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rs103612

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;T) 0
Make rs103612(C;C)
Make rs103612(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position131144705
GeneNUP214
is asnp
is mentioned by
dbSNPrs103612
ebirs103612
HLIrs103612
Exacrs103612
Varsomers103612
Maprs103612
PheGenIrs103612
hapmaprs103612
1000 genomesrs103612
hgdprs103612
ensemblrs103612
gopubmedrs103612
geneviewrs103612
scholarrs103612
googlers103612
pharmgkbrs103612
gwascentralrs103612
openSNPrs103612
23andMers103612
23andMe allrs103612
SNP Nexus

SNPshotrs103612
SNPdbers103612
MSV3drs103612
GWAS Ctlgrs103612
GMAF0.3343
Max Magnitude0
? (C;C) (C;T) (T;T) 28


Venter snp
Source plos
Gene NUP214
allele T
frequency 0.683
sift TOLERATED
HuRef 1103652194601
Disease Association A chromosomal aberration involving NUP214 is found in some cases of acute undifferentiated leukemia (AUL). Translocation t(6;9)(q21;q34.1) with SET.



GET Evidence
NUP214-P574S
aa_change Pro574Ser
aa_change_short P574S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.672616
summary