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rs1048047

From SNPedia

Orientationplus
Stabilizedplus
Make rs1048047(A;A)
Make rs1048047(A;G)
Make rs1048047(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position2903380
GeneSLC22A18, SLC22A18AS
is asnp
is mentioned by
dbSNPrs1048047
ebirs1048047
HLIrs1048047
Exacrs1048047
Varsomers1048047
Maprs1048047
PheGenIrs1048047
hapmaprs1048047
1000 genomesrs1048047
hgdprs1048047
ensemblrs1048047
gopubmedrs1048047
geneviewrs1048047
scholarrs1048047
googlers1048047
pharmgkbrs1048047
gwascentralrs1048047
openSNPrs1048047
23andMers1048047
23andMe allrs1048047
SNP Nexus

SNPshotrs1048047
SNPdbers1048047
MSV3drs1048047
GWAS Ctlgrs1048047
GMAF0.3916
Max Magnitude
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene SLC22A18
allele A
frequency
sift
HuRef 1103649588400
Disease Association Defects in SLC22A18 are associated with tumor formation including breast and lung cancer, and rhabdomyosarcoma.



[PMID 20644730OA-icon.png] Telomeric NAP1L4 and OSBPL5 of the KCNQ1 cluster, and the DECORIN gene are not imprinted in human trophoblast stem cells.


GET Evidence
SLC22A18-R12Q
aa_change Arg12Gln
aa_change_short R12Q
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.542581
summary