Links from Nucleotide
Items: 1 to 20 of 666
2.
rs1489940693 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:110518835
(GRCh38)
1:111061457
(GRCh37)
- Canonical SPDI:
- NC_000001.11:110518834:C:T
- Gene:
- KCNA10 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant
- Validated:
- by frequency
- MAF:
T=0.00001/1
(GnomAD_exomes)
- HGVS:
3.
rs1488438379 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 1:110518033
(GRCh38)
1:111060655
(GRCh37)
- Canonical SPDI:
- NC_000001.11:110518032:T:G
- Gene:
- KCNA10 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
4.
rs1488301986 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 1:110517820
(GRCh38)
1:111060442
(GRCh37)
- Canonical SPDI:
- NC_000001.11:110517819:A:C
- Gene:
- KCNA10 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
5.
rs1487773049 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGGTCGGG>-
[Show Flanks]
- Chromosome:
- 1:110517496
(GRCh38)
1:111060118
(GRCh37)
- Canonical SPDI:
- NC_000001.11:110517492:GGGGTGGTCGGG:GGG
- Gene:
- KCNA10 (Varview)
- Functional Consequence:
- inframe_deletion,coding_sequence_variant
- Validated:
- by frequency
- MAF:
-=0.000004/1
(GnomAD_exomes)
- HGVS:
7.
rs1485239614 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 1:110519007
(GRCh38)
1:111061629
(GRCh37)
- Canonical SPDI:
- NC_000001.11:110519006:G:T
- Gene:
- KCNA10 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
8.
rs1483569637 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:110518845
(GRCh38)
1:111061467
(GRCh37)
- Canonical SPDI:
- NC_000001.11:110518844:C:T
- Gene:
- KCNA10 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
9.
rs1481150754 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:110517917
(GRCh38)
1:111060539
(GRCh37)
- Canonical SPDI:
- NC_000001.11:110517916:C:T
- Gene:
- KCNA10 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
10.
rs1478964354 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:110517498
(GRCh38)
1:111060120
(GRCh37)
- Canonical SPDI:
- NC_000001.11:110517497:G:A
- Gene:
- KCNA10 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000051/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000008/2
(GnomAD_exomes)
- HGVS:
11.
rs1477933143 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:110518438
(GRCh38)
1:111061060
(GRCh37)
- Canonical SPDI:
- NC_000001.11:110518437:T:C
- Gene:
- KCNA10 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000111/1
(
ALFA)
C=0.000004/1
(GnomAD_exomes)
- HGVS:
12.
rs1474641680 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:110518155
(GRCh38)
1:111060777
(GRCh37)
- Canonical SPDI:
- NC_000001.11:110518154:A:G
- Gene:
- KCNA10 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
13.
rs1474061041 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 1:110517863
(GRCh38)
1:111060485
(GRCh37)
- Canonical SPDI:
- NC_000001.11:110517862:T:A
- Gene:
- KCNA10 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
15.
rs1469478515 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:110518180
(GRCh38)
1:111060802
(GRCh37)
- Canonical SPDI:
- NC_000001.11:110518179:C:A
- Gene:
- KCNA10 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000028/1
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
16.
rs1469396348 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 1:110517430
(GRCh38)
1:111060052
(GRCh37)
- Canonical SPDI:
- NC_000001.11:110517429:A:T
- Gene:
- KCNA10 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
17.
rs1468343165 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:110518361
(GRCh38)
1:111060983
(GRCh37)
- Canonical SPDI:
- NC_000001.11:110518360:A:G
- Gene:
- KCNA10 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
18.
rs1468172545 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G,T
[Show Flanks]
- Chromosome:
- 1:110517506
(GRCh38)
1:111060128
(GRCh37)
- Canonical SPDI:
- NC_000001.11:110517505:A:C,NC_000001.11:110517505:A:G,NC_000001.11:110517505:A:T
- Gene:
- KCNA10 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
C=0.000035/1
(TOMMO)
- HGVS:
NC_000001.11:g.110517506A>C, NC_000001.11:g.110517506A>G, NC_000001.11:g.110517506A>T, NC_000001.10:g.111060128A>C, NC_000001.10:g.111060128A>G, NC_000001.10:g.111060128A>T, NM_005549.2:c.1282T>G, NM_005549.2:c.1282T>C, NM_005549.2:c.1282T>A, NP_005540.1:p.Cys428Gly, NP_005540.1:p.Cys428Arg, NP_005540.1:p.Cys428Ser
19.
rs1467359347 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 1:110518571
(GRCh38)
1:111061193
(GRCh37)
- Canonical SPDI:
- NC_000001.11:110518570:G:T
- Gene:
- KCNA10 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
20.
rs1463828421 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:110517927
(GRCh38)
1:111060549
(GRCh37)
- Canonical SPDI:
- NC_000001.11:110517926:C:A
- Gene:
- KCNA10 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS: