rs137852218

Orientation

plus

Stabilized

plus

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

Make rs137852218(C;T)

Make rs137852218(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

48511932

Gene

PORCN

is a	snp
is	mentioned by
dbSNP	rs137852218
dbSNP (classic)	rs137852218
ClinGen	rs137852218
ebi	rs137852218
HLI	rs137852218
Exac	rs137852218
Gnomad	rs137852218
Varsome	rs137852218
LitVar	rs137852218
Map	rs137852218
PheGenI	rs137852218
Biobank	rs137852218
1000 genomes	rs137852218
hgdp	rs137852218
ensembl	rs137852218
geneview	rs137852218
scholar	rs137852218
google	rs137852218
pharmgkb	rs137852218
gwascentral	rs137852218
openSNP	rs137852218
23andMe	rs137852218
SNPshot	rs137852218
SNPdbe	rs137852218
MSV3d	rs137852218
GWAS Ctlg	rs137852218

Max Magnitude

0

OMIM	300651
Desc
Variant	0003
Related	also

ClinVar
Risk	rs137852218(T;T)
Alt	rs137852218(T;T)
Reference	Rs137852218(C;C)
Significance	Pathogenic
Disease	Focal dermal hypoplasia
Variation	info
Gene	PORCN
CLNDBN	Focal dermal hypoplasia
Reversed	0
HGVS	NC_000023.10:g.48370320C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011448.3,