rs1085307448

Orientation

plus

Stabilized

plus

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

Chromosome

5

Position

64885506

Gene

CWC27

is a	snp
is	mentioned by
dbSNP	rs1085307448
dbSNP (classic)	rs1085307448
ClinGen	rs1085307448
ebi	rs1085307448
HLI	rs1085307448
Exac	rs1085307448
Gnomad	rs1085307448
Varsome	rs1085307448
LitVar	rs1085307448
Map	rs1085307448
PheGenI	rs1085307448
Biobank	rs1085307448
1000 genomes	rs1085307448
hgdp	rs1085307448
ensembl	rs1085307448
geneview	rs1085307448
scholar	rs1085307448
google	rs1085307448
pharmgkb	rs1085307448
gwascentral	rs1085307448
openSNP	rs1085307448
23andMe	rs1085307448
SNPshot	rs1085307448
SNPdbe	rs1085307448
MSV3d	rs1085307448
GWAS Ctlg	rs1085307448

Max Magnitude

0

ClinVar
Risk	rs1085307448(A;A)
Alt	rs1085307448(A;A)
Reference	Rs1085307448(-;-)
Significance	Pathogenic
Disease	Retinitis pigmentosa with or without skeletal anomalies
Variation	info
Gene	CWC27
CLNDBN	Retinitis pigmentosa with or without skeletal anomalies
Reversed	0
HGVS	NC_000005.9:g.64181333dup
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000488875.1,