rs397514468

Orientation

minus

Stabilized

minus

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

Make rs397514468(C;G)

Make rs397514468(G;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

59193502

Gene

PDE4D

is a	snp
is	mentioned by
dbSNP	rs397514468
dbSNP (classic)	rs397514468
ClinGen	rs397514468
ebi	rs397514468
HLI	rs397514468
Exac	rs397514468
Gnomad	rs397514468
Varsome	rs397514468
LitVar	rs397514468
Map	rs397514468
PheGenI	rs397514468
Biobank	rs397514468
1000 genomes	rs397514468
hgdp	rs397514468
ensembl	rs397514468
geneview	rs397514468
scholar	rs397514468
google	rs397514468
pharmgkb	rs397514468
gwascentral	rs397514468
openSNP	rs397514468
23andMe	rs397514468
SNPshot	rs397514468
SNPdbe	rs397514468
MSV3d	rs397514468
GWAS Ctlg	rs397514468

Max Magnitude

0

ClinVar
Risk	rs397514468(G;G)
Alt	rs397514468(G;G)
Reference	Rs397514468(C;C)
Significance	Pathogenic
Disease	Acrodysostosis 2
Variation	info
Gene	PDE4D
CLNDBN	Acrodysostosis 2, with or without hormone resistance
Reversed	1
HGVS	NC_000005.9:g.58489328G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000022939.5,