Links from Gene
Items: 1 to 20 of 1000
1.
rs1491585572 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->GC
[Show Flanks]
- Chromosome:
- 14:88181407
(GRCh38)
14:88647752
(GRCh37)
- Canonical SPDI:
- NC_000014.9:88181407::GC
- Gene:
- KCNK10 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
GC=0.000672/3
(
ALFA)
GC=0.000028/3
(GnomAD)
- HGVS:
NC_000014.9:g.88181407_88181408insGC, NC_000014.8:g.88647751_88647752insGC, NM_021161.5:c.*4127_*4128insGC, NM_021161.4:c.*4127_*4128insGC, NM_138317.3:c.*4127_*4128insGC, NM_138317.2:c.*4127_*4128insGC, NM_138318.3:c.*4127_*4128insGC, NM_138318.2:c.*4127_*4128insGC, XM_011536840.2:c.*4127_*4128insGC, XM_011536840.1:c.*4127_*4128insGC, XM_024449628.1:c.*4127_*4128insGC
4.
rs1491230071 has merged into rs10541411 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 14:88281846
(GRCh38)
14:88748190
(GRCh37)
- Canonical SPDI:
- NC_000014.9:88281830:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000014.9:88281830:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000014.9:88281830:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000014.9:88281830:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000014.9:88281830:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:88281830:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:88281830:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:88281830:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:88281830:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:88281830:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:88281830:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- KCNK10 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGTGT=0./0
(
ALFA)
TG=0.1454/728
(1000Genomes)
- HGVS:
NC_000014.9:g.88281832GT[7], NC_000014.9:g.88281832GT[8], NC_000014.9:g.88281832GT[9], NC_000014.9:g.88281832GT[10], NC_000014.9:g.88281832GT[11], NC_000014.9:g.88281832GT[13], NC_000014.9:g.88281832GT[14], NC_000014.9:g.88281832GT[15], NC_000014.9:g.88281832GT[16], NC_000014.9:g.88281832GT[17], NC_000014.9:g.88281832GT[18], NC_000014.8:g.88748176GT[7], NC_000014.8:g.88748176GT[8], NC_000014.8:g.88748176GT[9], NC_000014.8:g.88748176GT[10], NC_000014.8:g.88748176GT[11], NC_000014.8:g.88748176GT[13], NC_000014.8:g.88748176GT[14], NC_000014.8:g.88748176GT[15], NC_000014.8:g.88748176GT[16], NC_000014.8:g.88748176GT[17], NC_000014.8:g.88748176GT[18]
5.
rs1491205845 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTATATAT
[Show Flanks]
- Chromosome:
- 14:88281728
(GRCh38)
14:88748073
(GRCh37)
- Canonical SPDI:
- NC_000014.9:88281728:TATATAT:TATATATCTATATAT
- Gene:
- KCNK10 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TATATATCTATATAT=0./0
(
ALFA)
- HGVS:
6.
rs1491147685 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A,TACA,TATATATATATACA,TATATATATATATACA,TATATATATATATATACA,TATATATATATATATATACA
[Show Flanks]
- Chromosome:
- 14:88281751
(GRCh38)
14:88748096
(GRCh37)
- Canonical SPDI:
- NC_000014.9:88281751:A:AA,NC_000014.9:88281751:A:ATACA,NC_000014.9:88281751:A:ATATATATATATACA,NC_000014.9:88281751:A:ATATATATATATATACA,NC_000014.9:88281751:A:ATATATATATATATATACA,NC_000014.9:88281751:A:ATATATATATATATATATACA
- Gene:
- KCNK10 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATATATACA=0./0
(
ALFA)
ATATATATATATATAC=0.000004/1
(TOPMED)
- HGVS:
NC_000014.9:g.88281752dup, NC_000014.9:g.88281752_88281753insTACA, NC_000014.9:g.88281752AT[6]ACA[1], NC_000014.9:g.88281752AT[7]ACA[1], NC_000014.9:g.88281752AT[8]ACA[1], NC_000014.9:g.88281752AT[9]ACA[1], NC_000014.8:g.88748096dup, NC_000014.8:g.88748096_88748097insTACA, NC_000014.8:g.88748096AT[6]ACA[1], NC_000014.8:g.88748096AT[7]ACA[1], NC_000014.8:g.88748096AT[8]ACA[1], NC_000014.8:g.88748096AT[9]ACA[1]
7.
rs1491123159 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CG>-
[Show Flanks]
- Chromosome:
- 14:88279364
(GRCh38)
14:88745708
(GRCh37)
- Canonical SPDI:
- NC_000014.9:88279363:CG:
- Gene:
- KCNK10 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000009/1
(GnomAD)
-=0.000177/3
(TOMMO)
- HGVS:
10.
