rs1057517251

Orientation

minus

Stabilized

minus

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

Make rs1057517251(C;G)

Make rs1057517251(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

10

Position

54153147

Gene

PCDH15

is a	snp
is	mentioned by
dbSNP	rs1057517251
dbSNP (classic)	rs1057517251
ClinGen	rs1057517251
ebi	rs1057517251
HLI	rs1057517251
Exac	rs1057517251
Gnomad	rs1057517251
Varsome	rs1057517251
LitVar	rs1057517251
Map	rs1057517251
PheGenI	rs1057517251
Biobank	rs1057517251
1000 genomes	rs1057517251
hgdp	rs1057517251
ensembl	rs1057517251
geneview	rs1057517251
scholar	rs1057517251
google	rs1057517251
pharmgkb	rs1057517251
gwascentral	rs1057517251
openSNP	rs1057517251
23andMe	rs1057517251
SNPshot	rs1057517251
SNPdbe	rs1057517251
MSV3d	rs1057517251
GWAS Ctlg	rs1057517251

Max Magnitude

0

ClinVar
Risk	rs1057517251(G;G)
Alt	rs1057517251(G;G)
Reference	Rs1057517251(C;C)
Significance	Probable-Pathogenic
Disease	Usher syndrome
Variation	info
Gene	PCDH15
CLNDBN	Usher syndrome, type 1F
Reversed	1
HGVS	NC_000010.10:g.55912907G>C
CLNSRC
CLNACC	RCV000410287.1,