rs121912423

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs121912423(C;T)

Make rs121912423(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

154597125

Gene

ADAR

is a	snp
is	mentioned by
dbSNP	rs121912423
dbSNP (classic)	rs121912423
ClinGen	rs121912423
ebi	rs121912423
HLI	rs121912423
Exac	rs121912423
Gnomad	rs121912423
Varsome	rs121912423
LitVar	rs121912423
Map	rs121912423
PheGenI	rs121912423
Biobank	rs121912423
1000 genomes	rs121912423
hgdp	rs121912423
ensembl	rs121912423
geneview	rs121912423
scholar	rs121912423
google	rs121912423
pharmgkb	rs121912423
gwascentral	rs121912423
openSNP	rs121912423
23andMe	rs121912423
SNPshot	rs121912423
SNPdbe	rs121912423
MSV3d	rs121912423
GWAS Ctlg	rs121912423

Max Magnitude

0

OMIM	146920
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121912423(A;A) rs121912423(G;G) rs121912423(T;T)
Alt	rs121912423(A;A) rs121912423(G;G) rs121912423(T;T)
Reference	Rs121912423(C;C)
Significance	Pathogenic
Disease	Symmetrical dyschromatosis of extremities
Variation	info
Gene	ADAR
CLNDBN	Symmetrical dyschromatosis of extremities
Reversed	1
HGVS	NC_000001.10:g.154569601G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000015944.25,