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rs730880508

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GC;GC) 0 common in clinvar
Make rs730880508(GC;TT)
Make rs730880508(TT;TT)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position66436837
GeneMAP2K1
is asnp
is mentioned by
dbSNPrs730880508
dbSNP (classic)rs730880508
ClinGenrs730880508
ebirs730880508
HLIrs730880508
Exacrs730880508
Gnomadrs730880508
Varsomers730880508
LitVarrs730880508
Maprs730880508
PheGenIrs730880508
Biobankrs730880508
1000 genomesrs730880508
hgdprs730880508
ensemblrs730880508
geneviewrs730880508
scholarrs730880508
googlers730880508
pharmgkbrs730880508
gwascentralrs730880508
openSNPrs730880508
23andMers730880508
SNPshotrs730880508
SNPdbers730880508
MSV3drs730880508
GWAS Ctlgrs730880508
Max Magnitude0
ClinVar
Risk rs730880508(TT;TT)
Alt rs730880508(TT;TT)
Reference Rs730880508(GC;GC)
Significance Pathogenic
Disease Rasopathy
Variation info
Gene MAP2K1
CLNDBN Rasopathy
Reversed 0
HGVS NC_000015.9:g.66729175_66729176delGCinsTT
CLNSRC
CLNACC RCV000158013.1,