rs397514466

Orientation

minus

Stabilized

minus

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

Make rs397514466(G;G)

Make rs397514466(G;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

59215856

Gene

PDE4D

is a	snp
is	mentioned by
dbSNP	rs397514466
dbSNP (classic)	rs397514466
ClinGen	rs397514466
ebi	rs397514466
HLI	rs397514466
Exac	rs397514466
Gnomad	rs397514466
Varsome	rs397514466
LitVar	rs397514466
Map	rs397514466
PheGenI	rs397514466
Biobank	rs397514466
1000 genomes	rs397514466
hgdp	rs397514466
ensembl	rs397514466
geneview	rs397514466
scholar	rs397514466
google	rs397514466
pharmgkb	rs397514466
gwascentral	rs397514466
openSNP	rs397514466
23andMe	rs397514466
SNPshot	rs397514466
SNPdbe	rs397514466
MSV3d	rs397514466
GWAS Ctlg	rs397514466

Max Magnitude

0

ClinVar
Risk	rs397514466(G;G)
Alt	rs397514466(G;G)
Reference	Rs397514466(T;T)
Significance	Pathogenic
Disease	Acrodysostosis 2
Variation	info
Gene	PDE4D
CLNDBN	Acrodysostosis 2, with or without hormone resistance
Reversed	1
HGVS	NC_000005.9:g.58511682A>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000022937.3,