rs132630317

Orientation

plus

Stabilized

plus

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

Make rs132630317(A;A)

Make rs132630317(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

70035478

Gene

EDA

is a	snp
is	mentioned by
dbSNP	rs132630317
dbSNP (classic)	rs132630317
ClinGen	rs132630317
ebi	rs132630317
HLI	rs132630317
Exac	rs132630317
Gnomad	rs132630317
Varsome	rs132630317
LitVar	rs132630317
Map	rs132630317
PheGenI	rs132630317
Biobank	rs132630317
1000 genomes	rs132630317
hgdp	rs132630317
ensembl	rs132630317
geneview	rs132630317
scholar	rs132630317
google	rs132630317
pharmgkb	rs132630317
gwascentral	rs132630317
openSNP	rs132630317
23andMe	rs132630317
SNPshot	rs132630317
SNPdbe	rs132630317
MSV3d	rs132630317
GWAS Ctlg	rs132630317

Max Magnitude

0

OMIM	300451
Desc
Variant	0010
Related	also

ClinVar
Risk	rs132630317(A;A) rs132630317(T;T)
Alt	rs132630317(A;A) rs132630317(T;T)
Reference	Rs132630317(G;G)
Significance	Pathogenic
Disease	Hypohidrotic X-linked ectodermal dysplasia not provided
Variation	info
Gene	EDA
CLNDBN	Hypohidrotic X-linked ectodermal dysplasia not provided
Reversed	0
HGVS	NC_000023.10:g.69255328G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011787.10, RCV000255050.1,