Links from Gene
Items: 1 to 20 of 1000
1.
rs1491434381 has merged into rs35990460 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GG>-,G,GGG,GGGG,GGGGG
[Show Flanks]
- Chromosome:
- 4:122414285
(GRCh38)
4:123335440
(GRCh37)
- Canonical SPDI:
- NC_000004.12:122414275:GGGGGGGGGGG:GGGGGGGGG,NC_000004.12:122414275:GGGGGGGGGGG:GGGGGGGGGG,NC_000004.12:122414275:GGGGGGGGGGG:GGGGGGGGGGGG,NC_000004.12:122414275:GGGGGGGGGGG:GGGGGGGGGGGGG,NC_000004.12:122414275:GGGGGGGGGGG:GGGGGGGGGGGGGG
- Gene:
- ADAD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
2.
rs1491288602 has merged into rs10713074 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTT>-,T,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 4:122422133
(GRCh38)
4:123343288
(GRCh37)
- Canonical SPDI:
- NC_000004.12:122422121:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:122422121:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:122422121:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:122422121:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:122422121:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:122422121:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:122422121:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:122422121:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:122422121:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:122422121:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:122422121:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:122422121:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:122422121:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:122422121:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ADAD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
-=0.4716/2362
(1000Genomes)
-=0.4813/1855
(ALSPAC)
-=0.4914/1822
(TWINSUK)
- HGVS:
NC_000004.12:g.122422133_122422142del, NC_000004.12:g.122422134_122422142del, NC_000004.12:g.122422138_122422142del, NC_000004.12:g.122422139_122422142del, NC_000004.12:g.122422140_122422142del, NC_000004.12:g.122422141_122422142del, NC_000004.12:g.122422142del, NC_000004.12:g.122422142dup, NC_000004.12:g.122422141_122422142dup, NC_000004.12:g.122422140_122422142dup, NC_000004.12:g.122422139_122422142dup, NC_000004.12:g.122422138_122422142dup, NC_000004.12:g.122422132_122422142dup, NC_000004.12:g.122422142_122422143insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.123343288_123343297del, NC_000004.11:g.123343289_123343297del, NC_000004.11:g.123343293_123343297del, NC_000004.11:g.123343294_123343297del, NC_000004.11:g.123343295_123343297del, NC_000004.11:g.123343296_123343297del, NC_000004.11:g.123343297del, NC_000004.11:g.123343297dup, NC_000004.11:g.123343296_123343297dup, NC_000004.11:g.123343295_123343297dup, NC_000004.11:g.123343294_123343297dup, NC_000004.11:g.123343293_123343297dup, NC_000004.11:g.123343287_123343297dup, NC_000004.11:g.123343297_123343298insTTTTTTTTTTTTTTTTTTTTTTTT
3.
rs1491271202 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-,GTGT
[Show Flanks]
- Chromosome:
- 4:122381862
(GRCh38)
4:123303017
(GRCh37)
- Canonical SPDI:
- NC_000004.12:122381852:TGTGTGTGTGT:TGTGTGTGT,NC_000004.12:122381852:TGTGTGTGTGT:TGTGTGTGTGTGT
- Gene:
- ADAD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGT=0./0
(
ALFA)
TG=0.000007/1
(GnomAD)
-=0.000312/2
(1000Genomes)
- HGVS:
4.
rs1491251294 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 4:122381852
(GRCh38)
4:123303007
(GRCh37)
- Canonical SPDI:
- NC_000004.12:122381851:AT:
- Gene:
- ADAD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000036/5
(GnomAD)
-=0.000142/2
(TOMMO)
- HGVS:
5.
rs1491155535 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GTAT
[Show Flanks]
- Chromosome:
- 4:122413852
(GRCh38)
4:123335008
(GRCh37)
- Canonical SPDI:
- NC_000004.12:122413852:TAT:TATGTAT
- Gene:
- ADAD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TATGTAT=0./0
(
ALFA)
TATG=0./0
(GnomAD)
- HGVS:
6.
rs1491086228 has merged into rs145100591 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 4:122399751
(GRCh38)
4:123320906
(GRCh37)
- Canonical SPDI:
- NC_000004.12:122399740:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:122399740:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:122399740:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:122399740:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:122399740:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:122399740:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:122399740:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:122399740:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:122399740:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:122399740:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:122399740:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:122399740:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:122399740:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:122399740:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:122399740:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:122399740:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:122399740:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:122399740:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:122399740:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:122399740:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:122399740:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:122399740:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ADAD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000004.12:g.122399751_122399758del, NC_000004.12:g.122399753_122399758del, NC_000004.12:g.122399754_122399758del, NC_000004.12:g.122399755_122399758del, NC_000004.12:g.122399756_122399758del, NC_000004.12:g.122399757_122399758del, NC_000004.12:g.122399758del, NC_000004.12:g.122399758dup, NC_000004.12:g.122399757_122399758dup, NC_000004.12:g.122399756_122399758dup, NC_000004.12:g.122399755_122399758dup, NC_000004.12:g.122399754_122399758dup, NC_000004.12:g.122399753_122399758dup, NC_000004.12:g.122399752_122399758dup, NC_000004.12:g.122399751_122399758dup, NC_000004.12:g.122399750_122399758dup, NC_000004.12:g.122399749_122399758dup, NC_000004.12:g.122399748_122399758dup, NC_000004.12:g.122399747_122399758dup, NC_000004.12:g.122399746_122399758dup, NC_000004.12:g.122399745_122399758dup, NC_000004.12:g.122399743_122399758dup, NC_000004.11:g.123320906_123320913del, NC_000004.11:g.123320908_123320913del, NC_000004.11:g.123320909_123320913del, NC_000004.11:g.123320910_123320913del, NC_000004.11:g.123320911_123320913del, NC_000004.11:g.123320912_123320913del, NC_000004.11:g.123320913del, NC_000004.11:g.123320913dup, NC_000004.11:g.123320912_123320913dup, NC_000004.11:g.123320911_123320913dup, NC_000004.11:g.123320910_123320913dup, NC_000004.11:g.123320909_123320913dup, NC_000004.11:g.123320908_123320913dup, NC_000004.11:g.123320907_123320913dup, NC_000004.11:g.123320906_123320913dup, NC_000004.11:g.123320905_123320913dup, NC_000004.11:g.123320904_123320913dup, NC_000004.11:g.123320903_123320913dup, NC_000004.11:g.123320902_123320913dup, NC_000004.11:g.123320901_123320913dup, NC_000004.11:g.123320900_123320913dup, NC_000004.11:g.123320898_123320913dup
7.
rs1491047006 has merged into rs59864757 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 4:122427537
(GRCh38)
4:123348692
(GRCh37)
- Canonical SPDI:
- NC_000004.12:122427523:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:122427523:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:122427523:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:122427523:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:122427523:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:122427523:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:122427523:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:122427523:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:122427523:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:122427523:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:122427523:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:122427523:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:122427523:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:122427523:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:122427523:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:122427523:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:122427523:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:122427523:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:122427523:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:122427523:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:122427523:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:122427523:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:122427523:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:122427523:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:122427523:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:122427523:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ADAD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.5/20
