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: rs140287375
rs140287375
SPATA7
1 1.000 0.080 14 88416725 stop gained C/G;T snv 2.0E-05; 7.2E-05 0.700 0
dbSNP: rs374268850
rs374268850
SPATA7
1 1.000 0.080 14 88437553 stop gained C/T snv 0.700 0
dbSNP: rs386834241
rs386834241
SPATA7
2 0.925 0.080 14 88429394 frameshift variant -/A delins 0.700 0
dbSNP: rs386834243
rs386834243
SPATA7
2 0.925 0.080 14 88438016 frameshift variant A/- delins 0.700 0
dbSNP: rs75895925
rs75895925
SPATA7
2 0.925 0.080 14 88437565 stop gained C/T snv 4.8E-05 7.0E-06 0.700 0
dbSNP: rs80044281
rs80044281
SPATA7
2 0.925 0.080 14 88416794 stop gained C/A;T snv 4.0E-06; 3.2E-05 0.700 0