Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1135401773
rs1135401773
1.000 0.200 X 43731325 missense variant G/A snv
CUI: C0796275
Disease: Brunner Syndrome
Brunner Syndrome
0.700 0
dbSNP: rs1135401773
rs1135401773
1.000 0.200 X 43731325 missense variant G/A snv
CUI: C1843367
Disease: Poor school performance
Poor school performance
0.700 0
dbSNP: rs1346551029
rs1346551029
1.000 X 43655101 5 prime UTR variant AGTACCCGCACCAGTACCGGCACCGGCACCAGTACCCGCACCAGTACCGGCACCGGCACC/-;AGTACCCGCACCAGTACCGGCACCGGCACC;AGTACCCGCACCAGTACCGGCACCGGCACCAGTACCCGCACCAGTACCGGCACCGGCACCAGTACCCGCACCAGTACCGGCACCGGCACC;AGTACCCGCACCAGTACCGGCACCGGCACCAGTACCCGCACCAGTACCGGCACCGGCACCAGTACCCGCACCAGTACCGGCACCGGCACCAGTACCCGCACCAGTACCGGCACCGGCACC delins 1.3E-02
ANTISOCIAL BEHAVIOR, SUSCEPTIBILITY TO
0.700 0
dbSNP: rs1346551029
rs1346551029
1.000 X 43655101 5 prime UTR variant AGTACCCGCACCAGTACCGGCACCGGCACCAGTACCCGCACCAGTACCGGCACCGGCACC/-;AGTACCCGCACCAGTACCGGCACCGGCACC;AGTACCCGCACCAGTACCGGCACCGGCACCAGTACCCGCACCAGTACCGGCACCGGCACCAGTACCCGCACCAGTACCGGCACCGGCACC;AGTACCCGCACCAGTACCGGCACCGGCACCAGTACCCGCACCAGTACCGGCACCGGCACCAGTACCCGCACCAGTACCGGCACCGGCACCAGTACCCGCACCAGTACCGGCACCGGCACC delins 1.3E-02
CUI: C1839707
Disease: AUTISM, SEVERE
AUTISM, SEVERE
0.700 0
dbSNP: rs587777457
rs587777457
0.925 0.200 X 43731695 missense variant G/T snv
CUI: C0796275
Disease: Brunner Syndrome
Brunner Syndrome
0.700 0
dbSNP: rs72554632
rs72554632
1.000 0.200 X 43731784 stop gained C/T snv
CUI: C0796275
Disease: Brunner Syndrome
Brunner Syndrome
0.700 0
dbSNP: rs796065311
rs796065311
1.000 0.200 X 43731344 frameshift variant -/T ins
CUI: C0796275
Disease: Brunner Syndrome
Brunner Syndrome
0.700 0
dbSNP: rs796065312
rs796065312
1.000 0.200 X 43683572 missense variant C/T snv
CUI: C0796275
Disease: Brunner Syndrome
Brunner Syndrome
0.700 0