Gene | MAP7D2 | SLC1A7 | TRAF3IP3 | PTPRB | PIK3R3 | DISC1 |
---|---|---|---|---|---|---|
Information | ||||||
Position | X:20,074,820 | 1:53,556,483 | 1:209,933,593 | 12:70,956,666 | 1:46,546,408 | 1:231,906,773 |
exon | 4 | 8 | 3 | 14 | 2 | 6 |
SNP ID | rs750367268 | – | rs555004337 | rs186466118 | rs115181807 | rs56229136 |
Ref allele | G | G | A | T | G | G |
Alt allele | A | A | T | C | A | C |
Function | missense | missense | missense | missense | missense | missense |
PolyPhen-2 score | 0.139(benign) | – | 0.729(possibly damaging) | 0.521(possibly damaging) | 1(probably damaging) | 0.059(benign) |
Freq_Alt (1000) | – | 0.000199 | 0.001797 | 0.004193 | – | 0.000599 |
Kaviar_ 20,150,923 | 0.0000194 | 0.0000388 | 0.0006015 | 0.0015006 | – | 0.0003428 |
ESP6500 | – | – | – | – | – | 0.000077 |
gnomAD | 0.000011 | 0.000028 | 0.0006 | 0.0019 | 0.000022 | 0.0004 |
CMDB | – | – | – | 0.0038 | 0.0051 | – |
Genotype | ||||||
Case 1 | G/A | G/A | A/T | T/C | G/A | G/C |
Case 2 | G/A | G/A | A/T | T/C | G/A | G/C |
Case 3 | G/A | G/A | A/T | T/C | G/A | G/C |
Case 4 | G/A | G/A | A/T | T/C | G/A | G/C |
Case 5 | A/A | G/A | A/T | T/C | G/A | G/C |
Con 1 | G/G | G/G | A/A | T/T | G/G | G/G |
Con 2 | G/G | G/G | A/A | T/T | G/G | G/G |