Links from Gene
Items: 1 to 20 of 1000
1.
rs1491574806 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 4:165093097
(GRCh38)
4:166014249
(GRCh37)
- Canonical SPDI:
- NC_000004.12:165093095:TCT:T
- Gene:
- TMEM192 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.00004/1
(TOMMO)
-=0.00004/3
(GnomAD)
- HGVS:
4.
rs1491485231 has merged into rs398051329 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 4:165085281
(GRCh38)
4:166006433
(GRCh37)
- Canonical SPDI:
- NC_000004.12:165085273:AAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000004.12:165085273:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:165085273:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:165085273:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:165085273:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:165085273:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:165085273:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:165085273:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:165085273:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:165085273:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:165085273:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:165085273:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:165085273:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:165085273:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- TMEM192 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAA=0./0
(
ALFA)
A=0.1877/940
(1000Genomes)
- HGVS:
NC_000004.12:g.165085281_165085293del, NC_000004.12:g.165085286_165085293del, NC_000004.12:g.165085287_165085293del, NC_000004.12:g.165085288_165085293del, NC_000004.12:g.165085289_165085293del, NC_000004.12:g.165085290_165085293del, NC_000004.12:g.165085291_165085293del, NC_000004.12:g.165085292_165085293del, NC_000004.12:g.165085293del, NC_000004.12:g.165085293dup, NC_000004.12:g.165085292_165085293dup, NC_000004.12:g.165085289_165085293dup, NC_000004.12:g.165085293_165085294insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.165085274_165085293A[23]CAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.11:g.166006433_166006445del, NC_000004.11:g.166006438_166006445del, NC_000004.11:g.166006439_166006445del, NC_000004.11:g.166006440_166006445del, NC_000004.11:g.166006441_166006445del, NC_000004.11:g.166006442_166006445del, NC_000004.11:g.166006443_166006445del, NC_000004.11:g.166006444_166006445del, NC_000004.11:g.166006445del, NC_000004.11:g.166006445dup, NC_000004.11:g.166006444_166006445dup, NC_000004.11:g.166006441_166006445dup, NC_000004.11:g.166006445_166006446insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.166006426_166006445A[23]CAAAAAAAAAAAAAAAAAAAAAAAAA[1]
5.
rs1491466245 has merged into rs1160535314 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 4:165099111
(GRCh38)
4:166020263
(GRCh37)
- Canonical SPDI:
- NC_000004.12:165099102:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000004.12:165099102:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000004.12:165099102:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:165099102:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:165099102:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:165099102:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:165099102:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:165099102:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:165099102:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:165099102:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:165099102:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:165099102:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:165099102:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:165099102:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:165099102:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:165099102:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:165099102:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:165099102:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:165099102:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:165099102:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:165099102:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:165099102:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:165099102:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:165099102:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:165099102:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:165099102:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- TMEM192 