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rs77453353

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in complete genomics
(C;C) 0 common in clinvar
Make rs77453353(-;G)
Make rs77453353(G;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position100749778
GenePAX2
is asnp
is mentioned by
dbSNPrs77453353
ebirs77453353
HLIrs77453353
Exacrs77453353
Varsomers77453353
Maprs77453353
PheGenIrs77453353
hapmaprs77453353
1000 genomesrs77453353
hgdprs77453353
ensemblrs77453353
gopubmedrs77453353
geneviewrs77453353
scholarrs77453353
googlers77453353
pharmgkbrs77453353
gwascentralrs77453353
openSNPrs77453353
23andMers77453353
23andMe allrs77453353
SNP Nexus

SNPshotrs77453353
SNPdbers77453353
MSV3drs77453353
GWAS Ctlgrs77453353
Max Magnitude0
OMIM167409
Desc
Variant0002
Relatedalso
OMIM167409
Desc
Variant0009
Relatedalso
ClinVar
Risk rs77453353(CG,CGG;CG,CGG)
Alt rs77453353(CG,CGG;CG,CGG)
Reference rs77453353(C;C)
Significance Pathogenic
Disease Renal coloboma syndrome not provided
Variation info
Gene PAX2
CLNDBN Renal coloboma syndrome not provided
Reversed 0
HGVS NC_000010.10:g.102509534_102509535dupGG; NC_000010.10:g.102509535dupG
CLNSRC OMIM Allelic Variant
CLNACC RCV000014813.25, RCV000014806.22, RCV000144381.1,