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rs1057517307

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517307(A;A)
Make rs1057517307(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position71441441
GeneDHCR7
is asnp
is mentioned by
dbSNPrs1057517307
dbSNP (old)rs1057517307
ClinGenrs1057517307
ebirs1057517307
HLIrs1057517307
Exacrs1057517307
Gnomadrs1057517307
Varsomers1057517307
LitVarrs1057517307
Maprs1057517307
PheGenIrs1057517307
Biobankrs1057517307
1000 genomesrs1057517307
hgdprs1057517307
ensemblrs1057517307
gopubmedrs1057517307
geneviewrs1057517307
scholarrs1057517307
googlers1057517307
pharmgkbrs1057517307
gwascentralrs1057517307
openSNPrs1057517307
23andMers1057517307
23andMe allrs1057517307
SNPshotrs1057517307
SNPdbers1057517307
MSV3drs1057517307
GWAS Ctlgrs1057517307
Max Magnitude0
ClinVar
Risk rs1057517307(A;A)
Alt rs1057517307(A;A)
Reference Rs1057517307(G;G)
Significance Probable-Pathogenic
Disease Smith-Lemli-Opitz syndrome
Variation info
Gene DHCR7
CLNDBN Smith-Lemli-Opitz syndrome
Reversed 1
HGVS NC_000011.9:g.71152487C>T
CLNSRC
CLNACC RCV000409542.1,