rs397514467

Orientation

minus

Stabilized

minus

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

Make rs397514467(A;C)

Make rs397514467(C;C)

Reference

GRCh38 38.1/141

Chromosome

5

Position

58976421

Gene

PDE4D

is a	snp
is	mentioned by
dbSNP	rs397514467
dbSNP (classic)	rs397514467
ClinGen	rs397514467
ebi	rs397514467
HLI	rs397514467
Exac	rs397514467
Gnomad	rs397514467
Varsome	rs397514467
LitVar	rs397514467
Map	rs397514467
PheGenI	rs397514467
Biobank	rs397514467
1000 genomes	rs397514467
hgdp	rs397514467
ensembl	rs397514467
geneview	rs397514467
scholar	rs397514467
google	rs397514467
pharmgkb	rs397514467
gwascentral	rs397514467
openSNP	rs397514467
23andMe	rs397514467
SNPshot	rs397514467
SNPdbe	rs397514467
MSV3d	rs397514467
GWAS Ctlg	rs397514467

Max Magnitude

0

ClinVar
Risk	rs397514467(C;C)
Alt	rs397514467(C;C)
Reference	Rs397514467(A;A)
Significance	Pathogenic
Disease	Acrodysostosis 2
Variation	info
Gene	PDE4D
CLNDBN	Acrodysostosis 2, with or without hormone resistance
Reversed	1
HGVS	NC_000005.9:g.58272248T>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000022938.3,