rs1057519006

Orientation

plus

Stabilized

plus

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

Make rs1057519006(C;C)

Make rs1057519006(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

X

Position

48512598

Gene

PORCN

is a	snp
is	mentioned by
dbSNP	rs1057519006
dbSNP (classic)	rs1057519006
ClinGen	rs1057519006
ebi	rs1057519006
HLI	rs1057519006
Exac	rs1057519006
Gnomad	rs1057519006
Varsome	rs1057519006
LitVar	rs1057519006
Map	rs1057519006
PheGenI	rs1057519006
Biobank	rs1057519006
1000 genomes	rs1057519006
hgdp	rs1057519006
ensembl	rs1057519006
geneview	rs1057519006
scholar	rs1057519006
google	rs1057519006
pharmgkb	rs1057519006
gwascentral	rs1057519006
openSNP	rs1057519006
23andMe	rs1057519006
SNPshot	rs1057519006
SNPdbe	rs1057519006
MSV3d	rs1057519006
GWAS Ctlg	rs1057519006

Max Magnitude

0

ClinVar
Risk	rs1057519006(C;C)
Alt	rs1057519006(C;C)
Reference	Rs1057519006(T;T)
Significance	Probable-Pathogenic
Disease	Focal dermal hypoplasia
Variation	info
Gene	PORCN
CLNDBN	Focal dermal hypoplasia
Reversed	0
HGVS	NC_000023.10:g.48370986T>C
CLNSRC
CLNACC	RCV000414798.1,