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rs1060499773

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060499773(C;T)
Make rs1060499773(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position36209731
GeneEPB41L1
is asnp
is mentioned by
dbSNPrs1060499773
dbSNP (old)rs1060499773
ClinGenrs1060499773
ebirs1060499773
HLIrs1060499773
Exacrs1060499773
Gnomadrs1060499773
Varsomers1060499773
Maprs1060499773
PheGenIrs1060499773
Biobankrs1060499773
1000 genomesrs1060499773
hgdprs1060499773
ensemblrs1060499773
gopubmedrs1060499773
geneviewrs1060499773
scholarrs1060499773
googlers1060499773
pharmgkbrs1060499773
gwascentralrs1060499773
openSNPrs1060499773
23andMers1060499773
23andMe allrs1060499773
SNPshotrs1060499773
SNPdbers1060499773
MSV3drs1060499773
GWAS Ctlgrs1060499773
Max Magnitude0
ClinVar
Risk rs1060499773(T;T)
Alt rs1060499773(T;T)
Reference Rs1060499773(C;C)
Significance Probable-Pathogenic
Disease Abnormality of brain morphology
Variation info
Gene EPB41L1
CLNDBN Abnormality of brain morphology
Reversed 0
HGVS NC_000020.10:g.34797653C>T
CLNSRC
CLNACC RCV000454281.1,