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rs786202782

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;ACTA) 5.5 Neurofibromatosis type 1
(TAAC;TAAC) 0 common in clinvar
Make rs786202782(-;-)
Make rs786202782(ACTA;ACTA)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position31223478
GeneNF1
is asnp
is mentioned by
dbSNPrs786202782
dbSNP (classic)rs786202782
ClinGenrs786202782
ebirs786202782
HLIrs786202782
Exacrs786202782
Gnomadrs786202782
Varsomers786202782
LitVarrs786202782
Maprs786202782
PheGenIrs786202782
Biobankrs786202782
1000 genomesrs786202782
hgdprs786202782
ensemblrs786202782
geneviewrs786202782
scholarrs786202782
googlers786202782
pharmgkbrs786202782
gwascentralrs786202782
openSNPrs786202782
23andMers786202782
SNPshotrs786202782
SNPdbers786202782
MSV3drs786202782
GWAS Ctlgrs786202782
Max Magnitude5.5
ClinVar
Risk rs786202782(-;-)
Alt rs786202782(-;-)
Reference Rs786202782(TAAC;TAAC)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Neurofibromatosis not provided
Variation info
Gene NF1
CLNDBN Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 not provided
Reversed 0
HGVS NC_000017.10:g.29550496_29550499delACTA
CLNSRC
CLNACC RCV000165769.2, RCV000467300.1, RCV000484704.1,