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rs1057518535

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(TGAGAG;TGAGAG) 0 common in clinvar
Make rs1057518535(C;C)
Make rs1057518535(C;TGAGAG)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position2048749
GeneNTHL1, TSC2
is asnp
is mentioned by
dbSNPrs1057518535
dbSNP (old)rs1057518535
ClinGenrs1057518535
ebirs1057518535
HLIrs1057518535
Exacrs1057518535
Gnomadrs1057518535
Varsomers1057518535
Maprs1057518535
PheGenIrs1057518535
Biobankrs1057518535
1000 genomesrs1057518535
hgdprs1057518535
ensemblrs1057518535
gopubmedrs1057518535
geneviewrs1057518535
scholarrs1057518535
googlers1057518535
pharmgkbrs1057518535
gwascentralrs1057518535
openSNPrs1057518535
23andMers1057518535
23andMe allrs1057518535
SNPshotrs1057518535
SNPdbers1057518535
MSV3drs1057518535
GWAS Ctlgrs1057518535
Max Magnitude0
ClinVar
Risk rs1057518535(C;C)
Alt rs1057518535(C;C)
Reference Rs1057518535(TGAGAG;TGAGAG)
Significance Pathogenic
Disease not provided
Variation info
Gene NTHL1 TSC2
CLNDBN not provided
Reversed 0
HGVS NC_000016.9:g.2098750_2098755delTGAGAGinsC
CLNSRC
CLNACC RCV000414690.1,