Links from Gene
Items: 1 to 20 of 770
1.
rs1491062551 has merged into rs34151345 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT,TTTTT,TTTTTT
[Show Flanks]
- Chromosome:
- 1:111908966
(GRCh38)
1:112451588
(GRCh37)
- Canonical SPDI:
- NC_000001.11:111908951:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:111908951:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:111908951:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:111908951:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:111908951:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:111908951:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
- Gene:
- KCND3 (Varview), KCND3-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTTTTT=0./0
(
ALFA)
T=0.4046/2026
(1000Genomes)
- HGVS:
NC_000001.11:g.111908966_111908967del, NC_000001.11:g.111908967del, NC_000001.11:g.111908967dup, NC_000001.11:g.111908966_111908967dup, NC_000001.11:g.111908965_111908967dup, NC_000001.11:g.111908964_111908967dup, NC_000001.10:g.112451588_112451589del, NC_000001.10:g.112451589del, NC_000001.10:g.112451589dup, NC_000001.10:g.112451588_112451589dup, NC_000001.10:g.112451587_112451589dup, NC_000001.10:g.112451586_112451589dup, NG_032011.2:g.85203_85204del, NG_032011.2:g.85204del, NG_032011.2:g.85204dup, NG_032011.2:g.85203_85204dup, NG_032011.2:g.85202_85204dup, NG_032011.2:g.85201_85204dup
2.
rs1488841246 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 1:111908115
(GRCh38)
1:112450737
(GRCh37)
- Canonical SPDI:
- NC_000001.11:111908114:T:G
- Gene:
- KCND3 (Varview), KCND3-AS1 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
3.
rs1488219998 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:111907902
(GRCh38)
1:112450524
(GRCh37)
- Canonical SPDI:
- NC_000001.11:111907901:T:C
- Gene:
- KCND3 (Varview), KCND3-AS1 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
4.
rs1488161360 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:111909096
(GRCh38)
1:112451718
(GRCh37)
- Canonical SPDI:
- NC_000001.11:111909095:C:T
- Gene:
- KCND3 (Varview), KCND3-AS1 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000094/1
(
ALFA)
T=0.000038/10
(TOPMED)
T=0.000043/6
(GnomAD)
- HGVS:
6.
rs1487569407 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:111908301
(GRCh38)
1:112450923
(GRCh37)
- Canonical SPDI:
- NC_000001.11:111908300:A:G
- Gene:
- KCND3 (Varview), KCND3-AS1 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_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:
7.
rs1487364982 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:111910256
(GRCh38)
1:112452878
(GRCh37)
- Canonical SPDI:
- NC_000001.11:111910255:C:T
- Gene:
- KCND3 (Varview), KCND3-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000015/4
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
8.
rs1485870327 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 1:111910185
(GRCh38)
1:112452807
(GRCh37)
- Canonical SPDI:
- NC_000001.11:111910184:A:G,NC_000001.11:111910184:A:T
- Gene:
- KCND3 (Varview), KCND3-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
9.
rs1485502494 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 1:111910323
(GRCh38)
1:112452945
(GRCh37)
- Canonical SPDI:
- NC_000001.11:111910321:ACA:A
- Gene:
- KCND3 (Varview), KCND3-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
10.
rs1483391179 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:111911171
(GRCh38)
1:112453793
(GRCh37)
- Canonical SPDI:
- NC_000001.11:111911170:A:G
- Gene:
- KCND3 (Varview), KCND3-AS1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,intron_variant,500B_downstream_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000019/5
(TOPMED)
G=0.000029/4
(GnomAD)
- HGVS:
11.
rs1482823380 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:111909898
(GRCh38)
1:112452520
(GRCh37)
- Canonical SPDI:
- NC_000001.11:111909897:G:C
- Gene:
- KCND3 (Varview), KCND3-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
12.
rs1482523105 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:111911154
(GRCh38)
1:112453776
(GRCh37)
- Canonical SPDI:
- NC_000001.11:111911153:C:T
- Gene:
- KCND3 (Varview), KCND3-AS1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,intron_variant,500B_downstream_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
14.
rs1479213034 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:111910271
(GRCh38)
1:112452893
(GRCh37)
- Canonical SPDI:
- NC_000001.11:111910270:T:C
- Gene:
- KCND3 (Varview), KCND3-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
15.
rs1478503008 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:111908661
(GRCh38)
1:112451283
(GRCh37)
- Canonical SPDI:
- NC_000001.11:111908660:G:C
- Gene:
- KCND3 (Varview), KCND3-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
16.
rs1477216873 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 1:111909011
(GRCh38)
1:112451633
(GRCh37)
- Canonical SPDI:
- NC_000001.11:111909010:A:C
- Gene:
- KCND3 (Varview), KCND3-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
17.
rs1477154021 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:111908455
(GRCh38)
1:112451077
(GRCh37)
- Canonical SPDI:
- NC_000001.11:111908454:C:G
- Gene:
- KCND3 (Varview), KCND3-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000021/3
(GnomAD)
G=0.000026/7
(TOPMED)
- HGVS:
18.
rs1476871763 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:111910025
(GRCh38)
1:112452647
(GRCh37)
- Canonical SPDI:
- NC_000001.11:111910024:G:A
- Gene:
- KCND3 (Varview), KCND3-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
G=0.5/1
(SGDP_PRJ)
- HGVS:
20.
rs1474922167 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GAGG
[Show Flanks]
- Chromosome:
- 1:111910421
(GRCh38)
1:112453044
(GRCh37)
- Canonical SPDI:
- NC_000001.11:111910421:GGGAGG:GGGAGGGAGG
- Gene:
- KCND3 (Varview), KCND3-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GGGAGGGAGG=0./0
(
ALFA)
GGGA=0.000011/3
(TOPMED)
- HGVS: