rs267607087

Orientation

minus

Stabilized

minus

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

Make rs267607087(C;T)

Make rs267607087(T;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

92047261

Gene

SPTLC1

is a	snp
is	mentioned by
dbSNP	rs267607087
dbSNP (classic)	rs267607087
ClinGen	rs267607087
ebi	rs267607087
HLI	rs267607087
Exac	rs267607087
Gnomad	rs267607087
Varsome	rs267607087
LitVar	rs267607087
Map	rs267607087
PheGenI	rs267607087
Biobank	rs267607087
1000 genomes	rs267607087
hgdp	rs267607087
ensembl	rs267607087
geneview	rs267607087
scholar	rs267607087
google	rs267607087
pharmgkb	rs267607087
gwascentral	rs267607087
openSNP	rs267607087
23andMe	rs267607087
SNPshot	rs267607087
SNPdbe	rs267607087
MSV3d	rs267607087
GWAS Ctlg	rs267607087

Max Magnitude

0

ClinVar
Risk	rs267607087(A;A) rs267607087(T;T)
Alt	rs267607087(A;A) rs267607087(T;T)
Reference	Rs267607087(C;C)
Significance	Pathogenic
Disease	Neuropathy not provided
Variation	info
Gene	SPTLC1
CLNDBN	Neuropathy, hereditary sensory and autonomic, type I, severe not provided
Reversed	1
HGVS	NC_000009.11:g.94809543G>A; NC_000009.11:g.94809543G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005071.2, RCV000414705.1,