Have questions? Visit https://www.reddit.com/r/SNPedia

rs398123607

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123607(A;A)
Make rs398123607(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position71437934
GeneDHCR7
is asnp
is mentioned by
dbSNPrs398123607
ebirs398123607
HLIrs398123607
Exacrs398123607
Varsomers398123607
Maprs398123607
PheGenIrs398123607
hapmaprs398123607
1000 genomesrs398123607
hgdprs398123607
ensemblrs398123607
gopubmedrs398123607
geneviewrs398123607
scholarrs398123607
googlers398123607
pharmgkbrs398123607
gwascentralrs398123607
openSNPrs398123607
23andMers398123607
23andMe allrs398123607
SNP Nexus

SNPshotrs398123607
SNPdbers398123607
MSV3drs398123607
GWAS Ctlgrs398123607
Max Magnitude0
ClinVar
Risk rs398123607(A;A)
Alt rs398123607(A;A)
Reference rs398123607(G;G)
Significance Pathogenic
Disease not provided Smith-Lemli-Opitz syndrome
Variation info
Gene DHCR7
CLNDBN not provided Smith-Lemli-Opitz syndrome
Reversed 1
HGVS NC_000011.9:g.71148980C>T
CLNSRC HGMD
CLNACC RCV000079660.3, RCV000180218.1,