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rs267606609

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GC;GC) 0 common in clinvar
Make rs267606609(AA;AA)
Make rs267606609(AA;GC)
ReferenceGRCh38 38.1/141
Chromosome17
Position31200478
GeneNF1
is asnp
is mentioned by
dbSNPrs267606609
ebirs267606609
HLIrs267606609
Exacrs267606609
Varsomers267606609
Maprs267606609
PheGenIrs267606609
hapmaprs267606609
1000 genomesrs267606609
hgdprs267606609
ensemblrs267606609
gopubmedrs267606609
geneviewrs267606609
scholarrs267606609
googlers267606609
pharmgkbrs267606609
gwascentralrs267606609
openSNPrs267606609
23andMers267606609
23andMe allrs267606609
SNP Nexus

SNPshotrs267606609
SNPdbers267606609
MSV3drs267606609
GWAS Ctlgrs267606609
Max Magnitude0
ClinVar
Risk rs267606609(AA;AA)
Alt rs267606609(AA;AA)
Reference rs267606609(GC;GC)
Significance Pathogenic
Disease Neurofibromatosis-Noonan syndrome
Variation info
Gene NF1
CLNDBN Neurofibromatosis-Noonan syndrome
Reversed 0
HGVS NC_000017.10:g.29527496_29527497delGCinsAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000000396.4,