rs1057516342

Orientation

minus

Stabilized

minus

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

Make rs1057516342(C;T)

Make rs1057516342(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

10

Position

53995732

Gene

PCDH15

is a	snp
is	mentioned by
dbSNP	rs1057516342
dbSNP (classic)	rs1057516342
ClinGen	rs1057516342
ebi	rs1057516342
HLI	rs1057516342
Exac	rs1057516342
Gnomad	rs1057516342
Varsome	rs1057516342
LitVar	rs1057516342
Map	rs1057516342
PheGenI	rs1057516342
Biobank	rs1057516342
1000 genomes	rs1057516342
hgdp	rs1057516342
ensembl	rs1057516342
geneview	rs1057516342
scholar	rs1057516342
google	rs1057516342
pharmgkb	rs1057516342
gwascentral	rs1057516342
openSNP	rs1057516342
23andMe	rs1057516342
SNPshot	rs1057516342
SNPdbe	rs1057516342
MSV3d	rs1057516342
GWAS Ctlg	rs1057516342

Max Magnitude

0

ClinVar
Risk	rs1057516342(T;T)
Alt	rs1057516342(T;T)
Reference	Rs1057516342(C;C)
Significance	Probable-Pathogenic
Disease	Usher syndrome
Variation	info
Gene	PCDH15
CLNDBN	Usher syndrome, type 1F
Reversed	1
HGVS	NC_000010.10:g.55755492G>A
CLNSRC
CLNACC	RCV000412338.1,