rs132630314

Orientation

plus

Stabilized

plus

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

Make rs132630314(A;A)

Make rs132630314(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

69957097

Gene

EDA

is a	snp
is	mentioned by
dbSNP	rs132630314
dbSNP (classic)	rs132630314
ClinGen	rs132630314
ebi	rs132630314
HLI	rs132630314
Exac	rs132630314
Gnomad	rs132630314
Varsome	rs132630314
LitVar	rs132630314
Map	rs132630314
PheGenI	rs132630314
Biobank	rs132630314
1000 genomes	rs132630314
hgdp	rs132630314
ensembl	rs132630314
geneview	rs132630314
scholar	rs132630314
google	rs132630314
pharmgkb	rs132630314
gwascentral	rs132630314
openSNP	rs132630314
23andMe	rs132630314
SNPshot	rs132630314
SNPdbe	rs132630314
MSV3d	rs132630314
GWAS Ctlg	rs132630314

Max Magnitude

0

OMIM	300451
Desc
Variant	0007
Related	also

ClinVar
Risk	rs132630314(A;A) rs132630314(T;T)
Alt	rs132630314(A;A) rs132630314(T;T)
Reference	Rs132630314(G;G)
Significance	Pathogenic
Disease	Hypohidrotic X-linked ectodermal dysplasia Hypohidrotic ectodermal dysplasia not provided
Variation	info
Gene	EDA
CLNDBN	Hypohidrotic X-linked ectodermal dysplasia Hypohidrotic ectodermal dysplasia not provided
Reversed	0
HGVS	NC_000023.10:g.69176947G>A; NC_000023.10:g.69176947G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000032612.5, RCV000211756.1, RCV000255365.2, RCV000037172.3,