rs1057517691

Orientation

plus

Stabilized

plus

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

Make rs1057517691(G;T)

Make rs1057517691(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

9

Position

78240365

Gene

CEP78

is a	snp
is	mentioned by
dbSNP	rs1057517691
dbSNP (classic)	rs1057517691
ClinGen	rs1057517691
ebi	rs1057517691
HLI	rs1057517691
Exac	rs1057517691
Gnomad	rs1057517691
Varsome	rs1057517691
LitVar	rs1057517691
Map	rs1057517691
PheGenI	rs1057517691
Biobank	rs1057517691
1000 genomes	rs1057517691
hgdp	rs1057517691
ensembl	rs1057517691
geneview	rs1057517691
scholar	rs1057517691
google	rs1057517691
pharmgkb	rs1057517691
gwascentral	rs1057517691
openSNP	rs1057517691
23andMe	rs1057517691
SNPshot	rs1057517691
SNPdbe	rs1057517691
MSV3d	rs1057517691
GWAS Ctlg	rs1057517691

Max Magnitude

0

ClinVar
Risk	rs1057517691(T;T)
Alt	rs1057517691(T;T)
Reference	Rs1057517691(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.80855281G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000412585.2,