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rs1057518843

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518843(A;A)
Make rs1057518843(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position87988523
GeneGALC
is asnp
is mentioned by
dbSNPrs1057518843
dbSNP (old)rs1057518843
ClinGenrs1057518843
ebirs1057518843
HLIrs1057518843
Exacrs1057518843
Gnomadrs1057518843
Varsomers1057518843
Maprs1057518843
PheGenIrs1057518843
Biobankrs1057518843
1000 genomesrs1057518843
hgdprs1057518843
ensemblrs1057518843
gopubmedrs1057518843
geneviewrs1057518843
scholarrs1057518843
googlers1057518843
pharmgkbrs1057518843
gwascentralrs1057518843
openSNPrs1057518843
23andMers1057518843
23andMe allrs1057518843
SNPshotrs1057518843
SNPdbers1057518843
MSV3drs1057518843
GWAS Ctlgrs1057518843
Max Magnitude0
ClinVar
Risk rs1057518843(A;A)
Alt rs1057518843(A;A)
Reference Rs1057518843(G;G)
Significance Probable-Pathogenic
Disease Amblyopia Breech presentation Developmental regression Dysmyelinating leukodystrophy EEG abnormality EMG abnormality EMG: axonal abnormality Global developmental delay Hemiparesis Intrauterine growth retardation Leukodystrophy Loss of ability to walk Neonatal hypoglycemia Nystagmus Progressive visual loss Seizures Small for gestational age Status epilepticus Strabismus
Variation info
Gene GALC
CLNDBN Amblyopia Breech presentation Developmental regression Dysmyelinating leukodystrophy EEG abnormality EMG abnormality EMG: axonal abnormality Global developmental delay Hemiparesis Intrauterine growth retardation Leukodystrophy Loss of ability to walk Neonatal hypoglycemia Nystagmus Progressive visual loss Seizures Small for gestational age Status epilepticus Strabismus
Reversed 1
HGVS NC_000014.8:g.88454867C>T
CLNSRC
CLNACC RCV000415102.1,