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rs104886033

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104886033(A;G)
Make rs104886033(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position71444952
GeneDHCR7
is asnp
is mentioned by
dbSNPrs104886033
ebirs104886033
HLIrs104886033
Exacrs104886033
Varsomers104886033
Maprs104886033
PheGenIrs104886033
hapmaprs104886033
1000 genomesrs104886033
hgdprs104886033
ensemblrs104886033
gopubmedrs104886033
geneviewrs104886033
scholarrs104886033
googlers104886033
pharmgkbrs104886033
gwascentralrs104886033
openSNPrs104886033
23andMers104886033
23andMe allrs104886033
SNP Nexus

SNPshotrs104886033
SNPdbers104886033
MSV3drs104886033
GWAS Ctlgrs104886033
Max Magnitude0
OMIM602858
Desc
Variant0020
Relatedalso
ClinVar
Risk rs104886033(G;G)
Alt rs104886033(G;G)
Reference rs104886033(A;A)
Significance Other
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.71155998T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000169384.2, RCV000224026.1,


[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.