rs1491067565 has merged into rs547395690 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA
[Show Flanks]
- Chromosome:
- 14:88271939
(GRCh38)
14:88738283
(GRCh37)
- Canonical SPDI:
- NC_000014.9:88271926:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:88271926:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:88271926:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:88271926:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:88271926:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
- Gene:
- KCNK10 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0.00014/2
(
ALFA)
-=0.2/8
(GENOME_DK)
- HGVS:
11.
rs1491043182 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CATATA
[Show Flanks]
- Chromosome:
- 14:88281726
(GRCh38)
14:88748071
(GRCh37)
- Canonical SPDI:
- NC_000014.9:88281726:CATATA:CATATACATATA
- Gene:
- KCNK10 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CATATACATATA=0./0
(
ALFA)
CATATA=0.000004/1
(TOPMED)
- HGVS:
12.
rs1491038946 has merged into rs3837636 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAA,AAAAAA,AAAAAAA
[Show Flanks]
- Chromosome:
- 14:88240892
(GRCh38)
14:88707236
(GRCh37)
- Canonical SPDI:
- NC_000014.9:88240881:AAAAAAAAAAAA:AAAAAAAAAA,NC_000014.9:88240881:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:88240881:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:88240881:AAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:88240881:AAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:88240881:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
- Gene:
- KCNK10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
-=0.2406/892
(TWINSUK)
-=0.2447/943
(ALSPAC)
-=0.3482/1741
(1000Genomes)
- HGVS:
NC_000014.9:g.88240892_88240893del, NC_000014.9:g.88240893del, NC_000014.9:g.88240893dup, NC_000014.9:g.88240892_88240893dup, NC_000014.9:g.88240890_88240893dup, NC_000014.9:g.88240889_88240893dup, NC_000014.8:g.88707236_88707237del, NC_000014.8:g.88707237del, NC_000014.8:g.88707237dup, NC_000014.8:g.88707236_88707237dup, NC_000014.8:g.88707234_88707237dup, NC_000014.8:g.88707233_88707237dup
13.
rs1491026191 has merged into rs144490234 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACA>-,CA,CACA,CACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA
[Show Flanks]
- Chromosome:
- 14:88185496
(GRCh38)
14:88651840
(GRCh37)
- Canonical SPDI:
- NC_000014.9:88185482:ACACACACACACACACACACA:ACACACACACACA,NC_000014.9:88185482:ACACACACACACACACACACA:ACACACACACACACA,NC_000014.9:88185482:ACACACACACACACACACACA:ACACACACACACACACA,NC_000014.9:88185482:ACACACACACACACACACACA:ACACACACACACACACACA,NC_000014.9:88185482:ACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000014.9:88185482:ACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000014.9:88185482:ACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000014.9:88185482:ACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000014.9:88185482:ACACACACACACACACACACA:ACACACACACACACACACACACACACACACA
- Gene:
- KCNK10 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACA=0./0
(
ALFA)
AC=0.3886/1946
(1000Genomes)
-=0.4167/250
(NorthernSweden)
- HGVS:
NC_000014.9:g.88185484CA[6], NC_000014.9:g.88185484CA[7], NC_000014.9:g.88185484CA[8], NC_000014.9:g.88185484CA[9], NC_000014.9:g.88185484CA[11], NC_000014.9:g.88185484CA[12], NC_000014.9:g.88185484CA[13], NC_000014.9:g.88185484CA[14], NC_000014.9:g.88185484CA[15], NC_000014.8:g.88651828CA[6], NC_000014.8:g.88651828CA[7], NC_000014.8:g.88651828CA[8], NC_000014.8:g.88651828CA[9], NC_000014.8:g.88651828CA[11], NC_000014.8:g.88651828CA[12], NC_000014.8:g.88651828CA[13], NC_000014.8:g.88651828CA[14], NC_000014.8:g.88651828CA[15], NM_021161.5:c.*33GT[6], NM_021161.5:c.*33GT[7], NM_021161.5:c.*33GT[8], NM_021161.5:c.*33GT[9], NM_021161.5:c.*33GT[11], NM_021161.5:c.*33GT[12], NM_021161.5:c.*33GT[13], NM_021161.5:c.*33GT[14], NM_021161.5:c.*33GT[15], NM_021161.4:c.*33GT[6], NM_021161.4:c.*33GT[7], NM_021161.4:c.*33GT[8], NM_021161.4:c.*33GT[9], NM_021161.4:c.*33GT[11], NM_021161.4:c.*33GT[12], NM_021161.4:c.*33GT[13], NM_021161.4:c.