rs199469706

Orientation

minus

Stabilized

minus

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

Make rs199469706(-;-)

Make rs199469706(-;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

54213948

Gene

PCDH15

is a	snp
is	mentioned by
dbSNP	rs199469706
dbSNP (classic)	rs199469706
ClinGen	rs199469706
ebi	rs199469706
HLI	rs199469706
Exac	rs199469706
Gnomad	rs199469706
Varsome	rs199469706
LitVar	rs199469706
Map	rs199469706
PheGenI	rs199469706
Biobank	rs199469706
1000 genomes	rs199469706
hgdp	rs199469706
ensembl	rs199469706
geneview	rs199469706
scholar	rs199469706
google	rs199469706
pharmgkb	rs199469706
gwascentral	rs199469706
openSNP	rs199469706
23andMe	rs199469706
SNPshot	rs199469706
SNPdbe	rs199469706
MSV3d	rs199469706
GWAS Ctlg	rs199469706

Max Magnitude

0

ClinVar
Risk	rs199469706(-;-)
Alt	rs199469706(-;-)
Reference	Rs199469706(T;T)
Significance	Pathogenic
Disease	Usher syndrome
Variation	info
Gene	PCDH15
CLNDBN	Usher syndrome, type 1F
Reversed	1
HGVS	NC_000010.10:g.55973708delA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005217.2,

[PMID 11487575] Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F.