rs121908453

Orientation

minus

Stabilized

minus

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

Make rs121908453(A;A)

Make rs121908453(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

108896995

Gene	EDAR, RANBP2

is a	snp
is	mentioned by
dbSNP	rs121908453
dbSNP (classic)	rs121908453
ClinGen	rs121908453
ebi	rs121908453
HLI	rs121908453
Exac	rs121908453
Gnomad	rs121908453
Varsome	rs121908453
LitVar	rs121908453
Map	rs121908453
PheGenI	rs121908453
Biobank	rs121908453
1000 genomes	rs121908453
hgdp	rs121908453
ensembl	rs121908453
geneview	rs121908453
scholar	rs121908453
google	rs121908453
pharmgkb	rs121908453
gwascentral	rs121908453
openSNP	rs121908453
23andMe	rs121908453
SNPshot	rs121908453
SNPdbe	rs121908453
MSV3d	rs121908453
GWAS Ctlg	rs121908453

Max Magnitude

0

OMIM	604095
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121908453(A;A)
Alt	rs121908453(A;A)
Reference	Rs121908453(G;G)
Significance	Pathogenic
Disease	Ectodermal dysplasia 10a Autosomal dominant hypohidrotic ectodermal dysplasia not provided
Variation	info
Gene	EDAR
CLNDBN	Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant Autosomal dominant hypohidrotic ectodermal dysplasia not provided
Reversed	1
HGVS	NC_000002.11:g.109513451C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006211.5, RCV000174398.2, RCV000255701.1,