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rs146795505

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 7.5 Meier-Gorlin syndrome 3
(C;T) 3 Carrier of a pathogenic mutation for Meier-Gorlin syndrome 3
(T;T) 0 common/normal
ReferenceGRCh38.p7 38.3/149
Chromosome16
Position46689707
GeneORC6, VPS35
is asnp
is mentioned by
dbSNPrs146795505
dbSNP (old)rs146795505
ClinGenrs146795505
ebirs146795505
HLIrs146795505
Exacrs146795505
Gnomadrs146795505
Varsomers146795505
LitVarrs146795505
Maprs146795505
PheGenIrs146795505
Biobankrs146795505
1000 genomesrs146795505
hgdprs146795505
ensemblrs146795505
gopubmedrs146795505
geneviewrs146795505
scholarrs146795505
googlers146795505
pharmgkbrs146795505
gwascentralrs146795505
openSNPrs146795505
23andMers146795505
23andMe allrs146795505
SNPshotrs146795505
SNPdbers146795505
MSV3drs146795505
GWAS Ctlgrs146795505
Max Magnitude7.5

ORC6 gene, c.2T>C (p.Met1Thr)

The minor allele is reported in ClinVar as pathogenic for Meier-Gorlin syndrome 3, apparently based on a single report; the condition is normally recessively inherited.

ClinVar
Risk Rs146795505(C;C)
Alt Rs146795505(C;C)
Reference Rs146795505(T;T)
Significance Pathogenic
Disease Meier-Gorlin syndrome 3
Variation info
Gene VPS35 ORC6
CLNDBN Meier-Gorlin syndrome 3
Reversed 0
HGVS NC_000016.9:g.46723619T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000239616.2,