PMID: 31902109

Progressive effects of single-nucleotide polymorphisms on 16 phenotypic traits based on longitudinal data.

Genes & genomics
D Li, H Kang, S Lee, S Won
2020-01-04

23 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
19-11227602-C-T LDLR c.1773C>T p.Asn591Asn Synonymous 12/18 -
5-74909446-C-G ANKDD1B c.193+1794C>G - IntronicSNV - 1/13
2-27844601-T-A ZNF512 c.*273T>A - 3-UTRSNV 14/14 -
2-27808154-T-C ZNF512 c.89+1571T>C - IntronicSNV - 2/13
11-116908283-A-G SIK3 c.273+60576T>C - intron_variant - 1/23
11-116652423-G-C ZPR1 c.1179+451C>G - IntronicSNV - 12/13
2-27743154-A-G GCKR c.1572+1350A>G - IntronicSNV - 17/18
11-116652423-G-A ZPR1 c.1179+451C>T - IntronicSNV - 12/13
11-116652423-G-T ZPR1 c.1179+451C>A - IntronicSNV - 12/13
2-27844601-T-G ZNF512 c.*273T>G - 3-UTRSNV 14/14 -
5-74909446-C-T ANKDD1B c.193+1794C>T - IntronicSNV - 1/13
3-11075461-G-A SLC6A1 c.1527+36G>A - IntronicSNV - 14/15
2-27741237-T-C GCKR c.1423-418T>C - IntronicSNV - 16/18
5-74648603-A-T HMGCR c.1368+1176A>T - IntronicSNV - 11/19
2-46346716-T-C PRKCE c.1593-25516T>C - IntronicSNV - 11/14
22-37467354-G-C TMPRSS6 c.1583-282C>G - IntronicSNV - 13/17
5-74919409-G-A ANKDD1B c.397-2063G>A - IntronicSNV - 3/13
3-11075461-G-C SLC6A1 c.1527+36G>C - IntronicSNV - 14/15
6-20661250-G-C CDKAL1 c.371+11642G>C - IntronicSNV - 5/15
6-20661250-G-T CDKAL1 c.371+11642G>T - IntronicSNV - 5/15
11-116908283-A-T SIK3 c.273+60576T>A - intron_variant - 1/23
5-74786083-G-A COL4A3BP c.231+15724C>T - IntronicSNV - 2/17
6-20661250-G-A CDKAL1 c.371+11642G>A - IntronicSNV - 5/15