rs1057517694

Orientation

plus

Stabilized

plus

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

Make rs1057517694(A;A)

Make rs1057517694(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

9

Position

78248290

Gene

CEP78

is a	snp
is	mentioned by
dbSNP	rs1057517694
dbSNP (classic)	rs1057517694
ClinGen	rs1057517694
ebi	rs1057517694
HLI	rs1057517694
Exac	rs1057517694
Gnomad	rs1057517694
Varsome	rs1057517694
LitVar	rs1057517694
Map	rs1057517694
PheGenI	rs1057517694
Biobank	rs1057517694
1000 genomes	rs1057517694
hgdp	rs1057517694
ensembl	rs1057517694
geneview	rs1057517694
scholar	rs1057517694
google	rs1057517694
pharmgkb	rs1057517694
gwascentral	rs1057517694
openSNP	rs1057517694
23andMe	rs1057517694
SNPshot	rs1057517694
SNPdbe	rs1057517694
MSV3d	rs1057517694
GWAS Ctlg	rs1057517694

Max Magnitude

0

ClinVar
Risk	rs1057517694(A;A)
Alt	rs1057517694(A;A)
Reference	Rs1057517694(G;G)
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.80863206G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000412597.2,