Links from Nucleotide
Items: 1 to 20 of 12177
1.
rs1491529762 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CGTGTGTGTG
[Show Flanks]
- Chromosome:
- 11:17732889
(GRCh38)
11:17754437
(GRCh37)
- Canonical SPDI:
- NC_000011.10:17732889:GTGTGTGTG:GTGTGTGTGCGTGTGTGTG
- Gene:
- KCNC1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GTGTGTGTGCGTGTGTGTG=0.000071/1
(
ALFA)
GTGTGTGTGC=0.000004/1
(TOPMED)
- HGVS:
2.
rs1491463665 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,C,T
[Show Flanks]
- Chromosome:
- 11:17768622
(GRCh38)
11:17790170
(GRCh37)
- Canonical SPDI:
- NC_000011.10:17768622::A,NC_000011.10:17768622::C,NC_000011.10:17768622::T
- Gene:
- KCNC1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
T=0.00074/12
(TOMMO)
- HGVS:
3.
rs1491454185 has merged into rs56771220 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGT>-,GT,GTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 11:17734282
(GRCh38)
11:17755829
(GRCh37)
- Canonical SPDI:
- NC_000011.10:17734263:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000011.10:17734263:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000011.10:17734263:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:17734263:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:17734263:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:17734263:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:17734263:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:17734263:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:17734263:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:17734263:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:17734263:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:17734263:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:17734263:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:17734263:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:17734263:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:17734263:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:17734263:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:17734263:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:17734263:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:17734263:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:17734263:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:17734263:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:17734263:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- KCNC1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGTGTGTGTGTGT=0./0
(
ALFA)
-=0.3994/2000
(1000Genomes)
-=0.5/20
(GENOME_DK)
- HGVS:
NC_000011.10:g.17734264GT[9], NC_000011.10:g.17734264GT[10], NC_000011.10:g.17734264GT[11], NC_000011.10:g.17734264GT[13], NC_000011.10:g.17734264GT[14], NC_000011.10:g.17734264GT[15], NC_000011.10:g.17734264GT[16], NC_000011.10:g.17734264GT[17], NC_000011.10:g.17734264GT[18], NC_000011.10:g.17734264GT[19], NC_000011.10:g.17734264GT[20], NC_000011.10:g.17734264GT[21], NC_000011.10:g.17734264GT[22], NC_000011.10:g.17734264GT[23], NC_000011.10:g.17734264GT[24], NC_000011.10:g.17734264GT[25], NC_000011.10:g.17734264GT[26], NC_000011.10:g.17734264GT[27], NC_000011.10:g.17734264GT[28], NC_000011.10:g.17734264GT[29], NC_000011.10:g.17734264GT[30], NC_000011.10:g.17734264GT[31], NC_000011.10:g.17734264GT[32], NC_000011.9:g.17755811GT[9], NC_000011.9:g.17755811GT[10], NC_000011.9:g.17755811GT[11], NC_000011.9:g.17755811GT[13], NC_000011.9:g.17755811GT[14], NC_000011.9:g.17755811GT[15], NC_000011.9:g.17755811GT[16], NC_000011.9:g.17755811GT[17], NC_000011.9:g.17755811GT[18], NC_000011.9:g.17755811GT[19], NC_000011.9:g.17755811GT[20], NC_000011.9:g.17755811GT[21], NC_000011.9:g.17755811GT[22], NC_000011.9:g.17755811GT[23], NC_000011.9:g.17755811GT[24], NC_000011.9:g.17755811GT[25], NC_000011.9:g.17755811GT[26], NC_000011.9:g.17755811GT[27], NC_000011.9:g.17755811GT[28], NC_000011.9:g.17755811GT[29], NC_000011.9:g.17755811GT[30], NC_000011.9:g.17755811GT[31], NC_000011.9:g.17755811GT[32], NG_041827.1:g.3317GT[9], NG_041827.1:g.3317GT[10], NG_041827.1:g.3317GT[11], NG_041827.1:g.3317GT[13], NG_041827.1:g.3317GT[14], NG_041827.1:g.3317GT[15], NG_041827.1:g.3317GT[16], NG_041827.1:g.3317GT[17], NG_041827.1:g.3317GT[18], NG_041827.1:g.3317GT[19], NG_041827.1:g.3317GT[20], NG_041827.1:g.3317GT[21], NG_041827.1:g.3317GT[22], NG_041827.1:g.3317GT[23], NG_041827.1:g.3317GT[24], NG_041827.1:g.3317GT[25], NG_041827.1:g.3317GT[26], NG_041827.1:g.3317GT[27], NG_041827.1:g.3317GT[28], NG_041827.1:g.3317GT[29], NG_041827.1:g.3317GT[30], NG_041827.1:g.3317GT[31], NG_041827.1:g.3317GT[32]
4.
rs1491363269 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 11:17768611
(GRCh38)
11:17790159
(GRCh37)
- Canonical SPDI:
- NC_000011.10:17768611:T:TT
- Gene:
- KCNC1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
T=0.000142/2
(TOMMO)
T=0.000204/21
(GnomAD)
T=0.000551/1
(Korea1K)
- HGVS:
5.
