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rs786204591

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs786204591(A;G)
Make rs786204591(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position8797883
GenePMM2, TMEM186
is asnp
is mentioned by
dbSNPrs786204591
ebirs786204591
HLIrs786204591
Exacrs786204591
Varsomers786204591
Maprs786204591
PheGenIrs786204591
hapmaprs786204591
1000 genomesrs786204591
hgdprs786204591
ensemblrs786204591
gopubmedrs786204591
geneviewrs786204591
scholarrs786204591
googlers786204591
pharmgkbrs786204591
gwascentralrs786204591
openSNPrs786204591
23andMers786204591
23andMe allrs786204591
SNP Nexus

SNPshotrs786204591
SNPdbers786204591
MSV3drs786204591
GWAS Ctlgrs786204591
Max Magnitude0
ClinVar
Risk rs786204591(G;G)
Alt rs786204591(G;G)
Reference rs786204591(A;A)
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.8891740A>G
CLNSRC
CLNACC RCV000169340.1,