Links from Gene
Items: 1 to 20 of 1000
1.
rs1491587938 has merged into rs34199440 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,TT,TTT,TTTTT,TTTTTT
[Show Flanks]
- Chromosome:
- 5:114199618
(GRCh38)
5:113535315
(GRCh37)
- Canonical SPDI:
- NC_000005.10:114199612:TTTTTTTTT:TTTTT,NC_000005.10:114199612:TTTTTTTTT:TTTTTTT,NC_000005.10:114199612:TTTTTTTTT:TTTTTTTT,NC_000005.10:114199612:TTTTTTTTT:TTTTTTTTTT,NC_000005.10:114199612:TTTTTTTTT:TTTTTTTTTTT
- Gene:
- KCNN2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTT=0./0
(
ALFA)
-=0.1025/256
(1000Genomes)
T=0.1767/38
(Vietnamese)
-=0.225/135
(NorthernSweden)
-=0.25/10
(GENOME_DK)
-=0.3066/1373
(Estonian)
- HGVS:
2.
rs1491580736 has merged into rs34640722 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 5:114189146
(GRCh38)
5:113524843
(GRCh37)
- Canonical SPDI:
- NC_000005.10:114189133:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGT,NC_000005.10:114189133:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000005.10:114189133:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000005.10:114189133:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000005.10:114189133:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000005.10:114189133:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:114189133:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:114189133:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:114189133:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:114189133:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:114189133:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:114189133:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:114189133:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:114189133:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:114189133:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:114189133:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:114189133:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:114189133:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- KCNN2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGTGTGT=0./0
(
ALFA)
GT=0.3542/1774
(1000Genomes)
- HGVS:
NC_000005.10:g.114189134GT[6], NC_000005.10:g.114189134GT[7], NC_000005.10:g.114189134GT[8], NC_000005.10:g.114189134GT[9], NC_000005.10:g.114189134GT[10], NC_000005.10:g.114189134GT[12], NC_000005.10:g.114189134_114189155GT[12]ATGTGTGTGTGTGTGTGTGTGTGTGT[1], NC_000005.10:g.114189134GT[13], NC_000005.10:g.114189134GT[14], NC_000005.10:g.114189134GT[15], NC_000005.10:g.114189134GT[16], NC_000005.10:g.114189134GT[17], NC_000005.10:g.114189134GT[18], NC_000005.10:g.114189134GT[19], NC_000005.10:g.114189134GT[20], NC_000005.10:g.114189134GT[21], NC_000005.10:g.114189134GT[22], NC_000005.10:g.114189134GT[23], NC_000005.9:g.113524831GT[6], NC_000005.9:g.113524831GT[7], NC_000005.9:g.113524831GT[8], NC_000005.9:g.113524831GT[9], NC_000005.9:g.113524831GT[10], NC_000005.9:g.113524831GT[12], NC_000005.9:g.113524831_113524852GT[12]ATGTGTGTGTGTGTGTGTGTGTGTGT[1], NC_000005.9:g.113524831GT[13], NC_000005.9:g.113524831GT[14], NC_000005.9:g.113524831GT[15], NC_000005.9:g.113524831GT[16], NC_000005.9:g.113524831GT[17], NC_000005.9:g.113524831GT[18], NC_000005.9:g.113524831GT[19], NC_000005.9:g.113524831GT[20], NC_000005.9:g.113524831GT[21], NC_000005.9:g.113524831GT[22], NC_000005.9:g.113524831GT[23]
3.
rs1491578752 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 5:114288531
(GRCh38)
5:113624228
(GRCh37)
- Canonical SPDI:
- NC_000005.10:114288529:ATA:A
- Gene:
- KCNN2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.000137/19
(GnomAD)
-=0.004367/8
(Korea1K)
-=0.010793/181
(TOMMO)
- HGVS:
4.
rs1491578226 has merged into rs34988174 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GCGC>-,GC,GCGCGC,GCGCGCGC,GCGCGCGCGC,GCGCGCGCGCGC,GCGCGCGCGCGCGC,GCGCGCGCGCGCGCGC,GCGCGCGCGCGCGCGCGC
[Show Flanks]
- Chromosome:
- 5:114449914
(GRCh38)
5:113785611
(GRCh37)
- Canonical SPDI:
- NC_000005.10:114449908:CGCGCGCGC:CGCGC,NC_000005.10:114449908:CGCGCGCGC:CGCGCGC,NC_000005.10:114449908:CGCGCGCGC:CGCGCGCGCGC,NC_000005.10:114449908:CGCGCGCGC:CGCGCGCGCGCGC,NC_000005.10:114449908:CGCGCGCGC:CGCGCGCGCGCGCGC,NC_000005.10:114449908:CGCGCGCGC:CGCGCGCGCGCGCGCGC,NC_000005.10:114449908:CGCGCGCGC:CGCGCGCGCGCGCGCGCGC,NC_000005.10:114449908:CGCGCGCGC:CGCGCGCGCGCGCGCGCGCGC,NC_000005.10:114449908:CGCGCGCGC:CGCGCGCGCGCGCGCGCGCGCGC
- Gene:
- KCNN2 (Varview), LOC101927078 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CGCGCGC=0./0
(
ALFA)
-=0.03057/14
(NorthernSweden)
- HGVS:
NC_000005.10:g.114449910GC[2], NC_000005.10:g.114449910GC[3], NC_000005.10:g.114449910GC[5], NC_000005.10:g.114449910GC[6], NC_000005.10:g.114449910GC[7], NC_000005.10:g.114449910GC[8], NC_000005.10:g.114449910GC[9], NC_000005.10:g.114449910GC[10], NC_000005.10:g.114449910GC[11], NC_000005.9:g.113785607GC[2], NC_000005.9:g.113785607GC[3], NC_000005.9:g.113785607GC[5], NC_000005.9:g.113785607GC[6], NC_000005.9:g.113785607GC[7], NC_000005.9:g.113785607GC[8], NC_000005.9:g.113785607GC[9], NC_000005.9:g.113785607GC[10], NC_000005.9:g.113785607GC[11]
5.
rs1491568898 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 5:114200201
(GRCh38)
5:113535898
(GRCh37)
- Canonical SPDI:
- NC_000005.10:114200200:CT:
- Gene:
- KCNN2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
6.
rs1491550563 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 5:114252773
(GRCh38)
5:113588470
(GRCh37)
- Canonical SPDI:
- NC_000005.10:114252772:AT:
- Gene:
- KCNN2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.00014/8
(GnomAD)
- HGVS:
8.
rs1491547214 has merged into rs1262522586 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-,AA
[Show Flanks]
- Chromosome:
- 5:114393783
(GRCh38)
5:113729480
(GRCh37)
- Canonical SPDI:
- NC_000005.10:114393782:AAAAAAAAAA:AAAAAAAAA,NC_000005.10:114393782:AAAAAAAAAA:AAAAAAAAAAA
- Gene:
- KCNN2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
-=0.00006/1
(TOMMO)
-=0.000397/105
(TOPMED)
- HGVS:
9.
rs1491537506 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GTTTTT
[Show Flanks]
- Chromosome:
- 5:114232926
(GRCh38)
5:113568624
(GRCh37)
- Canonical SPDI:
- NC_000005.10:114232926:TTTTT:TTTTTGTTTTT
- Gene:
- KCNN2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTGTTTTT=0.00363/43
(
ALFA)
TTTTTG=0.00406/26
(1000Genomes)
TTTTTG=0.05946/766
(GnomAD)
- HGVS:
12.
rs1491525723 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->AA,AC,ACAC,ATA,ATAA,ATAC,ATACAC,ATATAC,ATGTGG
[Show Flanks]
- Chromosome:
- 5:114241751
(GRCh38)
5:113577449
(GRCh37)
- Canonical SPDI:
- NC_000005.10:114241751::AA,NC_000005.10:114241751::AC,NC_000005.10:114241751::ACAC,NC_000005.10:114241751::ATA,NC_000005.10:114241751::ATAA,NC_000005.10:114241751::ATAC,NC_000005.10:114241751::ATACAC,NC_000005.10:114241751::ATATAC,NC_000005.10:114241751::ATGTGG
- Gene:
- KCNN2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000005.10:g.114241751_114241752insAA, NC_000005.10:g.114241751_114241752insAC, NC_000005.10:g.114241751_114241752insACAC, NC_000005.10:g.114241751_114241752insATA, NC_000005.10:g.114241751_114241752insATAA, NC_000005.10:g.114241751_114241752insATAC, NC_000005.10:g.114241751_114241752insATACAC, NC_000005.10:g.114241751_114241752insATATAC, NC_000005.10:g.114241751_114241752insATGTGG, NC_000005.9:g.113577448_113577449insAA, NC_000005.9:g.113577448_113577449insAC, NC_000005.9:g.113577448_113577449insACAC, NC_000005.9:g.113577448_113577449insATA, NC_000005.9:g.113577448_113577449insATAA, NC_000005.9:g.113577448_113577449insATAC, NC_000005.9:g.113577448_113577449insATACAC, NC_000005.9:g.113577448_113577449insATATAC, NC_000005.9:g.113577448_113577449insATGTGG
14.
rs1491509782 has merged into rs70976324 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ACACACACTC,ACACACCC,ACACACTC,ACACTC,ACTC,CC
[Show Flanks]
- Chromosome:
- 5:114237290
(GRCh38)
5:113572988
(GRCh37)
- Canonical SPDI:
- NC_000005.10:114237290:C:CACACACACTC,NC_000005.10:114237290:C:CACACACCC,NC_000005.10:114237290:C:CACACACTC,NC_000005.10:114237290:C:CACACTC,NC_000005.10:114237290:C:CACTC,NC_000005.10:114237290:C:CCC
- Gene:
- KCNN2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACACACTC=0./0
(
ALFA)
CACACACACT=0.000004/1
(TOPMED)
CACACACACT=0.000035/1
(TOMMO)
CACT=0.033333/20
(NorthernSweden)
CACT=0.071095/274
(ALSPAC)
CACT=0.075243/279
(TWINSUK)
- HGVS:
NC_000005.10:g.114237291CA[4]CTC[1], NC_000005.10:g.114237291CA[3]CCC[1], NC_000005.10:g.114237291CA[3]CTC[1], NC_000005.10:g.114237291CA[2]CTC[1], NC_000005.10:g.114237291_114237292insACTC, NC_000005.10:g.114237291_114237292insCC, NC_000005.9:g.113572988CA[4]CTC[1], NC_000005.9:g.113572988CA[3]CCC[1], NC_000005.9:g.113572988CA[3]CTC[1], NC_000005.9:g.113572988CA[2]CTC[1], NC_000005.9:g.113572988_113572989insACTC, NC_000005.9:g.113572988_113572989insCC
15.
rs1491502459 has merged into rs1221635910 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-,TATA
[Show Flanks]
- Chromosome:
- 5:114322606
(GRCh38)
5:113658303
(GRCh37)
- Canonical SPDI:
- NC_000005.10:114322604:ATA:A,NC_000005.10:114322604:ATA:ATATA
- Gene:
- KCNN2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00025/4
(
ALFA)
AT=0.00011/3
(TOMMO)
- HGVS:
16.
rs1491498510 has merged into rs1203371494 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA
[Show Flanks]
- Chromosome:
- 5:114288521
(GRCh38)
5:113624218
(GRCh37)
- Canonical SPDI:
- NC_000005.10:114288499:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000005.10:114288499:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000005.10:114288499:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000005.10:114288499:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000005.10:114288499:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000005.10:114288499:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000005.10:114288499:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000005.10:114288499:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000005.10:114288499:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000005.10:114288499:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:114288499:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:114288499:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:114288499:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:114288499:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:114288499:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA
- Gene:
- KCNN2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACACACACACA=0./0
(
ALFA)
-=0.125/1
(KOREAN)
- HGVS:
NC_000005.10:g.114288501CA[10], NC_000005.10:g.114288501CA[11], NC_000005.10:g.114288501CA[12], NC_000005.10:g.114288501CA[13], NC_000005.10:g.114288501CA[14], NC_000005.10:g.114288501CA[16], NC_000005.10:g.114288501CA[17], NC_000005.10:g.114288501CA[18], NC_000005.10:g.114288501CA[19], NC_000005.10:g.114288501CA[20], NC_000005.10:g.114288501CA[21], NC_000005.10:g.114288501CA[22], NC_000005.10:g.114288501CA[23], NC_000005.10:g.114288501CA[24], NC_000005.10:g.114288501CA[25], NC_000005.9:g.113624198CA[10], NC_000005.9:g.113624198CA[11], NC_000005.9:g.113624198CA[12], NC_000005.9:g.113624198CA[13], NC_000005.9:g.113624198CA[14], NC_000005.9:g.113624198CA[16], NC_000005.9:g.113624198CA[17], NC_000005.9:g.113624198CA[18], NC_000005.9:g.113624198CA[19], NC_000005.9:g.113624198CA[20], NC_000005.9:g.113624198CA[21], NC_000005.9:g.113624198CA[22], NC_000005.9:g.113624198CA[23], NC_000005.9:g.113624198CA[24], NC_000005.9:g.113624198CA[25]
17.
rs1491498456 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CG>-
[Show Flanks]
- Chromosome:
- 5:114241763
(GRCh38)
5:113577460
(GRCh37)
- Canonical SPDI:
- NC_000005.10:114241762:CG:
- Gene:
- KCNN2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00438/52
(
ALFA)
-=0.00025/3
(TOMMO)
-=0.00239/44
(GnomAD)
-=0.00474/2
(NorthernSweden)
- HGVS:
18.
rs1491497793 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,AA,AC,ATAC,ATATAC
[Show Flanks]
- Chromosome:
- 5:114241793
(GRCh38)
5:113577491
(GRCh37)
- Canonical SPDI:
- NC_000005.10:114241793::A,NC_000005.10:114241793::AA,NC_000005.10:114241793::AC,NC_000005.10:114241793::ATAC,NC_000005.10:114241793::ATATAC
- Gene:
- KCNN2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AC=0./0
(
ALFA)
ATAC=0.00087/1
(Korea1K)
ATAC=0.00098/13
(TOMMO)
ATAC=0.00259/1
(NorthernSweden)
ATAC=0.00692/147
(GnomAD)
- HGVS:
19.
rs1491490107 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 5:114287755
(GRCh38)
5:113623452
(GRCh37)
- Canonical SPDI:
- NC_000005.10:114287753:ATA:A
- Gene:
- KCNN2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
-=0.000008/1
(GnomAD)
- HGVS:
20.
rs1491477653 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 5:114149153
(GRCh38)
5:113484850
(GRCh37)
- Canonical SPDI:
- NC_000005.10:114149150:AAAA:AA
- Gene:
- KCNN2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAA=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000015/4
(TOPMED)
- HGVS: