SZGene

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Polymorphism Details

Study:

Huffaker, 2009

Gene:

KCNH2 (ERG1; HERG; HERG1; Kv11.1; LQT2; SQT1)

View on MSGene

Protein:

potassium voltage-gated channel, subfamily H (eag-related), member 2 (ether-a-go-go-related potassium channel protein; potassium voltage-gated channel subfamily H member 2; voltage-gated potassium channel, subfamily H, member 2)

Chromosome:

7 (View: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 X Y MT)

Status:

Updated 20 July 2010

Total number of polymorphisms investigated by this study: 36

Case-Control Studies (by ethnic group)
					Genotypes*
Polymorphism ID# (Link to NCBI)	Population		A-Allele	G-Allele	A/A (frequency)	A/G (frequency)	G/G (frequency)
Caucasian
rs11763131	Germany	SZ CTR	0.29 0.27	0.71 0.73	76 (0.084) 96 (0.073)	373 (0.412) 522 (0.395)	456 (0.504) 705 (0.533)
rs11763131	Armenia	SZ CTR	- -	- -	0 (-) 0 (-)	0 (-) 0 (-)	0 (-) 0 (-)
rs11763131	Italy	SZ CTR	- -	- -	0 (-) 0 (-)	0 (-) 0 (-)	0 (-) 0 (-)

*Genotypes have been calculated from allele frequencies assuming Hardy-Weinberg equilibrium.

Case-Control Studies (by ethnic group)
					Genotypes
Polymorphism ID# (Link to NCBI)	Population		C-Allele	A-Allele	C/C (frequency)	C/A (frequency)	A/A (frequency)
Caucasian
rs3807374	Italy	SZ CTR	- -	- -	0 (-) 0 (-)	0 (-) 0 (-)	0 (-) 0 (-)
rs3807374	Armenia	SZ CTR	- -	- -	0 (-) 0 (-)	0 (-) 0 (-)	0 (-) 0 (-)
rs3807374	Germany	SZ CTR	0.30 0.27	0.70 0.73	81 (0.090) 96 (0.073)	380 (0.420) 522 (0.395)	444 (0.491) 705 (0.533)

(-) : Either no data provided, or data otherwise not eligible for inclusion (see methods for details).
*Genotypes have been calculated from allele frequencies assuming Hardy-Weinberg equilibrium.

Case-Control Studies (by ethnic group)
					Genotypes*
Polymorphism ID# (Link to NCBI)	Population		T-Allele	C-Allele	T/T (frequency)	T/C (frequency)	C/C (frequency)
Caucasian
rs3807373	Germany	SZ CTR	0.29 0.27	0.71 0.73	76 (0.084) 96 (0.073)	373 (0.412) 522 (0.395)	456 (0.504) 705 (0.533)
rs3807373	Armenia	SZ CTR	- -	- -	0 (-) 0 (-)	0 (-) 0 (-)	0 (-) 0 (-)
rs3807373	Italy	SZ CTR	- -	- -	0 (-) 0 (-)	0 (-) 0 (-)	0 (-) 0 (-)

*Genotypes have been calculated from allele frequencies assuming Hardy-Weinberg equilibrium.

Case-Control Studies (by ethnic group)
					Genotypes
Polymorphism ID# (Link to NCBI)	Population		T-Allele	C-Allele	T/T (frequency)	T/C (frequency)	C/C (frequency)
Caucasian
rs3807372	Italy	SZ CTR	- -	- -	0 (-) 0 (-)	0 (-) 0 (-)	0 (-) 0 (-)
rs3807372	Armenia	SZ CTR	- -	- -	0 (-) 0 (-)	0 (-) 0 (-)	0 (-) 0 (-)
rs3807372	Germany	SZ CTR	0.15 0.14	0.85 0.86	20 (0.022) 26 (0.020)	231 (0.255) 319 (0.241)	654 (0.723) 978 (0.739)

(-) : Either no data provided, or data otherwise not eligible for inclusion (see methods for details).
*Genotypes have been calculated from allele frequencies assuming Hardy-Weinberg equilibrium.

Case-Control Studies (by ethnic group)
					Genotypes*
Polymorphism ID# (Link to NCBI)	Population		T-Allele	G-Allele	T/T (frequency)	T/G (frequency)	G/G (frequency)
Caucasian
rs3800779	Germany	SZ CTR	0.34 0.31	0.66 0.69	105 (0.116) 127 (0.096)	406 (0.449) 566 (0.428)	394 (0.435) 630 (0.476)
rs3800779	Armenia	SZ CTR	- -	- -	0 (-) 0 (-)	0 (-) 0 (-)	0 (-) 0 (-)
rs3800779	Italy	SZ CTR	- -	- -	0 (-) 0 (-)	0 (-) 0 (-)	0 (-) 0 (-)

*Genotypes have been calculated from allele frequencies assuming Hardy-Weinberg equilibrium.

Case-Control Studies (by ethnic group)
					Genotypes
Polymorphism ID# (Link to NCBI)	Population		G-Allele	A-Allele	G/G (frequency)	G/A (frequency)	A/A (frequency)
Caucasian
rs748693	Italy	SZ CTR	- -	- -	0 (-) 0 (-)	0 (-) 0 (-)	0 (-) 0 (-)
rs748693	Armenia	SZ CTR	- -	- -	0 (-) 0 (-)	0 (-) 0 (-)	0 (-) 0 (-)
rs748693	Germany	SZ CTR	0.35 0.33	0.65 0.67	111 (0.123) 144 (0.109)	412 (0.455) 585 (0.442)	382 (0.422) 594 (0.449)

(-) : Either no data provided, or data otherwise not eligible for inclusion (see methods for details).
*Genotypes have been calculated from allele frequencies assuming Hardy-Weinberg equilibrium.

Case-Control Studies (by ethnic group)
					Genotypes*
Polymorphism ID# (Link to NCBI)	Population		A-Allele	G-Allele	A/A (frequency)	A/G (frequency)	G/G (frequency)
Caucasian
rs1036145	Germany	SZ CTR	0.34 0.32	0.66 0.68	105 (0.116) 135 (0.102)	406 (0.449) 576 (0.435)	394 (0.435) 612 (0.463)
rs1036145	Armenia	SZ CTR	- -	- -	0 (-) 0 (-)	0 (-) 0 (-)	0 (-) 0 (-)
rs1036145	Italy	SZ CTR	- -	- -	0 (-) 0 (-)	0 (-) 0 (-)	0 (-) 0 (-)

*Genotypes have been calculated from allele frequencies assuming Hardy-Weinberg equilibrium.

Family-Based Studies (by ethnic group)
					Genotypes
Polymorphism ID# (Link to NCBI)	Population		A-Allele	G-Allele	A/A (frequency)	A/G (frequency)	G/G (frequency)
Caucasian
rs11763131	USA (NIMHGI)	SZ CTR	- -	- -	0 (-) 0 (-)	0 (-) 0 (-)	0 (-) 0 (-)
rs11763131	USA (CBDB)	SZ CTR	- -	- -	0 (-) 0 (-)	0 (-) 0 (-)	0 (-) 0 (-)