rs397514047

Orientation

plus

Stabilized

plus

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

Make rs397514047(A;A)

Make rs397514047(A;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

68294575

Gene

PIK3R1

is a	snp
is	mentioned by
dbSNP	rs397514047
dbSNP (classic)	rs397514047
ClinGen	rs397514047
ebi	rs397514047
HLI	rs397514047
Exac	rs397514047
Gnomad	rs397514047
Varsome	rs397514047
LitVar	rs397514047
Map	rs397514047
PheGenI	rs397514047
Biobank	rs397514047
1000 genomes	rs397514047
hgdp	rs397514047
ensembl	rs397514047
geneview	rs397514047
scholar	rs397514047
google	rs397514047
pharmgkb	rs397514047
gwascentral	rs397514047
openSNP	rs397514047
23andMe	rs397514047
SNPshot	rs397514047
SNPdbe	rs397514047
MSV3d	rs397514047
GWAS Ctlg	rs397514047

Max Magnitude

0

ClinVar
Risk	rs397514047(A;A)
Alt	rs397514047(A;A)
Reference	Rs397514047(G;G)
Significance	Pathogenic
Disease	SHORT syndrome
Variation	info
Gene	PIK3R1
CLNDBN	SHORT syndrome
Reversed	0
HGVS	NC_000005.9:g.67590403G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000054533.23,