rs397507529

Orientation

plus

Stabilized

plus

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

Make rs397507529(A;G)

Make rs397507529(G;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

112473031

Gene

PTPN11

is a	snp
is	mentioned by
dbSNP	rs397507529
dbSNP (classic)	rs397507529
ClinGen	rs397507529
ebi	rs397507529
HLI	rs397507529
Exac	rs397507529
Gnomad	rs397507529
Varsome	rs397507529
LitVar	rs397507529
Map	rs397507529
PheGenI	rs397507529
Biobank	rs397507529
1000 genomes	rs397507529
hgdp	rs397507529
ensembl	rs397507529
geneview	rs397507529
scholar	rs397507529
google	rs397507529
pharmgkb	rs397507529
gwascentral	rs397507529
openSNP	rs397507529
23andMe	rs397507529
SNPshot	rs397507529
SNPdbe	rs397507529
MSV3d	rs397507529
GWAS Ctlg	rs397507529

Max Magnitude

0

ClinVar
Risk	rs397507529(G;G)
Alt	rs397507529(G;G)
Reference	Rs397507529(A;A)
Significance	Pathogenic
Disease	Rasopathy not provided Noonan syndrome 1
Variation	info
Gene	PTPN11
CLNDBN	Rasopathy not provided Noonan syndrome 1
Reversed	0
HGVS	NC_000012.11:g.112910835A>G
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000033505.5, RCV000077860.5, RCV000154403.3,