Links from Nucleotide
Items: 1 to 20 of 100
1.
rs1488076233 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 3:156215738
(GRCh38)
3:155933527
(GRCh37)
- Canonical SPDI:
- NC_000003.12:156215737:C:A,NC_000003.12:156215737:C:T
- Gene:
- KCNAB1 (Varview), KCNAB1-AS2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
2.
rs1485916863 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 3:156227719
(GRCh38)
3:155945508
(GRCh37)
- Canonical SPDI:
- NC_000003.12:156227718:C:G,NC_000003.12:156227718:C:T
- Gene:
- KCNAB1 (Varview), KCNAB1-AS2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.00055/1
(Korea1K)
G=0.00074/12
(TOMMO)
G=0.00103/3
(KOREAN)
- HGVS:
3.
rs1477567952 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:156216948
(GRCh38)
3:155934737
(GRCh37)
- Canonical SPDI:
- NC_000003.12:156216947:A:G
- Gene:
- KCNAB1 (Varview), KCNAB1-AS2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_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)
- HGVS:
4.
rs1475909186 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 3:156215716
(GRCh38)
3:155933505
(GRCh37)
- Canonical SPDI:
- NC_000003.12:156215715:A:C
- Gene:
- KCNAB1 (Varview), KCNAB1-AS2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
C=0.000546/1
(Korea1K)
C=0.001486/25
(TOMMO)
- HGVS:
5.
rs1472058656 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 3:156227702
(GRCh38)
3:155945491
(GRCh37)
- Canonical SPDI:
- NC_000003.12:156227701:T:G
- Gene:
- KCNAB1 (Varview), KCNAB1-AS2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
6.
rs1456392162 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:156227776
(GRCh38)
3:155945565
(GRCh37)
- Canonical SPDI:
- NC_000003.12:156227775:C:T
- Gene:
- KCNAB1 (Varview), KCNAB1-AS2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
8.
rs1431115966 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 3:156215672
(GRCh38)
3:155933461
(GRCh37)
- Canonical SPDI:
- NC_000003.12:156215671:C:A
- Gene:
- KCNAB1 (Varview), KCNAB1-AS2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
9.
rs1429454270 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 3:156227709
(GRCh38)
3:155945498
(GRCh37)
- Canonical SPDI:
- NC_000003.12:156227708:G:A,NC_000003.12:156227708:G:T
- Gene:
- KCNAB1 (Varview), KCNAB1-AS2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
10.
rs1423626104 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 3:156215715
(GRCh38)
3:155933504
(GRCh37)
- Canonical SPDI:
- NC_000003.12:156215714:C:A,NC_000003.12:156215714:C:T
- Gene:
- KCNAB1 (Varview), KCNAB1-AS2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
11.
rs1418485228 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:156215570
(GRCh38)
3:155933359
(GRCh37)
- Canonical SPDI:
- NC_000003.12:156215569:A:G
- Gene:
- KCNAB1 (Varview), KCNAB1-AS2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
12.
rs1413874874 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:156227693
(GRCh38)
3:155945482
(GRCh37)
- Canonical SPDI:
- NC_000003.12:156227692:T:C
- Gene:
- KCNAB1 (Varview), KCNAB1-AS2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
13.
rs1406274546 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 3:156227779
(GRCh38)
3:155945568
(GRCh37)
- Canonical SPDI:
- NC_000003.12:156227778:T:A
- Gene:
- KCNAB1 (Varview), KCNAB1-AS2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
14.
rs1396116643 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 3:156216992
(GRCh38)
3:155934781
(GRCh37)
- Canonical SPDI:
- NC_000003.12:156216991:A:T
- Gene:
- KCNAB1 (Varview), KCNAB1-AS2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.0002/1
(
ALFA)
T=0.0002/1
(Estonian)
- HGVS:
15.
rs1382681810 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 3:156227770
(GRCh38)
3:155945559
(GRCh37)
- Canonical SPDI:
- NC_000003.12:156227769:A:T
- Gene:
- KCNAB1 (Varview), KCNAB1-AS2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
16.
rs1376549052 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 3:156227795
(GRCh38)
3:155945584
(GRCh37)
- Canonical SPDI:
- NC_000003.12:156227794:G:C
- Gene:
- KCNAB1 (Varview), KCNAB1-AS2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS:
17.
rs1375572141 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:156215698
(GRCh38)
3:155933487
(GRCh37)
- Canonical SPDI:
- NC_000003.12:156215697:G:A
- Gene:
- KCNAB1 (Varview), KCNAB1-AS2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
19.
rs1353165835 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:156215635
(GRCh38)
3:155933424
(GRCh37)
- Canonical SPDI:
- NC_000003.12:156215634:A:G
- Gene:
- KCNAB1 (Varview), KCNAB1-AS2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
20.
rs1345608244 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:156215657
(GRCh38)
3:155933446
(GRCh37)
- Canonical SPDI:
- NC_000003.12:156215656:C:T
- Gene:
- KCNAB1 (Varview), KCNAB1-AS2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS: