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rs137854360

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(ACTG;ACTG) 0 common in clinvar
Make rs137854360(-;-)
Make rs137854360(-;CTGA)
Make rs137854360(CTGA;CTGA)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position2048748
GeneNTHL1, TSC2
is asnp
is mentioned by
dbSNPrs137854360
dbSNP (old)rs137854360
ClinGenrs137854360
ebirs137854360
HLIrs137854360
Exacrs137854360
Gnomadrs137854360
Varsomers137854360
Maprs137854360
PheGenIrs137854360
Biobankrs137854360
1000 genomesrs137854360
hgdprs137854360
ensemblrs137854360
gopubmedrs137854360
geneviewrs137854360
scholarrs137854360
googlers137854360
pharmgkbrs137854360
gwascentralrs137854360
openSNPrs137854360
23andMers137854360
23andMe allrs137854360
SNPshotrs137854360
SNPdbers137854360
MSV3drs137854360
GWAS Ctlgrs137854360
Max Magnitude0
ClinVar
Risk rs137854360(-;-)
Alt rs137854360(-;-)
Reference Rs137854360(ACTG;ACTG)
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.2098749_2098752delCTGA
CLNSRC Tuberous sclerosis database (TSC2)
CLNACC RCV000042406.2, RCV000484317.1,