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rs1057516943

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516943(A;A)
Make rs1057516943(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position8797909
GenePMM2, TMEM186
is asnp
is mentioned by
dbSNPrs1057516943
dbSNP (old)rs1057516943
ClinGenrs1057516943
ebirs1057516943
HLIrs1057516943
Exacrs1057516943
Gnomadrs1057516943
Varsomers1057516943
Maprs1057516943
PheGenIrs1057516943
Biobankrs1057516943
1000 genomesrs1057516943
hgdprs1057516943
ensemblrs1057516943
gopubmedrs1057516943
geneviewrs1057516943
scholarrs1057516943
googlers1057516943
pharmgkbrs1057516943
gwascentralrs1057516943
openSNPrs1057516943
23andMers1057516943
23andMe allrs1057516943
SNPshotrs1057516943
SNPdbers1057516943
MSV3drs1057516943
GWAS Ctlgrs1057516943
Max Magnitude0
ClinVar
Risk rs1057516943(A;A)
Alt rs1057516943(A;A)
Reference Rs1057516943(C;C)
Significance Probable-Pathogenic
Disease Carbohydrate-deficient glycoprotein syndrome type I
Variation info
Gene TMEM186 PMM2
CLNDBN Carbohydrate-deficient glycoprotein syndrome type I
Reversed 0
HGVS NC_000016.9:g.8891766C>A
CLNSRC
CLNACC RCV000410306.1,