rs80338863

minus

Geno	Mag	Summary
(C;G)	3	Unaffected carrier of a Smith-Lemli-Opitz syndrome mutation
(G;G)	0	common in clinvar

Make rs80338863(C;C)

Reference

GRCh38 38.1/141

Chromosome

11

Position

71437944

Gene

DHCR7

is a	snp
is	mentioned by
dbSNP	rs80338863
dbSNP (classic)	rs80338863
ClinGen	rs80338863
ebi	rs80338863
HLI	rs80338863
Exac	rs80338863
Gnomad	rs80338863
Varsome	rs80338863
LitVar	rs80338863
Map	rs80338863
PheGenI	rs80338863
Biobank	rs80338863
1000 genomes	rs80338863
hgdp	rs80338863
ensembl	rs80338863
geneview	rs80338863
scholar	rs80338863
google	rs80338863
pharmgkb	rs80338863
gwascentral	rs80338863
openSNP	rs80338863
23andMe	rs80338863
SNPshot	rs80338863
SNPdbe	rs80338863
MSV3d	rs80338863
GWAS Ctlg	rs80338863

Max Magnitude

3

OMIM	602858
Desc
Variant	0001
Related	also

ClinVar
Risk	rs80338863(C;C)
Alt	rs80338863(C;C)
Reference	Rs80338863(G;G)
Significance	Pathogenic
Disease	Smith-Lemli-Opitz syndrome
Variation	info
Gene	DHCR7
CLNDBN	Smith-Lemli-Opitz syndrome
Reversed	1
HGVS	NC_000011.9:g.71148990C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007178.4,

[PMID 968361] [Content of nitrites and nitrates in Polish meat products].

[PMID 9634533 ] Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome.

[PMID 10995508] Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotyping.

[PMID 11298379] DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome.

[PMID 11562938] Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G-->C genotype.

[PMID 15952211] DHCR7 mutations in Brazilian Smith-Lemli-Opitz syndrome patients.