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rs768021123

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs768021123(-;-)
Make rs768021123(-;C)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position8797906
GenePMM2, TMEM186
is asnp
is mentioned by
dbSNPrs768021123
ebirs768021123
HLIrs768021123
Exacrs768021123
Varsomers768021123
Maprs768021123
PheGenIrs768021123
hapmaprs768021123
1000 genomesrs768021123
hgdprs768021123
ensemblrs768021123
gopubmedrs768021123
geneviewrs768021123
scholarrs768021123
googlers768021123
pharmgkbrs768021123
gwascentralrs768021123
openSNPrs768021123
23andMers768021123
23andMe allrs768021123
SNP Nexus

SNPshotrs768021123
SNPdbers768021123
MSV3drs768021123
GWAS Ctlgrs768021123
Max Magnitude0
ClinVar
Risk rs768021123(;)
Alt rs768021123(;)
Reference rs768021123(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.8891763delC
CLNSRC
CLNACC RCV000169057.1,