rs397514565

Orientation

plus

Stabilized

plus

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

Make rs397514565(A;A)

Make rs397514565(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

3

Position

179204576

Gene

PIK3CA

is a	snp
is	mentioned by
dbSNP	rs397514565
dbSNP (classic)	rs397514565
ClinGen	rs397514565
ebi	rs397514565
HLI	rs397514565
Exac	rs397514565
Gnomad	rs397514565
Varsome	rs397514565
LitVar	rs397514565
Map	rs397514565
PheGenI	rs397514565
Biobank	rs397514565
1000 genomes	rs397514565
hgdp	rs397514565
ensembl	rs397514565
geneview	rs397514565
scholar	rs397514565
google	rs397514565
pharmgkb	rs397514565
gwascentral	rs397514565
openSNP	rs397514565
23andMe	rs397514565
SNPshot	rs397514565
SNPdbe	rs397514565
MSV3d	rs397514565
GWAS Ctlg	rs397514565

Max Magnitude

0

ClinVar
Risk	rs397514565(A;A)
Alt	rs397514565(A;A)
Reference	Rs397514565(G;G)
Significance	Pathogenic
Disease	Megalencephaly cutis marmorata telangiectatica congenita PIK3CA related overgrowth spectrum
Variation	info
Gene	PIK3CA
CLNDBN	Megalencephaly cutis marmorata telangiectatica congenita PIK3CA related overgrowth spectrum
Reversed	0
HGVS	NC_000003.11:g.178922364G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000032908.5, RCV000201233.1,