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rs104894213

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894213(A;A)
Make rs104894213(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position71441400
GeneDHCR7
is asnp
is mentioned by
dbSNPrs104894213
ebirs104894213
HLIrs104894213
Exacrs104894213
Varsomers104894213
Maprs104894213
PheGenIrs104894213
hapmaprs104894213
1000 genomesrs104894213
hgdprs104894213
ensemblrs104894213
gopubmedrs104894213
geneviewrs104894213
scholarrs104894213
googlers104894213
pharmgkbrs104894213
gwascentralrs104894213
openSNPrs104894213
23andMers104894213
23andMe allrs104894213
SNP Nexus

SNPshotrs104894213
SNPdbers104894213
MSV3drs104894213
GWAS Ctlgrs104894213
Max Magnitude0
OMIM602858
Desc
Variant0010
Relatedalso
ClinVar
Risk rs104894213(A;A)
Alt rs104894213(A;A)
Reference rs104894213(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.71152446C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007186.3,