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

rs387906530

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs387906530(-;-)
Make rs387906530(-;GAGACC)
Make rs387906530(GAGACC;GAGACC)
ReferenceGRCh38 38.1/142
Chromosome10
Position100750706
GenePAX2
is asnp
is mentioned by
dbSNPrs387906530
ebirs387906530
HLIrs387906530
Exacrs387906530
Varsomers387906530
Maprs387906530
PheGenIrs387906530
hapmaprs387906530
1000 genomesrs387906530
hgdprs387906530
ensemblrs387906530
gopubmedrs387906530
geneviewrs387906530
scholarrs387906530
googlers387906530
pharmgkbrs387906530
gwascentralrs387906530
openSNPrs387906530
23andMers387906530
23andMe allrs387906530
SNP Nexus

SNPshotrs387906530
SNPdbers387906530
MSV3drs387906530
GWAS Ctlgrs387906530
Max Magnitude0
ClinVar
Risk rs387906530(CGAGAC;CGAGAC)
Alt rs387906530(CGAGAC;CGAGAC)
Reference rs387906530(;)
Significance Pathogenic
Disease Renal coloboma syndrome
Variation info
Gene PAX2
CLNDBN Renal coloboma syndrome
Reversed 0
HGVS NC_000010.10:g.102510459_102510464dupAGACCG
CLNSRC OMIM Allelic Variant
CLNACC RCV000014811.23,