rs1057517695

Orientation

plus

Stabilized

plus

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

Make rs1057517695(-;-)

Make rs1057517695(-;T)

Reference

GRCh38.p7 38.3/150

Chromosome

9

Position

78241730

Gene

CEP78

is a	snp
is	mentioned by
dbSNP	rs1057517695
dbSNP (classic)	rs1057517695
ClinGen	rs1057517695
ebi	rs1057517695
HLI	rs1057517695
Exac	rs1057517695
Gnomad	rs1057517695
Varsome	rs1057517695
LitVar	rs1057517695
Map	rs1057517695
PheGenI	rs1057517695
Biobank	rs1057517695
1000 genomes	rs1057517695
hgdp	rs1057517695
ensembl	rs1057517695
geneview	rs1057517695
scholar	rs1057517695
google	rs1057517695
pharmgkb	rs1057517695
gwascentral	rs1057517695
openSNP	rs1057517695
23andMe	rs1057517695
SNPshot	rs1057517695
SNPdbe	rs1057517695
MSV3d	rs1057517695
GWAS Ctlg	rs1057517695

Max Magnitude

0

ClinVar
Risk	rs1057517695(-;-)
Alt	rs1057517695(-;-)
Reference	Rs1057517695(T;T)
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.80856646delT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000412648.1,