rs775263897

Orientation

plus

Stabilized

plus

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

Make rs775263897(-;C)

Make rs775263897(C;C)

Reference

GRCh38.p2 38.2/146

Chromosome

5

Position

37148216

Gene

C5orf42

is a	snp
is	mentioned by
dbSNP	rs775263897
dbSNP (classic)	rs775263897
ClinGen	rs775263897
ebi	rs775263897
HLI	rs775263897
Exac	rs775263897
Gnomad	rs775263897
Varsome	rs775263897
LitVar	rs775263897
Map	rs775263897
PheGenI	rs775263897
Biobank	rs775263897
1000 genomes	rs775263897
hgdp	rs775263897
ensembl	rs775263897
geneview	rs775263897
scholar	rs775263897
google	rs775263897
pharmgkb	rs775263897
gwascentral	rs775263897
openSNP	rs775263897
23andMe	rs775263897
SNPshot	rs775263897
SNPdbe	rs775263897
MSV3d	rs775263897
GWAS Ctlg	rs775263897

Max Magnitude

0

ClinVar
Risk	rs775263897(C;C) rs775263897(T;T)
Alt	rs775263897(C;C) rs775263897(T;T)
Reference	Rs775263897(-;-)
Significance	Pathogenic
Disease	Joubert syndrome 17 Global developmental delay Jaundice
Variation	info
Gene	C5orf42
CLNDBN	Joubert syndrome 17 Global developmental delay Jaundice
Reversed	0
HGVS	NC_000005.9:g.37148318_37148319insC; NC_000005.9:g.37148319dupT
CLNSRC
CLNACC	RCV000201534.1, RCV000201730.1, RCV000415331.1,