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rs79555199

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs79555199(A;A)
Make rs79555199(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position100750707
GenePAX2
is asnp
is mentioned by
dbSNPrs79555199
ebirs79555199
HLIrs79555199
Exacrs79555199
Varsomers79555199
Maprs79555199
PheGenIrs79555199
hapmaprs79555199
1000 genomesrs79555199
hgdprs79555199
ensemblrs79555199
gopubmedrs79555199
geneviewrs79555199
scholarrs79555199
googlers79555199
pharmgkbrs79555199
gwascentralrs79555199
openSNPrs79555199
23andMers79555199
23andMe allrs79555199
SNP Nexus

SNPshotrs79555199
SNPdbers79555199
MSV3drs79555199
GWAS Ctlgrs79555199
Max Magnitude0
OMIM167409
Desc
Variant0006
Relatedalso
ClinVar
Risk rs79555199(A;A)
Alt rs79555199(A;A)
Reference rs79555199(G;G)
Significance Pathogenic
Disease Renal coloboma syndrome
Variation info
Gene PAX2
CLNDBN Renal coloboma syndrome
Reversed 0
HGVS NC_000010.10:g.102510464G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014810.21,