rs267607088

Orientation

minus

Stabilized

minus

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

Make rs267607088(C;T)

Make rs267607088(T;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

92047198

Gene

SPTLC1

is a	snp
is	mentioned by
dbSNP	rs267607088
dbSNP (classic)	rs267607088
ClinGen	rs267607088
ebi	rs267607088
HLI	rs267607088
Exac	rs267607088
Gnomad	rs267607088
Varsome	rs267607088
LitVar	rs267607088
Map	rs267607088
PheGenI	rs267607088
Biobank	rs267607088
1000 genomes	rs267607088
hgdp	rs267607088
ensembl	rs267607088
geneview	rs267607088
scholar	rs267607088
google	rs267607088
pharmgkb	rs267607088
gwascentral	rs267607088
openSNP	rs267607088
23andMe	rs267607088
SNPshot	rs267607088
SNPdbe	rs267607088
MSV3d	rs267607088
GWAS Ctlg	rs267607088

Max Magnitude

0

ClinVar
Risk	rs267607088(T;T)
Alt	rs267607088(T;T)
Reference	Rs267607088(C;C)
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.94809480G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005072.2,