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rs1136743

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1136743(C;T)
Make rs1136743(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position18269312
GeneSAA1
is asnp
is mentioned by
dbSNPrs1136743
ebirs1136743
HLIrs1136743
Exacrs1136743
Varsomers1136743
Maprs1136743
PheGenIrs1136743
hapmaprs1136743
1000 genomesrs1136743
hgdprs1136743
ensemblrs1136743
gopubmedrs1136743
geneviewrs1136743
scholarrs1136743
googlers1136743
pharmgkbrs1136743
gwascentralrs1136743
openSNPrs1136743
23andMers1136743
23andMe allrs1136743
SNP Nexus

SNPshotrs1136743
SNPdbers1136743
MSV3drs1136743
GWAS Ctlgrs1136743
Merged fromRs17856195
GMAF0.4761
Max Magnitude0
Venter snp
Source plos
Gene SAA1
allele T
frequency
sift TOLERATED
HuRef 1103649621118
Disease Association TH is from a patient with juvenile rheumatoid arthritis.


Neighborrs1136747
Distance15
Neighborrs17856195
Distance1
OMIM104750
Desc
Variant0002
Relatedalso
ClinVar
Risk rs1136743(T;T)
Alt rs1136743(T;T)
Reference rs1136743(C;C)
Significance Pathogenic
Disease Serum amyloid a variant
Variation info
Gene SAA1
CLNDBN Serum amyloid a variant
Reversed 0
HGVS NC_000011.9:g.18290859C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019736.27,


[PMID 18389087OA-icon.png] Rarity of Somatic Mutation and Frequency of Normal Sequence Variation Detected in Sporadic Colon Adenocarcinoma Using High-Throughput cDNA Sequencing.