rs387906744

Orientation

minus

Stabilized

minus

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

Make rs387906744(A;C)

Make rs387906744(C;C)

Reference

GRCh38 38.1/141

Chromosome

5

Position

58975718

Gene

PDE4D

is a	snp
is	mentioned by
dbSNP	rs387906744
dbSNP (classic)	rs387906744
ClinGen	rs387906744
ebi	rs387906744
HLI	rs387906744
Exac	rs387906744
Gnomad	rs387906744
Varsome	rs387906744
LitVar	rs387906744
Map	rs387906744
PheGenI	rs387906744
Biobank	rs387906744
1000 genomes	rs387906744
hgdp	rs387906744
ensembl	rs387906744
geneview	rs387906744
scholar	rs387906744
google	rs387906744
pharmgkb	rs387906744
gwascentral	rs387906744
openSNP	rs387906744
23andMe	rs387906744
SNPshot	rs387906744
SNPdbe	rs387906744
MSV3d	rs387906744
GWAS Ctlg	rs387906744

Max Magnitude

0

ClinVar
Risk	rs387906744(C;C)
Alt	rs387906744(C;C)
Reference	Rs387906744(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.58271545T>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000022940.4,