Links from Gene
Items: 1 to 20 of 7158
1.
rs1491514195 has merged into rs781136385 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 4:139642305
(GRCh38)
4:140563459
(GRCh37)
- Canonical SPDI:
- NC_000004.12:139642295:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000004.12:139642295:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:139642295:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:139642295:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:139642295:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:139642295:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:139642295:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:139642295:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:139642295:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:139642295:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:139642295:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:139642295:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:139642295:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:139642295:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:139642295:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:139642295:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:139642295:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:139642295:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:139642295:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:139642295:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:139642295:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:139642295:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:139642295:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- QKILA (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000004.12:g.139642305_139642316del, NC_000004.12:g.139642307_139642316del, NC_000004.12:g.139642308_139642316del, NC_000004.12:g.139642309_139642316del, NC_000004.12:g.139642311_139642316del, NC_000004.12:g.139642312_139642316del, NC_000004.12:g.139642313_139642316del, NC_000004.12:g.139642314_139642316del, NC_000004.12:g.139642315_139642316del, NC_000004.12:g.139642316del, NC_000004.12:g.139642316dup, NC_000004.12:g.139642315_139642316dup, NC_000004.12:g.139642314_139642316dup, NC_000004.12:g.139642313_139642316dup, NC_000004.12:g.139642312_139642316dup, NC_000004.12:g.139642311_139642316dup, NC_000004.12:g.139642310_139642316dup, NC_000004.12:g.139642309_139642316dup, NC_000004.12:g.139642308_139642316dup, NC_000004.12:g.139642307_139642316dup, NC_000004.12:g.139642304_139642316dup, NC_000004.12:g.139642301_139642316dup, NC_000004.12:g.139642296_139642316dup, NC_000004.11:g.140563459_140563470del, NC_000004.11:g.140563461_140563470del, NC_000004.11:g.140563462_140563470del, NC_000004.11:g.140563463_140563470del, NC_000004.11:g.140563465_140563470del, NC_000004.11:g.140563466_140563470del, NC_000004.11:g.140563467_140563470del, NC_000004.11:g.140563468_140563470del, NC_000004.11:g.140563469_140563470del, NC_000004.11:g.140563470del, NC_000004.11:g.140563470dup, NC_000004.11:g.140563469_140563470dup, NC_000004.11:g.140563468_140563470dup, NC_000004.11:g.140563467_140563470dup, NC_000004.11:g.140563466_140563470dup, NC_000004.11:g.140563465_140563470dup, NC_000004.11:g.140563464_140563470dup, NC_000004.11:g.140563463_140563470dup, NC_000004.11:g.140563462_140563470dup, NC_000004.11:g.140563461_140563470dup, NC_000004.11:g.140563458_140563470dup, NC_000004.11:g.140563455_140563470dup, NC_000004.11:g.140563450_140563470dup
5.
rs1491405047 has merged into rs70943433 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AATAATAATAATAAT>-,AAT,AATAAT,AATAATAAT,AATAATAATAAT,AATAATAATAATAATAAT,AATAATAATAATAATAATAAT
[Show Flanks]
- Chromosome:
- 4:139619544
(GRCh38)
4:140540698
(GRCh37)
- Canonical SPDI:
- NC_000004.12:139619528:AATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAAT,NC_000004.12:139619528:AATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAATAAT,NC_000004.12:139619528:AATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAATAATAAT,NC_000004.12:139619528:AATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAATAATAATAAT,NC_000004.12:139619528:AATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAATAATAATAATAAT,NC_000004.12:139619528:AATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAATAATAATAATAATAATAAT,NC_000004.12:139619528:AATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAATAATAATAATAATAATAATAAT
- Gene:
- QKILA (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AATAATAATAATAATAAT=0./0
(
ALFA)
- HGVS:
NC_000004.12:g.139619529AAT[5], NC_000004.12:g.139619529AAT[6], NC_000004.12:g.139619529AAT[7], NC_000004.12:g.139619529AAT[8], NC_000004.12:g.139619529AAT[9], NC_000004.12:g.139619529AAT[11], NC_000004.12:g.139619529AAT[12], NC_000004.11:g.140540683AAT[5], NC_000004.11:g.140540683AAT[6], NC_000004.11:g.140540683AAT[7], NC_000004.11:g.140540683AAT[8], NC_000004.11:g.140540683AAT[9], NC_000004.11:g.140540683AAT[11], NC_000004.11:g.140540683AAT[12]
6.
rs1491108671 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 4:139621778
(GRCh38)
4:140542932
(GRCh37)
- Canonical SPDI:
- NC_000004.12:139621775:TTTT:TT
- Gene:
- QKILA (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTT=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000019/5
(TOPMED)
- HGVS:
7.
