rs147416429

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs147416429(A;A)

Make rs147416429(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

5

Position

37153973

Gene

C5orf42

is a	snp
is	mentioned by
dbSNP	rs147416429
dbSNP (classic)	rs147416429
ClinGen	rs147416429
ebi	rs147416429
HLI	rs147416429
Exac	rs147416429
Gnomad	rs147416429
Varsome	rs147416429
LitVar	rs147416429
Map	rs147416429
PheGenI	rs147416429
Biobank	rs147416429
1000 genomes	rs147416429
hgdp	rs147416429
ensembl	rs147416429
geneview	rs147416429
scholar	rs147416429
google	rs147416429
pharmgkb	rs147416429
gwascentral	rs147416429
openSNP	rs147416429
23andMe	rs147416429
SNPshot	rs147416429
SNPdbe	rs147416429
MSV3d	rs147416429
GWAS Ctlg	rs147416429

Max Magnitude

0

ClinVar
Risk	rs147416429(A;A)
Alt	rs147416429(A;A)
Reference	Rs147416429(G;G)
Significance	Pathogenic
Disease	Joubert syndrome 17
Variation	info
Gene	C5orf42
CLNDBN	Joubert syndrome 17
Reversed	0
HGVS	NC_000005.9:g.37154075G>A
CLNSRC
CLNACC	RCV000201628.1,