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rs730882162

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730882162(A;A)
Make rs730882162(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position232525249
GeneCHRND, PRSS56
is asnp
is mentioned by
dbSNPrs730882162
dbSNP (classic)rs730882162
ClinGenrs730882162
ebirs730882162
HLIrs730882162
Exacrs730882162
Gnomadrs730882162
Varsomers730882162
LitVarrs730882162
Maprs730882162
PheGenIrs730882162
Biobankrs730882162
1000 genomesrs730882162
hgdprs730882162
ensemblrs730882162
geneviewrs730882162
scholarrs730882162
googlers730882162
pharmgkbrs730882162
gwascentralrs730882162
openSNPrs730882162
23andMers730882162
SNPshotrs730882162
SNPdbers730882162
MSV3drs730882162
GWAS Ctlgrs730882162
Max Magnitude0
ClinVar
Risk rs730882162(A;A) rs730882162(C;C)
Alt rs730882162(A;A) rs730882162(C;C)
Reference Rs730882162(G;G)
Significance Pathogenic
Disease Microphthalmia
Variation info
Gene CHRND PRSS56
CLNDBN Microphthalmia, isolated 6
Reversed 0
HGVS NC_000002.11:g.233389959G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000162043.3,