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rs756564881

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs756564881(A;A)
Make rs756564881(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position71444871
GeneDHCR7
is asnp
is mentioned by
dbSNPrs756564881
dbSNP (classic)rs756564881
ClinGenrs756564881
ebirs756564881
HLIrs756564881
Exacrs756564881
Gnomadrs756564881
Varsomers756564881
LitVarrs756564881
Maprs756564881
PheGenIrs756564881
Biobankrs756564881
1000 genomesrs756564881
hgdprs756564881
ensemblrs756564881
geneviewrs756564881
scholarrs756564881
googlers756564881
pharmgkbrs756564881
gwascentralrs756564881
openSNPrs756564881
23andMers756564881
SNPshotrs756564881
SNPdbers756564881
MSV3drs756564881
GWAS Ctlgrs756564881
Max Magnitude0
ClinVar
Risk rs756564881(A;A)
Alt rs756564881(A;A)
Reference Rs756564881(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.71155917G>A
CLNSRC
CLNACC RCV000411258.1,