Links from Gene
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2.
rs1491143663 has merged into rs71472076 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 11:128864086
(GRCh38)
11:128733981
(GRCh37)
- Canonical SPDI:
- NC_000011.10:128864074:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:128864074:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:128864074:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:128864074:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:128864074:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:128864074:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:128864074:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:128864074:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:128864074:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:128864074:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:128864074:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:128864074:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:128864074:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:128864074:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:128864074:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:128864074:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:128864074:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:128864074:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:128864074:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:128864074:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:128864074:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:128864074:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:128864074:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:128864074:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:128864074:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:128864074:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:128864074:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:128864074:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:128864074:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:128864074:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:128864074:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- KCNJ1 (Varview), LOC107984409 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
TTTTTTTTTTTTTTTTTTT=0.0034/2
(NorthernSweden)
- HGVS:
NC_000011.10:g.128864086_128864101del, NC_000011.10:g.128864087_128864101del, NC_000011.10:g.128864088_128864101del, NC_000011.10:g.128864090_128864101del, NC_000011.10:g.128864091_128864101del, NC_000011.10:g.128864092_128864101del, NC_000011.10:g.128864093_128864101del, NC_000011.10:g.128864094_128864101del, NC_000011.10:g.128864095_128864101del, NC_000011.10:g.128864096_128864101del, NC_000011.10:g.128864097_128864101del, NC_000011.10:g.128864098_128864101del, NC_000011.10:g.128864099_128864101del, NC_000011.10:g.128864100_128864101del, NC_000011.10:g.128864101del, NC_000011.10:g.128864101dup, NC_000011.10:g.128864100_128864101dup, NC_000011.10:g.128864099_128864101dup, NC_000011.10:g.128864098_128864101dup, NC_000011.10:g.128864097_128864101dup, NC_000011.10:g.128864096_128864101dup, NC_000011.10:g.128864095_128864101dup, NC_000011.10:g.128864094_128864101dup, NC_000011.10:g.128864093_128864101dup, NC_000011.10:g.128864090_128864101dup, NC_000011.10:g.128864089_128864101dup, NC_000011.10:g.128864086_128864101dup, NC_000011.10:g.128864084_128864101dup, NC_000011.10:g.128864083_128864101dup, NC_000011.10:g.128864077_128864101dup, NC_000011.10:g.128864076_128864101dup, NC_000011.9:g.128733981_128733996del, NC_000011.9:g.128733982_128733996del, NC_000011.9:g.128733983_128733996del, NC_000011.9:g.128733985_128733996del, NC_000011.9:g.128733986_128733996del, NC_000011.9:g.128733987_128733996del, NC_000011.9:g.128733988_128733996del, NC_000011.9:g.128733989_128733996del, NC_000011.9:g.128733990_128733996del, NC_000011.9:g.128733991_128733996del, NC_000011.9:g.128733992_128733996del, NC_000011.9:g.128733993_128733996del, NC_000011.9:g.128733994_128733996del, NC_000011.9:g.128733995_128733996del, NC_000011.9:g.128733996del, NC_000011.9:g.128733996dup, NC_000011.9:g.128733995_128733996dup, NC_000011.9:g.128733994_128733996dup, NC_000011.9:g.128733993_128733996dup, NC_000011.9:g.128733992_128733996dup, NC_000011.9:g.128733991_128733996dup, NC_000011.9:g.128733990_128733996dup, NC_000011.9:g.128733989_128733996dup, NC_000011.9:g.128733988_128733996dup, NC_000011.9:g.128733985_128733996dup, NC_000011.9:g.128733984_128733996dup, NC_000011.9:g.128733981_128733996dup, NC_000011.9:g.128733979_128733996dup, NC_000011.9:g.128733978_128733996dup, NC_000011.9:g.128733972_128733996dup, NC_000011.9:g.128733971_128733996dup, NG_009379.1:g.8284_8299del, NG_009379.1:g.8285_8299del, NG_009379.1:g.8286_8299del, NG_009379.1:g.8288_8299del, NG_009379.1:g.8289_8299del, NG_009379.1:g.8290_8299del, NG_009379.1:g.8291_8299del, NG_009379.1:g.8292_8299del, NG_009379.1:g.8293_8299del, NG_009379.1:g.8294_8299del, NG_009379.1:g.8295_8299del, NG_009379.1:g.8296_8299del, NG_009379.1:g.8297_8299del, NG_009379.1:g.8298_8299del, NG_009379.1:g.8299del, NG_009379.1:g.8299dup, NG_009379.1:g.8298_8299dup, NG_009379.1:g.8297_8299dup, NG_009379.1:g.8296_8299dup, NG_009379.1:g.8295_8299dup, NG_009379.1:g.8294_8299dup, NG_009379.1:g.8293_8299dup, NG_009379.1:g.8292_8299dup, NG_009379.1:g.8291_8299dup, NG_009379.1:g.8288_8299dup, NG_009379.1:g.8287_8299dup, NG_009379.1:g.8284_8299dup, NG_009379.1:g.8282_8299dup, NG_009379.1:g.8281_8299dup, NG_009379.1:g.8275_8299dup, NG_009379.1:g.8274_8299dup
3.
rs1490902618 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:128838300
(GRCh38)
11:128708195
(GRCh37)
- Canonical SPDI:
- NC_000011.10:128838299:T:C
- Gene:
- KCNJ1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
C=0.000425/7
(TOMMO)
- HGVS:
NC_000011.10:g.128838300T>C, NC_000011.9:g.128708195T>C, NG_009379.1:g.34074A>G, NM_000220.6:c.*825A>G, NM_000220.5:c.*825A>G, NM_000220.4:c.*825A>G, NM_153767.4:c.*825A>G, NM_153767.3:c.*825A>G, NM_153766.3:c.*825A>G, NM_153766.2:c.*825A>G, NM_153765.3:c.*825A>G, NM_153765.2:c.*825A>G, NM_153764.3:c.*825A>G, NM_153764.2:c.*825A>G
4.
