Skip to main content
. 2025 May 28;19:62. doi: 10.1186/s40246-025-00765-2

Table 1.

Genetic variants in the CYP2C19 and CYP2D6 genes identified in the Estonian Biobank. Positions are according to GRCh37

rs-number Position Ref. Alt. MAF % (EstBB) Amino acid exchange
CYP2C19
 rs1466428833 Chr10:96,535,156 T G 0.02 F114C
 rs1361528097 Chr10:96,540,264 T G 0.02 C164G
 rs140278421 Chr10:96,540,331 G A 0.04 R186H
 rs148247410 Chr10:96,541,688 C G 0.02 H251Q
 rs1431015009 Chr10:96,580,257 A T 0.02 K275M
 rs1393133490 Chr10:96,580,323 C T 0.02 A297V
 Not available Chr10:96,602,648 T C 0.02 M339T
CYP2D6
 rs1230912765 Chr22:42,525,143 G A 0.02 R133C
 rs1058171 Chr22:42,523,928 C T 0.02 D301N
 Not available Chr22:42,523,916 C T 0.02 A305T
 Not available Chr22:42,523,889 G T 0.02 L314M
 rs28371733 Chr22:42,522,916 CG C 0.02 E418NfsTer11
 rs757396767 Chr22:42,522,982 TGA T 0.10 L395HfsTer11
 rs730882170 Chr22:42,523,847

GCACATCCGG

ATGTAGGATC

G 0.02 M321IfsTer12
 rs750439337 Chr22:42,524,820 T TC 0.92 E211GfsTer43