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Table 2 Homozygous by descent regions of the families

From: Exome sequencing identifies novel and known mutations in families with intellectual disability

S. no.

Family ID

HBD region (hg19)

SNP ID

Cytoband

Size (Mb)

Candidate gene

1

MRID126

Chr2: 83,570,115–84,550,988

rs11894798–rs6715601

p11.2

0.9

 

Chr14: 43,433,535–44,634,641

rs1756339–rs12432423

q21.1–q21.2

1.2

 

2

MRID137a

Chr9: 33,345,616–44,866,028

rs706134–rs6606438

p13.3–p11.2

11.5

GNE

Chr9: 68,170,421–72,174,392

rs10120296–rs1970017

q13–q21.11

4

 

3

MRID137b

Chr11: 64,333,296–68,033,925

rs1783811–rs7342161

q13.1–q13.2

3.7

CCS

Chr14: 84,223,764–88,646,827

rs1958453–rs1631092

q31.2–q31.3

4.4

 

4

MRID143

Chr5:34,043,649–68,044,120

rs890948–rs6898649

p13.2–q13.1

34

NNT, C5orf42

Chr12: 67,044,058–68,434,014

rs1871549–rs721793

q14.3–q15

1.3

 

5

MRID149

Chr6: 42,091,645–44,568,740

rs9471773–rs618617

p21.1

2.4

 

Chr7: 144,429,379–148,195,384

rs228587–rs749609

q35–q36.1

3.7

 

ChrX: 13,849,695–31,782,780

rs7066605–rs16998223

p22.2–p21.1

17.9

ARX

ChrX: 124,102,283–154,916,845

rs2356746–rs669237

q25–q28

30.8

 

6

MRID165

Chr2: 143,230,267–149,936,767

rs4550612–rs2377510

q22.2–q23.2

6.7

 

Chr3: 115,484,045–125,881,122

rs11929078–rs4679208

q13.31–q21.3

10.3

 

Chr4: 182,591,864–186,893,350

rs13144599–rs830829

q34.3–q4-35.1

4.3

 

ChrX: 21,213,147–42,759,963

rs9645473–rs205820

p22.12–p11.3

21.5

IL1RAPL1

7

MRID170

Chr1: 187,967,161–192,598,635

rs7543364–rs7553821

q31.1–q31.2

4.6

 

Chr7: 17,110,253–25,112,709

rs819367–rs12537364

p21.1–p15.3

8

 

Chr13: 24,430,875–27,392,427

rs7325694–rs2149132

q12.12–q12.13

2.96

 

Chr18: 2,168,420–4,312,630

rs11659972–rs3850787

p11.32–p11.31

2.14

METTL4

8

MRID175

Chr4: 166,882,179–175,964,181

rs7696087–rs1842178

q32.3–q34.1

9.08

 

Chr7: 44,935–22,233,813

rs7456436–rs3813383

p22.3–p15.3

22.1

ABCB5, ELFN1, C7orf50

Chr4: 4,339,626–6,427,757

rs6833372–rs4469149

p16.3–p16.1

2.08

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