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rs663048

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 1 Normal risk of developing lung cancer
(G;T) 2 Significantly increased risk of developing lung cancer
(T;T) 2.5 3x increased risk of developing lung cancer
ReferenceGRCh38 38.1/141
Chromosome22
Position26299111
GeneSEZ6L
is asnp
is mentioned by
dbSNPrs663048
ebirs663048
HLIrs663048
Exacrs663048
Varsomers663048
Maprs663048
PheGenIrs663048
hapmaprs663048
1000 genomesrs663048
hgdprs663048
ensemblrs663048
gopubmedrs663048
geneviewrs663048
scholarrs663048
googlers663048
pharmgkbrs663048
gwascentralrs663048
openSNPrs663048
23andMers663048
23andMe allrs663048
SNP Nexus

SNPshotrs663048
SNPdbers663048
MSV3drs663048
GWAS Ctlgrs663048
GMAF0.2071
Max Magnitude2.5
? (G;G) (G;T) (T;T) 28
rs663048 associated with lung cancer

The homozygotes for the variant allele had more than a 3-fold risk compared with the wild-type homozygotes [combined odds ratio (OR), 3.32; 95% confidence interval (95% CI), 1.81-7.21]. Heterozygotes also had a significantly elevated risk of lung cancer from the combined replication studies with an OR of 1.15 (95% CI, 1.04-1.59). The effect remained significant after adjusting for age, gender, and pack-years of tobacco smoke.007;67(17):8406-11]. [PMID 17804757]


Venter snp
Source plos
Gene SEZ6L
allele T
frequency 0.225
sift AFFECT FUNCTION
HuRef 1103691020349
Disease Association SEZ6L is located in a 22q region, which is frequently deleted in small cell lung carcinomas (SCLCs) and advanced non- small cell lung carcinomas.



GET Evidence
SEZ6L-M430I
aa_change Met430Ile
aa_change_short M430I
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.262502
summary