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rs863225040

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs863225040(-;T)
Make rs863225040(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position2048660
GeneNTHL1, TSC2
is asnp
is mentioned by
dbSNPrs863225040
dbSNP (old)rs863225040
ClinGenrs863225040
ebirs863225040
HLIrs863225040
Exacrs863225040
Gnomadrs863225040
Varsomers863225040
Maprs863225040
PheGenIrs863225040
Biobankrs863225040
1000 genomesrs863225040
hgdprs863225040
ensemblrs863225040
gopubmedrs863225040
geneviewrs863225040
scholarrs863225040
googlers863225040
pharmgkbrs863225040
gwascentralrs863225040
openSNPrs863225040
23andMers863225040
23andMe allrs863225040
SNP Nexus

SNPshotrs863225040
SNPdbers863225040
MSV3drs863225040
GWAS Ctlgrs863225040
Max Magnitude0
ClinVar
Risk rs863225040(T;T)
Alt rs863225040(T;T)
Reference Rs863225040(-;-)
Significance Pathogenic
Disease Tuberous sclerosis 2
Variation info
Gene NTHL1 TSC2
CLNDBN Tuberous sclerosis 2
Reversed 0
HGVS NC_000016.9:g.2098661dupT
CLNSRC Quest Diagnostics
CLNACC RCV000201207.1,