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rs80338863

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338863(C;C)
Make rs80338863(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position71437944
GeneDHCR7
is asnp
is mentioned by
dbSNPrs80338863
ebirs80338863
HLIrs80338863
Exacrs80338863
Varsomers80338863
Maprs80338863
PheGenIrs80338863
hapmaprs80338863
1000 genomesrs80338863
hgdprs80338863
ensemblrs80338863
gopubmedrs80338863
geneviewrs80338863
scholarrs80338863
googlers80338863
pharmgkbrs80338863
gwascentralrs80338863
openSNPrs80338863
23andMers80338863
23andMe allrs80338863
SNP Nexus

SNPshotrs80338863
SNPdbers80338863
MSV3drs80338863
GWAS Ctlgrs80338863
Max Magnitude0
OMIM602858
Desc
Variant0001
Relatedalso
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 9634533OA-icon.png] 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.