An Axin2 mutation and perinatal risk factors contribute to sagittal craniosynostosis: evidence from a Chinese female monochorionic diamniotic twin family

Table 1 Allele frequency of Axin2 (c.1181G > A: p.R394H, rs200899695) in human populations (dbGaP, Release Version: 20,200,227,123,210)

Study	Population	Sample size	Ref Allele	Alt Allele	BioProject ID	BioSample ID
gnomAD—Exomes	Global	250,890	G = 0.999151	A = 0.000849	PRJNA398795	SAMN07488253
gnomAD—Exomes	European	134,850	G = 0.999993	A = 0.000007		SAMN10181265
gnomAD—Exomes	Asian	49,008	G = 1.00000	A = 0.00000
gnomAD—Exomes	American	34,584	G = 0.99396	A = 0.00604		SAMN07488255
gnomAD—Exomes	African	16,244	G = 1.00000	A = 0.00000		SAMN07488254
gnomAD—Exomes	Ashkenazi Jewish	10,072	G = 1.00000	A = 0.00000		SAMN07488252
gnomAD—Exomes	Other	6132	G = 0.9995	A = 0.0005		SAMN07488248
ExAC	Global	120,894	G = 0.999363	A = 0.000637	PRJEB8661	SAMN07490465
ExAC	Europe	72,950	G = 0.99999	A = 0.00001
ExAC	Asian	25,152	G = 1.00000	A = 0.00000
ExAC	American	11,542	G = 0.99342	A = 0.00658
ExAC	African	10,358	G = 1.00000	A = 0.00000
ExAC	Other	892	G = 1.000	A = 0.000		SAMN07486028
ALFA	Total	62,874	G = 0.99992	A = 0.00008	PRJNA507278	SAMN10492705
ALFA	European	59,864	G = 0.99995	A = 0.00005		SAMN10492695
ALFA	Other	2654	G = 0.9992	A = 0.0008		SAMN11605645
ALFA	African	242	G = 1.000	A = 0.000		SAMN10492703
ALFA	Asian	78	G = 1.00	A = 0.00		SAMN10492704
ALFA	Latin American 2	22	G = 1.00	A = 0.00		SAMN10492700
ALFA	South Asian	8	G = 1.0	A = 0.0		SAMN10492702
ALFA	Latin American 1	6	G = 1.0	A = 0.0		SAMN10492699

ISSN: 1601-5223