Table 1 Haplotype-tagging SNPs in the... | American Society of Hematology

Table 1

Haplotype-tagging SNPs in the VWF gene

Region VWF gene	Position*	ht-SNP ID†	Variant‡	MAF
Intron 3	6227919	rs10849385	A>G	0.36
Intron 5	6215634	rs7306706	A>G	0.43
Intron 6	6195397	rs1610056	C>G	0.09
Intron 6	6194183	rs2238103	A>T	0.43
Intron 6	6186116	rs7135976	T>C	0.46
Exon 13	6172202	rs1800378	c1451G>A	0.38
Intron 13	6169323	rs7139057	T>G	0.17
Intron 17	6153659	rs216293	T>G	0.46
Exon 18	6153514	rs1063857	c2385T>C	0.35
Intron 18	6153264	rs11064008	C>G	0.12
Intron 18	6149799	rs216340	G>A	0.19
Intron 19	6144138	rs12810426	G>A	0.14
Intron 21	6139261	rs216318	C>A	0.10
Intron 27	6128984	rs216312	C>T	0.48
Exon 28	6128443	rs216311	c4141G>A	0.38
Intron 28	6126927	rs216309	T>C	0.48
Intron 34	6108513	rs216801	G>A	0.37
Intron 42	6088103	rs7298566	A>C	0.13
Intron 42	6085513	rs216855	G>A	0.21
Intron 43	6081824	rs917857	G>A	0.44
Intron 45	6078125	rs4764478	T>A	0.25
Intron 47	6074016	rs11063961	A>G	0.22
Intron 47	6073520	rs12369177	G>T	0.33
Intron 50	6060960	rs2270151	G>A	0.17
3′FR	6050320	rs2885517	C>T	0.38
3′FR	6049784	rs12580835	T>C	0.45
3′FR	6049568	rs12367467	C>G	0.12

Region VWF gene	Position*	ht-SNP ID†	Variant‡	MAF
Intron 3	6227919	rs10849385	A>G	0.36
Intron 5	6215634	rs7306706	A>G	0.43
Intron 6	6195397	rs1610056	C>G	0.09
Intron 6	6194183	rs2238103	A>T	0.43
Intron 6	6186116	rs7135976	T>C	0.46
Exon 13	6172202	rs1800378	c1451G>A	0.38
Intron 13	6169323	rs7139057	T>G	0.17
Intron 17	6153659	rs216293	T>G	0.46
Exon 18	6153514	rs1063857	c2385T>C	0.35
Intron 18	6153264	rs11064008	C>G	0.12
Intron 18	6149799	rs216340	G>A	0.19
Intron 19	6144138	rs12810426	G>A	0.14
Intron 21	6139261	rs216318	C>A	0.10
Intron 27	6128984	rs216312	C>T	0.48
Exon 28	6128443	rs216311	c4141G>A	0.38
Intron 28	6126927	rs216309	T>C	0.48
Intron 34	6108513	rs216801	G>A	0.37
Intron 42	6088103	rs7298566	A>C	0.13
Intron 42	6085513	rs216855	G>A	0.21
Intron 43	6081824	rs917857	G>A	0.44
Intron 45	6078125	rs4764478	T>A	0.25
Intron 47	6074016	rs11063961	A>G	0.22
Intron 47	6073520	rs12369177	G>T	0.33
Intron 50	6060960	rs2270151	G>A	0.17
3′FR	6050320	rs2885517	C>T	0.38
3′FR	6049784	rs12580835	T>C	0.45
3′FR	6049568	rs12367467	C>G	0.12

MAF indicates minor allele frequency (participants with European ancestry); and 3′FR, 3′ flanking region.

Nucleotide position chromosome 12.

Haplotype tagging SNP ID according to National Center for Biotechnology Information dbSNP.

Nucleotide variant. For the SNPs located in exons, the cDNA reference sequence has been provided.