rs119475041

Orientation

minus

Stabilized

minus

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

Make rs119475041(A;A)

Make rs119475041(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

54875134

Gene

DHCR24

is a	snp
is	mentioned by
dbSNP	rs119475041
dbSNP (classic)	rs119475041
ClinGen	rs119475041
ebi	rs119475041
HLI	rs119475041
Exac	rs119475041
Gnomad	rs119475041
Varsome	rs119475041
LitVar	rs119475041
Map	rs119475041
PheGenI	rs119475041
Biobank	rs119475041
1000 genomes	rs119475041
hgdp	rs119475041
ensembl	rs119475041
geneview	rs119475041
scholar	rs119475041
google	rs119475041
pharmgkb	rs119475041
gwascentral	rs119475041
openSNP	rs119475041
23andMe	rs119475041
SNPshot	rs119475041
SNPdbe	rs119475041
MSV3d	rs119475041
GWAS Ctlg	rs119475041

Merged from

Rs28939093

Max Magnitude

0

OMIM	606418
Desc
Variant	0003
Related	also

ClinVar
Risk	rs119475041(A;A) rs119475041(C;C)
Alt	rs119475041(A;A) rs119475041(C;C)
Reference	Rs119475041(G;G)
Significance	Pathogenic
Disease	Desmosterolosis
Variation	info
Gene	DHCR24
CLNDBN	Desmosterolosis
Reversed	1
HGVS	NC_000001.10:g.55340807C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004617.2,