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rs75462234

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs75462234(-;-)
Make rs75462234(-;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position100749778
GenePAX2
is asnp
is mentioned by
dbSNPrs75462234
ebirs75462234
HLIrs75462234
Exacrs75462234
Varsomers75462234
Maprs75462234
PheGenIrs75462234
hapmaprs75462234
1000 genomesrs75462234
hgdprs75462234
ensemblrs75462234
gopubmedrs75462234
geneviewrs75462234
scholarrs75462234
googlers75462234
pharmgkbrs75462234
gwascentralrs75462234
openSNPrs75462234
23andMers75462234
23andMe allrs75462234
SNP Nexus

SNPshotrs75462234
SNPdbers75462234
MSV3drs75462234
GWAS Ctlgrs75462234
Max Magnitude0
OMIM167409
Desc
Variant0008
Relatedalso
ClinVar
Risk rs75462234(;)
Alt rs75462234(;)
Reference rs75462234(G;G)
Significance Pathogenic
Disease Renal coloboma syndrome
Variation info
Gene PAX2
CLNDBN Renal coloboma syndrome
Reversed 0
HGVS NC_000010.10:g.102509535delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000014812.25,