rs104894295

Orientation

plus

Stabilized

plus

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

Make rs104894295(A;A)

Make rs104894295(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

121303461

Gene

SC5D

is a	snp
is	mentioned by
dbSNP	rs104894295
dbSNP (classic)	rs104894295
ClinGen	rs104894295
ebi	rs104894295
HLI	rs104894295
Exac	rs104894295
Gnomad	rs104894295
Varsome	rs104894295
LitVar	rs104894295
Map	rs104894295
PheGenI	rs104894295
Biobank	rs104894295
1000 genomes	rs104894295
hgdp	rs104894295
ensembl	rs104894295
geneview	rs104894295
scholar	rs104894295
google	rs104894295
pharmgkb	rs104894295
gwascentral	rs104894295
openSNP	rs104894295
23andMe	rs104894295
SNPshot	rs104894295
SNPdbe	rs104894295
MSV3d	rs104894295
GWAS Ctlg	rs104894295

Max Magnitude

0

OMIM	602286
Desc
Variant	0001
Related	also

ClinVar
Risk	rs104894295(A;A)
Alt	rs104894295(A;A)
Reference	Rs104894295(G;G)
Significance	Pathogenic
Disease	Lathosterolosis
Variation	info
Gene	SC5D
CLNDBN	Lathosterolosis
Reversed	0
HGVS	NC_000011.9:g.121174170G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007779.2,