Links from Gene
Items: 1 to 20 of 9631
1.
rs1490971609 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:150959244
(GRCh38)
7:150656332
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150959243:G:A
- Gene:
- KCNH2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
2.
rs1490935208 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 7:150977637
(GRCh38)
7:150674725
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150977636:A:C
- Gene:
- KCNH2 (Varview), LOC124901776 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.07376/875
(
ALFA)
C=0.00103/29
(TOMMO)
C=0.0138/40
(KOREAN)
- HGVS:
3.
rs1490768766 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 7:150975901
(GRCh38)
7:150672989
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150975900:C:G
- Gene:
- KCNH2 (Varview), LOC124901776 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000023/6
(TOPMED)
G=0.000029/4
(GnomAD)
- HGVS:
4.
rs1490631458 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:150950742
(GRCh38)
7:150647830
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150950741:T:C
- Gene:
- KCNH2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
6.
rs1490495838 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,G,T
[Show Flanks]
- Chromosome:
- 7:150978407
(GRCh38)
7:150675496
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150978407::A,NC_000007.14:150978407::G,NC_000007.14:150978407::T
- Gene:
- KCNH2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
8.
rs1490193941 has merged into rs1229387192 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACACACACACACACACACACACACACACA>-,CA,CACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
[Show Flanks]
- Chromosome:
- 7:150978933
(GRCh38)
7:150676021
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150978931:ACACACACACACACACACACACACACACACACACA:A,NC_000007.14:150978931:ACACACACACACACACACACACACACACACACACA:ACA,NC_000007.14:150978931:ACACACACACACACACACACACACACACACACACA:ACACA,NC_000007.14:150978931:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000007.14:150978931:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000007.14:150978931:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000007.14:150978931:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000007.14:150978931:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000007.14:150978931:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000007.14:150978931:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000007.14:150978931:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000007.14:150978931:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000007.14:150978931:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000007.14:150978931:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000007.14:150978931:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000007.14:150978931:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000007.14:150978931:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000007.14:150978931:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000007.14:150978931:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000007.14:150978931:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000007.14:150978931:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
- Gene:
- KCNH2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000007.14:g.150978933_150978966del, NC_000007.14:g.150978933CA[1], NC_000007.14:g.150978933CA[2], NC_000007.14:g.150978933CA[8], NC_000007.14:g.150978933CA[9], NC_000007.14:g.150978933CA[10], NC_000007.14:g.150978933CA[11], NC_000007.14:g.150978933CA[12], NC_000007.14:g.150978933CA[13], NC_000007.14:g.150978933CA[14], NC_000007.14:g.150978933CA[15], NC_000007.14:g.150978933CA[16], NC_000007.14:g.150978933CA[18], NC_000007.14:g.150978933CA[19], NC_000007.14:g.150978933CA[20], NC_000007.14:g.150978933CA[21], NC_000007.14:g.150978933CA[22], NC_000007.14:g.150978933CA[23], NC_000007.14:g.150978933CA[24], NC_000007.14:g.150978933CA[31], NC_000007.14:g.150978933CA[34], NC_000007.13:g.150676021_150676054del, NC_000007.13:g.150676021CA[1], NC_000007.13:g.150676021CA[2], NC_000007.13:g.150676021CA[8], NC_000007.13:g.150676021CA[9], NC_000007.13:g.150676021CA[10], NC_000007.13:g.150676021CA[11], NC_000007.13:g.150676021CA[12], NC_000007.13:g.150676021CA[13], NC_000007.13:g.150676021CA[14], NC_000007.13:g.150676021CA[15], NC_000007.13:g.150676021CA[16], NC_000007.13:g.150676021CA[18], NC_000007.13:g.150676021CA[19], NC_000007.13:g.150676021CA[20], NC_000007.13:g.150676021CA[21], NC_000007.13:g.150676021CA[22], NC_000007.13:g.150676021CA[23], NC_000007.13:g.150676021CA[24], NC_000007.13:g.150676021CA[31], NC_000007.13:g.150676021CA[34], NG_008916.1:g.3962_3995del, NG_008916.1:g.3962GT[1], NG_008916.1:g.3962GT[2], NG_008916.1:g.3962GT[8], NG_008916.1:g.3962GT[9], NG_008916.1:g.3962GT[10], NG_008916.1:g.3962GT[11], NG_008916.1:g.3962GT[12], NG_008916.1:g.3962GT[13], NG_008916.1:g.3962GT[14], NG_008916.1:g.3962GT[15], NG_008916.1:g.3962GT[16], NG_008916.1:g.3962GT[18], NG_008916.1:g.3962GT[19], NG_008916.1:g.3962GT[20], NG_008916.1:g.3962GT[21], NG_008916.1:g.3962GT[22], NG_008916.1:g.3962GT[23], NG_008916.1:g.3962GT[24], NG_008916.1:g.3962GT[31], NG_008916.1:g.3962GT[34]
9.
