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rs1057519417

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057519417(-;TT)
Make rs1057519417(TT;TT)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position88194863
GeneTMTC3
is asnp
is mentioned by
dbSNPrs1057519417
dbSNP (old)rs1057519417
ClinGenrs1057519417
ebirs1057519417
HLIrs1057519417
Exacrs1057519417
Gnomadrs1057519417
Varsomers1057519417
LitVarrs1057519417
Maprs1057519417
PheGenIrs1057519417
Biobankrs1057519417
1000 genomesrs1057519417
hgdprs1057519417
ensemblrs1057519417
gopubmedrs1057519417
geneviewrs1057519417
scholarrs1057519417
googlers1057519417
pharmgkbrs1057519417
gwascentralrs1057519417
openSNPrs1057519417
23andMers1057519417
23andMe allrs1057519417
SNPshotrs1057519417
SNPdbers1057519417
MSV3drs1057519417
GWAS Ctlgrs1057519417
Max Magnitude0
ClinVar
Risk rs1057519417(TT;TT)
Alt rs1057519417(TT;TT)
Reference Rs1057519417(-;-)
Significance Pathogenic
Disease Lissencephaly 8
Variation info
Gene TMTC3
CLNDBN Lissencephaly 8
Reversed 0
HGVS NC_000012.11:g.88588640_88588641insTT
CLNSRC OMIM Allelic Variant
CLNACC RCV000412615.1,