rs121908451

Orientation

minus

Stabilized

minus

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

Make rs121908451(C;C)

Make rs121908451(C;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

108929295

Gene	EDAR, RANBP2

is a	snp
is	mentioned by
dbSNP	rs121908451
dbSNP (classic)	rs121908451
ClinGen	rs121908451
ebi	rs121908451
HLI	rs121908451
Exac	rs121908451
Gnomad	rs121908451
Varsome	rs121908451
LitVar	rs121908451
Map	rs121908451
PheGenI	rs121908451
Biobank	rs121908451
1000 genomes	rs121908451
hgdp	rs121908451
ensembl	rs121908451
geneview	rs121908451
scholar	rs121908451
google	rs121908451
pharmgkb	rs121908451
gwascentral	rs121908451
openSNP	rs121908451
23andMe	rs121908451
SNPshot	rs121908451
SNPdbe	rs121908451
MSV3d	rs121908451
GWAS Ctlg	rs121908451

Max Magnitude

0

OMIM	604095
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121908451(C;C)
Alt	rs121908451(C;C)
Reference	Rs121908451(T;T)
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.109545751A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006209.3,