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rs61757582

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs61757582(A;A)
Make rs61757582(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position71435593
GeneDHCR7
is asnp
is mentioned by
dbSNPrs61757582
ebirs61757582
HLIrs61757582
Exacrs61757582
Varsomers61757582
Maprs61757582
PheGenIrs61757582
hapmaprs61757582
1000 genomesrs61757582
hgdprs61757582
ensemblrs61757582
gopubmedrs61757582
geneviewrs61757582
scholarrs61757582
googlers61757582
pharmgkbrs61757582
gwascentralrs61757582
openSNPrs61757582
23andMers61757582
23andMe allrs61757582
SNP Nexus

SNPshotrs61757582
SNPdbers61757582
MSV3drs61757582
GWAS Ctlgrs61757582
Max Magnitude0
OMIM602858
Desc
Variant0014
Relatedalso


ClinVar
Risk rs61757582(A;A)
Alt rs61757582(A;A)
Reference rs61757582(G;G)
Significance Pathogenic
Disease Smith-Lemli-Opitz syndrome
Variation info
Gene DHCR7
CLNDBN Smith-Lemli-Opitz syndrome
Reversed 0
HGVS NC_000011.9:g.71146639G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007190.4,



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


[PMID 16207203OA-icon.png] Recent insights into the Smith-Lemli-Opitz syndrome.