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000004.12:g.165099111_165099122del, NC_000004.12:g.165099112_165099122del, NC_000004.12:g.165099113_165099122del, NC_000004.12:g.165099114_165099122del, NC_000004.12:g.165099115_165099122del, NC_000004.12:g.165099116_165099122del, NC_000004.12:g.165099119_165099122del, NC_000004.12:g.165099120_165099122del, NC_000004.12:g.165099121_165099122del, NC_000004.12:g.165099122del, NC_000004.12:g.165099122dup, NC_000004.12:g.165099121_165099122dup, NC_000004.12:g.165099120_165099122dup, NC_000004.12:g.165099119_165099122dup, NC_000004.12:g.165099118_165099122dup, NC_000004.12:g.165099117_165099122dup, NC_000004.12:g.165099116_165099122dup, NC_000004.12:g.165099115_165099122dup, NC_000004.12:g.165099114_165099122dup, NC_000004.12:g.165099112_165099122dup, NC_000004.12:g.165099111_165099122dup, NC_000004.12:g.165099110_165099122dup, NC_000004.12:g.165099109_165099122dup, NC_000004.12:g.165099108_165099122dup, NC_000004.12:g.165099107_165099122dup, NC_000004.12:g.165099122_165099123insTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.166020263_166020274del, NC_000004.11:g.166020264_166020274del, NC_000004.11:g.166020265_166020274del, NC_000004.11:g.166020266_166020274del, NC_000004.11:g.166020267_166020274del, NC_000004.11:g.166020268_166020274del, NC_000004.11:g.166020271_166020274del, NC_000004.11:g.166020272_166020274del, NC_000004.11:g.166020273_166020274del, NC_000004.11:g.166020274del, NC_000004.11:g.166020274dup, NC_000004.11:g.166020273_166020274dup, NC_000004.11:g.166020272_166020274dup, NC_000004.11:g.166020271_166020274dup, NC_000004.11:g.166020270_166020274dup, NC_000004.11:g.166020269_166020274dup, NC_000004.11:g.166020268_166020274dup, NC_000004.11:g.166020267_166020274dup, NC_000004.11:g.166020266_166020274dup, NC_000004.11:g.166020264_166020274dup, NC_000004.11:g.166020263_166020274dup, NC_000004.11:g.166020262_166020274dup, NC_000004.11:g.166020261_166020274dup, NC_000004.11:g.166020260_166020274dup, NC_000004.11:g.166020259_166020274dup, NC_000004.11:g.166020274_166020275insTTTTTTTTTTTTTTTTTTTTT
6.
rs1491452603 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 4:165107019
(GRCh38)
4:166028172
(GRCh37)
- Canonical SPDI:
- NC_000004.12:165107019:C:CC
- Gene:
- TMEM192 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0.000071/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000042/11
(TOPMED)
C=0.000248/4
(TOMMO)
C=0.001638/3
(Korea1K)
- HGVS:
7.
rs1491452122 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTTTTTTTT
[Show Flanks]
- Chromosome:
- 4:165092113
(GRCh38)
4:166013266
(GRCh37)
- Canonical SPDI:
- NC_000004.12:165092113:TTTTTTTT:TTTTTTTTCTTTTTTTT
- Gene:
- TMEM192 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
TTTTTTTTC=0.0003/2
(GnomAD)
- HGVS:
8.
rs1491427039 has merged into rs35383218 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 4:165095961
(GRCh38)
4:166017113
(GRCh37)
- Canonical SPDI:
- NC_000004.12:165095950:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:165095950:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:165095950:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:165095950:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:165095950:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:165095950:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:165095950:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:165095950:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:165095950:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:165095950:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- TMEM192 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTT=0./0
(
ALFA)
TTT=0.3652/1829
(1000Genomes)
TTT=0.4488/263
(NorthernSweden)
- HGVS:
NC_000004.12:g.165095961_165095968del, NC_000004.12:g.165095964_165095968del, NC_000004.12:g.165095965_165095968del, NC_000004.12:g.165095966_165095968del, NC_000004.12:g.165095967_165095968del, NC_000004.12:g.165095968del, NC_000004.12:g.165095968dup, NC_000004.12:g.165095967_165095968dup, NC_000004.12:g.165095965_165095968dup, NC_000004.12:g.165095964_165095968dup, NC_000004.11:g.166017113_166017120del, NC_000004.11:g.166017116_166017120del, NC_000004.11:g.166017117_166017120del, NC_000004.11:g.166017118_166017120del, NC_000004.11:g.166017119_166017120del, NC_000004.11:g.166017120del, NC_000004.11:g.166017120dup, NC_000004.11:g.166017119_166017120dup, NC_000004.11:g.166017117_166017120dup, NC_000004.11:g.166017116_166017120dup
10.
