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rs17856039

From SNPedia

Merged intors4630153
Orientationplus
Stabilizedplus
Make rs17856039(C;C)
Make rs17856039(C;T)
Make rs17856039(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position63415881
GeneALG6
is asnp
is mentioned by
dbSNPrs17856039
ebirs17856039
HLIrs17856039
Exacrs17856039
Varsomers17856039
Maprs17856039
PheGenIrs17856039
hapmaprs17856039
1000 genomesrs17856039
hgdprs17856039
ensemblrs17856039
gopubmedrs17856039
geneviewrs17856039
scholarrs17856039
googlers17856039
pharmgkbrs17856039
gwascentralrs17856039
openSNPrs17856039
23andMers17856039
23andMe allrs17856039
SNP Nexus

SNPshotrs17856039
SNPdbers17856039
MSV3drs17856039
GWAS Ctlgrs17856039
StatusMerged into rs4630153
Max Magnitude
Venter snp
Source plos
Gene ALG6
allele T
frequency
sift TOLERATED
HuRef 1103675111748
Disease Association Defects in ALG6 are the cause of congenital disorder of glycosylation type Ic (CDG-Ic) (MIM:603147); also known as carbohydrate-deficient glycoprotein syndrome V (CDGS type V or CDGS V). Congenital disorders of glycosylation are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. They are characterized by under-glycosylated serum glycoproteins and are caused by mutations in genes encoding proteins involved in the stepwise assembly of dolichol-oligosaccharide used for protein N- glycosylation. CDG-Ic is an autosomal recessive disorder biochemically characterized by an accumulation of dolichyl pyrophosphate-linked Man(9)GlcNAc(2) in the endoplasmic reticulum. Patients have muscular hypotonia, show a delayed statomotor development and are mentally retarded.