT,NC_000013.11:33281403:ATAT:ATATAT
- Gene:
- STARD13 (Varview), STARD13-AS (Varview)
- Functional Consequence:
- 500B_downstream_variant,genic_upstream_transcript_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATAT=0.00049/8
(
ALFA)
-=0.00203/13
(1000Genomes)
- HGVS:
2.
rs1491302032 has merged into rs60224228 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA
[Show Flanks]
- Chromosome:
- 13:33277059
(GRCh38)
13:33851196
(GRCh37)
- Canonical SPDI:
- NC_000013.11:33277048:AAAAAAAAAAAA:AAAAAAAAAA,NC_000013.11:33277048:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000013.11:33277048:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:33277048:AAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:33277048:AAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:33277048:AAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:33277048:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
- Gene:
- STARD13 (Varview), STARD13-AS (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
-=0.0722/41
(NorthernSweden)
-=0.125/5
(GENOME_DK)
- HGVS:
NC_000013.11:g.33277059_33277060del, NC_000013.11:g.33277060del, NC_000013.11:g.33277060dup, NC_000013.11:g.33277059_33277060dup, NC_000013.11:g.33277058_33277060dup, NC_000013.11:g.33277057_33277060dup, NC_000013.11:g.33277056_33277060dup, NC_000013.10:g.33851196_33851197del, NC_000013.10:g.33851197del, NC_000013.10:g.33851197dup, NC_000013.10:g.33851196_33851197dup, NC_000013.10:g.33851195_33851197dup, NC_000013.10:g.33851194_33851197dup, NC_000013.10:g.33851193_33851197dup, NG_029752.2:g.404786_404787del, NG_029752.2:g.404787del, NG_029752.2:g.404787dup, NG_029752.2:g.404786_404787dup, NG_029752.2:g.404785_404787dup, NG_029752.2:g.404784_404787dup, NG_029752.2:g.404783_404787dup
4.
rs1491143966 has merged into rs547755407 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 13:33277067
(GRCh38)
13:33851204
(GRCh37)
- Canonical SPDI:
- NC_000013.11:33277059:AGAGAGAGA:AGAGAGA
- Gene:
- STARD13 (Varview), STARD13-AS (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAGAGAGA=0.446215/7226
(
ALFA)
AG=0.024161/121
(1000Genomes)
AG=0.052932/204
(ALSPAC)
AG=0.053937/200
(TWINSUK)
AG=0.157088/2633
(TOMMO)
AG=0.388136/229
(NorthernSweden)
AG=0.411105/56277
(GnomAD)
AG=0.45/18
(GENOME_DK)
- HGVS:
5.
rs1491091189 has merged into rs771018801 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-,ATAT
[Show Flanks]
- Chromosome:
- 13:33281406
(GRCh38)
13:33855543
(GRCh37)
- Canonical SPDI:
- NC_000013.11:33281403:ATAT:AT,NC_000013.11:33281403:ATAT:ATATAT
- Gene:
- STARD13 (Varview), STARD13-AS (Varview)
- Functional Consequence:
- 500B_downstream_variant,genic_upstream_transcript_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATAT=0.00049/8
(
ALFA)
-=0.00203/13
(1000Genomes)
- HGVS:
6.
rs1491044468 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 13:33281442
(GRCh38)
13:33855579
(GRCh37)
- Canonical SPDI:
- NC_000013.11:33281440:TAT:T
- Gene:
- STARD13 (Varview), STARD13-AS (Varview)
- Functional Consequence:
- downstream_transcript_variant,genic_upstream_transcript_variant,500B_downstream_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
-=0.000065/9
(GnomAD)
- HGVS:
7.
rs1489407533 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 13:33280979
(GRCh38)
13:33855116
(GRCh37)
- Canonical SPDI:
- NC_000013.11:33280978:T:C
- Gene:
- STARD13 (Varview), STARD13-AS (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000142/2
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
8.
rs1488773670 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 13:33277180
(GRCh38)
13:33851317
(GRCh37)
- Canonical SPDI:
- NC_000013.11:33277179:G:A
- Gene:
- STARD13 (Varview), STARD13-AS (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000054/1
(
ALFA)
A=0.000053/14
(TOPMED)
A=0.000071/10
(GnomAD)
A=0.000223/1
(Estonian)
- HGVS:
9.
rs1485337544 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 13:33277232
(GRCh38)
13:33851369
(GRCh37)
- Canonical SPDI:
- NC_000013.11:33277231:G:T
- Gene:
- STARD13 (Varview), STARD13-AS (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,upstream_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:
10.
rs1485151015 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 13:33280484
(GRCh38)
13:33854621
(GRCh37)
- Canonical SPDI:
- NC_000013.11:33280483:G:A
- Gene:
- STARD13 (Varview), STARD13-AS (Varview)
- Functional Consequence:
- genic_upstream_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:
11.
