Cross-comparison of the genome sequences from human, chimpanzee, Neanderthal and a Denisovan hominin identifies novel potentially compensated mutations

Table 5 PCMs (disease-causing and disease-related) with significantly different genotype frequencies in different HapMap populations

					Asian		European		African		Pair-wise F_ST (pvalue)
Gene	rs	HGMD Acc	WT	PCM	f_WT	n	f_WT	n	f_WT	n	Asian-African	European-African	Asian-European
SLC24A5	rs1426654	CM054862	A	G	0.01	178	1.00	116	0.03	120	-0.001 (0.8490)	0.974 (0.0054)	0.987 (0.0010)
TP53BP1*	rs2602141	CM067476	T	G	0.52	176	0.69	120	0.00	120	0.470 (0.2830)	0.689 (0.0489)	0.054 (0.5701)
CAPN3*	rs1801449	CM099258	G	A	0.91	178	0.94	120	0.23	120	0.653 (0.2234)	0.143 (0.3877)	0.680 (0.0026)
TP53BP1*	rs560191	CM067475	G	C	0.52	178	0.69	120	0.00	120	0.475 (0.2981)	0.689 (0.0489)	0.051 (0.5536)
ADH1B	rs1229984	CM890003	T	C	0.75	178	0.00	120	0.00	118	0.715 (0.1576)	NA (NA)	0.717 (0.0197)
ENPP1*	rs1044498	CM993455	A	C	0.94	180	0.87	118	0.00	120	0.927 (0.0314)	0.873 (0.0110)	0.020 (0.6004)

*Previously reported by Zhang et al.[10]
rs: reference number, dbSNP, WT: wild type, f_WT: frequency of the wild-type allele, NA: Not applicable.

ISSN: 1479-7364