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rs387906338

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(ATA;ATA) 0 common in clinvar
(TAA;TAA) 0 common in clinvar
Make rs387906338(-;-)
Make rs387906338(-;ATA)
ReferenceGRCh38 38.1/141
Chromosome1
Position63414139
GeneALG6
is asnp
is mentioned by
dbSNPrs387906338
ebirs387906338
HLIrs387906338
Exacrs387906338
Varsomers387906338
Maprs387906338
PheGenIrs387906338
hapmaprs387906338
1000 genomesrs387906338
hgdprs387906338
ensemblrs387906338
gopubmedrs387906338
geneviewrs387906338
scholarrs387906338
googlers387906338
pharmgkbrs387906338
gwascentralrs387906338
openSNPrs387906338
23andMers387906338
23andMe allrs387906338
SNP Nexus

SNPshotrs387906338
SNPdbers387906338
MSV3drs387906338
GWAS Ctlgrs387906338
Max Magnitude0
ClinVar
Risk rs387906338(;)
Alt rs387906338(;)
Reference rs387906338(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,