rs1491390993 has merged into rs56000323 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 4:165089048
(GRCh38)
4:166010200
(GRCh37)
- Canonical SPDI:
- NC_000004.12:165089040:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000004.12:165089040:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000004.12:165089040:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:165089040:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:165089040:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:165089040:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:165089040:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:165089040:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:165089040:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:165089040:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:165089040:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:165089040:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:165089040:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:165089040:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:165089040:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:165089040:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:165089040:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:165089040:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:165089040:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:165089040:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:165089040:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:165089040:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:165089040:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:165089040:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:165089040:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:165089040:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:165089040:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:165089040:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- TMEM192 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAA=0./0
(
ALFA)
-=0.2845/1425
(1000Genomes)
- HGVS:
NC_000004.12:g.165089048_165089066del, NC_000004.12:g.165089050_165089066del, NC_000004.12:g.165089051_165089066del, NC_000004.12:g.165089052_165089066del, NC_000004.12:g.165089053_165089066del, NC_000004.12:g.165089054_165089066del, NC_000004.12:g.165089055_165089066del, NC_000004.12:g.165089056_165089066del, NC_000004.12:g.165089057_165089066del, NC_000004.12:g.165089058_165089066del, NC_000004.12:g.165089059_165089066del, NC_000004.12:g.165089060_165089066del, NC_000004.12:g.165089061_165089066del, NC_000004.12:g.165089062_165089066del, NC_000004.12:g.165089063_165089066del, NC_000004.12:g.165089064_165089066del, NC_000004.12:g.165089065_165089066del, NC_000004.12:g.165089066del, NC_000004.12:g.165089066dup, NC_000004.12:g.165089065_165089066dup, NC_000004.12:g.165089064_165089066dup, NC_000004.12:g.165089063_165089066dup, NC_000004.12:g.165089062_165089066dup, NC_000004.12:g.165089061_165089066dup, NC_000004.12:g.165089060_165089066dup, NC_000004.12:g.165089059_165089066dup, NC_000004.12:g.165089058_165089066dup, NC_000004.12:g.165089046_165089066dup, NC_000004.11:g.166010200_166010218del, NC_000004.11:g.166010202_166010218del, NC_000004.11:g.166010203_166010218del, NC_000004.11:g.166010204_166010218del, NC_000004.11:g.166010205_166010218del, NC_000004.11:g.166010206_166010218del, NC_000004.11:g.166010207_166010218del, NC_000004.11:g.166010208_166010218del, NC_000004.11:g.166010209_166010218del, NC_000004.11:g.166010210_166010218del, NC_000004.11:g.166010211_166010218del, NC_000004.11:g.166010212_166010218del, NC_000004.11:g.166010213_166010218del, NC_000004.11:g.166010214_166010218del, NC_000004.11:g.166010215_166010218del, NC_000004.11:g.166010216_166010218del, NC_000004.11:g.166010217_166010218del, NC_000004.11:g.166010218del, NC_000004.11:g.166010218dup, NC_000004.11:g.166010217_166010218dup, NC_000004.11:g.166010216_166010218dup, NC_000004.11:g.166010215_166010218dup, NC_000004.11:g.166010214_166010218dup, NC_000004.11:g.166010213_166010218dup, NC_000004.11:g.166010212_166010218dup, NC_000004.11:g.166010211_166010218dup, NC_000004.11:g.166010210_166010218dup, NC_000004.11:g.166010198_166010218dup
11.