(GENOME_DK)
- HGVS:
NC_000004.12:g.122427537_122427549del, NC_000004.12:g.122427538_122427549del, NC_000004.12:g.122427539_122427549del, NC_000004.12:g.122427540_122427549del, NC_000004.12:g.122427541_122427549del, NC_000004.12:g.122427543_122427549del, NC_000004.12:g.122427544_122427549del, NC_000004.12:g.122427545_122427549del, NC_000004.12:g.122427546_122427549del, NC_000004.12:g.122427547_122427549del, NC_000004.12:g.122427548_122427549del, NC_000004.12:g.122427549del, NC_000004.12:g.122427549dup, NC_000004.12:g.122427548_122427549dup, NC_000004.12:g.122427547_122427549dup, NC_000004.12:g.122427546_122427549dup, NC_000004.12:g.122427545_122427549dup, NC_000004.12:g.122427544_122427549dup, NC_000004.12:g.122427543_122427549dup, NC_000004.12:g.122427542_122427549dup, NC_000004.12:g.122427541_122427549dup, NC_000004.12:g.122427539_122427549dup, NC_000004.12:g.122427538_122427549dup, NC_000004.12:g.122427524_122427549dup, NC_000004.12:g.122427549_122427550insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.122427549_122427550insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.123348692_123348704del, NC_000004.11:g.123348693_123348704del, NC_000004.11:g.123348694_123348704del, NC_000004.11:g.123348695_123348704del, NC_000004.11:g.123348696_123348704del, NC_000004.11:g.123348698_123348704del, NC_000004.11:g.123348699_123348704del, NC_000004.11:g.123348700_123348704del, NC_000004.11:g.123348701_123348704del, NC_000004.11:g.123348702_123348704del, NC_000004.11:g.123348703_123348704del, NC_000004.11:g.123348704del, NC_000004.11:g.123348704dup, NC_000004.11:g.123348703_123348704dup, NC_000004.11:g.123348702_123348704dup, NC_000004.11:g.123348701_123348704dup, NC_000004.11:g.123348700_123348704dup, NC_000004.11:g.123348699_123348704dup, NC_000004.11:g.123348698_123348704dup, NC_000004.11:g.123348697_123348704dup, NC_000004.11:g.123348696_123348704dup, NC_000004.11:g.123348694_123348704dup, NC_000004.11:g.123348693_123348704dup, NC_000004.11:g.123348679_123348704dup, NC_000004.11:g.123348704_123348705insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.123348704_123348705insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
8.
rs1491025469 has merged into rs34759757 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 4:122393050
(GRCh38)
4:123314205
(GRCh37)
- Canonical SPDI:
- NC_000004.12:122393036:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:122393036:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:122393036:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:122393036:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:122393036:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:122393036:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:122393036:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:122393036:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:122393036:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:122393036:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:122393036:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ADAD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.388/1943
(1000Genomes)
- HGVS:
NC_000004.12:g.122393050_122393054del, NC_000004.12:g.122393051_122393054del, NC_000004.12:g.122393052_122393054del, NC_000004.12:g.122393053_122393054del, NC_000004.12:g.122393054del, NC_000004.12:g.122393054dup, NC_000004.12:g.122393053_122393054dup, NC_000004.12:g.122393052_122393054dup, NC_000004.12:g.122393051_122393054dup, NC_000004.12:g.122393047_122393054dup, NC_000004.12:g.122393045_122393054dup, NC_000004.11:g.123314205_123314209del, NC_000004.11:g.123314206_123314209del, NC_000004.11:g.123314207_123314209del, NC_000004.11:g.123314208_123314209del, NC_000004.11:g.123314209del, NC_000004.11:g.123314209dup, NC_000004.11:g.123314208_123314209dup, NC_000004.11:g.123314207_123314209dup, NC_000004.11:g.123314206_123314209dup, NC_000004.11:g.123314202_123314209dup, NC_000004.11:g.123314200_123314209dup
10.
rs1490778759 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 4:122419042
(GRCh38)
4:123340197
(GRCh37)
- Canonical SPDI:
- NC_000004.12:122419041:G:T
- Gene:
- ADAD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000021/3
(GnomAD)
T=0.000023/6
(TOPMED)
- HGVS:
11.
rs1490722645 has merged into rs10527795 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTT>-,T,TTTT,TTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 4:122418314
(GRCh38)
4:123339469
(GRCh37)
- Canonical SPDI:
- NC_000004.12:122418306:TTTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000004.12:122418306:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000004.12:122418306:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:122418306:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:122418306:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:122418306:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:122418306:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:122418306:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:122418306:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:122418306:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:122418306:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:122418306:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:122418306:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:122418306:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:122418306:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:122418306:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:122418306:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:122418306:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:122418306:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:122418306:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:122418306:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:122418306:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ADAD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000004.12:g.122418314_122418327del, NC_000004.12:g.122418315_122418327del, NC_000004.12:g.122418318_122418327del, NC_000004.12:g.122418320_122418327del, NC_000004.12:g.122418323_122418327del, NC_000004.12:g.122418324_122418327del, NC_000004.12:g.122418325_122418327del, NC_000004.12:g.122418326_122418327del, NC_000004.12:g.122418327del, NC_000004.12:g.122418327dup, NC_000004.12:g.122418326_122418327dup, NC_000004.12:g.122418325_122418327dup, NC_000004.12:g.122418324_122418327dup, NC_000004.12:g.122418323_122418327dup, NC_000004.12:g.122418322_122418327dup, NC_000004.12:g.122418321_122418327dup, NC_000004.12:g.122418320_122418327dup, NC_000004.12:g.122418319_122418327dup, NC_000004.12:g.122418318_122418327dup, NC_000004.12:g.122418317_122418327dup, NC_000004.12:g.122418316_122418327dup, NC_000004.12:g.122418315_122418327dup, NC_000004.11:g.123339469_123339482del, NC_000004.11:g.123339470_123339482del, NC_000004.11:g.123339473_123339482del, NC_000004.11:g.123339475_123339482del, NC_000004.11:g.123339478_123339482del, NC_000004.11:g.123339479_123339482del, NC_000004.11:g.123339480_123339482del, NC_000004.11:g.123339481_123339482del, NC_000004.11:g.123339482del, NC_000004.11:g.123339482dup, NC_000004.11:g.123339481_123339482dup, NC_000004.11:g.123339480_123339482dup, NC_000004.11:g.123339479_123339482dup, NC_000004.11:g.123339478_123339482dup, NC_000004.11:g.123339477_123339482dup, NC_000004.11:g.123339476_123339482dup, NC_000004.11:g.123339475_123339482dup, NC_000004.11:g.123339474_123339482dup, NC_000004.11:g.123339473_123339482dup, NC_000004.11:g.123339472_123339482dup, NC_000004.11:g.123339471_123339482dup, NC_000004.11:g.123339470_123339482dup
12.
rs1490699838 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 4:122409947
(GRCh38)
4:123331102
(GRCh37)
- Canonical SPDI:
- NC_000004.12:122409946:T:A,NC_000004.12:122409946:T:C
- Gene:
- ADAD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
C=0.000071/1
(TOMMO)
- HGVS:
14.
rs1490554694 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 4:122418556
(GRCh38)
4:123339711
(GRCh37)
- Canonical SPDI:
- NC_000004.12:122418555:T:A
- Gene:
- ADAD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
15.
rs1490533529 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 4:122388238
(GRCh38)
4:123309393
(GRCh37)
- Canonical SPDI:
- NC_000004.12:122388237:G:C,NC_000004.12:122388237:G:T
- Gene:
- ADAD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
16.
rs1490482902 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:122387442
(GRCh38)
4:123308597
(GRCh37)
- Canonical SPDI:
- NC_000004.12:122387441:A:G
- Gene:
- ADAD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
17.
rs1490396444 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:122426752
(GRCh38)
4:123347907
(GRCh37)
- Canonical SPDI:
- NC_000004.12:122426751:C:T
- Gene:
- ADAD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
18.
rs1490389590 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 4:122388167
(GRCh38)
4:123309322
(GRCh37)
- Canonical SPDI:
- NC_000004.12:122388166:A:G,NC_000004.12:122388166:A:T
- Gene:
- ADAD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000108/2
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000223/1
(Estonian)
- HGVS:
19.
rs1490336657 has merged into rs541350342 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 4:122378299
(GRCh38)
4:123299454
(GRCh37)
- Canonical SPDI:
