Rs1053874

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Orientationplus
is asnp
is mentioned by
dbSNPrs1053874
PheGenIrs1053874
nextbiors1053874
hapmaprs1053874
1000 genomesrs1053874
hgdprs1053874
ensemblrs1053874
gopubmedrs1053874
geneviewrs1053874
scholarrs1053874
googlers1053874
pharmgkbrs1053874
gwascentralrs1053874
openSNPrs1053874
23andMers1053874
23andMe allrs1053874
SNP Nexus

SNPshotrs1053874
SNPdbers1053874
MSV3drs1053874
GeneDNASE1, TRAP1
Chromosome16
Orientationplus
GMAF0.4862
Position3707747
ReferenceGRCh37.p2 37.2/134
Max Magnitude
Make rs1053874(A;A)
Make rs1053874(A;G)
Make rs1053874(G;G)
? (A;A) (A;G) (G;G) 28
OMIM125505
Desc
Variant0002
Relatedalso


ClinVar
Risk rs1053874(A;A)
Alt rs1053874(A;A)
Reference rs1053874(G;G)
Significance 255
Disease Systemic lupus erythematosus
ClinVar info, info
Gene TRAP1, DNASE1
CLNDBN Systemic lupus erythematosus, susceptibility to
Reversed 0
CLNHGVS NC_000016.9:g.3707747G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018346.1



[PMID 15569484] Single nucleotide polymorphisms of deoxyribonuclease I and their expression in Chinese systemic lupus erythematosus patients.


[PMID 16449364] Association of a non-synonymous single-nucleotide polymorphism of DNASEI with SLE susceptibility.


GET Evidence
DNASE1-R244Q
aa_change Arg244Gln
aa_change_short R244Q
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.453337
summary