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rs786200926

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs786200926(A;T)
Make rs786200926(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position71442260
GeneDHCR7
is asnp
is mentioned by
dbSNPrs786200926
ebirs786200926
HLIrs786200926
Exacrs786200926
Varsomers786200926
Maprs786200926
PheGenIrs786200926
hapmaprs786200926
1000 genomesrs786200926
hgdprs786200926
ensemblrs786200926
gopubmedrs786200926
geneviewrs786200926
scholarrs786200926
googlers786200926
pharmgkbrs786200926
gwascentralrs786200926
openSNPrs786200926
23andMers786200926
23andMe allrs786200926
SNP Nexus

SNPshotrs786200926
SNPdbers786200926
MSV3drs786200926
GWAS Ctlgrs786200926
Max Magnitude0
ClinVar
Risk rs786200926(T;T)
Alt rs786200926(T;T)
Reference rs786200926(A;A)
Significance Pathogenic
Disease Smith-Lemli-Opitz syndrome
Variation info
Gene DHCR7
CLNDBN Smith-Lemli-Opitz syndrome
Reversed 1
HGVS NC_000011.9:g.71153306T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023212.5,