rs587784325

Orientation

plus

Stabilized

plus

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

Make rs587784325(C;T)

Make rs587784325(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

68293187

Gene

PIK3R1

is a	snp
is	mentioned by
dbSNP	rs587784325
dbSNP (classic)	rs587784325
ClinGen	rs587784325
ebi	rs587784325
HLI	rs587784325
Exac	rs587784325
Gnomad	rs587784325
Varsome	rs587784325
LitVar	rs587784325
Map	rs587784325
PheGenI	rs587784325
Biobank	rs587784325
1000 genomes	rs587784325
hgdp	rs587784325
ensembl	rs587784325
geneview	rs587784325
scholar	rs587784325
google	rs587784325
pharmgkb	rs587784325
gwascentral	rs587784325
openSNP	rs587784325
23andMe	rs587784325
SNPshot	rs587784325
SNPdbe	rs587784325
MSV3d	rs587784325
GWAS Ctlg	rs587784325

Max Magnitude

0

ClinVar
Risk	rs587784325(T;T)
Alt	rs587784325(T;T)
Reference	Rs587784325(C;C)
Significance	Probable-Pathogenic
Disease	SHORT syndrome
Variation	info
Gene	PIK3R1
CLNDBN	SHORT syndrome
Reversed	0
HGVS	NC_000005.9:g.67589015C>T
CLNSRC
CLNACC	RCV000147273.1,