rs749523755

Orientation

plus

Stabilized

plus

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

Make rs749523755(A;T)

Make rs749523755(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

5

Position

37157810

Gene

C5orf42

is a	snp
is	mentioned by
dbSNP	rs749523755
dbSNP (classic)	rs749523755
ClinGen	rs749523755
ebi	rs749523755
HLI	rs749523755
Exac	rs749523755
Gnomad	rs749523755
Varsome	rs749523755
LitVar	rs749523755
Map	rs749523755
PheGenI	rs749523755
Biobank	rs749523755
1000 genomes	rs749523755
hgdp	rs749523755
ensembl	rs749523755
geneview	rs749523755
scholar	rs749523755
google	rs749523755
pharmgkb	rs749523755
gwascentral	rs749523755
openSNP	rs749523755
23andMe	rs749523755
SNPshot	rs749523755
SNPdbe	rs749523755
MSV3d	rs749523755
GWAS Ctlg	rs749523755

Max Magnitude

0

ClinVar
Risk	rs749523755(T;T)
Alt	rs749523755(T;T)
Reference	Rs749523755(A;A)
Significance	Pathogenic
Disease	Joubert syndrome 17 not provided Global developmental delay Jaundice
Variation	info
Gene	C5orf42
CLNDBN	Joubert syndrome 17 not provided Global developmental delay Jaundice
Reversed	0
HGVS	NC_000005.9:g.37157912A>T
CLNSRC
CLNACC	RCV000201773.1, RCV000255254.1, RCV000415153.1,