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rs104894212

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894212(G;T)
Make rs104894212(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position71438966
GeneDHCR7
is asnp
is mentioned by
dbSNPrs104894212
ebirs104894212
HLIrs104894212
Exacrs104894212
Varsomers104894212
Maprs104894212
PheGenIrs104894212
hapmaprs104894212
1000 genomesrs104894212
hgdprs104894212
ensemblrs104894212
gopubmedrs104894212
geneviewrs104894212
scholarrs104894212
googlers104894212
pharmgkbrs104894212
gwascentralrs104894212
openSNPrs104894212
23andMers104894212
23andMe allrs104894212
SNP Nexus

SNPshotrs104894212
SNPdbers104894212
MSV3drs104894212
GWAS Ctlgrs104894212
Merged fromRs28939698
Max Magnitude0
OMIM602858
Desc
Variant0008
Relatedalso
ClinVar
Risk rs104894212(T;T)
Alt rs104894212(T;T)
Reference rs104894212(G;G)
Significance Pathogenic
Disease Smith-Lemli-Opitz syndrome
Variation info
Gene DHCR7
CLNDBN Smith-Lemli-Opitz syndrome
Reversed 1
HGVS NC_000011.9:g.71150012C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007184.5,