rs139444207

Orientation

plus

Stabilized

plus

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

Make rs139444207(G;T)

Make rs139444207(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

5

Position

149895206

Gene

PDE6A

is a	snp
is	mentioned by
dbSNP	rs139444207
dbSNP (classic)	rs139444207
ClinGen	rs139444207
ebi	rs139444207
HLI	rs139444207
Exac	rs139444207
Gnomad	rs139444207
Varsome	rs139444207
LitVar	rs139444207
Map	rs139444207
PheGenI	rs139444207
Biobank	rs139444207
1000 genomes	rs139444207
hgdp	rs139444207
ensembl	rs139444207
geneview	rs139444207
scholar	rs139444207
google	rs139444207
pharmgkb	rs139444207
gwascentral	rs139444207
openSNP	rs139444207
23andMe	rs139444207
SNPshot	rs139444207
SNPdbe	rs139444207
MSV3d	rs139444207
GWAS Ctlg	rs139444207

Max Magnitude

0

ClinVar
Risk	rs139444207(T;T)
Alt	rs139444207(T;T)
Reference	Rs139444207(G;G)
Significance	Probable-Pathogenic
Disease	not specified Retinitis Pigmentosa
Variation	info
Gene	PDE6A
CLNDBN	not specified Retinitis Pigmentosa, Recessive
Reversed	0
HGVS	NC_000005.9:g.149274769G>T
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000153658.3, RCV000292173.1,