rs1057516640

Orientation

minus

Stabilized

minus

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

Make rs1057516640(-;-)

Make rs1057516640(-;CGACGAGGCCT)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

72375780

Gene	HEXA, HEXA-AS1

is a	snp
is	mentioned by
dbSNP	rs1057516640
dbSNP (classic)	rs1057516640
ClinGen	rs1057516640
ebi	rs1057516640
HLI	rs1057516640
Exac	rs1057516640
Gnomad	rs1057516640
Varsome	rs1057516640
LitVar	rs1057516640
Map	rs1057516640
PheGenI	rs1057516640
Biobank	rs1057516640
1000 genomes	rs1057516640
hgdp	rs1057516640
ensembl	rs1057516640
geneview	rs1057516640
scholar	rs1057516640
google	rs1057516640
pharmgkb	rs1057516640
gwascentral	rs1057516640
openSNP	rs1057516640
23andMe	rs1057516640
SNPshot	rs1057516640
SNPdbe	rs1057516640
MSV3d	rs1057516640
GWAS Ctlg	rs1057516640

Max Magnitude

0

ClinVar
Risk	rs1057516640(-;-)
Alt	rs1057516640(-;-)
Reference	Rs1057516640(CGACGAGGCCT;CGACGAGGCCT)
Significance	Probable-Pathogenic
Disease	Tay-Sachs disease
Variation	info
Gene	HEXA-AS1 HEXA
CLNDBN	Tay-Sachs disease
Reversed	1
HGVS	NC_000015.9:g.72668121_72668131delAGGCCTCGTCG
CLNSRC
CLNACC	RCV000410519.1,