Have questions? Visit https://www.reddit.com/r/SNPedia

rs11555217

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs11555217(A;A)
Make rs11555217(A;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position71441401
GeneDHCR7
is asnp
is mentioned by
dbSNPrs11555217
ebirs11555217
HLIrs11555217
Exacrs11555217
Varsomers11555217
Maprs11555217
PheGenIrs11555217
hapmaprs11555217
1000 genomesrs11555217
hgdprs11555217
ensemblrs11555217
gopubmedrs11555217
geneviewrs11555217
scholarrs11555217
googlers11555217
pharmgkbrs11555217
gwascentralrs11555217
openSNPrs11555217
23andMers11555217
23andMe allrs11555217
SNP Nexus

SNPshotrs11555217
SNPdbers11555217
MSV3drs11555217
GWAS Ctlgrs11555217
Max Magnitude0
OMIM602858
Desc
Variant0010
Relatedalso


ClinVar
Risk rs11555217(A,C;A,C)
Alt rs11555217(A,C;A,C)
Reference rs11555217(G;G)
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.71152447C>T
CLNSRC HGMD
CLNACC RCV000020436.6, RCV000079655.3,



[PMID 10677299OA-icon.png] Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.

[PMID 11078571] Homozygosity for the W151X stop mutation in the delta7-sterol reductase gene (DHCR7) causing a lethal form of Smith-Lemli-Opitz syndrome: retrospective molecular diagnosis.

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

[PMID 15521979] DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome.

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