rs121908455

Orientation

minus

Stabilized

minus

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

Make rs121908455(A;C)

Make rs121908455(C;C)

Reference

GRCh38 38.1/141

Chromosome

2

Position

108929225

Gene	EDAR, RANBP2

is a	snp
is	mentioned by
dbSNP	rs121908455
dbSNP (classic)	rs121908455
ClinGen	rs121908455
ebi	rs121908455
HLI	rs121908455
Exac	rs121908455
Gnomad	rs121908455
Varsome	rs121908455
LitVar	rs121908455
Map	rs121908455
PheGenI	rs121908455
Biobank	rs121908455
1000 genomes	rs121908455
hgdp	rs121908455
ensembl	rs121908455
geneview	rs121908455
scholar	rs121908455
google	rs121908455
pharmgkb	rs121908455
gwascentral	rs121908455
openSNP	rs121908455
23andMe	rs121908455
SNPshot	rs121908455
SNPdbe	rs121908455
MSV3d	rs121908455
GWAS Ctlg	rs121908455

Max Magnitude

0

OMIM	604095
Desc
Variant	0009
Related	also

ClinVar
Risk	rs121908455(C;C)
Alt	rs121908455(C;C)
Reference	Rs121908455(A;A)
Significance	Pathogenic
Disease	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
Variation	info
Gene	EDAR
CLNDBN	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
Reversed	1
HGVS	NC_000002.11:g.109545681T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006214.4,