rs34394958

Orientation

minus

Stabilized

minus

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

Make rs34394958(C;C)

Make rs34394958(C;T)

Reference

GRCh38.p2 38.2/146

Chromosome

3

Position

149177867

Gene

CP

is a	snp
is	mentioned by
dbSNP	rs34394958
dbSNP (classic)	rs34394958
ClinGen	rs34394958
ebi	rs34394958
HLI	rs34394958
Exac	rs34394958
Gnomad	rs34394958
Varsome	rs34394958
LitVar	rs34394958
Map	rs34394958
PheGenI	rs34394958
Biobank	rs34394958
1000 genomes	rs34394958
hgdp	rs34394958
ensembl	rs34394958
geneview	rs34394958
scholar	rs34394958
google	rs34394958
pharmgkb	rs34394958
gwascentral	rs34394958
openSNP	rs34394958
23andMe	rs34394958
SNPshot	rs34394958
SNPdbe	rs34394958
MSV3d	rs34394958
GWAS Ctlg	rs34394958

Max Magnitude

0

ClinVar
Risk	rs34394958(C;C) rs34394958(G;G)
Alt	rs34394958(C;C) rs34394958(G;G)
Reference	Rs34394958(T;T)
Significance	Pathogenic
Disease	Deficiency of ferroxidase not specified Hermansky-Pudlak syndrome
Variation	info
Gene	CP
CLNDBN	Deficiency of ferroxidase not specified Hermansky-Pudlak syndrome
Reversed	1
HGVS	NC_000003.11:g.148895654A>C; NC_000003.11:g.148895654A>G
CLNSRC
CLNACC	RCV000201933.1, RCV000116821.2, RCV000280356.1, RCV000284071.1,