Have questions? Visit https://www.reddit.com/r/SNPedia

rs267606606

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AAT;AAT) 0 common in clinvar
Make rs267606606(-;-)
Make rs267606606(-;AAT)
ReferenceGRCh38 38.1/141
Chromosome17
Position31229954
GeneNF1
is asnp
is mentioned by
dbSNPrs267606606
ebirs267606606
HLIrs267606606
Exacrs267606606
Varsomers267606606
Maprs267606606
PheGenIrs267606606
hapmaprs267606606
1000 genomesrs267606606
hgdprs267606606
ensemblrs267606606
gopubmedrs267606606
geneviewrs267606606
scholarrs267606606
googlers267606606
pharmgkbrs267606606
gwascentralrs267606606
openSNPrs267606606
23andMers267606606
23andMe allrs267606606
SNP Nexus

SNPshotrs267606606
SNPdbers267606606
MSV3drs267606606
GWAS Ctlgrs267606606
Max Magnitude0
ClinVar
Risk rs267606606(;)
Alt rs267606606(;)
Reference rs267606606(AAT;AAT)
Significance Pathogenic
Disease Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Neurofibromatosis Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene NF1
CLNDBN Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Neurofibromatosis, type 1 Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000017.10:g.29556972_29556974delAAT
CLNSRC OMIM Allelic Variant
CLNACC RCV000000392.4, RCV000000393.4, RCV000196290.1, RCV000215737.1,