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rs746482788

From SNPedia
Revision as of 10:59, 22 July 2017 by JlickBot (talk | contribs) (Update Rsnum - Set: Chromosome geno1 geno2 geno3 Gene position Gene_s Assembly GenomeBuild dbSNPBuild)
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Orientationplus
Stabilizedplus
Geno Mag Summary
(GCTACCTGCAGGAGTCACGGCCCCCTCCTGGAT;GCTACCTGCAGGAGTCACGGCCCCCTCCTGGAT) 0 common in clinvar
Make rs746482788(-;-)
Make rs746482788(-;GCTACCTGCAGGAGTCACGGCCCCCTCCTGGAT)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position71442258
GeneDHCR7
is asnp
is mentioned by
dbSNPrs746482788
dbSNP (classic)rs746482788
ClinGenrs746482788
ebirs746482788
HLIrs746482788
Exacrs746482788
Gnomadrs746482788
Varsomers746482788
LitVarrs746482788
Maprs746482788
PheGenIrs746482788
Biobankrs746482788
1000 genomesrs746482788
hgdprs746482788
ensemblrs746482788
geneviewrs746482788
scholarrs746482788
googlers746482788
pharmgkbrs746482788
gwascentralrs746482788
openSNPrs746482788
23andMers746482788
SNPshotrs746482788
SNPdbers746482788
MSV3drs746482788
GWAS Ctlgrs746482788
Max Magnitude0
ClinVar
Risk rs746482788(-;-)
Alt rs746482788(-;-)
Reference Rs746482788(GCTACCTGCAGGAGTCACGGCCCCCTCCTGGAT;GCTACCTGCAGGAGTCACGGCCCCCTCCTGGAT)
Significance Probable-Pathogenic
Disease Smith-Lemli-Opitz syndrome
Variation info
Gene DHCR7
CLNDBN Smith-Lemli-Opitz syndrome
Reversed 0
HGVS NC_000011.9:g.71153304_71153336del33
CLNSRC
CLNACC RCV000411588.1,


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