Links from Gene
Items: 1 to 20 of 1000
1.
rs1491573810 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 19:43774148
(GRCh38)
19:44278300
(GRCh37)
- Canonical SPDI:
- NC_000019.10:43774146:TGT:T
- Gene:
- KCNN4 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0./0
(ExAC)
- HGVS:
2.
rs1491382753 has merged into rs370942754 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGTGTG>-,TG,TGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG
[Show Flanks]
- Chromosome:
- 19:43777320
(GRCh38)
19:44281472
(GRCh37)
- Canonical SPDI:
- NC_000019.10:43777298:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG,NC_000019.10:43777298:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTG,NC_000019.10:43777298:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTG,NC_000019.10:43777298:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000019.10:43777298:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000019.10:43777298:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000019.10:43777298:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000019.10:43777298:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000019.10:43777298:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000019.10:43777298:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000019.10:43777298:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000019.10:43777298:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000019.10:43777298:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
- Gene:
- KCNN4 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGTGTGTGTGTGTGTG=0./0
(
ALFA)
-=0.0054/8
(Korea1K)
- HGVS:
NC_000019.10:g.43777300TG[10], NC_000019.10:g.43777300TG[11], NC_000019.10:g.43777300TG[12], NC_000019.10:g.43777300TG[14], NC_000019.10:g.43777300TG[15], NC_000019.10:g.43777300TG[16], NC_000019.10:g.43777300TG[17], NC_000019.10:g.43777300TG[18], NC_000019.10:g.43777300TG[19], NC_000019.10:g.43777300TG[20], NC_000019.10:g.43777300TG[21], NC_000019.10:g.43777300TG[22], NC_000019.10:g.43777300TG[24], NC_000019.9:g.44281452TG[10], NC_000019.9:g.44281452TG[11], NC_000019.9:g.44281452TG[12], NC_000019.9:g.44281452TG[14], NC_000019.9:g.44281452TG[15], NC_000019.9:g.44281452TG[16], NC_000019.9:g.44281452TG[17], NC_000019.9:g.44281452TG[18], NC_000019.9:g.44281452TG[19], NC_000019.9:g.44281452TG[20], NC_000019.9:g.44281452TG[21], NC_000019.9:g.44281452TG[22], NC_000019.9:g.44281452TG[24], NG_052672.1:g.9816AC[10], NG_052672.1:g.9816AC[11], NG_052672.1:g.9816AC[12], NG_052672.1:g.9816AC[14], NG_052672.1:g.9816AC[15], NG_052672.1:g.9816AC[16], NG_052672.1:g.9816AC[17], NG_052672.1:g.9816AC[18], NG_052672.1:g.9816AC[19], NG_052672.1:g.9816AC[20], NG_052672.1:g.9816AC[21], NG_052672.1:g.9816AC[22], NG_052672.1:g.9816AC[24]
3.
rs1491164645 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 19:43777299
(GRCh38)
19:44281452
(GRCh37)
- Canonical SPDI:
- NC_000019.10:43777299:T:TT
- Gene:
- KCNN4 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
T=0.00013/3
(GnomAD)
- HGVS:
4.
rs1491095665 has merged into rs57565022 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GG>-,G
[Show Flanks]
- Chromosome:
- 19:43777326
(GRCh38)
19:44281478
(GRCh37)
- Canonical SPDI:
- NC_000019.10:43777324:GGG:G,NC_000019.10:43777324:GGG:GG
- Gene:
- KCNN4 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.023436/278
(
ALFA)
-=0.025/1
(GENOME_DK)
-=0.025/15
(NorthernSweden)
-=0.033623/4258
(GnomAD)
-=0.07921/1327
(TOMMO)
-=0.42657/1644
(ALSPAC)
-=0.448759/1664
(TWINSUK)
- HGVS:
5.
rs1491072651 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GG>-
[Show Flanks]
- Chromosome:
- 19:43777339
(GRCh38)
19:44281491
(GRCh37)
- Canonical SPDI:
- NC_000019.10:43777338:GG:
- Gene:
- KCNN4 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000224/1
(
ALFA)
-=0.000546/1
(Korea1K)
-=0.001035/142
(GnomAD)
- HGVS:
6.
