rs752765582

Orientation

plus

Stabilized

plus

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

Make rs752765582(-;-)

Make rs752765582(-;C)

Reference

GRCh38.p2 38.2/146

Chromosome

9

Position

95516817

Gene

PTCH1

is a	snp
is	mentioned by
dbSNP	rs752765582
dbSNP (classic)	rs752765582
ClinGen	rs752765582
ebi	rs752765582
HLI	rs752765582
Exac	rs752765582
Gnomad	rs752765582
Varsome	rs752765582
LitVar	rs752765582
Map	rs752765582
PheGenI	rs752765582
Biobank	rs752765582
1000 genomes	rs752765582
hgdp	rs752765582
ensembl	rs752765582
geneview	rs752765582
scholar	rs752765582
google	rs752765582
pharmgkb	rs752765582
gwascentral	rs752765582
openSNP	rs752765582
23andMe	rs752765582
SNPshot	rs752765582
SNPdbe	rs752765582
MSV3d	rs752765582
GWAS Ctlg	rs752765582

Max Magnitude

0

ClinVar
Risk	rs752765582(-;-)
Alt	rs752765582(-;-)
Reference	Rs752765582(C;C)
Significance	Probable-Pathogenic
Disease	Anophthalmia - microphthalmia
Variation	info
Gene	PTCH1
CLNDBN	Anophthalmia - microphthalmia
Reversed	0
HGVS	NC_000009.11:g.98279099delC
CLNSRC
CLNACC	RCV000207438.1,