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rs137854117

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GA;GA) 0 common in clinvar
Make rs137854117(-;-)
Make rs137854117(-;AG)
Make rs137854117(AG;AG)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position2048753
GeneNTHL1, TSC2
is asnp
is mentioned by
dbSNPrs137854117
dbSNP (classic)rs137854117
ClinGenrs137854117
ebirs137854117
HLIrs137854117
Exacrs137854117
Gnomadrs137854117
Varsomers137854117
LitVarrs137854117
Maprs137854117
PheGenIrs137854117
Biobankrs137854117
1000 genomesrs137854117
hgdprs137854117
ensemblrs137854117
geneviewrs137854117
scholarrs137854117
googlers137854117
pharmgkbrs137854117
gwascentralrs137854117
openSNPrs137854117
23andMers137854117
SNPshotrs137854117
SNPdbers137854117
MSV3drs137854117
GWAS Ctlgrs137854117
Max Magnitude0
ClinVar
Risk rs137854117(-;-)
Alt rs137854117(-;-)
Reference Rs137854117(GA;GA)
Significance Pathogenic
Disease Tuberous sclerosis syndrome not provided
Variation info
Gene NTHL1 TSC2
CLNDBN Tuberous sclerosis syndrome not provided
Reversed 0
HGVS NC_000016.9:g.2098754_2098755delAG
CLNSRC Tuberous sclerosis database (TSC2)
CLNACC RCV000042937.2, RCV000413387.1,