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rs1057517528

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517528(A;G)
Make rs1057517528(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position61393229
GeneTMEM216
is asnp
is mentioned by
dbSNPrs1057517528
dbSNP (old)rs1057517528
ClinGenrs1057517528
ebirs1057517528
HLIrs1057517528
Exacrs1057517528
Gnomadrs1057517528
Varsomers1057517528
LitVarrs1057517528
Maprs1057517528
PheGenIrs1057517528
Biobankrs1057517528
1000 genomesrs1057517528
hgdprs1057517528
ensemblrs1057517528
gopubmedrs1057517528
geneviewrs1057517528
scholarrs1057517528
googlers1057517528
pharmgkbrs1057517528
gwascentralrs1057517528
openSNPrs1057517528
23andMers1057517528
23andMe allrs1057517528
SNPshotrs1057517528
SNPdbers1057517528
MSV3drs1057517528
GWAS Ctlgrs1057517528
Max Magnitude0
ClinVar
Risk rs1057517528(G;G)
Alt rs1057517528(G;G)
Reference Rs1057517528(A;A)
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.61160701A>G
CLNSRC
CLNACC RCV000409368.1, RCV000410496.1,