rs1057517693

Orientation

plus

Stabilized

plus

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

Make rs1057517693(A;A)

Make rs1057517693(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

9

Position

78240369

Gene

CEP78

is a	snp
is	mentioned by
dbSNP	rs1057517693
dbSNP (classic)	rs1057517693
ClinGen	rs1057517693
ebi	rs1057517693
HLI	rs1057517693
Exac	rs1057517693
Gnomad	rs1057517693
Varsome	rs1057517693
LitVar	rs1057517693
Map	rs1057517693
PheGenI	rs1057517693
Biobank	rs1057517693
1000 genomes	rs1057517693
hgdp	rs1057517693
ensembl	rs1057517693
geneview	rs1057517693
scholar	rs1057517693
google	rs1057517693
pharmgkb	rs1057517693
gwascentral	rs1057517693
openSNP	rs1057517693
23andMe	rs1057517693
SNPshot	rs1057517693
SNPdbe	rs1057517693
MSV3d	rs1057517693
GWAS Ctlg	rs1057517693

Max Magnitude

0

ClinVar
Risk	rs1057517693(A;A)
Alt	rs1057517693(A;A)
Reference	Rs1057517693(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.80855285G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000412541.2,