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rs730882160

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730882160(A;A)
Make rs730882160(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position232523062
GenePRSS56
is asnp
is mentioned by
dbSNPrs730882160
dbSNP (classic)rs730882160
ClinGenrs730882160
ebirs730882160
HLIrs730882160
Exacrs730882160
Gnomadrs730882160
Varsomers730882160
LitVarrs730882160
Maprs730882160
PheGenIrs730882160
Biobankrs730882160
1000 genomesrs730882160
hgdprs730882160
ensemblrs730882160
geneviewrs730882160
scholarrs730882160
googlers730882160
pharmgkbrs730882160
gwascentralrs730882160
openSNPrs730882160
23andMers730882160
SNPshotrs730882160
SNPdbers730882160
MSV3drs730882160
GWAS Ctlgrs730882160
Max Magnitude0
ClinVar
Risk rs730882160(A;A)
Alt rs730882160(A;A)
Reference Rs730882160(G;G)
Significance Pathogenic
Disease Microphthalmia
Variation info
Gene PRSS56
CLNDBN Microphthalmia, isolated 6
Reversed 0
HGVS NC_000002.11:g.233387772G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000162041.3,