rs397517452

Orientation

minus

Stabilized

minus

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

Make rs397517452(A;G)

Make rs397517452(G;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

54079426

Gene

PCDH15

is a	snp
is	mentioned by
dbSNP	rs397517452
dbSNP (classic)	rs397517452
ClinGen	rs397517452
ebi	rs397517452
HLI	rs397517452
Exac	rs397517452
Gnomad	rs397517452
Varsome	rs397517452
LitVar	rs397517452
Map	rs397517452
PheGenI	rs397517452
Biobank	rs397517452
1000 genomes	rs397517452
hgdp	rs397517452
ensembl	rs397517452
geneview	rs397517452
scholar	rs397517452
google	rs397517452
pharmgkb	rs397517452
gwascentral	rs397517452
openSNP	rs397517452
23andMe	rs397517452
SNPshot	rs397517452
SNPdbe	rs397517452
MSV3d	rs397517452
GWAS Ctlg	rs397517452

Max Magnitude

0

ClinVar
Risk	rs397517452(G;G)
Alt	rs397517452(G;G)
Reference	Rs397517452(A;A)
Significance	Pathogenic
Disease	Usher syndrome
Variation	info
Gene	PCDH15
CLNDBN	Usher syndrome, type 1F
Reversed	1
HGVS	NC_000010.10:g.55839186T>C
CLNSRC	ClinVar
CLNACC	RCV000039708.2,