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

rs750345068

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs750345068(C;T)
Make rs750345068(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position71444203
GeneDHCR7
is asnp
is mentioned by
dbSNPrs750345068
ebirs750345068
HLIrs750345068
Exacrs750345068
Varsomers750345068
Maprs750345068
PheGenIrs750345068
hapmaprs750345068
1000 genomesrs750345068
hgdprs750345068
ensemblrs750345068
gopubmedrs750345068
geneviewrs750345068
scholarrs750345068
googlers750345068
pharmgkbrs750345068
gwascentralrs750345068
openSNPrs750345068
23andMers750345068
23andMe allrs750345068
SNP Nexus

SNPshotrs750345068
SNPdbers750345068
MSV3drs750345068
GWAS Ctlgrs750345068
Max Magnitude0
ClinVar
Risk rs750345068(T;T)
Alt rs750345068(T;T)
Reference rs750345068(C;C)
Significance Probable-Pathogenic
Disease Smith-Lemli-Opitz syndrome
Variation info
Gene DHCR7
CLNDBN Smith-Lemli-Opitz syndrome
Reversed 0
HGVS NC_000011.9:g.71155249C>T
CLNSRC
CLNACC RCV000169596.1,