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rs730882158

From SNPedia

Orientationplus
Stabilizedplus
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
dbSNP (classic)rs730882158
ClinGenrs730882158
ebirs730882158
HLIrs730882158
Exacrs730882158
Gnomadrs730882158
Varsomers730882158
LitVarrs730882158
Maprs730882158
PheGenIrs730882158
Biobankrs730882158
1000 genomesrs730882158
hgdprs730882158
ensemblrs730882158
geneviewrs730882158
scholarrs730882158
googlers730882158
pharmgkbrs730882158
gwascentralrs730882158
openSNPrs730882158
23andMers730882158
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 UniProtKB (protein)
CLNACC RCV000162038.3,