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rs121434309

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434309(A;A)
Make rs121434309(A;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position48411859
GeneLPAR6, RB1
is asnp
is mentioned by
dbSNPrs121434309
dbSNP (classic)rs121434309
ClinGenrs121434309
ebirs121434309
HLIrs121434309
Exacrs121434309
Gnomadrs121434309
Varsomers121434309
LitVarrs121434309
Maprs121434309
PheGenIrs121434309
Biobankrs121434309
1000 genomesrs121434309
hgdprs121434309
ensemblrs121434309
geneviewrs121434309
scholarrs121434309
googlers121434309
pharmgkbrs121434309
gwascentralrs121434309
openSNPrs121434309
23andMers121434309
SNPshotrs121434309
SNPdbers121434309
MSV3drs121434309
GWAS Ctlgrs121434309
Max Magnitude0
OMIM609239
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121434309(A;A)
Alt rs121434309(A;A)
Reference Rs121434309(G;G)
Significance Pathogenic
Disease Hypotrichosis 8
Variation info
Gene RB1 LPAR6
CLNDBN Hypotrichosis 8
Reversed 1
HGVS NC_000013.10:g.48985995C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000001903.3,