rs121907986

Orientation

plus

Stabilized

plus

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

Make rs121907986(C;T)

Make rs121907986(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

74713584

Gene

HEXB

is a	snp
is	mentioned by
dbSNP	rs121907986
dbSNP (classic)	rs121907986
ClinGen	rs121907986
ebi	rs121907986
HLI	rs121907986
Exac	rs121907986
Gnomad	rs121907986
Varsome	rs121907986
LitVar	rs121907986
Map	rs121907986
PheGenI	rs121907986
Biobank	rs121907986
1000 genomes	rs121907986
hgdp	rs121907986
ensembl	rs121907986
geneview	rs121907986
scholar	rs121907986
google	rs121907986
pharmgkb	rs121907986
gwascentral	rs121907986
openSNP	rs121907986
23andMe	rs121907986
SNPshot	rs121907986
SNPdbe	rs121907986
MSV3d	rs121907986
GWAS Ctlg	rs121907986

Max Magnitude

0

OMIM	606873
Desc
Variant	0017
Related	also

ClinVar
Risk	rs121907986(T;T)
Alt	rs121907986(T;T)
Reference	Rs121907986(C;C)
Significance	Pathogenic
Disease	Sandhoff disease Sandhoff disease
Variation	info
Gene	HEXB
CLNDBN	Sandhoff disease, infantile Sandhoff disease
Reversed	0
HGVS	NC_000005.9:g.74009409C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004091.2, RCV000184012.1,