rs1057516613

Orientation

minus

Stabilized

minus

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

Make rs1057516613(A;A)

Make rs1057516613(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

10

Position

53827392

Gene

PCDH15

is a	snp
is	mentioned by
dbSNP	rs1057516613
dbSNP (classic)	rs1057516613
ClinGen	rs1057516613
ebi	rs1057516613
HLI	rs1057516613
Exac	rs1057516613
Gnomad	rs1057516613
Varsome	rs1057516613
LitVar	rs1057516613
Map	rs1057516613
PheGenI	rs1057516613
Biobank	rs1057516613
1000 genomes	rs1057516613
hgdp	rs1057516613
ensembl	rs1057516613
geneview	rs1057516613
scholar	rs1057516613
google	rs1057516613
pharmgkb	rs1057516613
gwascentral	rs1057516613
openSNP	rs1057516613
23andMe	rs1057516613
SNPshot	rs1057516613
SNPdbe	rs1057516613
MSV3d	rs1057516613
GWAS Ctlg	rs1057516613

Max Magnitude

0

ClinVar
Risk	rs1057516613(A;A)
Alt	rs1057516613(A;A)
Reference	Rs1057516613(G;G)
Significance	Probable-Pathogenic
Disease	Usher syndrome
Variation	info
Gene	PCDH15
CLNDBN	Usher syndrome, type 1F
Reversed	1
HGVS	NC_000010.10:g.55587152C>T
CLNSRC
CLNACC	RCV000410301.1,