rs397514464

Orientation

minus

Stabilized

minus

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

Make rs397514464(A;A)

Make rs397514464(A;C)

Reference

GRCh38 38.1/141

Chromosome

5

Position

59193511

Gene

PDE4D

is a	snp
is	mentioned by
dbSNP	rs397514464
dbSNP (classic)	rs397514464
ClinGen	rs397514464
ebi	rs397514464
HLI	rs397514464
Exac	rs397514464
Gnomad	rs397514464
Varsome	rs397514464
LitVar	rs397514464
Map	rs397514464
PheGenI	rs397514464
Biobank	rs397514464
1000 genomes	rs397514464
hgdp	rs397514464
ensembl	rs397514464
geneview	rs397514464
scholar	rs397514464
google	rs397514464
pharmgkb	rs397514464
gwascentral	rs397514464
openSNP	rs397514464
23andMe	rs397514464
SNPshot	rs397514464
SNPdbe	rs397514464
MSV3d	rs397514464
GWAS Ctlg	rs397514464

Max Magnitude

0

ClinVar
Risk	rs397514464(A;A)
Alt	rs397514464(A;A)
Reference	Rs397514464(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.58489337G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000022935.3,