rs132630312

Orientation

plus

Stabilized

plus

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

Make rs132630312(C;T)

Make rs132630312(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

69957093

Gene

EDA

is a	snp
is	mentioned by
dbSNP	rs132630312
dbSNP (classic)	rs132630312
ClinGen	rs132630312
ebi	rs132630312
HLI	rs132630312
Exac	rs132630312
Gnomad	rs132630312
Varsome	rs132630312
LitVar	rs132630312
Map	rs132630312
PheGenI	rs132630312
Biobank	rs132630312
1000 genomes	rs132630312
hgdp	rs132630312
ensembl	rs132630312
geneview	rs132630312
scholar	rs132630312
google	rs132630312
pharmgkb	rs132630312
gwascentral	rs132630312
openSNP	rs132630312
23andMe	rs132630312
SNPshot	rs132630312
SNPdbe	rs132630312
MSV3d	rs132630312
GWAS Ctlg	rs132630312

Max Magnitude

0

OMIM	300451
Desc
Variant	0005
Related	also

ClinVar
Risk	rs132630312(T;T)
Alt	rs132630312(T;T)
Reference	Rs132630312(C;C)
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.69176943C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011782.8, RCV000211755.1, RCV000254983.2,