rs397515453

Orientation

plus

Stabilized

plus

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

Make rs397515453(C;T)

Make rs397515453(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

68296301

Gene

PIK3R1

is a	snp
is	mentioned by
dbSNP	rs397515453
dbSNP (classic)	rs397515453
ClinGen	rs397515453
ebi	rs397515453
HLI	rs397515453
Exac	rs397515453
Gnomad	rs397515453
Varsome	rs397515453
LitVar	rs397515453
Map	rs397515453
PheGenI	rs397515453
Biobank	rs397515453
1000 genomes	rs397515453
hgdp	rs397515453
ensembl	rs397515453
geneview	rs397515453
scholar	rs397515453
google	rs397515453
pharmgkb	rs397515453
gwascentral	rs397515453
openSNP	rs397515453
23andMe	rs397515453
SNPshot	rs397515453
SNPdbe	rs397515453
MSV3d	rs397515453
GWAS Ctlg	rs397515453

Max Magnitude

0

ClinVar
Risk	rs397515453(T;T)
Alt	rs397515453(T;T)
Reference	Rs397515453(C;C)
Significance	Pathogenic
Disease	SHORT syndrome not provided
Variation	info
Gene	PIK3R1
CLNDBN	SHORT syndrome not provided
Reversed	0
HGVS	NC_000005.9:g.67592129C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000054534.29, RCV000414540.1,