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rs80338860

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338860(C;T)
Make rs80338860(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position71435749
GeneDHCR7
is asnp
is mentioned by
dbSNPrs80338860
ebirs80338860
HLIrs80338860
Exacrs80338860
Varsomers80338860
Maprs80338860
PheGenIrs80338860
hapmaprs80338860
1000 genomesrs80338860
hgdprs80338860
ensemblrs80338860
gopubmedrs80338860
geneviewrs80338860
scholarrs80338860
googlers80338860
pharmgkbrs80338860
gwascentralrs80338860
openSNPrs80338860
23andMers80338860
23andMe allrs80338860
SNP Nexus

SNPshotrs80338860
SNPdbers80338860
MSV3drs80338860
GWAS Ctlgrs80338860
Max Magnitude0
OMIM602858
Desc
Variant0013
Relatedalso
ClinVar
Risk rs80338860(T;T)
Alt rs80338860(T;T)
Reference rs80338860(C;C)
Significance Pathogenic
Disease Smith-Lemli-Opitz syndrome
Variation info
Gene DHCR7
CLNDBN Smith-Lemli-Opitz syndrome
Reversed 1
HGVS NC_000011.9:g.71146795G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007189.3,


[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.