Links from Gene
Items: 1 to 20 of 30202
2.
rs1491518092 has merged into rs1190126173 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATAT>-,AT,ATATAT
[Show Flanks]
- Chromosome:
- X:118648528
(GRCh38)
X:117782491
(GRCh37)
- Canonical SPDI:
- NC_000023.11:118648519:ATATATATATAT:ATATATAT,NC_000023.11:118648519:ATATATATATAT:ATATATATAT,NC_000023.11:118648519:ATATATATATAT:ATATATATATATAT
- Gene:
- DOCK11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATAT=0./0
(
ALFA)
-=0.000064/17
(TOPMED)
- HGVS:
3.
rs1491490130 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- X:118542520
(GRCh38)
X:117676483
(GRCh37)
- Canonical SPDI:
- NC_000023.11:118542518:TTT:T
- Gene:
- DOCK11 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.00034/4
(
ALFA)
-=0.00262/118
(GnomAD)
- HGVS:
4.
rs1491474881 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- X:118602094
(GRCh38)
X:117736057
(GRCh37)
- Canonical SPDI:
- NC_000023.11:118602093:CT:
- Gene:
- DOCK11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00001/1
(GnomAD)
- HGVS:
5.
rs1491438090 has merged into rs1162244580 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA
[Show Flanks]
- Chromosome:
- X:118619496
(GRCh38)
X:117753459
(GRCh37)
- Canonical SPDI:
- NC_000023.11:118619480:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:118619480:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:118619480:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:118619480:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:118619480:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:118619480:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:118619480:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:118619480:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- DOCK11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000023.11:g.118619496_118619498del, NC_000023.11:g.118619497_118619498del, NC_000023.11:g.118619498del, NC_000023.11:g.118619498dup, NC_000023.11:g.118619497_118619498dup, NC_000023.11:g.118619496_118619498dup, NC_000023.11:g.118619495_118619498dup, NC_000023.11:g.118619494_118619498dup, NC_000023.10:g.117753459_117753461del, NC_000023.10:g.117753460_117753461del, NC_000023.10:g.117753461del, NC_000023.10:g.117753461dup, NC_000023.10:g.117753460_117753461dup, NC_000023.10:g.117753459_117753461dup, NC_000023.10:g.117753458_117753461dup, NC_000023.10:g.117753457_117753461dup
7.
rs1491409828 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CG>-
[Show Flanks]
- Chromosome:
- X:118626257
(GRCh38)
X:117760220
(GRCh37)
- Canonical SPDI:
- NC_000023.11:118626256:CG:
- Gene:
- DOCK11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000084/1
(
ALFA)
-=0.000089/5
(GnomAD)
-=0.000136/36
(TOPMED)
- HGVS:
9.
rs1491386110 has merged into rs67646403 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- X:118629830
(GRCh38)
X:117763793
(GRCh37)
- Canonical SPDI:
- NC_000023.11:118629816:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000023.11:118629816:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000023.11:118629816:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000023.11:118629816:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000023.11:118629816:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000023.11:118629816:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000023.11:118629816:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118629816:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118629816:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118629816:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118629816:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118629816:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118629816:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- DOCK11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.000053/14
(TOPMED)
-=0.014884/43
(ALSPAC)
-=0.021575/80
(TWINSUK)
T=0.438675/1656
(1000Genomes)
- HGVS:
NC_000023.11:g.118629830_118629836del, NC_000023.11:g.118629831_118629836del, NC_000023.11:g.118629833_118629836del, NC_000023.11:g.118629834_118629836del, NC_000023.11:g.118629835_118629836del, NC_000023.11:g.118629836del, NC_000023.11:g.118629836dup, NC_000023.11:g.118629835_118629836dup, NC_000023.11:g.118629834_118629836dup, NC_000023.11:g.118629833_118629836dup, NC_000023.11:g.118629832_118629836dup, NC_000023.11:g.118629831_118629836dup, NC_000023.11:g.118629830_118629836dup, NC_000023.10:g.117763793_117763799del, NC_000023.10:g.117763794_117763799del, NC_000023.10:g.117763796_117763799del, NC_000023.10:g.117763797_117763799del, NC_000023.10:g.117763798_117763799del, NC_000023.10:g.117763799del, NC_000023.10:g.117763799dup, NC_000023.10:g.117763798_117763799dup, NC_000023.10:g.117763797_117763799dup, NC_000023.10:g.117763796_117763799dup, NC_000023.10:g.117763795_117763799dup, NC_000023.10:g.117763794_117763799dup, NC_000023.10:g.117763793_117763799dup
10.
rs1491341653 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ATA,ATATAATATATAATAATATATAATATATTATTATATATAATATATAATAATATATAATATATTATAATA
[Show Flanks]
- Chromosome:
- X:118647971
(GRCh38)
X:117781935
(GRCh37)
- Canonical SPDI:
- NC_000023.11:118647971:ATA:ATAATA,NC_000023.11:118647971:ATA:ATAATATAATATATAATAATATATAATATATTATTATATATAATATATAATAATATATAATATATTATAATA
- Gene:
- DOCK11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
ATAATA=0./0
(
ALFA)
ATAATATAATATATAATAATATATAATATATTATTATATATAATATATAATAATATATAATATATTATA=0.00003/1
(GnomAD)
- HGVS:
11.
rs1491333477 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- X:118629817
(GRCh38)
X:117763781
(GRCh37)
- Canonical SPDI:
- NC_000023.11:118629817::A
- Gene:
- DOCK11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000096/1
(GnomAD)
- HGVS:
14.
rs1491277801 has merged into rs536697143 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- X:118602107
(GRCh38)
X:117736070
(GRCh37)
- Canonical SPDI:
- NC_000023.11:118602094:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000023.11:118602094:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000023.11:118602094:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000023.11:118602094:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000023.11:118602094:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000023.11:118602094:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000023.11:118602094:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000023.11:118602094:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118602094:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118602094:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118602094:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118602094:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- DOCK11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
T=0.2519/951
(1000Genomes)
- HGVS:
NC_000023.11:g.118602107_118602116del, NC_000023.11:g.118602108_118602116del, NC_000023.11:g.118602109_118602116del, NC_000023.11:g.118602110_118602116del, NC_000023.11:g.118602111_118602116del, NC_000023.11:g.118602114_118602116del, NC_000023.11:g.118602115_118602116del, NC_000023.11:g.118602116del, NC_000023.11:g.118602116dup, NC_000023.11:g.118602115_118602116dup, NC_000023.11:g.118602114_118602116dup, NC_000023.11:g.118602113_118602116dup, NC_000023.10:g.117736070_117736079del, NC_000023.10:g.117736071_117736079del, NC_000023.10:g.117736072_117736079del, NC_000023.10:g.117736073_117736079del, NC_000023.10:g.117736074_117736079del, NC_000023.10:g.117736077_117736079del, NC_000023.10:g.117736078_117736079del, NC_000023.10:g.117736079del, NC_000023.10:g.117736079dup, NC_000023.10:g.117736078_117736079dup, NC_000023.10:g.117736077_117736079dup, NC_000023.10:g.117736076_117736079dup
15.
rs1491273741 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTGTGTGTGT,CTGTGTGTGTGTGTGTGT,TGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- X:118549106
(GRCh38)
X:117683070
(GRCh37)
- Canonical SPDI:
- NC_000023.11:118549106:T:TCTGTGTGTGT,NC_000023.11:118549106:T:TCTGTGTGTGTGTGTGTGT,NC_000023.11:118549106:T:TTGTGTGTGTGTGTGT
- Gene:
- DOCK11 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TCTGTGTGTGTGTGTGTGT=0./0
(
ALFA)
- HGVS:
16.
rs1491213335 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TGGGGGGGGG
[Show Flanks]
- Chromosome:
- X:118632970
(GRCh38)
X:117766934
(GRCh37)
- Canonical SPDI:
- NC_000023.11:118632970:GGGGGGGGG:GGGGGGGGGTGGGGGGGGG
- Gene:
- DOCK11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GGGGGGGGGTGGGGGGGGG=0./0
(
ALFA)
- HGVS:
17.
rs1491128381 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- X:118648519
(GRCh38)
X:117782482
(GRCh37)
- Canonical SPDI:
- NC_000023.11:118648518:AA:
- Gene:
- DOCK11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000012/1
(GnomAD)
- HGVS:
19.
rs1491110776 has merged into rs66486569 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GG>-,GGG
[Show Flanks]
- Chromosome:
- X:118626262
(GRCh38)
X:117760225
(GRCh37)
- Canonical SPDI:
- NC_000023.11:118626257:GGGGGG:GGGG,NC_000023.11:118626257:GGGGGG:GGGGGGG
- Gene:
- DOCK11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGG=0.35203/2705
(
ALFA)
G=0.00001/1
(GnomAD)
GG=0.084406/1084
(TOMMO)
GG=0.336733/1271
(1000Genomes)
GG=0.365524/1056
(ALSPAC)
GG=0.395882/104786
(TOPMED)
GG=0.39617/1469
(TWINSUK)
GG=0.45/18
(GENOME_DK)
- HGVS:
20.
rs1491100792 has merged into rs57680469 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGTGTGTGTGTGTG>-,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
[Show Flanks]
- Chromosome:
- X:118549117
(GRCh38)
X:117683080
(GRCh37)
- Canonical SPDI:
- NC_000023.11:118549106:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTG,NC_000023.11:118549106:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG,NC_000023.11:118549106:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTG,NC_000023.11:118549106:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTG,NC_000023.11:118549106:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000023.11:118549106:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000023.11:118549106:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000023.11:118549106:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000023.11:118549106:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000023.11:118549106:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000023.11:118549106:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000023.11:118549106:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000023.11:118549106:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000023.11:118549106:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000023.11:118549106:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000023.11:118549106:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000023.11:118549106:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000023.11:118549106:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000023.11:118549106:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000023.11:118549106:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000023.11:118549106:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
- Gene:
- DOCK11 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGTGTG=0./0
(
ALFA)
- HGVS:
NC_000023.11:g.118549107TG[5], NC_000023.11:g.118549107TG[9], NC_000023.11:g.118549107TG[10], NC_000023.11:g.118549107TG[11], NC_000023.11:g.118549107TG[13], NC_000023.11:g.118549107TG[14], NC_000023.11:g.118549107TG[15], NC_000023.11:g.118549107TG[16], NC_000023.11:g.118549107TG[17], NC_000023.11:g.118549107TG[18], NC_000023.11:g.118549107TG[19], NC_000023.11:g.118549107TG[20], NC_000023.11:g.118549107TG[21], NC_000023.11:g.118549107TG[22], NC_000023.11:g.118549107TG[23], NC_000023.11:g.118549107TG[24], NC_000023.11:g.118549107TG[25], NC_000023.11:g.118549107TG[26], NC_000023.11:g.118549107TG[27], NC_000023.11:g.118549107TG[28], NC_000023.11:g.118549107TG[29], NC_000023.10:g.117683070TG[5], NC_000023.10:g.117683070TG[9], NC_000023.10:g.117683070TG[10], NC_000023.10:g.117683070TG[11], NC_000023.10:g.117683070TG[13], NC_000023.10:g.117683070TG[14], NC_000023.10:g.117683070TG[15], NC_000023.10:g.117683070TG[16], NC_000023.10:g.117683070TG[17], NC_000023.10:g.117683070TG[18], NC_000023.10:g.117683070TG[19], NC_000023.10:g.117683070TG[20], NC_000023.10:g.117683070TG[21], NC_000023.10:g.117683070TG[22], NC_000023.10:g.117683070TG[23], NC_000023.10:g.117683070TG[24], NC_000023.10:g.117683070TG[25], NC_000023.10:g.117683070TG[26], NC_000023.10:g.117683070TG[27], NC_000023.10:g.117683070TG[28], NC_000023.10:g.117683070TG[29]