PMID: 30382898

Multiple genotype-phenotype association study reveals intronic variant pair on SIDT2 associated with metabolic syndrome in a Korean population.

Human genomics
S Moon, Y Lee, S Won, J Lee
2018-11-01

48 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
11-117039325-T-A PAFAH1B2 c.*910T>A - 3-UTRSNV 6/6 -
11-117035319-A-G PAFAH1B2 c.411+711A>G - IntronicSNV - 5/5
2-27743154-A-G GCKR c.1572+1350A>G - IntronicSNV - 17/18
11-116755584-G-A SIK3 c.866-7826C>T - intron_variant - 6/23
11-122526601-C-T UBASH3B c.1-157C>T - 5-UTRSNV 1/14 -
15-58724524-A-G LIPC c.88+205A>G - IntronicSNV - 1/8
2-27741237-T-C GCKR c.1423-418T>C - IntronicSNV - 16/18
11-116748221-G-T SIK3 c.866-463C>A - intron_variant - 6/23
9-107657070-G-A ABCA1 c.67-5594C>T - IntronicSNV - 2/49
11-116784692-T-C SIK3 c.616+13243A>G - intron_variant - 4/23
12-111646853-C-G CUX2 c.64-5151C>G - IntronicSNV - 1/21
12-111610723-T-A CUX2 c.64-41281T>A - IntronicSNV - 1/21
12-111598202-C-T CUX2 c.64-53802C>T - IntronicSNV - 1/21
12-111754597-T-C CUX2 c.2003-3219T>C - IntronicSNV - 16/21
12-111779792-C-T CUX2 c.3594C>T p.Ile1198Ile Synonymous 21/22 -
15-58724383-A-G LIPC c.88+64A>G - IntronicSNV - 1/8
11-117075566-C-T TAGLN c.*491C>T - IntergenicSNV 5/5 -
8-19813702-G-A LPL c.1018+108G>A - IntronicSNV - 6/9
11-116756183-G-A SIK3 c.866-8425C>T - intron_variant - 6/23
11-122526601-C-G UBASH3B c.1-157C>G - 5-UTRSNV 1/14 -
12-111737115-T-C CUX2 c.753+722T>C - IntronicSNV - 9/21
12-111723739-G-A CUX2 c.302-5483G>A - IntronicSNV - 4/21
12-111786892-T-C CUX2 c.*763T>C - 3-UTRSNV 22/22 -
9-107653426-G-A ABCA1 c.67-1950C>T - IntronicSNV - 2/49
12-111614736-T-A CUX2 c.64-37268T>A - IntronicSNV - 1/21
12-111598202-C-G CUX2 c.64-53802C>G - IntronicSNV - 1/21
12-111614736-T-C CUX2 c.64-37268T>C - IntronicSNV - 1/21
8-19812812-C-T LPL c.776-540C>T - IntronicSNV - 5/9
11-116766899-T-C SIK3 c.865+70A>G - intron_variant - 6/23
8-19813702-G-T LPL c.1018+108G>T - IntronicSNV - 6/9
11-116654435-C-T ZPR1 c.892-100G>A - IntronicSNV - 9/13
11-122540528-G-T UBASH3B c.161+13610G>T - IntronicSNV - 1/13
2-27729480-G-A GCKR c.968+34G>A - IntronicSNV - 11/18
12-111639456-G-C CUX2 c.64-12548G>C - IntronicSNV - 1/21
12-111639456-G-T CUX2 c.64-12548G>T - IntronicSNV - 1/21
11-117039325-T-G PAFAH1B2 c.*910T>G - 3-UTRSNV 6/6 -
12-111634281-T-G CUX2 c.64-17723T>G - IntronicSNV - 1/21
12-111634281-T-A CUX2 c.64-17723T>A - IntronicSNV - 1/21
12-111679214-C-T CUX2 c.223-22351C>T - IntronicSNV - 3/21
12-111690579-T-C CUX2 c.223-10986T>C - IntronicSNV - 3/21
12-111646519-A-T CUX2 c.64-5485A>T - IntronicSNV - 1/21
11-122540281-G-A UBASH3B c.161+13363G>A - IntronicSNV - 1/13
12-111716376-C-T CUX2 c.302-12846C>T - IntronicSNV - 4/21
12-111716376-C-G CUX2 c.302-12846C>G - IntronicSNV - 4/21
11-117034729-T-C PAFAH1B2 c.411+121T>C - IntronicSNV - 5/5
11-116652423-G-A ZPR1 c.1179+451C>T - IntronicSNV - 12/13
11-116652423-G-T ZPR1 c.1179+451C>A - IntronicSNV - 12/13
11-116652423-G-C ZPR1 c.1179+451C>G - IntronicSNV - 12/13