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rs1057517698

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517698(A;A)
Make rs1057517698(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position88148318
GeneTMTC3
is asnp
is mentioned by
dbSNPrs1057517698
dbSNP (old)rs1057517698
ClinGenrs1057517698
ebirs1057517698
HLIrs1057517698
Exacrs1057517698
Gnomadrs1057517698
Varsomers1057517698
Maprs1057517698
PheGenIrs1057517698
Biobankrs1057517698
1000 genomesrs1057517698
hgdprs1057517698
ensemblrs1057517698
gopubmedrs1057517698
geneviewrs1057517698
scholarrs1057517698
googlers1057517698
pharmgkbrs1057517698
gwascentralrs1057517698
openSNPrs1057517698
23andMers1057517698
23andMe allrs1057517698
SNPshotrs1057517698
SNPdbers1057517698
MSV3drs1057517698
GWAS Ctlgrs1057517698
Max Magnitude0
ClinVar
Risk rs1057517698(A;A)
Alt rs1057517698(A;A)
Reference Rs1057517698(G;G)
Significance Pathogenic
Disease Lissencephaly 8
Variation info
Gene TMTC3
CLNDBN Lissencephaly 8
Reversed 0
HGVS NC_000012.11:g.88542095G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000412567.1,