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rs387906888

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AAT;AAT) 0 common in clinvar
(TAA;TAA) 0 common in clinvar
Make rs387906888(-;-)
Make rs387906888(-;AAT)
ReferenceGRCh38 38.1/141
Chromosome1
Position63414141
GeneALG6
is asnp
is mentioned by
dbSNPrs387906888
ebirs387906888
HLIrs387906888
Exacrs387906888
Varsomers387906888
Maprs387906888
PheGenIrs387906888
hapmaprs387906888
1000 genomesrs387906888
hgdprs387906888
ensemblrs387906888
gopubmedrs387906888
geneviewrs387906888
scholarrs387906888
googlers387906888
pharmgkbrs387906888
gwascentralrs387906888
openSNPrs387906888
23andMers387906888
23andMe allrs387906888
SNP Nexus

SNPshotrs387906888
SNPdbers387906888
MSV3drs387906888
GWAS Ctlgrs387906888
Max Magnitude0
ClinVar
Risk rs387906888(;)
Alt rs387906888(;)
Reference rs387906888(TAA;TAA)
Significance Pathogenic
Disease Congenital disorder of glycosylation type 1C
Variation info
Gene ALG6
CLNDBN Congenital disorder of glycosylation type 1C
Reversed 0
HGVS NC_000001.10:g.63879812_63879814delAAT
CLNSRC OMIM Allelic Variant
CLNACC RCV000023373.4,