rs1490784309 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 11:128853573
(GRCh38)
11:128723468
(GRCh37)
- Canonical SPDI:
- NC_000011.10:128853572:A:T
- Gene:
- KCNJ1 (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=0.000007/1
(GnomAD)
- HGVS:
5.
rs1490736779 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:128862251
(GRCh38)
11:128732146
(GRCh37)
- Canonical SPDI:
- NC_000011.10:128862250:C:T
- Gene:
- KCNJ1 (Varview), LOC107984409 (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=0.000007/1
(GnomAD)
- HGVS:
6.
rs1490711356 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C,T
[Show Flanks]
- Chromosome:
- 11:128864344
(GRCh38)
11:128734239
(GRCh37)
- Canonical SPDI:
- NC_000011.10:128864343:G:A,NC_000011.10:128864343:G:C,NC_000011.10:128864343:G:T
- Gene:
- KCNJ1 (Varview), LOC107984409 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS:
7.
rs1490653181 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 11:128867183
(GRCh38)
11:128737078
(GRCh37)
- Canonical SPDI:
- NC_000011.10:128867182:G:C
- Gene:
- KCNJ1 (Varview), LOC107984409 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,genic_upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
NC_000011.10:g.128867183G>C, NC_000011.9:g.128737078G>C, NG_009379.1:g.5191C>G, NM_153767.4:c.-335C>G, NM_153767.3:c.-335C>G, NM_153766.3:c.-202C>G, NM_153766.2:c.-202C>G, NM_153765.3:c.-114C>G, NM_153765.2:c.-114C>G, NM_153764.3:c.-32C>G, NM_153764.2:c.-32C>G
8.
rs1490624072 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACT>-
[Show Flanks]
- Chromosome:
- 11:128867805
(GRCh38)
11:128737700
(GRCh37)
- Canonical SPDI:
- NC_000011.10:128867802:CTACT:CT
- Gene:
- KCNJ1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
CT=0./0
(
ALFA)
-=0.000023/6
(TOPMED)
- HGVS:
9.
rs1490483500 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 11:128845368
(GRCh38)
11:128715263
(GRCh37)
- Canonical SPDI:
- NC_000011.10:128845367:G:T
- Gene:
- KCNJ1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
10.
rs1490350069 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:128854959
(GRCh38)
11:128724854
(GRCh37)
- Canonical SPDI:
- NC_000011.10:128854958:T:C
- Gene:
- KCNJ1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,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:
11.
rs1490294283 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ATAT
[Show Flanks]
- Chromosome:
- 11:128868152
(GRCh38)
11:128738048
(GRCh37)
- Canonical SPDI:
- NC_000011.10:128868152:T:TATAT
- Gene:
- KCNJ1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TATAT=0./0
(
ALFA)
TATA=0.000008/2
(TOPMED)
- HGVS:
12.
rs1490239677 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,T
[Show Flanks]
- Chromosome:
- 11:128868494
(GRCh38)
11:128738389
(GRCh37)
- Canonical SPDI:
- NC_000011.10:128868493:A:C,NC_000011.10:128868493:A:T
- Gene:
- KCNJ1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000009/1
(GnomAD)
C=0.000035/1
(TOMMO)
- HGVS:
14.
rs1490064385 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:128862490
(GRCh38)
11:128732385
(GRCh37)
- Canonical SPDI:
- NC_000011.10:128862489:C:T
- Gene:
- KCNJ1 (Varview), LOC107984409 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
15.
rs1490035773 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:128861488
(GRCh38)
11:128731383
(GRCh37)
- Canonical SPDI:
- NC_000011.10:128861487:T:C
- Gene:
- KCNJ1 (Varview), LOC107984409 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
17.
rs1489555543 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 11:128866172
(GRCh38)
11:128736067
(GRCh37)
- Canonical SPDI:
- NC_000011.10:128866171:A:T
- Gene:
- KCNJ1 (Varview), LOC107984409 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,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:
18.
rs1489493607 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:128867208
(GRCh38)
11:128737103
(GRCh37)
- Canonical SPDI:
- NC_000011.10:128867207:C:T
- Gene:
- KCNJ1 (Varview), LOC107984409 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,genic_upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
NC_000011.10:g.128867208C>T, NC_000011.9:g.128737103C>T, NG_009379.1:g.5166G>A, NM_153767.4:c.-360G>A, NM_153767.3:c.-360G>A, NM_153766.3:c.-227G>A, NM_153766.2:c.-227G>A, NM_153765.3:c.-139G>A, NM_153765.2:c.-139G>A, NM_153764.3:c.-57G>A, NM_153764.2:c.-57G>A
19.
rs1489238337 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 11:128843425
(GRCh38)
11:128713320
(GRCh37)
- Canonical SPDI:
- NC_000011.10:128843424:A:C
- Gene:
- KCNJ1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD)
- HGVS:
20.
rs1489177186 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TATATAT
[Show Flanks]
- Chromosome:
- 11:128868669
(GRCh38)
11:128738565
(GRCh37)
- Canonical SPDI:
- NC_000011.10:128868669:ATATAT:ATATATTATATAT
- Gene:
- KCNJ1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
ATATATTATATAT=0.001939/23
(
ALFA)
ATATATT=0.000009/1
(GnomAD)
- HGVS: