rs121907985

Orientation

plus

Stabilized

plus

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

Make rs121907985(C;T)

Make rs121907985(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

74720644

Gene

HEXB

is a	snp
is	mentioned by
dbSNP	rs121907985
dbSNP (classic)	rs121907985
ClinGen	rs121907985
ebi	rs121907985
HLI	rs121907985
Exac	rs121907985
Gnomad	rs121907985
Varsome	rs121907985
LitVar	rs121907985
Map	rs121907985
PheGenI	rs121907985
Biobank	rs121907985
1000 genomes	rs121907985
hgdp	rs121907985
ensembl	rs121907985
geneview	rs121907985
scholar	rs121907985
google	rs121907985
pharmgkb	rs121907985
gwascentral	rs121907985
openSNP	rs121907985
23andMe	rs121907985
SNPshot	rs121907985
SNPdbe	rs121907985
MSV3d	rs121907985
GWAS Ctlg	rs121907985

Max Magnitude

0

OMIM	606873
Desc
Variant	0014
Related	also

ClinVar
Risk	rs121907985(T;T)
Alt	rs121907985(T;T)
Reference	Rs121907985(C;C)
Significance	Pathogenic
Disease	Sandhoff disease
Variation	info
Gene	HEXB
CLNDBN	Sandhoff disease, chronic
Reversed	0
HGVS	NC_000005.9:g.74016469C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004088.2,