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rs78122364

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs78122364(C;T)
Make rs78122364(T;T)
ReferenceGRCh38 38.1/142
Chromosome10
Position100824682
GenePAX2
is asnp
is mentioned by
dbSNPrs78122364
dbSNP (classic)rs78122364
ClinGenrs78122364
ebirs78122364
HLIrs78122364
Exacrs78122364
Gnomadrs78122364
Varsomers78122364
LitVarrs78122364
Maprs78122364
PheGenIrs78122364
Biobankrs78122364
1000 genomesrs78122364
hgdprs78122364
ensemblrs78122364
geneviewrs78122364
scholarrs78122364
googlers78122364
pharmgkbrs78122364
gwascentralrs78122364
openSNPrs78122364
23andMers78122364
SNPshotrs78122364
SNPdbers78122364
MSV3drs78122364
GWAS Ctlgrs78122364
Max Magnitude0
ClinVar
Risk rs78122364(A;A) rs78122364(T;T)
Alt rs78122364(A;A) rs78122364(T;T)
Reference Rs78122364(C;C)
Significance Pathogenic
Disease Renal coloboma syndrome
Variation info
Gene PAX2
CLNDBN Renal coloboma syndrome
Reversed 0
HGVS NC_000010.10:g.102584439C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014814.25,