rs730882161

Orientation

plus

Stabilized

plus

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

Make rs730882161(C;C)

Make rs730882161(C;T)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

232523942

Gene

PRSS56

is a	snp
is	mentioned by
dbSNP	rs730882161
dbSNP (classic)	rs730882161
ClinGen	rs730882161
ebi	rs730882161
HLI	rs730882161
Exac	rs730882161
Gnomad	rs730882161
Varsome	rs730882161
LitVar	rs730882161
Map	rs730882161
PheGenI	rs730882161
Biobank	rs730882161
1000 genomes	rs730882161
hgdp	rs730882161
ensembl	rs730882161
geneview	rs730882161
scholar	rs730882161
google	rs730882161
pharmgkb	rs730882161
gwascentral	rs730882161
openSNP	rs730882161
23andMe	rs730882161
SNPshot	rs730882161
SNPdbe	rs730882161
MSV3d	rs730882161
GWAS Ctlg	rs730882161

Max Magnitude

0

ClinVar
Risk	rs730882161(C;C)
Alt	rs730882161(C;C)
Reference	Rs730882161(T;T)
Significance	Pathogenic
Disease	Microphthalmia
Variation	info
Gene	PRSS56
CLNDBN	Microphthalmia, isolated 6
Reversed	0
HGVS	NC_000002.11:g.233388652T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000162042.3,