rs397515433

Orientation

minus

Stabilized

minus

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

Make rs397515433(C;T)

Make rs397515433(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

59038869

Gene

PDE4D

is a	snp
is	mentioned by
dbSNP	rs397515433
dbSNP (classic)	rs397515433
ClinGen	rs397515433
ebi	rs397515433
HLI	rs397515433
Exac	rs397515433
Gnomad	rs397515433
Varsome	rs397515433
LitVar	rs397515433
Map	rs397515433
PheGenI	rs397515433
Biobank	rs397515433
1000 genomes	rs397515433
hgdp	rs397515433
ensembl	rs397515433
geneview	rs397515433
scholar	rs397515433
google	rs397515433
pharmgkb	rs397515433
gwascentral	rs397515433
openSNP	rs397515433
23andMe	rs397515433
SNPshot	rs397515433
SNPdbe	rs397515433
MSV3d	rs397515433
GWAS Ctlg	rs397515433

Max Magnitude

0

ClinVar
Risk	rs397515433(T;T)
Alt	rs397515433(T;T)
Reference	Rs397515433(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.58334696G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000033154.5,