rs1491079729 has merged into rs150061523 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAA>-,A,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 4:139641947
(GRCh38)
4:140563101
(GRCh37)
- Canonical SPDI:
- NC_000004.12:139641938:AAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000004.12:139641938:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000004.12:139641938:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:139641938:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:139641938:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:139641938:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:139641938:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:139641938:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:139641938:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:139641938:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:139641938:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:139641938:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:139641938:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- QKILA (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0./0
(
ALFA)
-=0.3502/1754
(1000Genomes)
- HGVS:
NC_000004.12:g.139641947_139641957del, NC_000004.12:g.139641948_139641957del, NC_000004.12:g.139641952_139641957del, NC_000004.12:g.139641953_139641957del, NC_000004.12:g.139641954_139641957del, NC_000004.12:g.139641955_139641957del, NC_000004.12:g.139641956_139641957del, NC_000004.12:g.139641957del, NC_000004.12:g.139641957dup, NC_000004.12:g.139641956_139641957dup, NC_000004.12:g.139641955_139641957dup, NC_000004.12:g.139641954_139641957dup, NC_000004.12:g.139641953_139641957dup, NC_000004.11:g.140563101_140563111del, NC_000004.11:g.140563102_140563111del, NC_000004.11:g.140563106_140563111del, NC_000004.11:g.140563107_140563111del, NC_000004.11:g.140563108_140563111del, NC_000004.11:g.140563109_140563111del, NC_000004.11:g.140563110_140563111del, NC_000004.11:g.140563111del, NC_000004.11:g.140563111dup, NC_000004.11:g.140563110_140563111dup, NC_000004.11:g.140563109_140563111dup, NC_000004.11:g.140563108_140563111dup, NC_000004.11:g.140563107_140563111dup
8.
rs1490748116 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:139640430
(GRCh38)
4:140561584
(GRCh37)
- Canonical SPDI:
- NC_000004.12:139640429:A:G
- Gene:
- QKILA (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000066/1
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000223/1
(Estonian)
- HGVS:
9.
rs1490720006 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 4:139635994
(GRCh38)
4:140557148
(GRCh37)
- Canonical SPDI:
- NC_000004.12:139635993:A:G,NC_000004.12:139635993:A:T
- Gene:
- QKILA (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
G=0.000035/1
(TOMMO)
- HGVS:
10.
rs1490697221 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:139621557
(GRCh38)
4:140542711
(GRCh37)
- Canonical SPDI:
- NC_000004.12:139621556:A:G
- Gene:
- QKILA (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
11.
rs1490584690 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 4:139641282
(GRCh38)
4:140562436
(GRCh37)
- Canonical SPDI:
- NC_000004.12:139641281:T:G
- Gene:
- QKILA (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
12.
rs1490491132 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TTTTT
[Show Flanks]
- Chromosome:
- 4:139627493
(GRCh38)
4:140548648
(GRCh37)
- Canonical SPDI:
- NC_000004.12:139627493:T:TTTTTT
- Gene:
- QKILA (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TTTTTT=0.0004/2
(
ALFA)
TTTTT=0.0004/2
(Estonian)
- HGVS:
14.
rs1490158373 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 4:139629981
(GRCh38)
4:140551135
(GRCh37)
- Canonical SPDI:
- NC_000004.12:139629980:C:A
- Gene:
- QKILA (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
15.
rs1490053163 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:139626482
(GRCh38)
4:140547636
(GRCh37)
- Canonical SPDI:
- NC_000004.12:139626481:A:G
- Gene:
- QKILA (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
16.
rs1489908252 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->CC
[Show Flanks]
- Chromosome:
- 4:139623151
(GRCh38)
4:140544306
(GRCh37)
- Canonical SPDI:
- NC_000004.12:139623151::CC
- Gene:
- QKILA (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CC=0./0
(
ALFA)
CC=0.000043/6
(GnomAD)
- HGVS:
17.
rs1489883216 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:139621972
(GRCh38)
4:140543126
(GRCh37)
- Canonical SPDI:
- NC_000004.12:139621971:C:T
- Gene:
- QKILA (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000019/5
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
18.
rs1489720741 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:139642160
(GRCh38)
4:140563314
(GRCh37)
- Canonical SPDI:
- NC_000004.12:139642159:C:T
- Gene:
- QKILA (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000029/4
(GnomAD)
- HGVS:
19.
rs1489618789 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:139644037
(GRCh38)
4:140565191
(GRCh37)
- Canonical SPDI:
- NC_000004.12:139644036:A:G
- Gene:
- QKILA (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0.0027/5
(Korea1K)
- HGVS: