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rs104886034

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104886034(A;A)
Make rs104886034(A;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position71444165
GeneDHCR7
is asnp
is mentioned by
dbSNPrs104886034
ebirs104886034
HLIrs104886034
Exacrs104886034
Varsomers104886034
Maprs104886034
PheGenIrs104886034
hapmaprs104886034
1000 genomesrs104886034
hgdprs104886034
ensemblrs104886034
gopubmedrs104886034
geneviewrs104886034
scholarrs104886034
googlers104886034
pharmgkbrs104886034
gwascentralrs104886034
openSNPrs104886034
23andMers104886034
23andMe allrs104886034
SNP Nexus

SNPshotrs104886034
SNPdbers104886034
MSV3drs104886034
GWAS Ctlgrs104886034
Max Magnitude0
ClinVar
Risk rs104886034(A;A)
Alt rs104886034(A;A)
Reference rs104886034(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.71155211G>T
CLNSRC
CLNACC


[PMID 15776424] Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy.