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rs80338853

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338853(C;T)
Make rs80338853(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position71444036
GeneDHCR7
is asnp
is mentioned by
dbSNPrs80338853
ebirs80338853
HLIrs80338853
Exacrs80338853
Varsomers80338853
Maprs80338853
PheGenIrs80338853
hapmaprs80338853
1000 genomesrs80338853
hgdprs80338853
ensemblrs80338853
gopubmedrs80338853
geneviewrs80338853
scholarrs80338853
googlers80338853
pharmgkbrs80338853
gwascentralrs80338853
openSNPrs80338853
23andMers80338853
23andMe allrs80338853
SNP Nexus

SNPshotrs80338853
SNPdbers80338853
MSV3drs80338853
GWAS Ctlgrs80338853
Max Magnitude0
OMIM602858
Desc
Variant0009
Relatedalso
ClinVar
Risk rs80338853(T;T)
Alt rs80338853(T;T)
Reference rs80338853(C;C)
Significance Pathogenic
Disease Smith-Lemli-Opitz syndrome not provided
Variation info
Gene DHCR7
CLNDBN Smith-Lemli-Opitz syndrome not provided
Reversed 1
HGVS NC_000011.9:g.71155082G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000007185.4, RCV000079651.3,


[PMID 162072] Physiotherapy in certain aspects of psychosomatic medicine.


[PMID 9653161OA-icon.png] Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome.


[PMID 10602371] Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of delta7-sterol reductase in Italy and report of three novel mutations.


[PMID 11175299] Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations.


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


[PMID 17965227] Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations.