Table 3 Coding variants in NRXN1 and HTR2A

From: Integrating evolutionary and regulatory information with a multispecies approach implicates genes and pathways in obsessive-compulsive disorder

Chr:pos

Ref

Alt

rsID

OCD allele freq.

Ctrl allele freq.

ExAC allele freq.

Amino acid change

Candidate variant from sequencing

NRXN1

 chr2:50149133

C

T

rs113380721

0.0019

0.0030

0.0033

Syn

No

 chr2:50149214

A

G

rs112536447

0.0001

0.0010

0.0003

Syn

No

 chr2:50280604

T

C

rs79970751

0.0088

0.0070

0.0058

Syn

No

 chr2:50463984

G

A

rs147580960

0.0009

0.0006

0

Syn

Yes

 chr2:50464065

C

T

rs80094872

0.0009

0.0003

0a

Syn

Yes

 chr2:50699479

G

A

rs75275592

0.0009

0.0013

0.0010

Syn

No

 chr2:50723068

G

A

rs56402642

0.0034

0.0001

0.0018

Syn

Yes

 chr2:50724642

A

G

none

0.0009

0

0

I>T

Yes

 chr2:50724745

G

T

rs201818223

0.0017

0.0009

0.0011

L>M

Yes

 chr2:50733745

G

C

rs147984237

0.0017

0

1.5 × 10−5

Syn

Yes

 chr2:50765412

G

T

rs56086732

0.0089

0.0028

0.0056

L>I

Yes

 chr2:50765589

T

C

rs200074974

0.0016

0

0.0011

I>V

Yes

 chr2:50779791

C

T

None

0.0008

0

0a

A>T

Yes

 chr2:50779943

T

C

None

0.0009

0

0a

N>S

Yes

 chr2:50847195

G

A

rs78540316

0.0077

0.0036

0.0043

P>S

Yes

 chr2:50850686

G

A

rs2303298

0.0107

0.0013

0.0038

Syn

Yes

HTR2A

 chr13:47409048

G

A

rs6308

0.0036

0.0012

0.0023

A>V

Yes

 chr13:47409701

G

A

rs141413930

0.0020

0.0012

0.0026a

Syn

Yes

 chr13:47409149

T

A

rs35224115

0.0019

0.0047

0.0044

Syn

No

 chr13:47466622

G

A

rs6305

0.0386

0.0225

0.027b

Syn

Yes

  1. ExAC allele freq. shown for NFE population
  2. aExcluded from ExAC analysis because of low-confidence call from pooled sequencing
  3. bExcluded from ExAC analysis because of frequency >0.01