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rs1057518842

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057518842(G;G)
Make rs1057518842(G;T)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position31227215
GeneNF1
is asnp
is mentioned by
dbSNPrs1057518842
dbSNP (old)rs1057518842
ClinGenrs1057518842
ebirs1057518842
HLIrs1057518842
Exacrs1057518842
Gnomadrs1057518842
Varsomers1057518842
Maprs1057518842
PheGenIrs1057518842
Biobankrs1057518842
1000 genomesrs1057518842
hgdprs1057518842
ensemblrs1057518842
gopubmedrs1057518842
geneviewrs1057518842
scholarrs1057518842
googlers1057518842
pharmgkbrs1057518842
gwascentralrs1057518842
openSNPrs1057518842
23andMers1057518842
23andMe allrs1057518842
SNPshotrs1057518842
SNPdbers1057518842
MSV3drs1057518842
GWAS Ctlgrs1057518842
Max Magnitude0
ClinVar
Risk rs1057518842(G;G)
Alt rs1057518842(G;G)
Reference Rs1057518842(T;T)
Significance Probable-Pathogenic
Disease Axillary freckling Cafe-au-lait spot Inguinal freckling Multiple cafe-au-lait spots Neurofibromas
Variation info
Gene NF1
CLNDBN Axillary freckling Cafe-au-lait spot Inguinal freckling Multiple cafe-au-lait spots Neurofibromas
Reversed 0
HGVS NC_000017.10:g.29554233T>G
CLNSRC
CLNACC RCV000414786.1,