Links from Gene
Items: 1 to 20 of 2028
2.
rs1490716960 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 20:45706599
(GRCh38)
20:44335238
(GRCh37)
- Canonical SPDI:
- NC_000020.11:45706598:C:T
- Gene:
- WFDC13 (Varview), WFDC10B (Varview), MIR3617 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
3.
rs1490544597 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 20:45705303
(GRCh38)
20:44333942
(GRCh37)
- Canonical SPDI:
- NC_000020.11:45705302:C:A
- Gene:
- WFDC13 (Varview), WFDC10B (Varview), MIR3617 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
4.
rs1490403647 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 20:45702181
(GRCh38)
20:44330820
(GRCh37)
- Canonical SPDI:
- NC_000020.11:45702180:G:A
- Gene:
- WFDC13 (Varview), WFDC10B (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,intron_variant
- Validated:
- by frequency,by cluster
- MAF:
A=0.0005/1
(Korea1K)
- HGVS:
5.
rs1489663421 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 20:45704172
(GRCh38)
20:44332811
(GRCh37)
- Canonical SPDI:
- NC_000020.11:45704171:G:A
- Gene:
- WFDC13 (Varview), WFDC10B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
6.
rs1489542525 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 20:45708393
(GRCh38)
20:44337032
(GRCh37)
- Canonical SPDI:
- NC_000020.11:45708392:A:G
- Gene:
- WFDC13 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0./0
(KOREAN)
G=0.000007/1
(GnomAD)
G=0.000015/4
(TOPMED)
- HGVS:
7.
rs1489236986 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 20:45701098
(GRCh38)
20:44329737
(GRCh37)
- Canonical SPDI:
- NC_000020.11:45701097:A:G
- Gene:
- WFDC13 (Varview), WFDC10B (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
8.
rs1488393388 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 20:45708987
(GRCh38)
20:44337626
(GRCh37)
- Canonical SPDI:
- NC_000020.11:45708986:CA:
- Gene:
- WFDC13 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000036/5
(GnomAD)
- HGVS:
9.
rs1488375241 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 20:45708663
(GRCh38)
20:44337302
(GRCh37)
- Canonical SPDI:
- NC_000020.11:45708662:A:G
- Gene:
- WFDC13 (Varview)
- Functional Consequence:
- 3_prime_UTR_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.
rs1488180982 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 20:45704644
(GRCh38)
20:44333283
(GRCh37)
- Canonical SPDI:
- NC_000020.11:45704643:C:A,NC_000020.11:45704643:C:T
- Gene:
- WFDC13 (Varview), WFDC10B (Varview), MIR3617 (Varview)
- Functional Consequence:
- 500B_downstream_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
A=0.000035/1
(TOMMO)
- HGVS:
12.
rs1488082378 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 20:45705367
(GRCh38)
20:44334006
(GRCh37)
- Canonical SPDI:
- NC_000020.11:45705366:A:G
- Gene:
- WFDC13 (Varview), WFDC10B (Varview), MIR3617 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
13.
rs1488045166 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 20:45707660
(GRCh38)
20:44336299
(GRCh37)
- Canonical SPDI:
- NC_000020.11:45707659:C:T
- Gene:
- WFDC13 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
14.
rs1487596629 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 20:45708702
(GRCh38)
20:44337341
(GRCh37)
- Canonical SPDI:
- NC_000020.11:45708701:T:A,NC_000020.11:45708701:T:C
- Gene:
- WFDC13 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000021/3
(GnomAD)
- HGVS:
15.
rs1487034435 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 20:45705200
(GRCh38)
20:44333839
(GRCh37)
- Canonical SPDI:
- NC_000020.11:45705199:TTTTTT:TTTTT
- Gene:
- WFDC13 (Varview), WFDC10B (Varview), MIR3617 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTT=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
16.
rs1486887222 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 20:45701989
(GRCh38)
20:44330628
(GRCh37)
- Canonical SPDI:
- NC_000020.11:45701988:G:T
- Gene:
- WFDC13 (Varview), WFDC10B (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000014/2
(GnomAD)
T=0.000035/1
(TOMMO)
- HGVS:
17.
rs1486635310 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 20:45706413
(GRCh38)
20:44335052
(GRCh37)
- Canonical SPDI:
- NC_000020.11:45706412:A:C
- Gene:
- WFDC13 (Varview), WFDC10B (Varview), MIR3617 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000084/1
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
18.
rs1486544104 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 20:45705071
(GRCh38)
20:44333710
(GRCh37)
- Canonical SPDI:
- NC_000020.11:45705070:G:C
- Gene:
- WFDC13 (Varview), WFDC10B (Varview), MIR3617 (Varview)
- Functional Consequence:
- downstream_transcript_variant,upstream_transcript_variant,intron_variant,500B_downstream_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:
19.
rs1486309589 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 20:45706821
(GRCh38)
20:44335460
(GRCh37)
- Canonical SPDI:
- NC_000020.11:45706820:C:G
- Gene:
- WFDC13 (Varview), WFDC10B (Varview), MIR3617 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000015/4
(TOPMED)
- HGVS:
20.
rs1485965095 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 20:45703610
(GRCh38)
20:44332249
(GRCh37)
- Canonical SPDI:
- NC_000020.11:45703609:G:A
- Gene:
- WFDC13 (Varview), WFDC10B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS: