rs397514046

Orientation

plus

Stabilized

plus

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

Make rs397514046(-;-)

Make rs397514046(-;ATT)

Reference

GRCh38 38.1/141

Chromosome

5

Position

68295194

Gene

PIK3R1

is a	snp
is	mentioned by
dbSNP	rs397514046
dbSNP (classic)	rs397514046
ClinGen	rs397514046
ebi	rs397514046
HLI	rs397514046
Exac	rs397514046
Gnomad	rs397514046
Varsome	rs397514046
LitVar	rs397514046
Map	rs397514046
PheGenI	rs397514046
Biobank	rs397514046
1000 genomes	rs397514046
hgdp	rs397514046
ensembl	rs397514046
geneview	rs397514046
scholar	rs397514046
google	rs397514046
pharmgkb	rs397514046
gwascentral	rs397514046
openSNP	rs397514046
23andMe	rs397514046
SNPshot	rs397514046
SNPdbe	rs397514046
MSV3d	rs397514046
GWAS Ctlg	rs397514046

Max Magnitude

0

ClinVar
Risk	rs397514046(-;-)
Alt	rs397514046(-;-)
Reference	Rs397514046(ATT;ATT)
Significance	Pathogenic
Disease	SHORT syndrome
Variation	info
Gene	PIK3R1
CLNDBN	SHORT syndrome
Reversed	0
HGVS	NC_000005.9:g.67591022_67591024delATT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000054532.23,