rs367543062

Orientation

minus

Stabilized

minus

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

Make rs367543062(A;A)

Make rs367543062(A;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

37167046

Gene

C5orf42

is a	snp
is	mentioned by
dbSNP	rs367543062
dbSNP (classic)	rs367543062
ClinGen	rs367543062
ebi	rs367543062
HLI	rs367543062
Exac	rs367543062
Gnomad	rs367543062
Varsome	rs367543062
LitVar	rs367543062
Map	rs367543062
PheGenI	rs367543062
Biobank	rs367543062
1000 genomes	rs367543062
hgdp	rs367543062
ensembl	rs367543062
geneview	rs367543062
scholar	rs367543062
google	rs367543062
pharmgkb	rs367543062
gwascentral	rs367543062
openSNP	rs367543062
23andMe	rs367543062
SNPshot	rs367543062
SNPdbe	rs367543062
MSV3d	rs367543062
GWAS Ctlg	rs367543062

Max Magnitude

0

ClinVar
Risk	rs367543062(A;A)
Alt	rs367543062(A;A)
Reference	Rs367543062(G;G)
Significance	Pathogenic
Disease	Joubert syndrome 17
Variation	info
Gene	C5orf42
CLNDBN	Joubert syndrome 17
Reversed	1
HGVS	NC_000005.9:g.37167148C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000024219.4,

[PMID 22425360] Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.