DisGeNET - a database of gene-disease associations

List of shared variants

Body Height, C0005890

Disease: Corpuscular Hemoglobin Concentration Mean

Source: ALL

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs671	ALDH2	0.529	0.840	12	111803962	missense variant	G/A	snv	1.9E-02	5.8E-03	116
rs3184504	SH2B3 ; ATXN2	0.572	0.600	12	111446804	missense variant	T/A;C;G	snv	0.67		92
rs10189857	BCL11A	1.000	0.080	2	60486100	intron variant	A/G	snv		0.42	6
rs806794	H2AC7 ; H3C4 ; H2BC7			6	26200449	3 prime UTR variant	A/G	snv		0.36	6
rs10946808	H2AC9P	1.000	0.040	6	26233159	non coding transcript exon variant	A/G	snv		0.26	5
rs1865760	SLC17A2	0.925	0.120	6	25916751	synonymous variant	C/T	snv	0.42	0.34	5
rs1991431	ZBTB38			3	141414608	intron variant	G/A	snv		0.50	4
rs732716	SH3GL1			19	4366222	intron variant	A/G	snv		0.23	3
rs201794926	PPP1R16A			8	144485527	intron variant	A/-;AA;AAA;AAAA	delins			2
rs766406				6	26319360	downstream gene variant	G/T	snv		0.74	2