From: Genetic analysis of Wnt/PCP genes in neural tube defects
Sample | Gene | Variant | Chr. | Positiona | Minor/major allele | Sex | Phenotypeb | SIFTc | PP2d | MAF in ExACe |
---|---|---|---|---|---|---|---|---|---|---|
NTD_27 | CELSR2 | p.Thr2026Met | 1 | 109,810,233 | T/C | M | SB | D | D | 0.000009415 |
 | DVL3 | p.Asp403Asn | 3 | 183,885,376 | A/G |  |  | D | P | NAf |
NTD_39 | CELSR2 | p.Arg2480Cys | 1 | 109,813,177 | T/C | M | SB | D | D | 0.00003766 |
 | FZD7 | p.Leu383Gln | 2 | 202,900,518 | A/T |  |  | D | D | NA |
NTD_122 | CELSR2 | p.Arg1990His | 1 | 109,808,784 | A/G | M | EC | D | P | 0.0001318 |
 | CELSR3 | p.Arg1194His | 3 | 48,696,487 | T/C |  |  | D | D | 0.00002825 |
NTD_15 | LRP6 | p.Arg386Cys | 12 | 12,334,194 | A/G | F | AE,SB | D | D | 0.000273 |
 | CELSR1 | p.Arg714His | 22 | 46,930,927 | T/C |  |  | D | D | NA |
NTD_56 | CELSR2 | p.Arg2626Cys | 1 | 109,814,294 | T/C | NA | SB | D | P | 0.0004425 |
 | FZD5 | p.Trp242Leu | 2 | 208,632,739 | A/C |  |  | D | D | NA |
NTD_19 | VANGL1 | p.Arg207His | 1 | 116,206,697 | A/G | F | SB | D | D | 0.00001883 |
 | CELSR1 | p.Thr1086Met | 22 | 46,929,811 | A/G |  |  | D | D | 0.0001318 |