*33GT[14], NM_021161.4:c.*33GT[15], NM_138317.3:c.*33GT[6], NM_138317.3:c.*33GT[7], NM_138317.3:c.*33GT[8], NM_138317.3:c.*33GT[9], NM_138317.3:c.*33GT[11], NM_138317.3:c.*33GT[12], NM_138317.3:c.*33GT[13], NM_138317.3:c.*33GT[14], NM_138317.3:c.*33GT[15], NM_138317.2:c.*33GT[6], NM_138317.2:c.*33GT[7], NM_138317.2:c.*33GT[8], NM_138317.2:c.*33GT[9], NM_138317.2:c.*33GT[11], NM_138317.2:c.*33GT[12], NM_138317.2:c.*33GT[13], NM_138317.2:c.*33GT[14], NM_138317.2:c.*33GT[15], NM_138318.3:c.*33GT[6], NM_138318.3:c.*33GT[7], NM_138318.3:c.*33GT[8], NM_138318.3:c.*33GT[9], NM_138318.3:c.*33GT[11], NM_138318.3:c.*33GT[12], NM_138318.3:c.*33GT[13], NM_138318.3:c.*33GT[14], NM_138318.3:c.*33GT[15], NM_138318.2:c.*33GT[6], NM_138318.2:c.*33GT[7], NM_138318.2:c.*33GT[8], NM_138318.2:c.*33GT[9], NM_138318.2:c.*33GT[11], NM_138318.2:c.*33GT[12], NM_138318.2:c.*33GT[13], NM_138318.2:c.*33GT[14], NM_138318.2:c.*33GT[15], XM_011536840.2:c.*33GT[6], XM_011536840.2:c.*33GT[7], XM_011536840.2:c.*33GT[8], XM_011536840.2:c.*33GT[9], XM_011536840.2:c.*33GT[11], XM_011536840.2:c.*33GT[12], XM_011536840.2:c.*33GT[13], XM_011536840.2:c.*33GT[14], XM_011536840.2:c.*33GT[15], XM_011536840.1:c.*33GT[6], XM_011536840.1:c.*33GT[7], XM_011536840.1:c.*33GT[8], XM_011536840.1:c.*33GT[9], XM_011536840.1:c.*33GT[11], XM_011536840.1:c.*33GT[12], XM_011536840.1:c.*33GT[13], XM_011536840.1:c.*33GT[14], XM_011536840.1:c.*33GT[15], XM_024449628.1:c.*33GT[6], XM_024449628.1:c.*33GT[7], XM_024449628.1:c.*33GT[8], XM_024449628.1:c.*33GT[9], XM_024449628.1:c.*33GT[11], XM_024449628.1:c.*33GT[12], XM_024449628.1:c.*33GT[13], XM_024449628.1:c.*33GT[14], XM_024449628.1:c.*33GT[15]
14.
rs1491025408 has merged into rs33933825 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAA>-,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 14:88255541
(GRCh38)
14:88721885
(GRCh37)
- Canonical SPDI:
- NC_000014.9:88255531:AAAAAAAAAAAAAAA:AAAAAAAAA,NC_000014.9:88255531:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:88255531:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:88255531:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:88255531:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:88255531:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:88255531:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:88255531:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- KCNK10 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
A=0.331669/1661
(1000Genomes)
- HGVS:
NC_000014.9:g.88255541_88255546del, NC_000014.9:g.88255545_88255546del, NC_000014.9:g.88255546del, NC_000014.9:g.88255546dup, NC_000014.9:g.88255545_88255546dup, NC_000014.9:g.88255544_88255546dup, NC_000014.9:g.88255543_88255546dup, NC_000014.9:g.88255535_88255546dup, NC_000014.8:g.88721885_88721890del, NC_000014.8:g.88721889_88721890del, NC_000014.8:g.88721890del, NC_000014.8:g.88721890dup, NC_000014.8:g.88721889_88721890dup, NC_000014.8:g.88721888_88721890dup, NC_000014.8:g.88721887_88721890dup, NC_000014.8:g.88721879_88721890dup
15.
rs1491005502 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TTGTGT
[Show Flanks]
- Chromosome:
- 14:88281842
(GRCh38)
14:88748187
(GRCh37)
- Canonical SPDI:
- NC_000014.9:88281842:TGTGT:TGTGTTTGTGT
- Gene:
- KCNK10 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TGTGTTTGTGT=0./0
(
ALFA)
TGTGTT=0.000021/3
(GnomAD)
- HGVS:
18.
rs1490926866 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:88293318
(GRCh38)
14:88759662
(GRCh37)
- Canonical SPDI:
- NC_000014.9:88293317:A:G
- Gene:
- KCNK10 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
19.
rs1490925135 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 14:88319440
(GRCh38)
14:88785784
(GRCh37)
- Canonical SPDI:
- NC_000014.9:88319439:C:A
- Gene:
- KCNK10 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
20.
rs1490872219 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:88220148
(GRCh38)
14:88686492
(GRCh37)
- Canonical SPDI:
- NC_000014.9:88220147:T:C
- Gene:
- KCNK10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS: