rs132630316

Orientation

plus

Stabilized

plus

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

Make rs132630316(C;C)

Make rs132630316(C;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

70028001

Gene

EDA

is a	snp
is	mentioned by
dbSNP	rs132630316
dbSNP (classic)	rs132630316
ClinGen	rs132630316
ebi	rs132630316
HLI	rs132630316
Exac	rs132630316
Gnomad	rs132630316
Varsome	rs132630316
LitVar	rs132630316
Map	rs132630316
PheGenI	rs132630316
Biobank	rs132630316
1000 genomes	rs132630316
hgdp	rs132630316
ensembl	rs132630316
geneview	rs132630316
scholar	rs132630316
google	rs132630316
pharmgkb	rs132630316
gwascentral	rs132630316
openSNP	rs132630316
23andMe	rs132630316
SNPshot	rs132630316
SNPdbe	rs132630316
MSV3d	rs132630316
GWAS Ctlg	rs132630316

Max Magnitude

0

OMIM	300451
Desc
Variant	0009
Related	also

ClinVar
Risk	rs132630316(C;C)
Alt	rs132630316(C;C)
Reference	Rs132630316(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.69247851G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011786.3,