TABLE 1.
Novel rare variants in the Indian population
| Gene | Chromosomal Position |
Variant Type |
Amino Acid Change |
CDNA Change |
REFSEQ ID | EXDN | Public Databases |
CADD Score |
IPDGC |
COURAGE-PD |
Rare Variants in Overall Cohorts (1202) |
||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| dbSNP | 1000 g | ExAC | GME | ExAC_ SAS |
1000 g_ SAS |
Cases (N = 6,801) |
Controls (N = 5,970) |
Cases (N = 1,490) |
Controls (N = 1,490) |
Cases (freq) |
Controls | ||||||||
| LRRK2 | chr12: 40646719 | MISSENSE | Ala397Thr | C.1189G > A | NM_198578.3 | 11 | 0 | 0 | 0 | 0 | 0 | 0 | 23.40 | 0 | 0 | 0 | 0 | 2 (0.001) | 0 |
| LRRK2 | chr12: 40651175 | MISSENSE | Gly472Arg | C.1414G > A | NM_198578.3 | 12 | 0 | 0 | 0 | 0 | 0 | 0 | 31.00 | 0 | 0 | 0 | 0 | 1 (0.0008) | 0 |
| LRRK2 | Chr12: 40657696 | MISSENSE | Leu550Trp | C.1649 T > G | NM_198578.3 | 14 | 0 | 0 | 0 | 0 | 0 | 0 | 27.50 | 0 | 0 | 0 | 0 | 3 (0.002) | 0 |
| LRRK2 | chr12: 40722165 | MISSENSE | Asp1887Gly | c.5660A > G | NM_198578.3 | 39 | 0 | 0 | 0 | 0 | 0 | 0 | 25.30 | 0 | 0 | 0 | 0 | 2 (0.001) | 0 |
Abbreviations: ExAC, Exome Aggregation Consortium; ExAC SAS, Exome Aggregation Consortium South Asian; 1000 g, 1000 genomes; 1000 g SAS, 1000 genomes South Asian; GME, Greater Middle East