rs387907095

Orientation

plus

Stabilized

plus

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

Make rs387907095(C;C)

Make rs387907095(C;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

232523492

Gene

PRSS56

is a	snp
is	mentioned by
dbSNP	rs387907095
dbSNP (classic)	rs387907095
ClinGen	rs387907095
ebi	rs387907095
HLI	rs387907095
Exac	rs387907095
Gnomad	rs387907095
Varsome	rs387907095
LitVar	rs387907095
Map	rs387907095
PheGenI	rs387907095
Biobank	rs387907095
1000 genomes	rs387907095
hgdp	rs387907095
ensembl	rs387907095
geneview	rs387907095
scholar	rs387907095
google	rs387907095
pharmgkb	rs387907095
gwascentral	rs387907095
openSNP	rs387907095
23andMe	rs387907095
SNPshot	rs387907095
SNPdbe	rs387907095
MSV3d	rs387907095
GWAS Ctlg	rs387907095

Max Magnitude

0

ClinVar
Risk	rs387907095(C;C)
Alt	rs387907095(C;C)
Reference	Rs387907095(G;G)
Significance	Pathogenic
Disease	Microphthalmia
Variation	info
Gene	PRSS56
CLNDBN	Microphthalmia, isolated 6
Reversed	0
HGVS	NC_000002.11:g.233388202G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000024075.3,