rs1491284088 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 11:17777747
(GRCh38)
11:17799294
(GRCh37)
- Canonical SPDI:
- NC_000011.10:17777746:CT:
- Gene:
- KCNC1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.000043/6
(GnomAD)
- HGVS:
9.
rs1491157397 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GC>-
[Show Flanks]
- Chromosome:
- 11:17756559
(GRCh38)
11:17778106
(GRCh37)
- Canonical SPDI:
- NC_000011.10:17756557:CGC:C
- Gene:
- KCNC1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
-=0./0
(GnomAD)
- HGVS:
10.
rs1491105530 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CGTGTGTGTGTGTGTGTG
[Show Flanks]
- Chromosome:
- 11:17732887
(GRCh38)
11:17754435
(GRCh37)
- Canonical SPDI:
- NC_000011.10:17732887:GTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGCGTGTGTGTGTGTGTGTG
- Gene:
- KCNC1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GTGTGTGTGTGTGTGTGCGTGTGTGTGTGTGTGTG=0./0
(
ALFA)
GTGTGTGTGTGTGTGTGC=0.0003/11
(GnomAD)
- HGVS:
11.
rs1491077547 has merged into rs33931057 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAA>-,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 11:17766977
(GRCh38)
11:17788524
(GRCh37)
- Canonical SPDI:
- NC_000011.10:17766967:AAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000011.10:17766967:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:17766967:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:17766967:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:17766967:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:17766967:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:17766967:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:17766967:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
- Gene:
- KCNC1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.3644/1825
(1000Genomes)
- HGVS:
NC_000011.10:g.17766977_17766984del, NC_000011.10:g.17766983_17766984del, NC_000011.10:g.17766984del, NC_000011.10:g.17766984dup, NC_000011.10:g.17766983_17766984dup, NC_000011.10:g.17766982_17766984dup, NC_000011.10:g.17766981_17766984dup, NC_000011.10:g.17766980_17766984dup, NC_000011.9:g.17788524_17788531del, NC_000011.9:g.17788530_17788531del, NC_000011.9:g.17788531del, NC_000011.9:g.17788531dup, NC_000011.9:g.17788530_17788531dup, NC_000011.9:g.17788529_17788531dup, NC_000011.9:g.17788528_17788531dup, NC_000011.9:g.17788527_17788531dup, NG_041827.1:g.36030_36037del, NG_041827.1:g.36036_36037del, NG_041827.1:g.36037del, NG_041827.1:g.36037dup, NG_041827.1:g.36036_36037dup, NG_041827.1:g.36035_36037dup, NG_041827.1:g.36034_36037dup, NG_041827.1:g.36033_36037dup
12.
rs1491072348 has merged into rs563423204 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CC>-,C,CCC
[Show Flanks]
- Chromosome:
- 11:17764141
(GRCh38)
11:17785688
(GRCh37)
- Canonical SPDI:
- NC_000011.10:17764135:CCCCCCC:CCCCC,NC_000011.10:17764135:CCCCCCC:CCCCCC,NC_000011.10:17764135:CCCCCCC:CCCCCCCC
- Gene:
- KCNC1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCCCCC=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.002599/13
(1000Genomes)
-=0.009018/9
(GoNL)
C=0.018931/317
(TOMMO)
-=0.023333/14
(NorthernSweden)
-=0.025/1
(GENOME_DK)
- HGVS:
13.
rs1490905406 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:17779640
(GRCh38)
11:17801187
(GRCh37)
- Canonical SPDI:
- NC_000011.10:17779639:A:G
- Gene:
- KCNC1 (Varview)
- Functional Consequence:
- coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
14.
rs1490885542 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:17769180
(GRCh38)
11:17790727
(GRCh37)
- Canonical SPDI:
- NC_000011.10:17769179:T:C
- Gene:
- KCNC1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000019/5
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS:
15.
rs1490855462 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 11:17778986
(GRCh38)
11:17800533
(GRCh37)
- Canonical SPDI:
- NC_000011.10:17778985:T:C,NC_000011.10:17778985:T:G
- Gene:
- KCNC1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000021/3
(GnomAD)
G=0.000546/1
(Korea1K)
- HGVS:
16.
rs1490805859 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:17734901
(GRCh38)
11:17756448
(GRCh37)
- Canonical SPDI:
- NC_000011.10:17734900:C:T
- Gene:
- KCNC1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant,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:
17.
rs1490793473 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:17784844
(GRCh38)
11:17806391
(GRCh37)
- Canonical SPDI:
- NC_000011.10:17784843:A:G
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
18.
rs1490657606 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:17734597
(GRCh38)
11:17756144
(GRCh37)
- Canonical SPDI:
- NC_000011.10:17734596:C:T
- Gene:
- KCNC1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,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:
19.
rs1490643426 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 11:17735248
(GRCh38)
11:17756795
(GRCh37)
- Canonical SPDI:
- NC_000011.10:17735247:C:A
- Gene:
- KCNC1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
20.
rs1490611390 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 11:17749229
(GRCh38)
11:17770776
(GRCh37)
- Canonical SPDI:
- NC_000011.10:17749228:A:C
- Gene:
- KCNC1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000019/5
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS: