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rs1057518974

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518974(A;A)
Make rs1057518974(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position31334837
GeneNF1
is asnp
is mentioned by
dbSNPrs1057518974
dbSNP (old)rs1057518974
ClinGenrs1057518974
ebirs1057518974
HLIrs1057518974
Exacrs1057518974
Gnomadrs1057518974
Varsomers1057518974
LitVarrs1057518974
Maprs1057518974
PheGenIrs1057518974
Biobankrs1057518974
1000 genomesrs1057518974
hgdprs1057518974
ensemblrs1057518974
gopubmedrs1057518974
geneviewrs1057518974
scholarrs1057518974
googlers1057518974
pharmgkbrs1057518974
gwascentralrs1057518974
openSNPrs1057518974
23andMers1057518974
23andMe allrs1057518974
SNPshotrs1057518974
SNPdbers1057518974
MSV3drs1057518974
GWAS Ctlgrs1057518974
Max Magnitude0
ClinVar
Risk rs1057518974(A;A)
Alt rs1057518974(A;A)
Reference Rs1057518974(G;G)
Significance Probable-Pathogenic
Disease Axillary freckling Cafe-au-lait spot Plexiform neurofibroma
Variation info
Gene NF1
CLNDBN Axillary freckling Cafe-au-lait spot Plexiform neurofibroma
Reversed 0
HGVS NC_000017.10:g.29661855G>A
CLNSRC
CLNACC RCV000415207.1,