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Table 3 Significant results of single variant testing for variants with less than 10 copies. Twenty-three rare variants with less than 10 minor allele copies were identified for a single phenotype (longevity). These variants clustered in two families with high trait exceptionality scores for longevity. Genes in bold have a previously published relationship to longevity [9, 29–34]

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

chr

Position (hg19)

rsID

gene

Function

Ref

Variant

Minor Allele Count

MAF

N

Beta

SE

P-value

7

17385235

 

AHR

UTR3

A

G

5

0.0006

810

3.58

0.71

6.18E-07

11

27680107

rs8192466

BDNF

nsyn-exonic

A

G

8

0.0009

810

5.02

1.01

7.41E-07

16

57015065

 

CETP

intronic

T

C

3

0.0004

809

5.00

1.01

8.69E-07

1

207813049

 

CR1

UTR3

A

G

5

0.0006

810

5.02

1.01

7.41E-07

8

6735377

 

DEFB1

nsyn-exonic

T

C

1

0.0001

809

5.03

1.01

7.22E-07

10

71139772

 

HK1

nsyn-exonic

T

C

1

0.0001

794

5.04

1.01

6.53E-07

1

209959231

 

IRF6

UTR3

G

A

4

0.0005

810

3.58

0.71

6.18E-07

21

35195906

 

ITSN1

syn-exonic

A

C

1

0.0001

810

5.02

1.01

7.41E-07

15

100256347

 

MEF2A

UTR3

C

T

2

0.0002

810

5.02

1.01

7.41E-07

1

12073445

 

MFN2

UTR3

T

C

3

0.0003

810

5.07

1.01

6.10E-07

4

100544175

 

MTTP

UTR3

G

A

1

0.0001

810

5.07

1.01

6.10E-07

2

1794502

 

MYT1L

UTR3

T

C

1

0.0001

810

5.02

1.01

7.41E-07

16

50267300

 

PAPD5

UTR3

T

C

4

0.0005

810

3.58

0.71

6.18E-07

2

223158616

 

PAX3

UTR3

T

C

3

0.0003

810

3.58

0.71

6.18E-07

7

95214257

 

PDK4

UTR3

G

A

2

0.0002

810

5.07

1.01

6.10E-07

5

149206403

rs374853976

PPARGC1B

syn-exonic

A

G

1

0.0001

714

5.07

1.00

4.72E-07

10

99130549

 

RRP12

nsyn-exonic

T

C

1

0.0001

780

5.02

1.01

7.66E-07

17

28525015

rs199875985

SLC6A4

UTR3

G

A

1

0.0001

810

5.07

1.01

6.10E-07

15

67479818

rs144245324

SMAD3

syn-exonic

T

C

3

0.0004

767

5.02

1.02

9.22E-07

3

24163883

 

THRB

UTR3

T

C

7

0.0008

810

3.58

0.71

6.18E-07

14

81610971

 

TSHR

UTR3

A

G

2

0.0002

810

5.07

1.01

6.10E-07

21

46189291

 

UBE2G2

UTR3

T

C

3

0.0004

810

5.02

1.01

7.41E-07

19

9770038

 

ZNF562

intronic

T

G

2

0.0002

810

3.58

0.71

6.18E-07