rs28939092

Orientation

minus

Stabilized

minus

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

Make rs28939092(A;C)

Make rs28939092(C;C)

Reference

GRCh38 38.1/141

Chromosome

1

Position

54852372

Gene

DHCR24

is a	snp
is	mentioned by
dbSNP	rs28939092
dbSNP (classic)	rs28939092
ClinGen	rs28939092
ebi	rs28939092
HLI	rs28939092
Exac	rs28939092
Gnomad	rs28939092
Varsome	rs28939092
LitVar	rs28939092
Map	rs28939092
PheGenI	rs28939092
Biobank	rs28939092
1000 genomes	rs28939092
hgdp	rs28939092
ensembl	rs28939092
geneview	rs28939092
scholar	rs28939092
google	rs28939092
pharmgkb	rs28939092
gwascentral	rs28939092
openSNP	rs28939092
23andMe	rs28939092
SNPshot	rs28939092
SNPdbe	rs28939092
MSV3d	rs28939092
GWAS Ctlg	rs28939092

Max Magnitude

0

OMIM	606418
Desc	DESMOSTEROLOSIS
Variant	0001
Related	also

ClinVar
Risk	rs28939092(C;C)
Alt	rs28939092(C;C)
Reference	Rs28939092(A;A)
Significance	Pathogenic
Disease	Desmosterolosis
Variation	info
Gene	DHCR24
CLNDBN	Desmosterolosis
Reversed	1
HGVS	NC_000001.10:g.55318045T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004615.3,