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rs28938174

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs28938174(A;T)
Make rs28938174(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position71442319
GeneDHCR7
is asnp
is mentioned by
dbSNPrs28938174
ebirs28938174
HLIrs28938174
Exacrs28938174
Varsomers28938174
Maprs28938174
PheGenIrs28938174
hapmaprs28938174
1000 genomesrs28938174
hgdprs28938174
ensemblrs28938174
gopubmedrs28938174
geneviewrs28938174
scholarrs28938174
googlers28938174
pharmgkbrs28938174
gwascentralrs28938174
openSNPrs28938174
23andMers28938174
23andMe allrs28938174
SNP Nexus

SNPshotrs28938174
SNPdbers28938174
MSV3drs28938174
GWAS Ctlgrs28938174
Max Magnitude0
OMIM602858
DescSMITH-LEMLI-OPITZ SYNDROME
Variant0005
Relatedalso


ClinVar
Risk rs28938174(T;T)
Alt rs28938174(T;T)
Reference rs28938174(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.71153365T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007182.6,