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rs373306653

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs373306653(A;G)
Make rs373306653(G;G)
ReferenceGRCh38.p7 38.3/149
Chromosome11
Position71435665
GeneDHCR7
is asnp
is mentioned by
dbSNPrs373306653
dbSNP (classic)rs373306653
ClinGenrs373306653
ebirs373306653
HLIrs373306653
Exacrs373306653
Gnomadrs373306653
Varsomers373306653
LitVarrs373306653
Maprs373306653
PheGenIrs373306653
Biobankrs373306653
1000 genomesrs373306653
hgdprs373306653
ensemblrs373306653
geneviewrs373306653
scholarrs373306653
googlers373306653
pharmgkbrs373306653
gwascentralrs373306653
openSNPrs373306653
23andMers373306653
23andMe allrs373306653
SNPshotrs373306653
SNPdbers373306653
MSV3drs373306653
GWAS Ctlgrs373306653
Max Magnitude0
ClinVar
Risk rs373306653(G;G)
Alt rs373306653(G;G)
Reference Rs373306653(A;A)
Significance Probable-Pathogenic
Disease Smith-Lemli-Opitz syndrome
Variation info
Gene DHCR7
CLNDBN Smith-Lemli-Opitz syndrome
Reversed 0
HGVS NC_000011.9:g.71146711A>G
CLNSRC
CLNACC RCV000408382.1,