rs132630311

Orientation

plus

Stabilized

plus

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

Make rs132630311(A;A)

Make rs132630311(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

69616495

Gene

EDA

is a	snp
is	mentioned by
dbSNP	rs132630311
dbSNP (classic)	rs132630311
ClinGen	rs132630311
ebi	rs132630311
HLI	rs132630311
Exac	rs132630311
Gnomad	rs132630311
Varsome	rs132630311
LitVar	rs132630311
Map	rs132630311
PheGenI	rs132630311
Biobank	rs132630311
1000 genomes	rs132630311
hgdp	rs132630311
ensembl	rs132630311
geneview	rs132630311
scholar	rs132630311
google	rs132630311
pharmgkb	rs132630311
gwascentral	rs132630311
openSNP	rs132630311
23andMe	rs132630311
SNPshot	rs132630311
SNPdbe	rs132630311
MSV3d	rs132630311
GWAS Ctlg	rs132630311

Max Magnitude

0

OMIM	300451
Desc
Variant	0004
Related	also

ClinVar
Risk	rs132630311(A;A)
Alt	rs132630311(A;A)
Reference	Rs132630311(G;G)
Significance	Pathogenic
Disease	Hypohidrotic X-linked ectodermal dysplasia
Variation	info
Gene	EDA
CLNDBN	Hypohidrotic X-linked ectodermal dysplasia
Reversed	0
HGVS	NC_000023.10:g.68836339G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011781.10,