rs398122384

Orientation

plus

Stabilized

plus

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

Make rs398122384(-;T)

Make rs398122384(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

68296299

Gene

PIK3R1

is a	snp
is	mentioned by
dbSNP	rs398122384
dbSNP (classic)	rs398122384
ClinGen	rs398122384
ebi	rs398122384
HLI	rs398122384
Exac	rs398122384
Gnomad	rs398122384
Varsome	rs398122384
LitVar	rs398122384
Map	rs398122384
PheGenI	rs398122384
Biobank	rs398122384
1000 genomes	rs398122384
hgdp	rs398122384
ensembl	rs398122384
geneview	rs398122384
scholar	rs398122384
google	rs398122384
pharmgkb	rs398122384
gwascentral	rs398122384
openSNP	rs398122384
23andMe	rs398122384
SNPshot	rs398122384
SNPdbe	rs398122384
MSV3d	rs398122384
GWAS Ctlg	rs398122384

Max Magnitude

0

ClinVar
Risk	rs398122384(T;T)
Alt	rs398122384(T;T)
Reference	Rs398122384(-;-)
Significance	Pathogenic
Disease	SHORT syndrome
Variation	info
Gene	PIK3R1
CLNDBN	SHORT syndrome
Reversed	0
HGVS	NC_000005.9:g.67592127dupT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000054535.27,