rs119482084

Orientation

minus

Stabilized

minus

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

Make rs119482084(C;C)

Make rs119482084(C;G)

Reference

GRCh38 38.1/141

Chromosome

9

Position

92038342

Gene

SPTLC1

is a	snp
is	mentioned by
dbSNP	rs119482084
dbSNP (classic)	rs119482084
ClinGen	rs119482084
ebi	rs119482084
HLI	rs119482084
Exac	rs119482084
Gnomad	rs119482084
Varsome	rs119482084
LitVar	rs119482084
Map	rs119482084
PheGenI	rs119482084
Biobank	rs119482084
1000 genomes	rs119482084
hgdp	rs119482084
ensembl	rs119482084
geneview	rs119482084
scholar	rs119482084
google	rs119482084
pharmgkb	rs119482084
gwascentral	rs119482084
openSNP	rs119482084
23andMe	rs119482084
SNPshot	rs119482084
SNPdbe	rs119482084
MSV3d	rs119482084
GWAS Ctlg	rs119482084

GMAF

0.0009183

Max Magnitude

0

OMIM	605712
Desc
Variant	0004
Related	also

ClinVar
Risk	rs119482084(A;A) rs119482084(C;C)
Alt	rs119482084(A;A) rs119482084(C;C)
Reference	Rs119482084(G;G)
Significance	Pathogenic
Disease	Neuropathy hereditary sensory and autonomic type 1 not specified
Variation	info
Gene	SPTLC1
CLNDBN	Neuropathy hereditary sensory and autonomic type 1 not specified
Reversed	1
HGVS	NC_000009.11:g.94800624C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005069.2, RCV000216582.2,