rs587776737

Orientation

plus

Stabilized

plus

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

Make rs587776737(-;CCTGGCTTTTATC)

Make rs587776737(CCTGGCTTTTATC;CCTGGCTTTTATC)

Reference

GRCh38 38.1/142

Chromosome

X

Position

48515937

Gene

PORCN

is a	snp
is	mentioned by
dbSNP	rs587776737
dbSNP (classic)	rs587776737
ClinGen	rs587776737
ebi	rs587776737
HLI	rs587776737
Exac	rs587776737
Gnomad	rs587776737
Varsome	rs587776737
LitVar	rs587776737
Map	rs587776737
PheGenI	rs587776737
Biobank	rs587776737
1000 genomes	rs587776737
hgdp	rs587776737
ensembl	rs587776737
geneview	rs587776737
scholar	rs587776737
google	rs587776737
pharmgkb	rs587776737
gwascentral	rs587776737
openSNP	rs587776737
23andMe	rs587776737
SNPshot	rs587776737
SNPdbe	rs587776737
MSV3d	rs587776737
GWAS Ctlg	rs587776737

Max Magnitude

0

ClinVar
Risk	rs587776737(TCCCTGGCTTTTA;TCCCTGGCTTTTA)
Alt	rs587776737(TCCCTGGCTTTTA;TCCCTGGCTTTTA)
Reference	Rs587776737(-;-)
Significance	Pathogenic
Disease	Focal dermal hypoplasia
Variation	info
Gene	PORCN
CLNDBN	Focal dermal hypoplasia
Reversed	0
HGVS	NC_000023.10:g.48374313_48374325dupCCTGGCTTTTATC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011446.8,