rs267607090

Orientation

minus

Stabilized

minus

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

Make rs267607090(A;A)

Make rs267607090(A;G)

Reference

GRCh38 38.1/141

Chromosome

14

Position

77555401

Gene

SPTLC2

is a	snp
is	mentioned by
dbSNP	rs267607090
dbSNP (classic)	rs267607090
ClinGen	rs267607090
ebi	rs267607090
HLI	rs267607090
Exac	rs267607090
Gnomad	rs267607090
Varsome	rs267607090
LitVar	rs267607090
Map	rs267607090
PheGenI	rs267607090
Biobank	rs267607090
1000 genomes	rs267607090
hgdp	rs267607090
ensembl	rs267607090
geneview	rs267607090
scholar	rs267607090
google	rs267607090
pharmgkb	rs267607090
gwascentral	rs267607090
openSNP	rs267607090
23andMe	rs267607090
SNPshot	rs267607090
SNPdbe	rs267607090
MSV3d	rs267607090
GWAS Ctlg	rs267607090

Max Magnitude

0

ClinVar
Risk	rs267607090(A;A)
Alt	rs267607090(A;A)
Reference	Rs267607090(G;G)
Significance	Pathogenic
Disease	NEUROPATHY
Variation	info
Gene	SPTLC2
CLNDBN	NEUROPATHY, HEREDITARY SENSORY, TYPE IC
Reversed	1
HGVS	NC_000014.8:g.78021744C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005065.3,