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rs1135062

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1135062(A;G)
Make rs1135062(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position44819487
GeneBCAM
is asnp
is mentioned by
dbSNPrs1135062
ebirs1135062
HLIrs1135062
Exacrs1135062
Varsomers1135062
Maprs1135062
PheGenIrs1135062
hapmaprs1135062
1000 genomesrs1135062
hgdprs1135062
ensemblrs1135062
gopubmedrs1135062
geneviewrs1135062
scholarrs1135062
googlers1135062
pharmgkbrs1135062
gwascentralrs1135062
openSNPrs1135062
23andMers1135062
23andMe allrs1135062
SNP Nexus

SNPshotrs1135062
SNPdbers1135062
MSV3drs1135062
GWAS Ctlgrs1135062
GMAF0.2645
Max Magnitude0
? (A;A) (A;G) (G;G) 28
OMIM111200
DescAUBERGER BLOOD GROUP POLYMORPHISM Au(a)/Au(b)
Variant0002
Relatedalso
OMIM612773
Desc
Variant0002
Relatedalso


ClinVar
Risk rs1135062(G;G)
Alt rs1135062(G;G)
Reference rs1135062(A;A)
Significance Non-pathogenic
Disease AUBERGER BLOOD GROUP POLYMORPHISM Au(a)/Au(b)
Variation info
Gene BCAM
CLNDBN AUBERGER BLOOD GROUP POLYMORPHISM Au(a)/Au(b)
Reversed 0
HGVS NC_000019.9:g.45322744A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000468.2,



GET Evidence
BCAM-T539A
aa_change Thr539Ala
aa_change_short T539A
impact benign
qualified_impact Insufficiently evaluated benign
overall_frequency 0.329429
summary Auberger blood group polymorphism