Links from Gene
Items: 1 to 20 of 6204
1.
rs1491583290 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 20:45687864
(GRCh38)
20:44316503
(GRCh37)
- Canonical SPDI:
- NC_000020.11:45687863:TT:
- Gene:
- WFDC10B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000071/1
(
ALFA)
-=0.000008/1
(GnomAD)
-=0.00003/8
(TOPMED)
- HGVS:
4.
rs1491293923 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 20:45687891
(GRCh38)
20:44316530
(GRCh37)
- Canonical SPDI:
- NC_000020.11:45687888:TATA:TA
- Gene:
- WFDC10B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TATA=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
- HGVS:
5.
rs1491265795 has merged into rs11479569 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GGG>-,G,GG,GGGG,GGGGG,GGGGGG
[Show Flanks]
- Chromosome:
- 20:45686546
(GRCh38)
20:44315185
(GRCh37)
- Canonical SPDI:
- NC_000020.11:45686539:GGGGGGGGG:GGGGGG,NC_000020.11:45686539:GGGGGGGGG:GGGGGGG,NC_000020.11:45686539:GGGGGGGGG:GGGGGGGG,NC_000020.11:45686539:GGGGGGGGG:GGGGGGGGGG,NC_000020.11:45686539:GGGGGGGGG:GGGGGGGGGGG,NC_000020.11:45686539:GGGGGGGGG:GGGGGGGGGGGG
- Gene:
- WFDC10B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGGGGGGGGG=0./0
(
ALFA)
G=0.0699/127
(1000Genomes)
-=0.18356/768
(Estonian)
-=0.2/8
(GENOME_DK)
- HGVS:
NC_000020.11:g.45686546_45686548del, NC_000020.11:g.45686547_45686548del, NC_000020.11:g.45686548del, NC_000020.11:g.45686548dup, NC_000020.11:g.45686547_45686548dup, NC_000020.11:g.45686546_45686548dup, NC_000020.10:g.44315185_44315187del, NC_000020.10:g.44315186_44315187del, NC_000020.10:g.44315187del, NC_000020.10:g.44315187dup, NC_000020.10:g.44315186_44315187dup, NC_000020.10:g.44315185_44315187dup
6.
rs1491261696 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 20:45684176
(GRCh38)
20:44312815
(GRCh37)
- Canonical SPDI:
- NC_000020.11:45684175:TT:
- Gene:
- WFDC10B (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000356/5
(
ALFA)
-=0./0
(TWINSUK)
-=0.000106/2
(TOMMO)
-=0.000478/67
(GnomAD)
-=0.000778/3
(ALSPAC)
- HGVS:
7.
rs1491222107 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GTA
[Show Flanks]
- Chromosome:
- 20:45687864
(GRCh38)
20:44316504
(GRCh37)
- Canonical SPDI:
- NC_000020.11:45687864:TA:TAGTA
- Gene:
- WFDC10B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TAGTA=0./0
(
ALFA)
TAG=0.000004/1
(TOPMED)
TAG=0.000008/1
(GnomAD)
- HGVS:
8.
rs1491218635 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TTC,TTTG,TTTTA,TTTTTCA,TTTTTTA
[Show Flanks]
- Chromosome:
- 20:45697402
(GRCh38)
20:44326042
(GRCh37)
- Canonical SPDI:
- NC_000020.11:45697402::TTC,NC_000020.11:45697402::TTTG,NC_000020.11:45697402::TTTTA,NC_000020.11:45697402::TTTTTCA,NC_000020.11:45697402::TTTTTTA
- Gene:
- WFDC10B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
9.
rs1491210331 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 20:45697379
(GRCh38)
20:44326018
(GRCh37)
- Canonical SPDI:
- NC_000020.11:45697378:AT:
- Gene:
- WFDC10B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.00017/2
(
ALFA)
-=0.00019/17
(GnomAD)
- HGVS:
10.
rs1491166729 has merged into rs11479569 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GGG>-,G,GG,GGGG,GGGGG,GGGGGG
[Show Flanks]
- Chromosome:
- 20:45686546
(GRCh38)
20:44315185
(GRCh37)
- Canonical SPDI:
- NC_000020.11:45686539:GGGGGGGGG:GGGGGG,NC_000020.11:45686539:GGGGGGGGG:GGGGGGG,NC_000020.11:45686539:GGGGGGGGG:GGGGGGGG,NC_000020.11:45686539:GGGGGGGGG:GGGGGGGGGG,NC_000020.11:45686539:GGGGGGGGG:GGGGGGGGGGG,NC_000020.11:45686539:GGGGGGGGG:GGGGGGGGGGGG
- Gene:
- WFDC10B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGGGGGGGGG=0./0
(
ALFA)
G=0.0699/127
(1000Genomes)
-=0.18356/768
(Estonian)
-=0.2/8
(GENOME_DK)
- HGVS:
NC_000020.11:g.45686546_45686548del, NC_000020.11:g.45686547_45686548del, NC_000020.11:g.45686548del, NC_000020.11:g.45686548dup, NC_000020.11:g.45686547_45686548dup, NC_000020.11:g.45686546_45686548dup, NC_000020.10:g.44315185_44315187del, NC_000020.10:g.44315186_44315187del, NC_000020.10:g.44315187del, NC_000020.10:g.44315187dup, NC_000020.10:g.44315186_44315187dup, NC_000020.10:g.44315185_44315187dup
11.
