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rs1040835

From SNPedia

Orientationminus
Stabilizedplus
Make rs1040835(A;A)
Make rs1040835(A;G)
Make rs1040835(G;G)
ReferenceGRCh38 38.1/142
Chromosome14
Position92810309
GeneGOLGA5
is asnp
is mentioned by
dbSNPrs1040835
ebirs1040835
HLIrs1040835
Exacrs1040835
Varsomers1040835
Maprs1040835
PheGenIrs1040835
hapmaprs1040835
1000 genomesrs1040835
hgdprs1040835
ensemblrs1040835
gopubmedrs1040835
geneviewrs1040835
scholarrs1040835
googlers1040835
pharmgkbrs1040835
gwascentralrs1040835
openSNPrs1040835
23andMers1040835
23andMe allrs1040835
SNP Nexus

SNPshotrs1040835
SNPdbers1040835
MSV3drs1040835
GWAS Ctlgrs1040835
GMAF0.1832
Max Magnitude
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene GOLGA5
allele C
frequency 0.667
sift TOLERATED
HuRef 1103649130466
Disease Association A chromosomal aberration involving GOLGA5 is a cause of thyroid papillary carcinomas (PACT) (MIM:188550). Translocation t(10;14)(q11;q32) with RET. The translocation generates the RET/GOLGA5 (PTC5) oncogene which was found in 2 cases of PACT in children exposed to radioactive fallout after Chernobyl.



GET Evidence
GOLGA5-F350L
aa_change Phe350Leu
aa_change_short F350L
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.799684
summary