rs146795505

plus

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

Reference

GRCh38.p7 38.3/149

Chromosome

16

Position

46689707

Gene	ORC6, VPS35

is a	snp
is	mentioned by
dbSNP	rs146795505
dbSNP (classic)	rs146795505
ClinGen	rs146795505
ebi	rs146795505
HLI	rs146795505
Exac	rs146795505
Gnomad	rs146795505
Varsome	rs146795505
LitVar	rs146795505
Map	rs146795505
PheGenI	rs146795505
Biobank	rs146795505
1000 genomes	rs146795505
hgdp	rs146795505
ensembl	rs146795505
geneview	rs146795505
scholar	rs146795505
google	rs146795505
pharmgkb	rs146795505
gwascentral	rs146795505
openSNP	rs146795505
23andMe	rs146795505
SNPshot	rs146795505
SNPdbe	rs146795505
MSV3d	rs146795505
GWAS Ctlg	rs146795505

Max Magnitude

7.5

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,