rs1057518843

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs1057518843(A;A)

Make rs1057518843(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

14

Position

87988523

Gene

GALC

is a	snp
is	mentioned by
dbSNP	rs1057518843
dbSNP (classic)	rs1057518843
ClinGen	rs1057518843
ebi	rs1057518843
HLI	rs1057518843
Exac	rs1057518843
Gnomad	rs1057518843
Varsome	rs1057518843
LitVar	rs1057518843
Map	rs1057518843
PheGenI	rs1057518843
Biobank	rs1057518843
1000 genomes	rs1057518843
hgdp	rs1057518843
ensembl	rs1057518843
geneview	rs1057518843
scholar	rs1057518843
google	rs1057518843
pharmgkb	rs1057518843
gwascentral	rs1057518843
openSNP	rs1057518843
23andMe	rs1057518843
SNPshot	rs1057518843
SNPdbe	rs1057518843
MSV3d	rs1057518843
GWAS Ctlg	rs1057518843

Max Magnitude

0

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,