rs730882217

Orientation

minus

Stabilized

minus

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

Make rs730882217(-;-)

Make rs730882217(-;GA)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

37153962

Gene

C5orf42

is a	snp
is	mentioned by
dbSNP	rs730882217
dbSNP (classic)	rs730882217
ClinGen	rs730882217
ebi	rs730882217
HLI	rs730882217
Exac	rs730882217
Gnomad	rs730882217
Varsome	rs730882217
LitVar	rs730882217
Map	rs730882217
PheGenI	rs730882217
Biobank	rs730882217
1000 genomes	rs730882217
hgdp	rs730882217
ensembl	rs730882217
geneview	rs730882217
scholar	rs730882217
google	rs730882217
pharmgkb	rs730882217
gwascentral	rs730882217
openSNP	rs730882217
23andMe	rs730882217
SNPshot	rs730882217
SNPdbe	rs730882217
MSV3d	rs730882217
GWAS Ctlg	rs730882217

Max Magnitude

0

ClinVar
Risk	rs730882217(-;-)
Alt	rs730882217(-;-)
Reference	Rs730882217(GA;GA)
Significance	Pathogenic
Disease	Global developmental delay Typical Joubert syndrome MRI findings Joubert syndrome 17 not provided
Variation	info
Gene	C5orf42
CLNDBN	Global developmental delay Typical Joubert syndrome MRI findings Joubert syndrome 17 not provided
Reversed	1
HGVS	NC_000005.9:g.37154064_37154065delTC
CLNSRC
CLNACC	RCV000162127.1, RCV000201763.1, RCV000375310.1,