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rs4630153

From SNPedia

Orientationplus
Stabilizedplus
Make rs4630153(C;T)
Make rs4630153(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position63415881
GeneALG6
is asnp
is mentioned by
dbSNPrs4630153
ebirs4630153
HLIrs4630153
Exacrs4630153
Varsomers4630153
Maprs4630153
PheGenIrs4630153
hapmaprs4630153
1000 genomesrs4630153
hgdprs4630153
ensemblrs4630153
gopubmedrs4630153
geneviewrs4630153
scholarrs4630153
googlers4630153
pharmgkbrs4630153
gwascentralrs4630153
openSNPrs4630153
23andMers4630153
23andMe allrs4630153
SNP Nexus

SNPshotrs4630153
SNPdbers4630153
MSV3drs4630153
GWAS Ctlgrs4630153
Merged fromRs17856039
GMAF0.219
Max Magnitude
OMIM604566
DescCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic
Variant0002
Relatedalso


GET Evidence
ALG6-S304F
aa_change Ser304Phe
aa_change_short S304F
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.825
summary



ClinVar
Risk rs4630153(T;T)
Alt rs4630153(T;T)
Reference rs4630153(C;C)
Significance Other
Disease not specified
Variation info
Gene ALG6
CLNDBN not specified
Reversed 0
HGVS NC_000001.10:g.63881552C>T
CLNSRC ClinVar Emory University University of Chicago
CLNACC RCV000081560.7,