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rs1057517475

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517475(-;T)
Make rs1057517475(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position61393975
GeneTMEM216
is asnp
is mentioned by
dbSNPrs1057517475
dbSNP (classic)rs1057517475
ClinGenrs1057517475
ebirs1057517475
HLIrs1057517475
Exacrs1057517475
Gnomadrs1057517475
Varsomers1057517475
LitVarrs1057517475
Maprs1057517475
PheGenIrs1057517475
Biobankrs1057517475
1000 genomesrs1057517475
hgdprs1057517475
ensemblrs1057517475
geneviewrs1057517475
scholarrs1057517475
googlers1057517475
pharmgkbrs1057517475
gwascentralrs1057517475
openSNPrs1057517475
23andMers1057517475
23andMe allrs1057517475
SNPshotrs1057517475
SNPdbers1057517475
MSV3drs1057517475
GWAS Ctlgrs1057517475
Max Magnitude0
ClinVar
Risk rs1057517475(T;T)
Alt rs1057517475(T;T)
Reference Rs1057517475(-;-)
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.61161447dupT
CLNSRC
CLNACC RCV000410198.1, RCV000412190.1,