rs1491006848 has merged into rs886463877 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGTG>-,TG,TGTGTG,TGTGTGTG
[Show Flanks]
- Chromosome:
- 19:43777336
(GRCh38)
19:44281488
(GRCh37)
- Canonical SPDI:
- NC_000019.10:43777326:GTGTGTGTGTGTG:GTGTGTGTG,NC_000019.10:43777326:GTGTGTGTGTGTG:GTGTGTGTGTG,NC_000019.10:43777326:GTGTGTGTGTGTG:GTGTGTGTGTGTGTG,NC_000019.10:43777326:GTGTGTGTGTGTG:GTGTGTGTGTGTGTGTG
- Gene:
- KCNN4 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000019.10:g.43777328TG[4], NC_000019.10:g.43777328TG[5], NC_000019.10:g.43777328TG[7], NC_000019.10:g.43777328TG[8], NC_000019.9:g.44281480TG[4], NC_000019.9:g.44281480TG[5], NC_000019.9:g.44281480TG[7], NC_000019.9:g.44281480TG[8], NG_052672.1:g.9802AC[4], NG_052672.1:g.9802AC[5], NG_052672.1:g.9802AC[7], NG_052672.1:g.9802AC[8]
7.
rs1490607067 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 19:43777058
(GRCh38)
19:44281210
(GRCh37)
- Canonical SPDI:
- NC_000019.10:43777057:T:
- Gene:
- KCNN4 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
9.
rs1490128817 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 19:43778263
(GRCh38)
19:44282415
(GRCh37)
- Canonical SPDI:
- NC_000019.10:43778262:G:A,NC_000019.10:43778262:G:C
- Gene:
- KCNN4 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.00005/7
(GnomAD)
- HGVS:
10.
rs1490085008 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 19:43779252
(GRCh38)
19:44283404
(GRCh37)
- Canonical SPDI:
- NC_000019.10:43779251:C:G,NC_000019.10:43779251:C:T
- Gene:
- KCNN4 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000072/19
(TOPMED)
- HGVS:
11.
rs1489868825 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 19:43771234
(GRCh38)
19:44275386
(GRCh37)
- Canonical SPDI:
- NC_000019.10:43771233:C:A,NC_000019.10:43771233:C:T
- Gene:
- KCNN4 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
12.
rs1489634898 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:43769330
(GRCh38)
19:44273482
(GRCh37)
- Canonical SPDI:
- NC_000019.10:43769329:C:T
- Gene:
- KCNN4 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000005/1
(GnomAD_exomes)
- HGVS:
13.
rs1489605786 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:43781651
(GRCh38)
19:44285803
(GRCh37)
- Canonical SPDI:
- NC_000019.10:43781650:C:T
- Gene:
- KCNN4 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
14.
rs1489434184 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:43769396
(GRCh38)
19:44273548
(GRCh37)
- Canonical SPDI:
- NC_000019.10:43769395:G:A
- Gene:
- KCNN4 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
16.
rs1488944723 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATTTT>-
[Show Flanks]
- Chromosome:
- 19:43771695
(GRCh38)
19:44275847
(GRCh37)
- Canonical SPDI:
- NC_000019.10:43771685:TTTTATTTTATTTT:TTTTATTTT
- Gene:
- KCNN4 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTATTTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
17.
rs1488421473 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:43780185
(GRCh38)
19:44284337
(GRCh37)
- Canonical SPDI:
- NC_000019.10:43780184:G:A
- Gene:
- KCNN4 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000084/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
18.
rs1488385463 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:43779110
(GRCh38)
19:44283262
(GRCh37)
- Canonical SPDI:
- NC_000019.10:43779109:G:A
- Gene:
- KCNN4 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
19.
rs1488360831 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 19:43780617
(GRCh38)
19:44284769
(GRCh37)
- Canonical SPDI:
- NC_000019.10:43780616:C:A,NC_000019.10:43780616:C:G,NC_000019.10:43780616:C:T
- Gene:
- KCNN4 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
20.
rs1488210508 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:43780574
(GRCh38)
19:44284726
(GRCh37)
- Canonical SPDI:
- NC_000019.10:43780573:C:T
- Gene:
- KCNN4 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000253/3
(
ALFA)
T=0.00027/32
(GnomAD)
T=0.002729/5
(Korea1K)
T=0.003048/51
(TOMMO)
T=0.017301/50
(KOREAN)
- HGVS: