Have questions? Visit https://www.reddit.com/r/SNPedia

rs730882161

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs730882161(C;C)
Make rs730882161(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position232523942
GenePRSS56
is asnp
is mentioned by
dbSNPrs730882161
ebirs730882161
HLIrs730882161
Exacrs730882161
Varsomers730882161
Maprs730882161
PheGenIrs730882161
hapmaprs730882161
1000 genomesrs730882161
hgdprs730882161
ensemblrs730882161
gopubmedrs730882161
geneviewrs730882161
scholarrs730882161
googlers730882161
pharmgkbrs730882161
gwascentralrs730882161
openSNPrs730882161
23andMers730882161
23andMe allrs730882161
SNP Nexus

SNPshotrs730882161
SNPdbers730882161
MSV3drs730882161
GWAS Ctlgrs730882161
Max Magnitude0
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
CLNACC RCV000162042.3,