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Table 2 Significant results of single variant testing for variants with more than 10 copies. Nine single variants with at least 10 allelic copies were identified within five phenotypes. There were 6,613 variants analyzed across 426 genes for survival and cancer and 3,389 variants analyzed across 408 genes for HDL, LDL and triglycerides

From: Candidate gene resequencing to identify rare, pedigree-specific variants influencing healthy aging phenotypes in the long life family study

Phenotype (TE Score)

chr

Position (hg19)

rsID

gene

Function

Ref

Variant

MAF

N

Beta

SE

P-value

Survival

10

105642272

 

OBFC1

UTR3

C

G

0.002

810

3.58

0.71

6.2E-7

Cancer

15

99501295

 

IGF1R

UTR3

A

G

0.007

4210

0.58

0.13

3.7E-6

HDL Cholesterol

16

57005301

rs1532625

CETP

intron

T

C

0.38

3053

0.19

0.03

2.4E-13

 

16

57015091

rs5880

CETP

nsyn-exon

C

G

0.047

4049

−0.32

0.06

1.2E-8

 

16

57017319

rs1800777

CETP

nsyn-exon

A

G

0.029

3982

−0.40

0.07

8.1E-9

LDL Cholesterol

6

152679594

rs62426382

SYNE1

syn-exon

G

A

0.016

4035

0.45

0.09

1.6E-6

 

19

45396144

rs11556505

TOMM40

syn-exon

T

C

0.10

4018

−0.19

0.04

1.5E-6

 

19

45397229

rs1160983

TOMM40

syn-exon

A

G

0.02

2686

0.53

0.10

1.2E-7

Triglyceride

11

116703640

rs5128

APOC3

UTR3

G

C

0.09

4003

−0.21

0.04

1.2E-7