- NC_000004.12:122378285:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:122378285:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:122378285:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:122378285:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:122378285:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:122378285:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:122378285:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:122378285:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:122378285:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:122378285:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:122378285:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:122378285:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:122378285:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:122378285:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:122378285:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:122378285:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:122378285:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:122378285:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:122378285:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:122378285:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:122378285:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:122378285:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:122378285:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:122378285:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:122378285:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:122378285:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:122378285:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:122378285:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:122378285:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:122378285:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:122378285:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:122378285:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:122378285:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:122378285:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:122378285:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:122378285:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:122378285:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:122378285:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:122378285:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:122378285:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:122378285:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:122378285:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:122378285:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:122378285:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ADAD1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
AAAAAAAAAAAAAAAAAAAA=0./0
(GENOME_DK)
- HGVS:
NC_000004.12:g.122378299_122378325del, NC_000004.12:g.122378300_122378325del, NC_000004.12:g.122378301_122378325del, NC_000004.12:g.122378302_122378325del, NC_000004.12:g.122378303_122378325del, NC_000004.12:g.122378304_122378325del, NC_000004.12:g.122378305_122378325del, NC_000004.12:g.122378306_122378325del, NC_000004.12:g.122378307_122378325del, NC_000004.12:g.122378308_122378325del, NC_000004.12:g.122378309_122378325del, NC_000004.12:g.122378310_122378325del, NC_000004.12:g.122378311_122378325del, NC_000004.12:g.122378312_122378325del, NC_000004.12:g.122378313_122378325del, NC_000004.12:g.122378314_122378325del, NC_000004.12:g.122378315_122378325del, NC_000004.12:g.122378316_122378325del, NC_000004.12:g.122378317_122378325del, NC_000004.12:g.122378318_122378325del, NC_000004.12:g.122378319_122378325del, NC_000004.12:g.122378320_122378325del, NC_000004.12:g.122378321_122378325del, NC_000004.12:g.122378322_122378325del, NC_000004.12:g.122378323_122378325del, NC_000004.12:g.122378324_122378325del, NC_000004.12:g.122378325del, NC_000004.12:g.122378325dup, NC_000004.12:g.122378324_122378325dup, NC_000004.12:g.122378323_122378325dup, NC_000004.12:g.122378322_122378325dup, NC_000004.12:g.122378321_122378325dup, NC_000004.12:g.122378320_122378325dup, NC_000004.12:g.122378319_122378325dup, NC_000004.12:g.122378318_122378325dup, NC_000004.12:g.122378317_122378325dup, NC_000004.12:g.122378316_122378325dup, NC_000004.12:g.122378315_122378325dup, NC_000004.12:g.122378314_122378325dup, NC_000004.12:g.122378312_122378325dup, NC_000004.12:g.122378311_122378325dup, NC_000004.12:g.122378310_122378325dup, NC_000004.12:g.122378309_122378325dup, NC_000004.12:g.122378296_122378325dup, NC_000004.11:g.123299454_123299480del, NC_000004.11:g.123299455_123299480del, NC_000004.11:g.123299456_123299480del, NC_000004.11:g.123299457_123299480del, NC_000004.11:g.123299458_123299480del, NC_000004.11:g.123299459_123299480del, NC_000004.11:g.123299460_123299480del, NC_000004.11:g.123299461_123299480del, NC_000004.11:g.123299462_123299480del, NC_000004.11:g.123299463_123299480del, NC_000004.11:g.123299464_123299480del, NC_000004.11:g.123299465_123299480del, NC_000004.11:g.123299466_123299480del, NC_000004.11:g.123299467_123299480del, NC_000004.11:g.123299468_123299480del, NC_000004.11:g.123299469_123299480del, NC_000004.11:g.123299470_123299480del, NC_000004.11:g.123299471_123299480del, NC_000004.11:g.123299472_123299480del, NC_000004.11:g.123299473_123299480del, NC_000004.11:g.123299474_123299480del, NC_000004.11:g.123299475_123299480del, NC_000004.11:g.123299476_123299480del, NC_000004.11:g.123299477_123299480del, NC_000004.11:g.123299478_123299480del, NC_000004.11:g.123299479_123299480del, NC_000004.11:g.123299480del, NC_000004.11:g.123299480dup, NC_000004.11:g.123299479_123299480dup, NC_000004.11:g.123299478_123299480dup, NC_000004.11:g.123299477_123299480dup, NC_000004.11:g.123299476_123299480dup, NC_000004.11:g.123299475_123299480dup, NC_000004.11:g.123299474_123299480dup, NC_000004.11:g.123299473_123299480dup, NC_000004.11:g.123299472_123299480dup, NC_000004.11:g.123299471_123299480dup, NC_000004.11:g.123299470_123299480dup, NC_000004.11:g.123299469_123299480dup, NC_000004.11:g.123299467_123299480dup, NC_000004.11:g.123299466_123299480dup, NC_000004.11:g.123299465_123299480dup, NC_000004.11:g.123299464_123299480dup, NC_000004.11:g.123299451_123299480dup
20.
rs1490287274 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 4:122418643
(GRCh38)
4:123339798
(GRCh37)
- Canonical SPDI:
- NC_000004.12:122418642:A:C
- Gene:
- ADAD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000034/9
(TOPMED)
C=0.000156/1
(1000Genomes)
- HGVS: