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rs1057517512

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517512(-;-)
Make rs1057517512(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position61393969
GeneTMEM216
is asnp
is mentioned by
dbSNPrs1057517512
dbSNP (old)rs1057517512
ClinGenrs1057517512
ebirs1057517512
HLIrs1057517512
Exacrs1057517512
Gnomadrs1057517512
Varsomers1057517512
Maprs1057517512
PheGenIrs1057517512
Biobankrs1057517512
1000 genomesrs1057517512
hgdprs1057517512
ensemblrs1057517512
gopubmedrs1057517512
geneviewrs1057517512
scholarrs1057517512
googlers1057517512
pharmgkbrs1057517512
gwascentralrs1057517512
openSNPrs1057517512
23andMers1057517512
23andMe allrs1057517512
SNPshotrs1057517512
SNPdbers1057517512
MSV3drs1057517512
GWAS Ctlgrs1057517512
Max Magnitude0
ClinVar
Risk rs1057517512(-;-)
Alt rs1057517512(-;-)
Reference Rs1057517512(G;G)
Significance Probable-Pathogenic
Disease Meckel syndrome type 2 Joubert syndrome 2
Variation info
Gene TMEM216
CLNDBN Meckel syndrome type 2 Joubert syndrome 2
Reversed 0
HGVS NC_000011.9:g.61161441delG
CLNSRC
CLNACC RCV000411381.1, RCV000412090.1,