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Table 2 Summary of genetic variants associated with DLB. Single nucleotide polymorphisms (SNP), allele or haplotype are listed. For SNPs rs numbers are provided and amino acid variant stated for exonic mutations

From: Dementia with Lewy bodies: an update and outlook

Gene SNP/allele or Haplotype Gene product References
APOE rs429358 (C130R) / E4 (allele) Apolipoprotein 4 [97,98,99, 105]
SNCA rs7681440 (intronic)
rs356182 (intronic)
rs104893875 (E46K)
rs104893877 (A53T)
Duplication
α-synuclein [77, 78, 82, 98, 99]
GBA Multiple mutations β-glucocerebrosidase [99, 107]
SCARB2 rs6812193 (intronic) Lysosomal integral membrane protein-2 [98]
MAPT H1G (haplotype)
H2 (haplotype)
rs143624519 (A152T)
R221Qa
Microtubule-associated protein tau [206,207,208]
LRRK2 rs34637584 (G2019S) Leucine-rich Kinase-2 [209]
SNCB rs104893937 (P123H)
rs104893936 (V70M)
β-Synuclein [91, 92]
PSEN1 rs63749824 (A79V) Presenilin 1 [207]
PSEN2 rs140501902 (R71W)
rs63750048 (A85V)
V191Ea
rs63750110 (D439A)
Presenilin 2 [97, 207, 210]
GRN rs63750441 (C105R)
Multiple variants
Granulin [207, 211]
PARK2 rs148990138 (P37L)
A46Sa
rs191486604(G430D)
rs34424986 (R275W)
Parkin [97, 207]
PINK1 P138La
rs139226733 (M318L)
S499Ca
PTEN-induced kinase 1 [207]
APP rs63750264 (V717I)
Duplication
Amyloid precursor protein [89, 212]
GABRB3 rs1426210 (intronic) Gamma-aminobutyric acid receptor subunit beta-3 [99]
BCL7C/STX1B rs897984 (intronic) B-cell CLL/lymphoma 7 protein family member C / Syntaxin 1B [99]
TREM2 rs143332484 (R62H) Triggering receptor expressed on myeloid cells 2 [211]
CHMP2B rs63750818 (I29V) Charged multivesicular body protein 2B [97]
SQSTM1 rs200396166 (A33V)
P27La
Sequestosome [97]
EIF4G1 M1134Va Eukaryotic translation initiation factor 4 gamma 1 [97]
GIGYF2 S1029Ca
S66Ta
GRB10 interacting GYF protein 2 [97]
  1. a= no rs number assigned