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rs1057517696

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517696(-;-)
Make rs1057517696(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position88188872
GeneTMTC3
is asnp
is mentioned by
dbSNPrs1057517696
dbSNP (old)rs1057517696
ClinGenrs1057517696
ebirs1057517696
HLIrs1057517696
Exacrs1057517696
Gnomadrs1057517696
Varsomers1057517696
Maprs1057517696
PheGenIrs1057517696
Biobankrs1057517696
1000 genomesrs1057517696
hgdprs1057517696
ensemblrs1057517696
gopubmedrs1057517696
geneviewrs1057517696
scholarrs1057517696
googlers1057517696
pharmgkbrs1057517696
gwascentralrs1057517696
openSNPrs1057517696
23andMers1057517696
23andMe allrs1057517696
SNPshotrs1057517696
SNPdbers1057517696
MSV3drs1057517696
GWAS Ctlgrs1057517696
Max Magnitude0
ClinVar
Risk rs1057517696(-;-)
Alt rs1057517696(-;-)
Reference Rs1057517696(A;A)
Significance Pathogenic
Disease Lissencephaly 8
Variation info
Gene TMTC3
CLNDBN Lissencephaly 8
Reversed 0
HGVS NC_000012.11:g.88582649delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000412494.1,