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rs1057516877

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516877(-;C)
Make rs1057516877(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position34649417
GeneGALT
is asnp
is mentioned by
dbSNPrs1057516877
dbSNP (old)rs1057516877
ClinGenrs1057516877
ebirs1057516877
HLIrs1057516877
Exacrs1057516877
Gnomadrs1057516877
Varsomers1057516877
LitVarrs1057516877
Maprs1057516877
PheGenIrs1057516877
Biobankrs1057516877
1000 genomesrs1057516877
hgdprs1057516877
ensemblrs1057516877
gopubmedrs1057516877
geneviewrs1057516877
scholarrs1057516877
googlers1057516877
pharmgkbrs1057516877
gwascentralrs1057516877
openSNPrs1057516877
23andMers1057516877
23andMe allrs1057516877
SNPshotrs1057516877
SNPdbers1057516877
MSV3drs1057516877
GWAS Ctlgrs1057516877
Max Magnitude0
ClinVar
Risk rs1057516877(C;C)
Alt rs1057516877(C;C)
Reference Rs1057516877(-;-)
Significance Probable-Pathogenic
Disease Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Variation info
Gene GALT
CLNDBN Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Reversed 0
HGVS NC_000009.11:g.34649414dupC
CLNSRC
CLNACC RCV000409549.1,