rs104894296

Orientation

plus

Stabilized

plus

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

Make rs104894296(A;A)

Make rs104894296(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

121307244

Gene

SC5D

is a	snp
is	mentioned by
dbSNP	rs104894296
dbSNP (classic)	rs104894296
ClinGen	rs104894296
ebi	rs104894296
HLI	rs104894296
Exac	rs104894296
Gnomad	rs104894296
Varsome	rs104894296
LitVar	rs104894296
Map	rs104894296
PheGenI	rs104894296
Biobank	rs104894296
1000 genomes	rs104894296
hgdp	rs104894296
ensembl	rs104894296
geneview	rs104894296
scholar	rs104894296
google	rs104894296
pharmgkb	rs104894296
gwascentral	rs104894296
openSNP	rs104894296
23andMe	rs104894296
SNPshot	rs104894296
SNPdbe	rs104894296
MSV3d	rs104894296
GWAS Ctlg	rs104894296

Max Magnitude

0

OMIM	602286
Desc
Variant	0002
Related	also

ClinVar
Risk	rs104894296(A;A)
Alt	rs104894296(A;A)
Reference	Rs104894296(G;G)
Significance	Pathogenic
Disease	Lathosterolosis
Variation	info
Gene	SC5D
CLNDBN	Lathosterolosis
Reversed	0
HGVS	NC_000011.9:g.121177953G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007780.4,