rs1491165315 has merged into rs869059383 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 20:45697392
(GRCh38)
20:44326031
(GRCh37)
- Canonical SPDI:
- NC_000020.11:45697379:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:45697379:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:45697379:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:45697379:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:45697379:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:45697379:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:45697379:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:45697379:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:45697379:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:45697379:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:45697379:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:45697379:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:45697379:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:45697379:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:45697379:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:45697379:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:45697379:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:45697379:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:45697379:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:45697379:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:45697379:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:45697379:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:45697379:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:45697379:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:45697379:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:45697379:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:45697379:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:45697379:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- WFDC10B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000020.11:g.45697392_45697402del, NC_000020.11:g.45697393_45697402del, NC_000020.11:g.45697395_45697402del, NC_000020.11:g.45697396_45697402del, NC_000020.11:g.45697397_45697402del, NC_000020.11:g.45697398_45697402del, NC_000020.11:g.45697399_45697402del, NC_000020.11:g.45697400_45697402del, NC_000020.11:g.45697401_45697402del, NC_000020.11:g.45697402del, NC_000020.11:g.45697402dup, NC_000020.11:g.45697401_45697402dup, NC_000020.11:g.45697400_45697402dup, NC_000020.11:g.45697399_45697402dup, NC_000020.11:g.45697398_45697402dup, NC_000020.11:g.45697397_45697402dup, NC_000020.11:g.45697396_45697402dup, NC_000020.11:g.45697395_45697402dup, NC_000020.11:g.45697394_45697402dup, NC_000020.11:g.45697392_45697402dup, NC_000020.11:g.45697390_45697402dup, NC_000020.11:g.45697388_45697402dup, NC_000020.11:g.45697386_45697402dup, NC_000020.11:g.45697402_45697403insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.45697402_45697403insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.45697402_45697403insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.45697402_45697403insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.45697402_45697403insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.44326031_44326041del, NC_000020.10:g.44326032_44326041del, NC_000020.10:g.44326034_44326041del, NC_000020.10:g.44326035_44326041del, NC_000020.10:g.44326036_44326041del, NC_000020.10:g.44326037_44326041del, NC_000020.10:g.44326038_44326041del, NC_000020.10:g.44326039_44326041del, NC_000020.10:g.44326040_44326041del, NC_000020.10:g.44326041del, NC_000020.10:g.44326041dup, NC_000020.10:g.44326040_44326041dup, NC_000020.10:g.44326039_44326041dup, NC_000020.10:g.44326038_44326041dup, NC_000020.10:g.44326037_44326041dup, NC_000020.10:g.44326036_44326041dup, NC_000020.10:g.44326035_44326041dup, NC_000020.10:g.44326034_44326041dup, NC_000020.10:g.44326033_44326041dup, NC_000020.10:g.44326031_44326041dup, NC_000020.10:g.44326029_44326041dup, NC_000020.10:g.44326027_44326041dup, NC_000020.10:g.44326025_44326041dup, NC_000020.10:g.44326041_44326042insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.44326041_44326042insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.44326041_44326042insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.44326041_44326042insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.44326041_44326042insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
12.
rs1491111520 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 20:45686539
(GRCh38)
20:44315178
(GRCh37)
- Canonical SPDI:
- NC_000020.11:45686538:TG:
- Gene:
- WFDC10B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000016/2
(GnomAD)
- HGVS:
13.
rs1491034066 has merged into rs113263985 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA,AAAAAAAAAA
[Show Flanks]
- Chromosome:
- 20:45698977
(GRCh38)
20:44327616
(GRCh37)
- Canonical SPDI:
- NC_000020.11:45698966:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000020.11:45698966:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:45698966:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:45698966:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:45698966:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:45698966:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
- Gene:
- WFDC10B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
A=0.4/16
(GENOME_DK)
- HGVS:
NC_000020.11:g.45698977_45698980del, NC_000020.11:g.45698978_45698980del, NC_000020.11:g.45698979_45698980del, NC_000020.11:g.45698980del, NC_000020.11:g.45698980dup, NC_000020.11:g.45698975_45698980dup, NC_000020.10:g.44327616_44327619del, NC_000020.10:g.44327617_44327619del, NC_000020.10:g.44327618_44327619del, NC_000020.10:g.44327619del, NC_000020.10:g.44327619dup, NC_000020.10:g.44327614_44327619dup
15.
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:
16.
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:
17.
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:
18.
rs1490326408 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 20:45695448
(GRCh38)
20:44324087
(GRCh37)
- Canonical SPDI:
- NC_000020.11:45695447:G:C
- Gene:
- WFDC10B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
19.
rs1490113236 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 20:45688806
(GRCh38)
20:44317445
(GRCh37)
- Canonical SPDI:
- NC_000020.11:45688805:T:C
- Gene:
- WFDC10B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
20.
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: