rs1057517692

Orientation

plus

Stabilized

plus

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

Make rs1057517692(-;-)

Make rs1057517692(-;C)

Reference

GRCh38.p7 38.3/150

Chromosome

9

Position

78243491

Gene

CEP78

is a	snp
is	mentioned by
dbSNP	rs1057517692
dbSNP (classic)	rs1057517692
ClinGen	rs1057517692
ebi	rs1057517692
HLI	rs1057517692
Exac	rs1057517692
Gnomad	rs1057517692
Varsome	rs1057517692
LitVar	rs1057517692
Map	rs1057517692
PheGenI	rs1057517692
Biobank	rs1057517692
1000 genomes	rs1057517692
hgdp	rs1057517692
ensembl	rs1057517692
geneview	rs1057517692
scholar	rs1057517692
google	rs1057517692
pharmgkb	rs1057517692
gwascentral	rs1057517692
openSNP	rs1057517692
23andMe	rs1057517692
SNPshot	rs1057517692
SNPdbe	rs1057517692
MSV3d	rs1057517692
GWAS Ctlg	rs1057517692

Max Magnitude

0

ClinVar
Risk	rs1057517692(-;-)
Alt	rs1057517692(-;-)
Reference	Rs1057517692(C;C)
Significance	Pathogenic
Disease	Cone-rod dystrophy and hearing loss
Variation	info
Gene	CEP78
CLNDBN	Cone-rod dystrophy and hearing loss
Reversed	0
HGVS	NC_000009.11:g.80858407delC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000412668.2,