Gene: SPATA7 ×
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: rs371609982
rs371609982
SPATA7
1 1.000 0.040 14 88385837 missense variant G/A;C;T snv 1.3E-05 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: rs768028061
rs768028061
SPATA7
1 1.000 0.040 14 88437597 missense variant G/A;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs786204787
rs786204787
SPATA7
1 1.000 0.040 14 88391457 splice donor variant T/C snv 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