Table 2.

The Top Ten ROH Coldspots on Human Autosomes

Rank	Chr	Genomic Region (kb)			ROH Frequency			Content
		Begin	End	Length	Min	Mean	SD	miRNA	RefSeq Genes
1	3	195,095	195,561	466	0.015	0.019	0.004	−	CPN2, HES1, LRRC15, LOC100128023, LOC100131551
2	19	540	1,949	1,409	0.016	0.019	0.003	MIR3187, MIR1909	ABCA7, ADAMTSL5, ADAT3, APC2, ARID3A, ATP5D, ATP8B3, AZU1, BTBD, C19orf6, C19orf21, C19orf22, C19orf23, C19orf24, C19orf25, C19orf26, C19orf34, CFD,aCIRBP, CNN2, CSNK1G2, DAZAP1, EFNA2, ELANE, FAM108A1, FGF22, FSTL3, GAMT,bGPX4, GRIN3B, HCN2, HMHA1, KISS1R,cKLF16, LOC100288123, LPPR3, MBD3, MED16, MEX3D, MIDN, MUM1, NDUFS7,dONECUT3, PALM, PCSK4, PLK5P, POLR2E, POLRMT, PRSSL1, PRTN3, PTBP1, REEP6, REXO1, RNF126, RPS15, SBN02, SCAMP4, STK11,eTCF3, UQCR11, WDR18
3	10	131,492	131,693	200	0.017	0.020	0.002	MIR4297	EBF3
4	18	69,604	69,722	118	0.017	0.020	0.003	−	−
5	19	58,569	59,6067	1,036	0.015	0.021	0.003	C19MC, MIR371, MIR372, MIR373, MIR935	CACNG6, CACNG7, CACNG8, CNOT3, DPRX, LAIR1, LENG1, LILRA3, LILRA4, LILRA5, LILRA6, LILRB2, LILRB3, LILRB5, LOC284379, MBOAT7, MYADM, NDUFA3, NLRP12, OSCAR, PRKCG,fPRPF31,gRPS9, TARM1, TFPT, TMC4, TSEN34, VSTM1, ZNF331, ZNF525, ZNF761, ZNF765, ZNF813
6	6	41,512	41,719	207	0.016	0.021	0.003	−	FOXP4, MDFI
7	16	77,531	77,621	90	0.019	0.022	0.002	−	WWOX
8	19	2,959	3,743	785	0.016	0.022	0.004	−	AES, APBA3, C19orf28, C19orf29, C19orf71, C19orf77, CELF5, DOHH, FZR1, GIPC3, GNA11, GNA15, HMG20B, MATK, MRPL54, NCLN, NFIC, PIP5K1C, RAX2, S1PR4, TBXA2R, TJP3, TLE2
9	19	61,317	61,444	127	0.021	0.022	0.002	−	GALP, ZNF444, ZNF787, ZSCAN5A, ZSCAN5B
10	7	151,087	151,176	89	0.019	0.023	0.002	−	PRKAG2

The following abbreviations are used: Chr, chromosome; ROH, runs of homozygosity; Min, minimum; and miRNA, microRNA. Regions are ordered from top to bottom by increasing worldwide mean ROH frequency. Genes in bold and underlined are associated with autosomal-dominant and autosomal-recessive diseases, respectively, in the OMIM database.

^aComplement factor D deficiency (MIM 1343560).

^bGuanidinoacetate methyltransferase deficiency (MIM 612736).

^cHypogonadotropic hypogonadism (MIM 146110) and central precocious puberty (MIM 176400).

^dMitochondrial complex I deficiency (MIM 252010).

^ePeutz-Jeghers syndrome (MIM 175200).

^fSpinocerebellar ataxia (MIM 605361).

^gRetinitis pigmentosa (MIM 600138).