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rs730882064

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs730882064(-;-)
Make rs730882064(-;C)
Make rs730882064(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position232523825
GenePRSS56
is asnp
is mentioned by
dbSNPrs730882064
ebirs730882064
HLIrs730882064
Exacrs730882064
Varsomers730882064
Maprs730882064
PheGenIrs730882064
hapmaprs730882064
1000 genomesrs730882064
hgdprs730882064
ensemblrs730882064
gopubmedrs730882064
geneviewrs730882064
scholarrs730882064
googlers730882064
pharmgkbrs730882064
gwascentralrs730882064
openSNPrs730882064
23andMers730882064
23andMe allrs730882064
SNP Nexus

SNPshotrs730882064
SNPdbers730882064
MSV3drs730882064
GWAS Ctlgrs730882064
Max Magnitude0
ClinVar
Risk rs730882064(C;C)
Alt rs730882064(C;C)
Reference rs730882064(;)
Significance Pathogenic
Disease Microphthalmia
Variation info
Gene PRSS56
CLNDBN Microphthalmia, isolated 6
Reversed 0
HGVS NC_000002.11:g.233388535dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000024073.3,