rs797044948

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;G)	4.4	Reported to be an inborn genetic disease (of unspecified type)

Make rs797044948(G;G)

Reference

GRCh38.p2 38.2/146

Chromosome

16

Position

46671766

Gene

VPS35

is a	snp
is	mentioned by
dbSNP	rs797044948
dbSNP (classic)	rs797044948
ClinGen	rs797044948
ebi	rs797044948
HLI	rs797044948
Exac	rs797044948
Gnomad	rs797044948
Varsome	rs797044948
LitVar	rs797044948
Map	rs797044948
PheGenI	rs797044948
Biobank	rs797044948
1000 genomes	rs797044948
hgdp	rs797044948
ensembl	rs797044948
geneview	rs797044948
scholar	rs797044948
google	rs797044948
pharmgkb	rs797044948
gwascentral	rs797044948
openSNP	rs797044948
23andMe	rs797044948
SNPshot	rs797044948
SNPdbe	rs797044948
MSV3d	rs797044948
GWAS Ctlg	rs797044948

Max Magnitude

4.4

c.1463A>G (p.Gln488Arg)

Reported as a disease causing mutation in ClinVar, however, only as an unspecified "inborn genetic disease", with autosomal dominant inheritance.

ClinVar
Risk	rs797044948(G;G)
Alt	rs797044948(G;G)
Reference	Rs797044948(A;A)
Significance	Pathogenic
Disease	Inborn genetic diseases
Variation	info
Gene	VPS35
CLNDBN	Inborn genetic diseases
Reversed	1
HGVS	NC_000016.9:g.46705678T>C
CLNSRC
CLNACC	RCV000190799.1,