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rs1057518792

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518792(A;A)
Make rs1057518792(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position31229024
GeneNF1
is asnp
is mentioned by
dbSNPrs1057518792
dbSNP (old)rs1057518792
ClinGenrs1057518792
ebirs1057518792
HLIrs1057518792
Exacrs1057518792
Gnomadrs1057518792
Varsomers1057518792
LitVarrs1057518792
Maprs1057518792
PheGenIrs1057518792
Biobankrs1057518792
1000 genomesrs1057518792
hgdprs1057518792
ensemblrs1057518792
gopubmedrs1057518792
geneviewrs1057518792
scholarrs1057518792
googlers1057518792
pharmgkbrs1057518792
gwascentralrs1057518792
openSNPrs1057518792
23andMers1057518792
23andMe allrs1057518792
SNPshotrs1057518792
SNPdbers1057518792
MSV3drs1057518792
GWAS Ctlgrs1057518792
Max Magnitude0
ClinVar
Risk rs1057518792(A;A)
Alt rs1057518792(A;A)
Reference Rs1057518792(G;G)
Significance Probable-Pathogenic
Disease Multiple cafe-au-lait spots
Variation info
Gene NF1
CLNDBN Multiple cafe-au-lait spots
Reversed 0
HGVS NC_000017.10:g.29556042G>A
CLNSRC
CLNACC RCV000415363.1,