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rs1057517697

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517697(C;T)
Make rs1057517697(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position88195521
GeneTMTC3
is asnp
is mentioned by
dbSNPrs1057517697
dbSNP (old)rs1057517697
ClinGenrs1057517697
ebirs1057517697
HLIrs1057517697
Exacrs1057517697
Gnomadrs1057517697
Varsomers1057517697
Maprs1057517697
PheGenIrs1057517697
Biobankrs1057517697
1000 genomesrs1057517697
hgdprs1057517697
ensemblrs1057517697
gopubmedrs1057517697
geneviewrs1057517697
scholarrs1057517697
googlers1057517697
pharmgkbrs1057517697
gwascentralrs1057517697
openSNPrs1057517697
23andMers1057517697
23andMe allrs1057517697
SNPshotrs1057517697
SNPdbers1057517697
MSV3drs1057517697
GWAS Ctlgrs1057517697
Max Magnitude0
ClinVar
Risk rs1057517697(T;T)
Alt rs1057517697(T;T)
Reference Rs1057517697(C;C)
Significance Pathogenic
Disease Lissencephaly 8
Variation info
Gene TMTC3
CLNDBN Lissencephaly 8
Reversed 0
HGVS NC_000012.11:g.88589298C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000412534.1,