Links from Gene
Items: 1 to 20 of 4999
2.
rs1490969106 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 1:178492021
(GRCh38)
1:178461156
(GRCh37)
- Canonical SPDI:
- NC_000001.11:178492020:T:A
- Gene:
- CLEC20A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
3.
rs1490499259 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:178499271
(GRCh38)
1:178468406
(GRCh37)
- Canonical SPDI:
- NC_000001.11:178499270:T:C
- Gene:
- CLEC20A (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
4.
rs1490468909 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GACATCTGTCTT>-
[Show Flanks]
- Chromosome:
- 1:178485438
(GRCh38)
1:178454573
(GRCh37)
- Canonical SPDI:
- NC_000001.11:178485435:TTGACATCTGTCTT:TT
- Gene:
- CLEC20A (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0.000071/1
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.000021/3
(GnomAD)
- HGVS:
5.
rs1490145325 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:178486375
(GRCh38)
1:178455510
(GRCh37)
- Canonical SPDI:
- NC_000001.11:178486374:C:A
- Gene:
- CLEC20A (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
6.
rs1490137564 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 1:178500956
(GRCh38)
1:178470091
(GRCh37)
- Canonical SPDI:
- NC_000001.11:178500955:A:C
- Gene:
- CLEC20A (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
7.
rs1489220643 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:178496345
(GRCh38)
1:178465480
(GRCh37)
- Canonical SPDI:
- NC_000001.11:178496344:A:G
- Gene:
- CLEC20A (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
8.
rs1489124209 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:178491292
(GRCh38)
1:178460427
(GRCh37)
- Canonical SPDI:
- NC_000001.11:178491291:C:A
- Gene:
- CLEC20A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
9.
rs1489061669 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:178483321
(GRCh38)
1:178452456
(GRCh37)
- Canonical SPDI:
- NC_000001.11:178483320:A:G
- Gene:
- CLEC20A (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
10.
rs1488998676 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:178482292
(GRCh38)
1:178451427
(GRCh37)
- Canonical SPDI:
- NC_000001.11:178482291:A:G
- Gene:
- CLEC20A (Varview)
- Functional Consequence:
- intron_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:
11.
rs1488938303 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:178501069
(GRCh38)
1:178470204
(GRCh37)
- Canonical SPDI:
- NC_000001.11:178501068:A:G
- Gene:
- CLEC20A (Varview), LOC101928866 (Varview)
- Functional Consequence:
- 500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
12.
rs1488780562 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:178486394
(GRCh38)
1:178455529
(GRCh37)
- Canonical SPDI:
- NC_000001.11:178486393:T:C
- Gene:
- CLEC20A (Varview)
- Functional Consequence:
- intron_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:
13.
rs1488516674 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:178497225
(GRCh38)
1:178466360
(GRCh37)
- Canonical SPDI:
- NC_000001.11:178497224:C:T
- Gene:
- CLEC20A (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000495/8
(TOMMO)
T=0.001092/2
(Korea1K)
T=0.001711/5
(KOREAN)
- HGVS:
14.
rs1488126238 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:178492655
(GRCh38)
1:178461790
(GRCh37)
- Canonical SPDI:
- NC_000001.11:178492654:C:G
- Gene:
- CLEC20A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000342/1
(KOREAN)
G=0.000546/1
(Korea1K)
- HGVS:
17.
rs1488022884 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:178485714
(GRCh38)
1:178454849
(GRCh37)
- Canonical SPDI:
- NC_000001.11:178485713:C:G
- Gene:
- CLEC20A (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
18.
rs1488013978 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:178491786
(GRCh38)
1:178460921
(GRCh37)
- Canonical SPDI:
- NC_000001.11:178491785:T:C
- Gene:
- CLEC20A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
19.
rs1487963630 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:178485301
(GRCh38)
1:178454436
(GRCh37)
- Canonical SPDI:
- NC_000001.11:178485300:G:A
- Gene:
- CLEC20A (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
20.
rs1487901288 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:178491881
(GRCh38)
1:178461016
(GRCh37)
- Canonical SPDI:
- NC_000001.11:178491880:C:T
- Gene:
- CLEC20A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS: