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rs730882158

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730882158(A;A)
Make rs730882158(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position232523524
GenePRSS56
is asnp
is mentioned by
dbSNPrs730882158
ebirs730882158
HLIrs730882158
Exacrs730882158
Varsomers730882158
Maprs730882158
PheGenIrs730882158
hapmaprs730882158
1000 genomesrs730882158
hgdprs730882158
ensemblrs730882158
gopubmedrs730882158
geneviewrs730882158
scholarrs730882158
googlers730882158
pharmgkbrs730882158
gwascentralrs730882158
openSNPrs730882158
23andMers730882158
23andMe allrs730882158
SNP Nexus

SNPshotrs730882158
SNPdbers730882158
MSV3drs730882158
GWAS Ctlgrs730882158
Max Magnitude0
ClinVar
Risk rs730882158(A;A)
Alt rs730882158(A;A)
Reference rs730882158(G;G)
Significance Pathogenic
Disease Microphthalmia
Variation info
Gene PRSS56
CLNDBN Microphthalmia, isolated 6
Reversed 0
HGVS NC_000002.11:g.233388234G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000162038.3,