rs1485120819 has merged into rs34351733 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 13:33281426
(GRCh38)
13:33855563
(GRCh37)
- Canonical SPDI:
- NC_000013.11:33281406:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000013.11:33281406:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000013.11:33281406:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:33281406:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:33281406:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:33281406:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:33281406:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:33281406:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:33281406:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:33281406:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:33281406:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:33281406:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:33281406:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:33281406:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:33281406:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:33281406:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:33281406:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:33281406:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- STARD13 (Varview), STARD13-AS (Varview)
- Functional Consequence:
- 500B_downstream_variant,intron_variant,downstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGTGTGTGT=0./0
(
ALFA)
- HGVS:
NC_000013.11:g.33281408GT[9], NC_000013.11:g.33281408GT[10], NC_000013.11:g.33281408GT[11], NC_000013.11:g.33281408GT[12], NC_000013.11:g.33281408GT[13], NC_000013.11:g.33281408GT[14], NC_000013.11:g.33281408GT[15], NC_000013.11:g.33281408GT[16], NC_000013.11:g.33281408GT[18], NC_000013.11:g.33281408GT[19], NC_000013.11:g.33281408GT[20], NC_000013.11:g.33281408GT[21], NC_000013.11:g.33281408GT[22], NC_000013.11:g.33281408GT[23], NC_000013.11:g.33281408GT[24], NC_000013.11:g.33281408GT[25], NC_000013.11:g.33281408GT[26], NC_000013.11:g.33281408GT[27], NC_000013.10:g.33855545GT[9], NC_000013.10:g.33855545GT[10], NC_000013.10:g.33855545GT[11], NC_000013.10:g.33855545GT[12], NC_000013.10:g.33855545GT[13], NC_000013.10:g.33855545GT[14], NC_000013.10:g.33855545GT[15], NC_000013.10:g.33855545GT[16], NC_000013.10:g.33855545GT[18], NC_000013.10:g.33855545GT[19], NC_000013.10:g.33855545GT[20], NC_000013.10:g.33855545GT[21], NC_000013.10:g.33855545GT[22], NC_000013.10:g.33855545GT[23], NC_000013.10:g.33855545GT[24], NC_000013.10:g.33855545GT[25], NC_000013.10:g.33855545GT[26], NC_000013.10:g.33855545GT[27], NG_029752.2:g.400396CA[9], NG_029752.2:g.400396CA[10], NG_029752.2:g.400396CA[11], NG_029752.2:g.400396CA[12], NG_029752.2:g.400396CA[13], NG_029752.2:g.400396CA[14], NG_029752.2:g.400396CA[15], NG_029752.2:g.400396CA[16], NG_029752.2:g.400396CA[18], NG_029752.2:g.400396CA[19], NG_029752.2:g.400396CA[20], NG_029752.2:g.400396CA[21], NG_029752.2:g.400396CA[22], NG_029752.2:g.400396CA[23], NG_029752.2:g.400396CA[24], NG_029752.2:g.400396CA[25], NG_029752.2:g.400396CA[26], NG_029752.2:g.400396CA[27]
13.
rs1484827221 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 13:33279967
(GRCh38)
13:33854104
(GRCh37)
- Canonical SPDI:
- NC_000013.11:33279966:C:T
- Gene:
- STARD13 (Varview), STARD13-AS (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000342/1
(KOREAN)
- HGVS:
14.
rs1484784844 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 13:33281559
(GRCh38)
13:33855696
(GRCh37)
- Canonical SPDI:
- NC_000013.11:33281558:A:G
- Gene:
- STARD13 (Varview), STARD13-AS (Varview)
- Functional Consequence:
- downstream_transcript_variant,genic_upstream_transcript_variant,500B_downstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
15.
rs1483994719 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 13:33277067
(GRCh38)
13:33851204
(GRCh37)
- Canonical SPDI:
- NC_000013.11:33277066:G:A,NC_000013.11:33277066:G:T
- Gene:
- STARD13 (Varview), STARD13-AS (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
A=0.000008/1
(GnomAD)
- HGVS:
17.
rs1483332125 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 13:33281494
(GRCh38)
13:33855631
(GRCh37)
- Canonical SPDI:
- NC_000013.11:33281493:C:T
- Gene:
- STARD13 (Varview), STARD13-AS (Varview)
- Functional Consequence:
- downstream_transcript_variant,genic_upstream_transcript_variant,500B_downstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000019/5
(TOPMED)
- HGVS:
18.
rs1483087729 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 13:33279786
(GRCh38)
13:33853923
(GRCh37)
- Canonical SPDI:
- NC_000013.11:33279785:C:G
- Gene:
- STARD13 (Varview), STARD13-AS (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000169/2
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000015/4
(TOPMED)
- HGVS:
19.
rs1483011816 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 13:33277584
(GRCh38)
13:33851721
(GRCh37)
- Canonical SPDI:
- NC_000013.11:33277583:C:T
- Gene:
- STARD13 (Varview), STARD13-AS (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
20.
rs1482444343 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 13:33278535
(GRCh38)
13:33852672
(GRCh37)
- Canonical SPDI:
- NC_000013.11:33278534:A:C
- Gene:
- STARD13 (Varview), STARD13-AS (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS: