rs80356768

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(CCTTGCCCTGAACCCCGAAGGAGGACCCAATTGGGTGCGTAACTTTGTCGACAGT;CCTTGCCCTGAACCCCGAAGGAGGACCCAATTGGGTGCGTAACTTTGTCGACAGT)	0	common in complete genomics
(CTTGCCCTGAACCCCGAAGGAGGACCCAATTGGGTGCGTAACTTTGTCGACAGTC;CTTGCCCTGAACCCCGAAGGAGGACCCAATTGGGTGCGTAACTTTGTCGACAGTC)	0	common in clinvar
(TTGCCCTGAACCCCGAAGGAGGACCCAATTGGGTGCGTAACTTTGTCGACAGTCC;TTGCCCTGAACCCCGAAGGAGGACCCAATTGGGTGCGTAACTTTGTCGACAGTCC)	0	common in clinvar

Make rs80356768(-;-)

Make rs80356768(-;CCTTGCCCTGAACCCCGAAGGAGGACCCAATTGGGTGCGTAACTTTGTCGACAGT)

Reference

GRCh37 37.1/132

Chromosome

1

Position

155235752

Gene

GBA

is a	snp
is	mentioned by
dbSNP	rs80356768
dbSNP (classic)	rs80356768
ClinGen	rs80356768
ebi	rs80356768
HLI	rs80356768
Exac	rs80356768
Gnomad	rs80356768
Varsome	rs80356768
LitVar	rs80356768
Map	rs80356768
PheGenI	rs80356768
Biobank	rs80356768
1000 genomes	rs80356768
hgdp	rs80356768
ensembl	rs80356768
geneview	rs80356768
scholar	rs80356768
google	rs80356768
pharmgkb	rs80356768
gwascentral	rs80356768
openSNP	rs80356768
23andMe	rs80356768
SNPshot	rs80356768
SNPdbe	rs80356768
MSV3d	rs80356768
GWAS Ctlg	rs80356768

Max Magnitude

0

OMIM	606463
Desc
Variant	0023
Related	also

ClinVar
Risk	rs80356768(-;-)
Alt	rs80356768(-;-)
Reference	Rs80356768(TTGCCCTGAACCCCGAAGGAGGACCCAATTGGGTGCGTAACTTTGTCGACAGTCC;TTGCCCTGAACCCCGAAGGAGGACCCAATTGGGTGCGTAACTTTGTCGACAGTCC)
Significance	Pathogenic
Disease	Gaucher disease Gaucher disease Gaucher's disease
Variation	info
Gene	GBA
CLNDBN	Gaucher disease, perinatal lethal Gaucher disease Gaucher's disease, type 1
Reversed	1
HGVS	NC_000001.10:g.155205541_155205595del55
CLNSRC	OMIM Allelic Variant dbVar
CLNACC	RCV000004555.5, RCV000020147.2, RCV000173718.2,

[PMID 8432537] Identification of six new Gaucher disease mutations.

[PMID 10685993] Type 2 Gaucher disease: the collodion baby phenotype revisited.