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rs774291653

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(I;I) 0 common genotype
Make rs774291653(-;-)
Make rs774291653(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position71435737
GeneDHCR7
is asnp
is mentioned by
dbSNPrs774291653
dbSNP (classic)rs774291653
ClinGenrs774291653
ebirs774291653
HLIrs774291653
Exacrs774291653
Gnomadrs774291653
Varsomers774291653
LitVarrs774291653
Maprs774291653
PheGenIrs774291653
Biobankrs774291653
1000 genomesrs774291653
hgdprs774291653
ensemblrs774291653
geneviewrs774291653
scholarrs774291653
googlers774291653
pharmgkbrs774291653
gwascentralrs774291653
openSNPrs774291653
23andMers774291653
SNPshotrs774291653
SNPdbers774291653
MSV3drs774291653
GWAS Ctlgrs774291653
Max Magnitude0
ClinVar
Risk rs774291653(-;-)
Alt rs774291653(-;-)
Reference Rs774291653(G;G)
Significance Probable-Pathogenic
Disease Smith-Lemli-Opitz syndrome
Variation info
Gene DHCR7
CLNDBN Smith-Lemli-Opitz syndrome
Reversed 0
HGVS NC_000011.9:g.71146783delG
CLNSRC
CLNACC RCV000409736.1,