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rs2285644

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0
Make rs2285644(C;T)
Make rs2285644(T;T)
ReferenceGRCh38 38.1/142
Chromosome17
Position44251253
GeneSLC4A1
is asnp
is mentioned by
dbSNPrs2285644
ebirs2285644
HLIrs2285644
Exacrs2285644
Varsomers2285644
Maprs2285644
PheGenIrs2285644
hapmaprs2285644
1000 genomesrs2285644
hgdprs2285644
ensemblrs2285644
gopubmedrs2285644
geneviewrs2285644
scholarrs2285644
googlers2285644
pharmgkbrs2285644
gwascentralrs2285644
openSNPrs2285644
23andMers2285644
23andMe allrs2285644
SNP Nexus

SNPshotrs2285644
SNPdbers2285644
MSV3drs2285644
GWAS Ctlgrs2285644
GMAF0.01423
Max Magnitude0
? (C;C) (C;T) (T;T) 28
OMIM109270
DescDIEGO BLOOD GROUP ANTIGEN
Variant0017
Relatedalso
Neighborrs28931585
Distance47


ClinVar
Risk rs2285644(T;T)
Alt rs2285644(T;T)
Reference rs2285644(C;C)
Significance Pathogenic
Disease DIEGO BLOOD GROUP ANTIGEN
Variation info
Gene SLC4A1
CLNDBN DIEGO BLOOD GROUP ANTIGEN
Reversed 1
HGVS NC_000017.10:g.42328621G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019345.28,



[PMID 21257350OA-icon.png] DNA-based methods in the immunohematology reference laboratory.


GET Evidence
SLC4A1-P854L
aa_change Pro854Leu
aa_change_short P854L
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.000836586
summary



Non-ABO Blood Groups