rs398122385

Orientation

plus

Stabilized

plus

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

Make rs398122385(-;C)

Make rs398122385(C;C)

Reference

GRCh38 38.1/141

Chromosome

5

Position

68296262

Gene

PIK3R1

is a	snp
is	mentioned by
dbSNP	rs398122385
dbSNP (classic)	rs398122385
ClinGen	rs398122385
ebi	rs398122385
HLI	rs398122385
Exac	rs398122385
Gnomad	rs398122385
Varsome	rs398122385
LitVar	rs398122385
Map	rs398122385
PheGenI	rs398122385
Biobank	rs398122385
1000 genomes	rs398122385
hgdp	rs398122385
ensembl	rs398122385
geneview	rs398122385
scholar	rs398122385
google	rs398122385
pharmgkb	rs398122385
gwascentral	rs398122385
openSNP	rs398122385
23andMe	rs398122385
SNPshot	rs398122385
SNPdbe	rs398122385
MSV3d	rs398122385
GWAS Ctlg	rs398122385

Max Magnitude

0

ClinVar
Risk	rs398122385(C;C)
Alt	rs398122385(C;C)
Reference	Rs398122385(-;-)
Significance	Pathogenic
Disease	SHORT syndrome
Variation	info
Gene	PIK3R1
CLNDBN	SHORT syndrome
Reversed	0
HGVS	NC_000005.9:g.67592090_67592091insC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000054536.26,