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rs863224836

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(ACTT;ACTT) 0 common in clinvar
(TTAC;TTAC) 0 common in clinvar
Make rs863224836(-;-)
Make rs863224836(-;TTAC)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position31338736
GeneNF1
is asnp
is mentioned by
dbSNPrs863224836
dbSNP (classic)rs863224836
ClinGenrs863224836
ebirs863224836
HLIrs863224836
Exacrs863224836
Gnomadrs863224836
Varsomers863224836
LitVarrs863224836
Maprs863224836
PheGenIrs863224836
Biobankrs863224836
1000 genomesrs863224836
hgdprs863224836
ensemblrs863224836
geneviewrs863224836
scholarrs863224836
googlers863224836
pharmgkbrs863224836
gwascentralrs863224836
openSNPrs863224836
23andMers863224836
SNPshotrs863224836
SNPdbers863224836
MSV3drs863224836
GWAS Ctlgrs863224836
Merged fromRs864622307
Max Magnitude0

aka c.6789_6792delTTAC (p.Tyr2264Thrfs)

ClinVar
Risk rs863224836(-;-) Rs863224836(ACTT;ACTT)
Alt rs863224836(-;-) Rs863224836(ACTT;ACTT)
Reference Rs863224836(TTAC;TTAC)
Significance Pathogenic
Disease Neurofibromatosis Hereditary cancer-predisposing syndrome
Variation info
Gene NF1
CLNDBN Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000017.10:g.29665754_29665757delTTAC
CLNSRC
CLNACC RCV000196480.2, RCV000492169.1,