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rs199682486

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199682486(A;A)
Make rs199682486(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position63402348
GeneALG6
is asnp
is mentioned by
dbSNPrs199682486
ebirs199682486
HLIrs199682486
Exacrs199682486
Varsomers199682486
Maprs199682486
PheGenIrs199682486
hapmaprs199682486
1000 genomesrs199682486
hgdprs199682486
ensemblrs199682486
gopubmedrs199682486
geneviewrs199682486
scholarrs199682486
googlers199682486
pharmgkbrs199682486
gwascentralrs199682486
openSNPrs199682486
23andMers199682486
23andMe allrs199682486
SNP Nexus

SNPshotrs199682486
SNPdbers199682486
MSV3drs199682486
GWAS Ctlgrs199682486
Max Magnitude0
ClinVar
Risk rs199682486(A;A)
Alt rs199682486(A;A)
Reference rs199682486(G;G)
Significance Pathogenic
Disease not provided Congenital disorder of glycosylation type 1C
Variation info
Gene ALG6
CLNDBN not provided Congenital disorder of glycosylation type 1C
Reversed 0
HGVS NC_000001.10:g.63868019G>A
CLNSRC HGMD
CLNACC RCV000081557.4, RCV000192479.1,