Links from Gene
Items: 1 to 20 of 405
1.
rs1491055626 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- X:118386022
(GRCh38)
X:117519986
(GRCh37)
- Canonical SPDI:
- NC_000023.11:118386022:T:TT
- Gene:
- WDR44 (Varview), MIR1277 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TT=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
2.
rs1489157012 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- X:118386159
(GRCh38)
X:117520122
(GRCh37)
- Canonical SPDI:
- NC_000023.11:118386158:CC:C
- Gene:
- WDR44 (Varview), MIR1277 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0./0
(
ALFA)
-=0.000039/4
(GnomAD)
-=0.000042/11
(TOPMED)
- HGVS:
3.
rs1486667753 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- X:118385160
(GRCh38)
X:117519123
(GRCh37)
- Canonical SPDI:
- NC_000023.11:118385159:C:A,NC_000023.11:118385159:C:T
- Gene:
- WDR44 (Varview), MIR1277 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000019/2
(GnomAD)
- HGVS:
4.
rs1485802104 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:118386723
(GRCh38)
X:117520686
(GRCh37)
- Canonical SPDI:
- NC_000023.11:118386722:G:A
- Gene:
- WDR44 (Varview), MIR1277 (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000281/3
(
ALFA)
A=0.00001/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
5.
rs1483710589 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:118385730
(GRCh38)
X:117519693
(GRCh37)
- Canonical SPDI:
- NC_000023.11:118385729:G:A
- Gene:
- WDR44 (Varview), MIR1277 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000342/1
(KOREAN)
- HGVS:
6.
rs1482942471 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- X:118386520
(GRCh38)
X:117520483
(GRCh37)
- Canonical SPDI:
- NC_000023.11:118386519:T:G
- Gene:
- WDR44 (Varview), MIR1277 (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency
- MAF:
G=0.000008/1
(GnomAD_exomes)
- HGVS:
7.
rs1478829077 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- X:118385708
(GRCh38)
X:117519671
(GRCh37)
- Canonical SPDI:
- NC_000023.11:118385707:T:G
- Gene:
- WDR44 (Varview), MIR1277 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
8.
rs1478449589 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:118384806
(GRCh38)
X:117518769
(GRCh37)
- Canonical SPDI:
- NC_000023.11:118384805:A:G
- Gene:
- WDR44 (Varview), MIR1277 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.00001/1
(GnomAD)
- HGVS:
9.
rs1477844569 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- X:118386435
(GRCh38)
X:117520398
(GRCh37)
- Canonical SPDI:
- NC_000023.11:118386434:A:T
- Gene:
- WDR44 (Varview), MIR1277 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.00001/1
(GnomAD)
- HGVS:
10.
rs1477466547 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- X:118385600
(GRCh38)
X:117519563
(GRCh37)
- Canonical SPDI:
- NC_000023.11:118385599:C:G
- Gene:
- WDR44 (Varview), MIR1277 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
11.
rs1473793303 has merged into rs370670319 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAA>-,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA
[Show Flanks]
- Chromosome:
- X:118385663
(GRCh38)
X:117519626
(GRCh37)
- Canonical SPDI:
- NC_000023.11:118385657:AAAAAAAAAAA:AAAAA,NC_000023.11:118385657:AAAAAAAAAAA:AAAAAAAAAA,NC_000023.11:118385657:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000023.11:118385657:AAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:118385657:AAAAAAAAAAA:AAAAAAAAAAAAAA
- Gene:
- WDR44 (Varview), MIR1277 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000023.11:g.118385663_118385668del, NC_000023.11:g.118385668del, NC_000023.11:g.118385668dup, NC_000023.11:g.118385667_118385668dup, NC_000023.11:g.118385666_118385668dup, NC_000023.10:g.117519626_117519631del, NC_000023.10:g.117519631del, NC_000023.10:g.117519631dup, NC_000023.10:g.117519630_117519631dup, NC_000023.10:g.117519629_117519631dup, NG_021368.2:g.44591_44596del, NG_021368.2:g.44596del, NG_021368.2:g.44596dup, NG_021368.2:g.44595_44596dup, NG_021368.2:g.44594_44596dup
12.
rs1472008200 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- X:118386238
(GRCh38)
X:117520201
(GRCh37)
- Canonical SPDI:
- NC_000023.11:118386237:T:A,NC_000023.11:118386237:T:C
- Gene:
- WDR44 (Varview), MIR1277 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000026/7
(TOPMED)
C=0.000049/5
(GnomAD)
A=0.000265/1
(1000Genomes)
- HGVS:
13.
rs1467398485 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- X:118384484
(GRCh38)
X:117518447
(GRCh37)
- Canonical SPDI:
- NC_000023.11:118384483:T:A
- Gene:
- WDR44 (Varview), MIR1277 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000019/2
(GnomAD)
A=0.000019/5
(TOPMED)
- HGVS:
14.
rs1466626748 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:118386565
(GRCh38)
X:117520528
(GRCh37)
- Canonical SPDI:
- NC_000023.11:118386564:A:G
- Gene:
- WDR44 (Varview), MIR1277 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.00001/1
(GnomAD)
- HGVS:
15.
rs1466262247 has merged into rs370670319 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAA>-,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA
[Show Flanks]
- Chromosome:
- X:118385663
(GRCh38)
X:117519626
(GRCh37)
- Canonical SPDI:
- NC_000023.11:118385657:AAAAAAAAAAA:AAAAA,NC_000023.11:118385657:AAAAAAAAAAA:AAAAAAAAAA,NC_000023.11:118385657:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000023.11:118385657:AAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:118385657:AAAAAAAAAAA:AAAAAAAAAAAAAA
- Gene:
- WDR44 (Varview), MIR1277 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000023.11:g.118385663_118385668del, NC_000023.11:g.118385668del, NC_000023.11:g.118385668dup, NC_000023.11:g.118385667_118385668dup, NC_000023.11:g.118385666_118385668dup, NC_000023.10:g.117519626_117519631del, NC_000023.10:g.117519631del, NC_000023.10:g.117519631dup, NC_000023.10:g.117519630_117519631dup, NC_000023.10:g.117519629_117519631dup, NG_021368.2:g.44591_44596del, NG_021368.2:g.44596del, NG_021368.2:g.44596dup, NG_021368.2:g.44595_44596dup, NG_021368.2:g.44594_44596dup
16.
rs1462045702 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- X:118385970
(GRCh38)
X:117519934
(GRCh37)
- Canonical SPDI:
- NC_000023.11:118385970:T:TT
- Gene:
- WDR44 (Varview), MIR1277 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
T=0.000042/11
(TOPMED)
T=0.000048/5
(GnomAD)
- HGVS:
17.
rs1457576552 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:118385942
(GRCh38)
X:117519905
(GRCh37)
- Canonical SPDI:
- NC_000023.11:118385941:A:G
- Gene:
- WDR44 (Varview), MIR1277 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.00001/1
(GnomAD)
- HGVS:
18.
rs1456250559 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:118386643
(GRCh38)
X:117520606
(GRCh37)
- Canonical SPDI:
- NC_000023.11:118386642:G:A
- Gene:
- WDR44 (Varview), MIR1277 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000019/2
(GnomAD)
- HGVS:
19.
rs1455182091 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:118386759
(GRCh38)
X:117520722
(GRCh37)
- Canonical SPDI:
- NC_000023.11:118386758:A:G
- Gene:
- WDR44 (Varview), MIR1277 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
G=0.00001/1
(GnomAD)
- HGVS:
20.
rs1454897485 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G,T
[Show Flanks]
- Chromosome:
- X:118386553
(GRCh38)
X:117520516
(GRCh37)
- Canonical SPDI:
- NC_000023.11:118386552:A:C,NC_000023.11:118386552:A:G,NC_000023.11:118386552:A:T
- Gene:
- WDR44 (Varview), MIR1277 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.00001/1
(GnomAD)
C=0.000495/6
(TOMMO)
C=0.000684/2
(KOREAN)
- HGVS: