rs1057517187

Orientation

minus

Stabilized

minus

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

Make rs1057517187(-;-)

Make rs1057517187(-;GGCGGGGTGAGCGGC)

Reference

GRCh38.p7 38.3/150

Chromosome

14

Position

87992961

Gene

GALC

is a	snp
is	mentioned by
dbSNP	rs1057517187
dbSNP (classic)	rs1057517187
ClinGen	rs1057517187
ebi	rs1057517187
HLI	rs1057517187
Exac	rs1057517187
Gnomad	rs1057517187
Varsome	rs1057517187
LitVar	rs1057517187
Map	rs1057517187
PheGenI	rs1057517187
Biobank	rs1057517187
1000 genomes	rs1057517187
hgdp	rs1057517187
ensembl	rs1057517187
geneview	rs1057517187
scholar	rs1057517187
google	rs1057517187
pharmgkb	rs1057517187
gwascentral	rs1057517187
openSNP	rs1057517187
23andMe	rs1057517187
SNPshot	rs1057517187
SNPdbe	rs1057517187
MSV3d	rs1057517187
GWAS Ctlg	rs1057517187

Max Magnitude

0

ClinVar
Risk	rs1057517187(-;-)
Alt	rs1057517187(-;-)
Reference	Rs1057517187(GGCGGGGTGAGCGGC;GGCGGGGTGAGCGGC)
Significance	Probable-Pathogenic
Disease	Galactosylceramide beta-galactosidase deficiency
Variation	info
Gene	GALC
CLNDBN	Galactosylceramide beta-galactosidase deficiency
Reversed	1
HGVS	NC_000014.8:g.88459305_88459319delGCCGCTCACCCCGCC
CLNSRC
CLNACC	RCV000410838.1,