rs119482083

Orientation

minus

Stabilized

minus

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

Make rs119482083(A;A)

Make rs119482083(A;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

92068095

Gene

SPTLC1

is a	snp
is	mentioned by
dbSNP	rs119482083
dbSNP (classic)	rs119482083
ClinGen	rs119482083
ebi	rs119482083
HLI	rs119482083
Exac	rs119482083
Gnomad	rs119482083
Varsome	rs119482083
LitVar	rs119482083
Map	rs119482083
PheGenI	rs119482083
Biobank	rs119482083
1000 genomes	rs119482083
hgdp	rs119482083
ensembl	rs119482083
geneview	rs119482083
scholar	rs119482083
google	rs119482083
pharmgkb	rs119482083
gwascentral	rs119482083
openSNP	rs119482083
23andMe	rs119482083
SNPshot	rs119482083
SNPdbe	rs119482083
MSV3d	rs119482083
GWAS Ctlg	rs119482083

Max Magnitude

0

OMIM	605712
Desc
Variant	0003
Related	also

ClinVar
Risk	rs119482083(A;A)
Alt	rs119482083(A;A)
Reference	Rs119482083(T;T)
Significance	Pathogenic
Disease	Neuropathy hereditary sensory and autonomic type 1 not provided
Variation	info
Gene	SPTLC1
CLNDBN	Neuropathy hereditary sensory and autonomic type 1 not provided
Reversed	1
HGVS	NC_000009.11:g.94830377A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005068.2, RCV000235837.1,