rs1491267935 has merged into rs35641833 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 4:165092122
(GRCh38)
4:166013274
(GRCh37)
- Canonical SPDI:
- NC_000004.12:165092112:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000004.12:165092112:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:165092112:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:165092112:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:165092112:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:165092112:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:165092112:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:165092112:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:165092112:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:165092112:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:165092112:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:165092112:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:165092112:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:165092112:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:165092112:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:165092112:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:165092112:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:165092112:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:165092112:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:165092112:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:165092112:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:165092112:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:165092112:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:165092112:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:165092112:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:165092112:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:165092112:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:165092112:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:165092112:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:165092112:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:165092112:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:165092112:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:165092112:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:165092112:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:165092112:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:165092112:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- TMEM192 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000004.12:g.165092122_165092139del, NC_000004.12:g.165092124_165092139del, NC_000004.12:g.165092125_165092139del, NC_000004.12:g.165092126_165092139del, NC_000004.12:g.165092127_165092139del, NC_000004.12:g.165092128_165092139del, NC_000004.12:g.165092129_165092139del, NC_000004.12:g.165092130_165092139del, NC_000004.12:g.165092131_165092139del, NC_000004.12:g.165092132_165092139del, NC_000004.12:g.165092133_165092139del, NC_000004.12:g.165092134_165092139del, NC_000004.12:g.165092135_165092139del, NC_000004.12:g.165092136_165092139del, NC_000004.12:g.165092137_165092139del, NC_000004.12:g.165092138_165092139del, NC_000004.12:g.165092139del, NC_000004.12:g.165092139dup, NC_000004.12:g.165092138_165092139dup, NC_000004.12:g.165092137_165092139dup, NC_000004.12:g.165092136_165092139dup, NC_000004.12:g.165092135_165092139dup, NC_000004.12:g.165092134_165092139dup, NC_000004.12:g.165092133_165092139dup, NC_000004.12:g.165092132_165092139dup, NC_000004.12:g.165092131_165092139dup, NC_000004.12:g.165092130_165092139dup, NC_000004.12:g.165092129_165092139dup, NC_000004.12:g.165092128_165092139dup, NC_000004.12:g.165092127_165092139dup, NC_000004.12:g.165092126_165092139dup, NC_000004.12:g.165092124_165092139dup, NC_000004.12:g.165092122_165092139dup, NC_000004.12:g.165092121_165092139dup, NC_000004.12:g.165092119_165092139dup, NC_000004.12:g.165092117_165092139dup, NC_000004.11:g.166013274_166013291del, NC_000004.11:g.166013276_166013291del, NC_000004.11:g.166013277_166013291del, NC_000004.11:g.166013278_166013291del, NC_000004.11:g.166013279_166013291del, NC_000004.11:g.166013280_166013291del, NC_000004.11:g.166013281_166013291del, NC_000004.11:g.166013282_166013291del, NC_000004.11:g.166013283_166013291del, NC_000004.11:g.166013284_166013291del, NC_000004.11:g.166013285_166013291del, NC_000004.11:g.166013286_166013291del, NC_000004.11:g.166013287_166013291del, NC_000004.11:g.166013288_166013291del, NC_000004.11:g.166013289_166013291del, NC_000004.11:g.166013290_166013291del, NC_000004.11:g.166013291del, NC_000004.11:g.166013291dup, NC_000004.11:g.166013290_166013291dup, NC_000004.11:g.166013289_166013291dup, NC_000004.11:g.166013288_166013291dup, NC_000004.11:g.166013287_166013291dup, NC_000004.11:g.166013286_166013291dup, NC_000004.11:g.166013285_166013291dup, NC_000004.11:g.166013284_166013291dup, NC_000004.11:g.166013283_166013291dup, NC_000004.11:g.166013282_166013291dup, NC_000004.11:g.166013281_166013291dup, NC_000004.11:g.166013280_166013291dup, NC_000004.11:g.166013279_166013291dup, NC_000004.11:g.166013278_166013291dup, NC_000004.11:g.166013276_166013291dup, NC_000004.11:g.166013274_166013291dup, NC_000004.11:g.166013273_166013291dup, NC_000004.11:g.166013271_166013291dup, NC_000004.11:g.166013269_166013291dup
12.
rs1491181578 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 4:165104768
(GRCh38)
4:166025920
(GRCh37)
- Canonical SPDI:
- NC_000004.12:165104766:GTG:G
- Gene:
- TMEM192 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.000021/3
(GnomAD)
- HGVS:
13.
rs1491176125 has merged into rs1188415609 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTCT>-,CT,CTCTCT
[Show Flanks]
- Chromosome:
- 4:165107022
(GRCh38)
4:166028174
(GRCh37)
- Canonical SPDI:
- NC_000004.12:165107018:TCTCTCT:TCT,NC_000004.12:165107018:TCTCTCT:TCTCT,NC_000004.12:165107018:TCTCTCT:TCTCTCTCT
- Gene:
- TMEM192 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCTCT=0./0
(
ALFA)
TC=0.000004/1
(TOPMED)
-=0.000021/3
(GnomAD)
- HGVS:
15.
