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rs1799805

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1799805(A;A)
Make rs1799805(A;C)
ReferenceGRCh38 38.1/142
Chromosome7
Position100893176
GeneACHE
is asnp
is mentioned by
dbSNPrs1799805
ebirs1799805
HLIrs1799805
Exacrs1799805
Varsomers1799805
Maprs1799805
PheGenIrs1799805
hapmaprs1799805
1000 genomesrs1799805
hgdprs1799805
ensemblrs1799805
gopubmedrs1799805
geneviewrs1799805
scholarrs1799805
googlers1799805
pharmgkbrs1799805
gwascentralrs1799805
openSNPrs1799805
23andMers1799805
23andMe allrs1799805
SNP Nexus

SNPshotrs1799805
SNPdbers1799805
MSV3drs1799805
GWAS Ctlgrs1799805
GMAF0.02755
Max Magnitude0
? (A;A) (A;C) (C;C) 28
OMIM100740
Desc
Variant0001
Relatedalso


ClinVar
Risk rs1799805(A;A)
Alt rs1799805(A;A)
Reference rs1799805(C;C)
Significance Non-pathogenic
Disease YT BLOOD GROUP POLYMORPHISM
Variation info
Gene ACHE
CLNDBN YT BLOOD GROUP POLYMORPHISM
Reversed 1
HGVS NC_000007.13:g.100490797G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000020001.2,



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


GET Evidence
ACHE-H353N
aa_change His353Asn
aa_change_short H353N
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0342071
summary