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rs1057517516

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057517516(-;-)
Make rs1057517516(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position61393975
GeneTMEM216
is asnp
is mentioned by
dbSNPrs1057517516
dbSNP (old)rs1057517516
ClinGenrs1057517516
ebirs1057517516
HLIrs1057517516
Exacrs1057517516
Gnomadrs1057517516
Varsomers1057517516
Maprs1057517516
PheGenIrs1057517516
Biobankrs1057517516
1000 genomesrs1057517516
hgdprs1057517516
ensemblrs1057517516
gopubmedrs1057517516
geneviewrs1057517516
scholarrs1057517516
googlers1057517516
pharmgkbrs1057517516
gwascentralrs1057517516
openSNPrs1057517516
23andMers1057517516
23andMe allrs1057517516
SNPshotrs1057517516
SNPdbers1057517516
MSV3drs1057517516
GWAS Ctlgrs1057517516
Max Magnitude0
ClinVar
Risk rs1057517516(-;-)
Alt rs1057517516(-;-)
Reference Rs1057517516(T;T)
Significance Probable-Pathogenic
Disease Joubert syndrome 2 Meckel syndrome type 2
Variation info
Gene TMEM216
CLNDBN Joubert syndrome 2 Meckel syndrome type 2
Reversed 0
HGVS NC_000011.9:g.61161447delT
CLNSRC
CLNACC RCV000410191.1, RCV000412251.1,