rs119482082

Orientation

minus

Stabilized

minus

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

Make rs119482082(G;G)

Make rs119482082(G;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

92080044

Gene

SPTLC1

is a	snp
is	mentioned by
dbSNP	rs119482082
dbSNP (classic)	rs119482082
ClinGen	rs119482082
ebi	rs119482082
HLI	rs119482082
Exac	rs119482082
Gnomad	rs119482082
Varsome	rs119482082
LitVar	rs119482082
Map	rs119482082
PheGenI	rs119482082
Biobank	rs119482082
1000 genomes	rs119482082
hgdp	rs119482082
ensembl	rs119482082
geneview	rs119482082
scholar	rs119482082
google	rs119482082
pharmgkb	rs119482082
gwascentral	rs119482082
openSNP	rs119482082
23andMe	rs119482082
SNPshot	rs119482082
SNPdbe	rs119482082
MSV3d	rs119482082
GWAS Ctlg	rs119482082

Max Magnitude

0

OMIM	605712
Desc
Variant	0002
Related	also

ClinVar
Risk	rs119482082(G;G)
Alt	rs119482082(G;G)
Reference	Rs119482082(T;T)
Significance	Pathogenic
Disease	Neuropathy hereditary sensory and autonomic type 1
Variation	info
Gene	SPTLC1
CLNDBN	Neuropathy hereditary sensory and autonomic type 1
Reversed	1
HGVS	NC_000009.11:g.94842326A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005070.2,