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rs727504295

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727504295(A;A)
Make rs727504295(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position39023106
GeneSOS1
is asnp
is mentioned by
dbSNPrs727504295
dbSNP (classic)rs727504295
ClinGenrs727504295
ebirs727504295
HLIrs727504295
Exacrs727504295
Gnomadrs727504295
Varsomers727504295
LitVarrs727504295
Maprs727504295
PheGenIrs727504295
Biobankrs727504295
1000 genomesrs727504295
hgdprs727504295
ensemblrs727504295
geneviewrs727504295
scholarrs727504295
googlers727504295
pharmgkbrs727504295
gwascentralrs727504295
openSNPrs727504295
23andMers727504295
SNPshotrs727504295
SNPdbers727504295
MSV3drs727504295
GWAS Ctlgrs727504295
Max Magnitude0
ClinVar
Risk rs727504295(A;A)
Alt rs727504295(A;A)
Reference Rs727504295(G;G)
Significance Pathogenic
Disease Noonan syndrome not provided
Variation info
Gene SOS1
CLNDBN Noonan syndrome not provided
Reversed 1
HGVS NC_000002.11:g.39250247C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000154314.1, RCV000159166.1,