Gene: SMDT1 ×
Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1023075742
rs1023075742
NDUFA6 ; SMDT1 ; NDUFA6-DT
2 1.000 22 42090742 start lost C/T snv 4.0E-06 2.1E-05 0.700 0
dbSNP: rs1569463838
rs1569463838
NDUFA6 ; SMDT1
2 1.000 22 42086238 frameshift variant CT/- delins 0.700 0
dbSNP: rs750830935
rs750830935
NDUFA6 ; SMDT1
2 1.000 22 42087124 missense variant C/G;T snv 1.1E-04 1.4E-05 0.700 0
dbSNP: rs758833609
rs758833609
NDUFA6 ; SMDT1
2 1.000 22 42086305 stop gained C/A;T snv 8.0E-06; 4.4E-05 0.700 0
dbSNP: rs763006208
rs763006208
NDUFA6 ; SMDT1
2 1.000 22 42086261 frameshift variant A/- delins 1.1E-04 0.700 0
dbSNP: rs781099275
rs781099275
NDUFA6 ; SMDT1
2 1.000 22 42086215 frameshift variant G/- delins 4.0E-06 0.700 0