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rs1057517498

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057517498(C;C)
Make rs1057517498(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position61392667
GeneTMEM216
is asnp
is mentioned by
dbSNPrs1057517498
dbSNP (old)rs1057517498
ClinGenrs1057517498
ebirs1057517498
HLIrs1057517498
Exacrs1057517498
Gnomadrs1057517498
Varsomers1057517498
Maprs1057517498
PheGenIrs1057517498
Biobankrs1057517498
1000 genomesrs1057517498
hgdprs1057517498
ensemblrs1057517498
gopubmedrs1057517498
geneviewrs1057517498
scholarrs1057517498
googlers1057517498
pharmgkbrs1057517498
gwascentralrs1057517498
openSNPrs1057517498
23andMers1057517498
23andMe allrs1057517498
SNPshotrs1057517498
SNPdbers1057517498
MSV3drs1057517498
GWAS Ctlgrs1057517498
Max Magnitude0
ClinVar
Risk rs1057517498(C;C)
Alt rs1057517498(C;C)
Reference Rs1057517498(T;T)
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.61160139T>C
CLNSRC
CLNACC RCV000409881.1, RCV000411402.1,