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rs143141689

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs143141689(C;T)
Make rs143141689(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position52397773
GeneORC1
is asnp
is mentioned by
dbSNPrs143141689
ebirs143141689
HLIrs143141689
Exacrs143141689
Varsomers143141689
Maprs143141689
PheGenIrs143141689
hapmaprs143141689
1000 genomesrs143141689
hgdprs143141689
ensemblrs143141689
gopubmedrs143141689
geneviewrs143141689
scholarrs143141689
googlers143141689
pharmgkbrs143141689
gwascentralrs143141689
openSNPrs143141689
23andMers143141689
23andMe allrs143141689
SNP Nexus

SNPshotrs143141689
SNPdbers143141689
MSV3drs143141689
GWAS Ctlgrs143141689
Max Magnitude0
ClinVar
Risk rs143141689(T;T)
Alt rs143141689(T;T)
Reference rs143141689(C;C)
Significance Pathogenic
Disease Meier-Gorlin syndrome 1
Variation info
Gene ORC1
CLNDBN Meier-Gorlin syndrome 1
Reversed 0
HGVS NC_000001.10:g.52863445C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023156.3,