rs397514465

Orientation

minus

Stabilized

minus

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

Make rs397514465(C;C)

Make rs397514465(C;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

59193507

Gene

PDE4D

is a	snp
is	mentioned by
dbSNP	rs397514465
dbSNP (classic)	rs397514465
ClinGen	rs397514465
ebi	rs397514465
HLI	rs397514465
Exac	rs397514465
Gnomad	rs397514465
Varsome	rs397514465
LitVar	rs397514465
Map	rs397514465
PheGenI	rs397514465
Biobank	rs397514465
1000 genomes	rs397514465
hgdp	rs397514465
ensembl	rs397514465
geneview	rs397514465
scholar	rs397514465
google	rs397514465
pharmgkb	rs397514465
gwascentral	rs397514465
openSNP	rs397514465
23andMe	rs397514465
SNPshot	rs397514465
SNPdbe	rs397514465
MSV3d	rs397514465
GWAS Ctlg	rs397514465

Max Magnitude

0

ClinVar
Risk	rs397514465(C;C) rs397514465(G;G)
Alt	rs397514465(C;C) rs397514465(G;G)
Reference	Rs397514465(T;T)
Significance	Pathogenic
Disease	Acrodysostosis 2
Variation	info
Gene	PDE4D
CLNDBN	Acrodysostosis 2, with or without hormone resistance
Reversed	1
HGVS	NC_000005.9:g.58489333A>C; NC_000005.9:g.58489333A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000087310.3, RCV000022936.3,