rs281797257

Orientation

plus

Stabilized

plus

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

Make rs281797257(G;G)

Make rs281797257(G;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

54865442

Gene

DHCR24

is a	snp
is	mentioned by
dbSNP	rs281797257
dbSNP (classic)	rs281797257
ClinGen	rs281797257
ebi	rs281797257
HLI	rs281797257
Exac	rs281797257
Gnomad	rs281797257
Varsome	rs281797257
LitVar	rs281797257
Map	rs281797257
PheGenI	rs281797257
Biobank	rs281797257
1000 genomes	rs281797257
hgdp	rs281797257
ensembl	rs281797257
geneview	rs281797257
scholar	rs281797257
google	rs281797257
pharmgkb	rs281797257
gwascentral	rs281797257
openSNP	rs281797257
23andMe	rs281797257
SNPshot	rs281797257
SNPdbe	rs281797257
MSV3d	rs281797257
GWAS Ctlg	rs281797257

Max Magnitude

0

ClinVar
Risk	rs281797257(G;G)
Alt	rs281797257(G;G)
Reference	Rs281797257(T;T)
Significance	Pathogenic
Disease	Desmosterolosis
Variation	info
Gene	DHCR24
CLNDBN	Desmosterolosis
Reversed	0
HGVS	NC_000001.10:g.55331115T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004616.4,