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rs1057518807

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057518807(C;T)
Make rs1057518807(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position31338788
GeneNF1
is asnp
is mentioned by
dbSNPrs1057518807
dbSNP (old)rs1057518807
ClinGenrs1057518807
ebirs1057518807
HLIrs1057518807
Exacrs1057518807
Gnomadrs1057518807
Varsomers1057518807
Maprs1057518807
PheGenIrs1057518807
Biobankrs1057518807
1000 genomesrs1057518807
hgdprs1057518807
ensemblrs1057518807
gopubmedrs1057518807
geneviewrs1057518807
scholarrs1057518807
googlers1057518807
pharmgkbrs1057518807
gwascentralrs1057518807
openSNPrs1057518807
23andMers1057518807
23andMe allrs1057518807
SNPshotrs1057518807
SNPdbers1057518807
MSV3drs1057518807
GWAS Ctlgrs1057518807
Max Magnitude0
ClinVar
Risk rs1057518807(T;T)
Alt rs1057518807(T;T)
Reference Rs1057518807(C;C)
Significance Pathogenic
Disease Multiple cafe-au-lait spots Subcutaneous neurofibromas
Variation info
Gene NF1
CLNDBN Multiple cafe-au-lait spots Subcutaneous neurofibromas
Reversed 0
HGVS NC_000017.10:g.29665806C>T
CLNSRC
CLNACC RCV000414957.1,