rs121908450

Orientation

minus

Stabilized

minus

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

Make rs121908450(A;A)

Make rs121908450(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

108929288

Gene	EDAR, RANBP2

is a	snp
is	mentioned by
dbSNP	rs121908450
dbSNP (classic)	rs121908450
ClinGen	rs121908450
ebi	rs121908450
HLI	rs121908450
Exac	rs121908450
Gnomad	rs121908450
Varsome	rs121908450
LitVar	rs121908450
Map	rs121908450
PheGenI	rs121908450
Biobank	rs121908450
1000 genomes	rs121908450
hgdp	rs121908450
ensembl	rs121908450
geneview	rs121908450
scholar	rs121908450
google	rs121908450
pharmgkb	rs121908450
gwascentral	rs121908450
openSNP	rs121908450
23andMe	rs121908450
SNPshot	rs121908450
SNPdbe	rs121908450
MSV3d	rs121908450
GWAS Ctlg	rs121908450

Max Magnitude

0

OMIM	604095
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121908450(A;A)
Alt	rs121908450(A;A)
Reference	Rs121908450(G;G)
Significance	Pathogenic
Disease	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Ectodermal dysplasia 10a
Variation	info
Gene	EDAR
CLNDBN	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant
Reversed	1
HGVS	NC_000002.11:g.109545744C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006206.5, RCV000032598.5,