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rs143312232

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;C) 3 Unaffected carrier of a Smith-Lemli-Opitz syndrome mutation
(G;G) 0 common in clinvar
Make rs143312232(C;C)
Make rs143312232(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position71441392
GeneDHCR7
is asnp
is mentioned by
dbSNPrs143312232
ebirs143312232
HLIrs143312232
Exacrs143312232
Varsomers143312232
Maprs143312232
PheGenIrs143312232
hapmaprs143312232
1000 genomesrs143312232
hgdprs143312232
ensemblrs143312232
gopubmedrs143312232
geneviewrs143312232
scholarrs143312232
googlers143312232
pharmgkbrs143312232
gwascentralrs143312232
openSNPrs143312232
23andMers143312232
23andMe allrs143312232
SNP Nexus

SNPshotrs143312232
SNPdbers143312232
MSV3drs143312232
GWAS Ctlgrs143312232
Max Magnitude3
ClinVar
Risk rs143312232(A,C;A,C)
Alt rs143312232(A,C;A,C)
Reference rs143312232(G;G)
Significance Probable-Pathogenic
Disease Smith-Lemli-Opitz syndrome not provided
Variation info
Gene DHCR7
CLNDBN Smith-Lemli-Opitz syndrome not provided
Reversed 0
HGVS NC_000011.9:g.71152438G>A; NC_000011.9:g.71152438G>C
CLNSRC HGMD
CLNACC RCV000169290.1, RCV000153143.2, RCV000179381.1,