rs1491094928 has merged into rs11289599 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA,AAAAAAAAAA
[Show Flanks]
- Chromosome:
- 4:165094986
(GRCh38)
4:166016138
(GRCh37)
- Canonical SPDI:
- NC_000004.12:165094974:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:165094974:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:165094974:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:165094974:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:165094974:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:165094974:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
- Gene:
- TMEM192 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
A=0.375/15
(GENOME_DK)
A=0.4038/235
(NorthernSweden)
- HGVS:
NC_000004.12:g.165094986_165094988del, NC_000004.12:g.165094987_165094988del, NC_000004.12:g.165094988del, NC_000004.12:g.165094988dup, NC_000004.12:g.165094987_165094988dup, NC_000004.12:g.165094982_165094988dup, NC_000004.11:g.166016138_166016140del, NC_000004.11:g.166016139_166016140del, NC_000004.11:g.166016140del, NC_000004.11:g.166016140dup, NC_000004.11:g.166016139_166016140dup, NC_000004.11:g.166016134_166016140dup
16.
rs1491012163 has merged into rs70952701 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTT>-,TT,TTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 4:165103522
(GRCh38)
4:166024674
(GRCh37)
- Canonical SPDI:
- NC_000004.12:165103511:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:165103511:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:165103511:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:165103511:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:165103511:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:165103511:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:165103511:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:165103511:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:165103511:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:165103511:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:165103511:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:165103511:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:165103511:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:165103511:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:165103511:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:165103511:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- TMEM192 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000004.12:g.165103522_165103531del, NC_000004.12:g.165103524_165103531del, NC_000004.12:g.165103525_165103531del, NC_000004.12:g.165103527_165103531del, NC_000004.12:g.165103529_165103531del, NC_000004.12:g.165103530_165103531del, NC_000004.12:g.165103531del, NC_000004.12:g.165103531dup, NC_000004.12:g.165103530_165103531dup, NC_000004.12:g.165103529_165103531dup, NC_000004.12:g.165103528_165103531dup, NC_000004.12:g.165103527_165103531dup, NC_000004.12:g.165103526_165103531dup, NC_000004.12:g.165103525_165103531dup, NC_000004.12:g.165103524_165103531dup, NC_000004.12:g.165103520_165103531dup, NC_000004.11:g.166024674_166024683del, NC_000004.11:g.166024676_166024683del, NC_000004.11:g.166024677_166024683del, NC_000004.11:g.166024679_166024683del, NC_000004.11:g.166024681_166024683del, NC_000004.11:g.166024682_166024683del, NC_000004.11:g.166024683del, NC_000004.11:g.166024683dup, NC_000004.11:g.166024682_166024683dup, NC_000004.11:g.166024681_166024683dup, NC_000004.11:g.166024680_166024683dup, NC_000004.11:g.166024679_166024683dup, NC_000004.11:g.166024678_166024683dup, NC_000004.11:g.166024677_166024683dup, NC_000004.11:g.166024676_166024683dup, NC_000004.11:g.166024672_166024683dup
17.
rs1490832622 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 4:165087363
(GRCh38)
4:166008515
(GRCh37)
- Canonical SPDI:
- NC_000004.12:165087360:AAAA:AA
- Gene:
- TMEM192 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAA=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
18.
rs1490823771 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:165081642
(GRCh38)
4:166002794
(GRCh37)
- Canonical SPDI:
- NC_000004.12:165081641:C:T
- Gene:
- TMEM192 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00014/5
(GnomAD)
T=0.00063/1
(TOMMO)
- HGVS:
19.
rs1490818343 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:165085188
(GRCh38)
4:166006340
(GRCh37)
- Canonical SPDI:
- NC_000004.12:165085187:G:A
- Gene:
- TMEM192 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000378/7
(
ALFA)
A=0.000049/13
(TOPMED)
A=0.000115/16
(GnomAD)
A=0.001116/5
(Estonian)
- HGVS:
20.
rs1490815941 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:165086384
(GRCh38)
4:166007536
(GRCh37)
- Canonical SPDI:
- NC_000004.12:165086383:A:G
- Gene:
- TMEM192 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000022/3
(GnomAD)
G=0.000023/6
(TOPMED)
- HGVS: