rs587777653

Orientation

plus

Stabilized

plus

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

Make rs587777653(A;A)

Make rs587777653(A;G)

Reference

GRCh38 38.1/142

Chromosome

11

Position

74168485

Gene

C2CD3

is a	snp
is	mentioned by
dbSNP	rs587777653
dbSNP (classic)	rs587777653
ClinGen	rs587777653
ebi	rs587777653
HLI	rs587777653
Exac	rs587777653
Gnomad	rs587777653
Varsome	rs587777653
LitVar	rs587777653
Map	rs587777653
PheGenI	rs587777653
Biobank	rs587777653
1000 genomes	rs587777653
hgdp	rs587777653
ensembl	rs587777653
geneview	rs587777653
scholar	rs587777653
google	rs587777653
pharmgkb	rs587777653
gwascentral	rs587777653
openSNP	rs587777653
23andMe	rs587777653
SNPshot	rs587777653
SNPdbe	rs587777653
MSV3d	rs587777653
GWAS Ctlg	rs587777653

Max Magnitude

0

ClinVar
Risk	rs587777653(A;A)
Alt	rs587777653(A;A)
Reference	Rs587777653(G;G)
Significance	Pathogenic
Disease	Orofaciodigital syndrome xiv Joubert syndrome
Variation	info
Gene	C2CD3
CLNDBN	Orofaciodigital syndrome xiv Joubert syndrome
Reversed	0
HGVS	NC_000011.9:g.73879530G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000133545.3, RCV000201616.1,