Rs104894532

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Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894532(A;A)
Make rs104894532(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position8797908
GenePMM2, TMEM186
is asnp
is mentioned by
dbSNPrs104894532
PheGenIrs104894532
nextbiors104894532
hapmaprs104894532
1000 genomesrs104894532
hgdprs104894532
ensemblrs104894532
gopubmedrs104894532
geneviewrs104894532
scholarrs104894532
googlers104894532
pharmgkbrs104894532
gwascentralrs104894532
openSNPrs104894532
23andMers104894532
23andMe allrs104894532
SNP Nexus

SNPshotrs104894532
SNPdbers104894532
MSV3drs104894532
Max Magnitude0
OMIM601785
Desc
Variant0015
Relatedalso
ClinVar
Risk rs104894532(A;A)
Alt rs104894532(A;A)
Reference rs104894532(G;G)
Significance 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.8891765G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008159.2,