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rs80338864

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338864(A;A)
Make rs80338864(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position71435461
GeneDHCR7
is asnp
is mentioned by
dbSNPrs80338864
ebirs80338864
HLIrs80338864
Exacrs80338864
Varsomers80338864
Maprs80338864
PheGenIrs80338864
hapmaprs80338864
1000 genomesrs80338864
hgdprs80338864
ensemblrs80338864
gopubmedrs80338864
geneviewrs80338864
scholarrs80338864
googlers80338864
pharmgkbrs80338864
gwascentralrs80338864
openSNPrs80338864
23andMers80338864
23andMe allrs80338864
SNP Nexus

SNPshotrs80338864
SNPdbers80338864
MSV3drs80338864
GWAS Ctlgrs80338864
Max Magnitude0
OMIM602858
Desc
Variant0018
Relatedalso
ClinVar
Risk rs80338864(A;A)
Alt rs80338864(A;A)
Reference rs80338864(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.71146507C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000020435.3, RCV000079643.3,


[PMID 12949967] Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome.


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