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rs730881048

From SNPedia

Orientationminus
Geno Mag Summary
(GG;GG) 0 common in clinvar
Make rs730881048(AA;AA)
Make rs730881048(AA;GG)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position39023127
GeneSOS1
is asnp
is mentioned by
dbSNPrs730881048
ebirs730881048
HLIrs730881048
Exacrs730881048
Varsomers730881048
Maprs730881048
PheGenIrs730881048
hapmaprs730881048
1000 genomesrs730881048
hgdprs730881048
ensemblrs730881048
gopubmedrs730881048
geneviewrs730881048
scholarrs730881048
googlers730881048
pharmgkbrs730881048
gwascentralrs730881048
openSNPrs730881048
23andMers730881048
23andMe allrs730881048
SNP Nexus

SNPshotrs730881048
SNPdbers730881048
MSV3drs730881048
GWAS Ctlgrs730881048
Max Magnitude0
ClinVar
Risk rs730881048(AA;AA)
Alt rs730881048(AA;AA)
Reference rs730881048(GG;GG)
Significance Pathogenic
Disease Rasopathy
Variation info
Gene SOS1
CLNDBN Rasopathy
Reversed 1
HGVS NC_000002.11:g.39250268_39250269delCCinsTT
CLNSRC
CLNACC RCV000159179.1,