rs104894297

Orientation

plus

Stabilized

plus

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

Make rs104894297(A;C)

Make rs104894297(C;C)

Reference

GRCh38 38.1/141

Chromosome

11

Position

121303512

Gene

SC5D

is a	snp
is	mentioned by
dbSNP	rs104894297
dbSNP (classic)	rs104894297
ClinGen	rs104894297
ebi	rs104894297
HLI	rs104894297
Exac	rs104894297
Gnomad	rs104894297
Varsome	rs104894297
LitVar	rs104894297
Map	rs104894297
PheGenI	rs104894297
Biobank	rs104894297
1000 genomes	rs104894297
hgdp	rs104894297
ensembl	rs104894297
geneview	rs104894297
scholar	rs104894297
google	rs104894297
pharmgkb	rs104894297
gwascentral	rs104894297
openSNP	rs104894297
23andMe	rs104894297
SNPshot	rs104894297
SNPdbe	rs104894297
MSV3d	rs104894297
GWAS Ctlg	rs104894297

Max Magnitude

0

OMIM	602286
Desc
Variant	0003
Related	also

ClinVar
Risk	rs104894297(C;C)
Alt	rs104894297(C;C)
Reference	Rs104894297(A;A)
Significance	Pathogenic
Disease	Lathosterolosis
Variation	info
Gene	SC5D
CLNDBN	Lathosterolosis
Reversed	0
HGVS	NC_000011.9:g.121174221A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007781.2,