rs1490103642 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:150947465
(GRCh38)
7:150644553
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150947464:C:T
- Gene:
- KCNH2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
- HGVS:
NC_000007.14:g.150947465C>T, NC_000007.13:g.150644553C>T, NG_008916.1:g.35462G>A, NM_000238.4:c.3015G>A, NM_000238.3:c.3015G>A, NM_172057.3:c.1995G>A, NM_172057.2:c.1995G>A, NR_176254.1:n.3236G>A, NM_001406753.1:c.2727G>A, NR_176255.1:n.2109G>A, XM_011516185.3:c.2715G>A, XM_011516185.2:c.2715G>A, XM_011516185.1:c.2715G>A, XM_017012195.2:c.2865G>A, XM_017012195.1:c.2865G>A, XM_017012196.2:c.2838G>A, XM_017012196.1:c.2838G>A, XM_047420348.1:c.3093G>A, XM_047420349.1:c.*95G>A
10.
rs1490042507 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:150962579
(GRCh38)
7:150659667
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150962578:C:T
- Gene:
- KCNH2 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000054/1
(
ALFA)
T=0.000019/5
(TOPMED)
T=0.000029/4
(GnomAD)
T=0.000223/1
(Estonian)
- HGVS:
11.
rs1489942324 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:150976871
(GRCh38)
7:150673959
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150976870:A:G
- Gene:
- KCNH2 (Varview), LOC124901776 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
12.
rs1489883176 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 7:150957642
(GRCh38)
7:150654730
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150957641:G:A,NC_000007.14:150957641:G:C
- Gene:
- KCNH2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.00005/7
(GnomAD)
- HGVS:
13.
rs1489831109 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,T
[Show Flanks]
- Chromosome:
- 7:150950062
(GRCh38)
7:150647150
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150950061:A:C,NC_000007.14:150950061:A:T
- Gene:
- KCNH2 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,intron_variant
- Clinical significance:
- likely-benign
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
NC_000007.14:g.150950062A>C, NC_000007.14:g.150950062A>T, NC_000007.13:g.150647150A>C, NC_000007.13:g.150647150A>T, NG_008916.1:g.32865T>G, NG_008916.1:g.32865T>A, NM_172056.3:c.2504T>G, NM_172056.3:c.2504T>A, NM_172056.2:c.2504T>G, NM_172056.2:c.2504T>A, NM_001204798.2:c.1484T>G, NM_001204798.2:c.1484T>A, NM_001204798.1:c.1484T>G, NM_001204798.1:c.1484T>A, NM_001406756.1:c.2216T>G, NM_001406756.1:c.2216T>A, NM_001406755.1:c.2327T>G, NM_001406755.1:c.2327T>A, NM_001406757.1:c.2204T>G, NM_001406757.1:c.2204T>A, NP_742053.1:p.Leu835Arg, NP_742053.1:p.Leu835Gln, NP_001191727.1:p.Leu495Arg, NP_001191727.1:p.Leu495Gln
15.
rs1489678471 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:150965697
(GRCh38)
7:150662785
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150965696:A:G
- Gene:
- KCNH2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
16.
rs1489554227 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 7:150963641
(GRCh38)
7:150660729
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150963640:C:G
- Gene:
- KCNH2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000066/1
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000019/5
(TOPMED)
G=0.000223/1
(Estonian)
- HGVS:
18.
rs1489418668 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:150969494
(GRCh38)
7:150666582
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150969493:T:C
- Gene:
- KCNH2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000015/4
(TOPMED)
C=0.001667/1
(NorthernSweden)
- HGVS:
19.
rs1489383422 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:150952449
(GRCh38)
7:150649537
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150952448:G:A
- Gene:
- KCNH2 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Clinical significance:
- likely-benign
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
A=0.000004/1
(TOPMED)
- HGVS:
NC_000007.14:g.150952449G>A, NC_000007.13:g.150649537G>A, NG_008916.1:g.30478C>T, NM_000238.4:c.1533C>T, NM_000238.3:c.1533C>T, NM_172056.3:c.1533C>T, NM_172056.2:c.1533C>T, NM_172057.3:c.513C>T, NM_172057.2:c.513C>T, NM_001204798.2:c.513C>T, NM_001204798.1:c.513C>T, NR_176254.1:n.1941C>T, NM_001406753.1:c.1245C>T, NM_001406756.1:c.1245C>T, NM_001406755.1:c.1356C>T, NM_001406757.1:c.1233C>T, NR_176255.1:n.814C>T, XM_011516185.3:c.1233C>T, XM_011516185.2:c.1233C>T, XM_011516185.1:c.1233C>T, XM_017012195.2:c.1383C>T, XM_017012195.1:c.1383C>T, XM_017012196.2:c.1356C>T, XM_017012196.1:c.1356C>T, XM_047420348.1:c.1611C>T, XM_047420349.1:c.1611C>T
20.
rs1489266277 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:150979171
(GRCh38)
7:150676259
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150979170:A:G
- Gene:
- KCNH2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
G=0.000035/1
(TOMMO)
- HGVS: