Links from Gene
Items: 1 to 20 of 11838
1.
rs1491589455 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TTCCATAAT
[Show Flanks]
- Chromosome:
- X:140723796
(GRCh38)
X:139805962
(GRCh37)
- Canonical SPDI:
- NC_000023.11:140723796::TTCCATAAT
- Gene:
- LINC00632 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TTCCATAAT=0.00008/1
(
ALFA)
- HGVS:
2.
rs1491573622 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AA
[Show Flanks]
- Chromosome:
- X:140768651
(GRCh38)
X:139850817
(GRCh37)
- Canonical SPDI:
- NC_000023.11:140768651:A:AAA
- Gene:
- LINC00632 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency
- MAF:
AA=0.00022/7
(GnomAD)
- HGVS:
3.
rs1491561020 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GC>-
[Show Flanks]
- Chromosome:
- X:140723827
(GRCh38)
X:139805992
(GRCh37)
- Canonical SPDI:
- NC_000023.11:140723826:GC:
- Gene:
- LINC00632 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00049/8
(TOMMO)
-=0.00083/4
(1000Genomes)
-=0.00216/4
(GnomAD)
- HGVS:
4.
rs1491546322 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GG
[Show Flanks]
- Chromosome:
- X:140762210
(GRCh38)
X:139844376
(GRCh37)
- Canonical SPDI:
- NC_000023.11:140762210:G:GGG
- Gene:
- LINC00632 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency
- MAF:
GG=0.00025/4
(GnomAD)
- HGVS:
6.
rs1491535490 has merged into rs1188901479 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTTTCTTTCTTT>-,CTTT,CTTTCTTT,CTTTCTTTCTTTCTTT,CTTTCTTTCTTTCTTTCTTT
[Show Flanks]
- Chromosome:
- X:140759357
(GRCh38)
X:139841522
(GRCh37)
- Canonical SPDI:
- NC_000023.11:140759344:CTTTCTTTCTTTCTTTCTTTCTTT:CTTTCTTTCTTT,NC_000023.11:140759344:CTTTCTTTCTTTCTTTCTTTCTTT:CTTTCTTTCTTTCTTT,NC_000023.11:140759344:CTTTCTTTCTTTCTTTCTTTCTTT:CTTTCTTTCTTTCTTTCTTT,NC_000023.11:140759344:CTTTCTTTCTTTCTTTCTTTCTTT:CTTTCTTTCTTTCTTTCTTTCTTTCTTT,NC_000023.11:140759344:CTTTCTTTCTTTCTTTCTTTCTTT:CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT
- Gene:
- LINC00632 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTTTCTTTCTTTCTTT=0./0
(
ALFA)
- HGVS:
7.
rs1491503974 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CC,GC
[Show Flanks]
- Chromosome:
- X:140725203
(GRCh38)
X:139807369
(GRCh37)
- Canonical SPDI:
- NC_000023.11:140725203:C:CCC,NC_000023.11:140725203:C:CGC
- Gene:
- LINC00632 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
CGC=0./0
(
ALFA)
CC=0.00001/1
(GnomAD)
- HGVS:
9.
rs1491493961 has merged into rs752596283 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- X:140753781
(GRCh38)
X:139835946
(GRCh37)
- Canonical SPDI:
- NC_000023.11:140753768:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000023.11:140753768:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000023.11:140753768:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000023.11:140753768:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000023.11:140753768:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000023.11:140753768:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000023.11:140753768:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000023.11:140753768:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000023.11:140753768:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000023.11:140753768:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000023.11:140753768:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:140753768:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:140753768:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:140753768:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:140753768:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:140753768:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:140753768:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:140753768:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:140753768:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:140753768:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:140753768:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:140753768:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:140753768:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:140753768:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:140753768:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:140753768:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:140753768:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:140753768:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:140753768:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:140753768:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:140753768:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:140753768:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:140753768:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:140753768:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:140753768:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:140753768:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:140753768:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:140753768:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:140753768:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LINC00632 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
-=0.4/16
(GENOME_DK)
- HGVS:
NC_000023.11:g.140753781_140753793del, NC_000023.11:g.140753782_140753793del, NC_000023.11:g.140753783_140753793del, NC_000023.11:g.140753784_140753793del, NC_000023.11:g.140753785_140753793del, NC_000023.11:g.140753786_140753793del, NC_000023.11:g.140753787_140753793del, NC_000023.11:g.140753788_140753793del, NC_000023.11:g.140753789_140753793del, NC_000023.11:g.140753790_140753793del, NC_000023.11:g.140753791_140753793del, NC_000023.11:g.140753792_140753793del, NC_000023.11:g.140753793del, NC_000023.11:g.140753793dup, NC_000023.11:g.140753792_140753793dup, NC_000023.11:g.140753791_140753793dup, NC_000023.11:g.140753790_140753793dup, NC_000023.11:g.140753789_140753793dup, NC_000023.11:g.140753788_140753793dup, NC_000023.11:g.140753787_140753793dup, NC_000023.11:g.140753786_140753793dup, NC_000023.11:g.140753785_140753793dup, NC_000023.11:g.140753783_140753793dup, NC_000023.11:g.140753781_140753793dup, NC_000023.11:g.140753780_140753793dup, NC_000023.11:g.140753779_140753793dup, NC_000023.11:g.140753778_140753793dup, NC_000023.11:g.140753776_140753793dup, NC_000023.11:g.140753775_140753793dup, NC_000023.11:g.140753774_140753793dup, NC_000023.11:g.140753773_140753793dup, NC_000023.11:g.140753771_140753793dup, NC_000023.11:g.140753770_140753793dup, NC_000023.11:g.140753769_140753793dup, NC_000023.11:g.140753793_140753794insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.11:g.140753793_140753794insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.11:g.140753793_140753794insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.11:g.140753793_140753794insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.11:g.140753793_140753794insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.10:g.139835946_139835958del, NC_000023.10:g.139835947_139835958del, NC_000023.10:g.139835948_139835958del, NC_000023.10:g.139835949_139835958del, NC_000023.10:g.139835950_139835958del, NC_000023.10:g.139835951_139835958del, NC_000023.10:g.139835952_139835958del, NC_000023.10:g.139835953_139835958del, NC_000023.10:g.139835954_139835958del, NC_000023.10:g.139835955_139835958del, NC_000023.10:g.139835956_139835958del, NC_000023.10:g.139835957_139835958del, NC_000023.10:g.139835958del, NC_000023.10:g.139835958dup, NC_000023.10:g.139835957_139835958dup, NC_000023.10:g.139835956_139835958dup, NC_000023.10:g.139835955_139835958dup, NC_000023.10:g.139835954_139835958dup, NC_000023.10:g.139835953_139835958dup, NC_000023.10:g.139835952_139835958dup, NC_000023.10:g.139835951_139835958dup, NC_000023.10:g.139835950_139835958dup, NC_000023.10:g.139835948_139835958dup, NC_000023.10:g.139835946_139835958dup, NC_000023.10:g.139835945_139835958dup, NC_000023.10:g.139835944_139835958dup, NC_000023.10:g.139835943_139835958dup, NC_000023.10:g.139835941_139835958dup, NC_000023.10:g.139835940_139835958dup, NC_000023.10:g.139835939_139835958dup, NC_000023.10:g.139835938_139835958dup, NC_000023.10:g.139835936_139835958dup, NC_000023.10:g.139835935_139835958dup, NC_000023.10:g.139835934_139835958dup, NC_000023.10:g.139835958_139835959insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.10:g.139835958_139835959insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.10:g.139835958_139835959insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.10:g.139835958_139835959insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.10:g.139835958_139835959insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
10.
rs1491430521 has merged into rs1320194053 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATAT>-,AT,ATATAT
[Show Flanks]
- Chromosome:
- X:140748901
(GRCh38)
X:139831066
(GRCh37)
- Canonical SPDI:
- NC_000023.11:140748894:ATATATATAT:ATATAT,NC_000023.11:140748894:ATATATATAT:ATATATAT,NC_000023.11:140748894:ATATATATAT:ATATATATATAT
- Gene:
- LINC00632 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATAT=0./0
(
ALFA)
-=0.00023/3
(TOMMO)
- HGVS:
11.
rs1491426462 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- X:140748895
(GRCh38)
X:139831061
(GRCh37)
- Canonical SPDI:
- NC_000023.11:140748895:T:TT
- Gene:
- LINC00632 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
T=0.00008/8
(GnomAD)
- HGVS:
13.
rs1491401525 has merged into rs1329087464 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACA>-,CA,CACACA
[Show Flanks]
- Chromosome:
- X:140723836
(GRCh38)
X:139806001
(GRCh37)
- Canonical SPDI:
- NC_000023.11:140723827:CACACACACACA:CACACACA,NC_000023.11:140723827:CACACACACACA:CACACACACA,NC_000023.11:140723827:CACACACACACA:CACACACACACACA
- Gene:
- LINC00632 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACACACACA=0./0
(
ALFA)
-=0.00016/2
(TOMMO)
- HGVS:
16.
rs1491387214 has merged into rs35668777 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- X:140758382
(GRCh38)
X:139840547
(GRCh37)
- Canonical SPDI:
- NC_000023.11:140758372:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000023.11:140758372:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000023.11:140758372:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000023.11:140758372:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000023.11:140758372:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000023.11:140758372:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000023.11:140758372:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000023.11:140758372:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000023.11:140758372:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000023.11:140758372:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000023.11:140758372:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000023.11:140758372:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:140758372:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:140758372:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:140758372:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LINC00632 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTT=0./0
(
ALFA)
TT=0.3256/1229
(1000Genomes)
- HGVS:
NC_000023.11:g.140758382_140758392del, NC_000023.11:g.140758383_140758392del, NC_000023.11:g.140758384_140758392del, NC_000023.11:g.140758385_140758392del, NC_000023.11:g.140758386_140758392del, NC_000023.11:g.140758387_140758392del, NC_000023.11:g.140758389_140758392del, NC_000023.11:g.140758390_140758392del, NC_000023.11:g.140758391_140758392del, NC_000023.11:g.140758392del, NC_000023.11:g.140758392dup, NC_000023.11:g.140758391_140758392dup, NC_000023.11:g.140758388_140758392dup, NC_000023.11:g.140758392_140758393insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.11:g.140758392_140758393insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.10:g.139840547_139840557del, NC_000023.10:g.139840548_139840557del, NC_000023.10:g.139840549_139840557del, NC_000023.10:g.139840550_139840557del, NC_000023.10:g.139840551_139840557del, NC_000023.10:g.139840552_139840557del, NC_000023.10:g.139840554_139840557del, NC_000023.10:g.139840555_139840557del, NC_000023.10:g.139840556_139840557del, NC_000023.10:g.139840557del, NC_000023.10:g.139840557dup, NC_000023.10:g.139840556_139840557dup, NC_000023.10:g.139840553_139840557dup, NC_000023.10:g.139840557_139840558insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.10:g.139840557_139840558insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
17.
rs1491381733 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- X:140768657
(GRCh38)
X:139850822
(GRCh37)
- Canonical SPDI:
- NC_000023.11:140768650:TATATATA:TATATA
- Gene:
- LINC00632 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TATATA=0./0
(
ALFA)
-=0.00006/2
(GnomAD)
- HGVS:
18.
rs1491359899 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CC>-
[Show Flanks]
- Chromosome:
- X:140759344
(GRCh38)
X:139841509
(GRCh37)
- Canonical SPDI:
- NC_000023.11:140759343:CC:
- Gene:
- LINC00632 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000019/5
(TOPMED)
-=0.000022/1
(GnomAD)
- HGVS:
19.
rs1491349295 has merged into rs544905273 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- X:140714831
(GRCh38)
X:139796996
(GRCh37)
- Canonical SPDI:
- NC_000023.11:140714829:ATA:A
- Gene:
- LINC00632 (Varview)
- Functional Consequence:
- downstream_transcript_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.10782/1279
(
ALFA)
-=0.05/2
(GENOME_DK)
-=0.13409/1526
(TOMMO)
-=0.14399/416
(ALSPAC)
-=0.14833/550
(TWINSUK)
-=0.23509/12191
(GnomAD)
- HGVS:
20.
rs1491348464 has merged into rs1207034823 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTT>-,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- X:140729881
(GRCh38)
X:139812046
(GRCh37)
- Canonical SPDI:
- NC_000023.11:140729877:TTTTTTTTTTTTTTTTTT:TTT,NC_000023.11:140729877:TTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000023.11:140729877:TTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000023.11:140729877:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000023.11:140729877:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000023.11:140729877:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000023.11:140729877:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000023.11:140729877:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000023.11:140729877:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000023.11:140729877:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000023.11:140729877:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000023.11:140729877:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:140729877:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:140729877:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:140729877:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:140729877:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:140729877:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:140729877:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:140729877:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LINC00632 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000023.11:g.140729881_140729895del, NC_000023.11:g.140729885_140729895del, NC_000023.11:g.140729887_140729895del, NC_000023.11:g.140729888_140729895del, NC_000023.11:g.140729889_140729895del, NC_000023.11:g.140729892_140729895del, NC_000023.11:g.140729894_140729895del, NC_000023.11:g.140729895del, NC_000023.11:g.140729895dup, NC_000023.11:g.140729894_140729895dup, NC_000023.11:g.140729893_140729895dup, NC_000023.11:g.140729891_140729895dup, NC_000023.11:g.140729890_140729895dup, NC_000023.11:g.140729889_140729895dup, NC_000023.11:g.140729888_140729895dup, NC_000023.11:g.140729887_140729895dup, NC_000023.11:g.140729886_140729895dup, NC_000023.11:g.140729884_140729895dup, NC_000023.11:g.140729883_140729895dup, NC_000023.10:g.139812046_139812060del, NC_000023.10:g.139812050_139812060del, NC_000023.10:g.139812052_139812060del, NC_000023.10:g.139812053_139812060del, NC_000023.10:g.139812054_139812060del, NC_000023.10:g.139812057_139812060del, NC_000023.10:g.139812059_139812060del, NC_000023.10:g.139812060del, NC_000023.10:g.139812060dup, NC_000023.10:g.139812059_139812060dup, NC_000023.10:g.139812058_139812060dup, NC_000023.10:g.139812056_139812060dup, NC_000023.10:g.139812055_139812060dup, NC_000023.10:g.139812054_139812060dup, NC_000023.10:g.139812053_139812060dup, NC_000023.10:g.139812052_139812060dup, NC_000023.10:g.139812051_139812060dup, NC_000023.10:g.139812049_139812060dup, NC_000023.10:g.139812048_139812060dup