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rs1057518904

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057518904(A;G)
Make rs1057518904(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position31221932
GeneNF1
is asnp
is mentioned by
dbSNPrs1057518904
dbSNP (classic)rs1057518904
ClinGenrs1057518904
ebirs1057518904
HLIrs1057518904
Exacrs1057518904
Gnomadrs1057518904
Varsomers1057518904
LitVarrs1057518904
Maprs1057518904
PheGenIrs1057518904
Biobankrs1057518904
1000 genomesrs1057518904
hgdprs1057518904
ensemblrs1057518904
geneviewrs1057518904
scholarrs1057518904
googlers1057518904
pharmgkbrs1057518904
gwascentralrs1057518904
openSNPrs1057518904
23andMers1057518904
23andMe allrs1057518904
SNPshotrs1057518904
SNPdbers1057518904
MSV3drs1057518904
GWAS Ctlgrs1057518904
Max Magnitude0
ClinVar
Risk rs1057518904(G;G)
Alt rs1057518904(G;G)
Reference Rs1057518904(A;A)
Significance Pathogenic
Disease Multiple cafe-au-lait spots Neurofibromas Neurofibromatosis Hereditary cancer-predisposing syndrome
Variation info
Gene NF1
CLNDBN Multiple cafe-au-lait spots Neurofibromas Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000017.10:g.29548950A>G
CLNSRC
CLNACC RCV000414938.1, RCV000457496.1, RCV000492226.1,