rs372347027

Orientation

plus

Stabilized

plus

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

Make rs372347027(C;C)

Make rs372347027(C;T)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

215867179

Gene

USH2A

is a	snp
is	mentioned by
dbSNP	rs372347027
dbSNP (classic)	rs372347027
ClinGen	rs372347027
ebi	rs372347027
HLI	rs372347027
Exac	rs372347027
Gnomad	rs372347027
Varsome	rs372347027
LitVar	rs372347027
Map	rs372347027
PheGenI	rs372347027
Biobank	rs372347027
1000 genomes	rs372347027
hgdp	rs372347027
ensembl	rs372347027
geneview	rs372347027
scholar	rs372347027
google	rs372347027
pharmgkb	rs372347027
gwascentral	rs372347027
openSNP	rs372347027
23andMe	rs372347027
SNPshot	rs372347027
SNPdbe	rs372347027
MSV3d	rs372347027
GWAS Ctlg	rs372347027

Max Magnitude

0

ClinVar
Risk	rs372347027(C;C)
Alt	rs372347027(C;C)
Reference	Rs372347027(T;T)
Significance	Probable-Pathogenic
Disease	Retinitis pigmentosa 39 Usher syndrome not provided
Variation	info
Gene	USH2A
CLNDBN	Retinitis pigmentosa 39 Usher syndrome, type 2A not provided
Reversed	0
HGVS	NC_000001.10:g.216040521T>C
CLNSRC
CLNACC	RCV000178560.1, RCV000178561.1, RCV000255827.1,