Source: CLINVAR

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: rs1114167445
rs1114167445
SPTBN4
0.851 0.160 19 40504064 stop gained C/T snv 8.0E-06
CUI: C0234146
Disease: Absent reflex
Absent reflex 		0.700 1.000 1 2017 2017
dbSNP: rs1561498701
rs1561498701
SMN1 ; SMN2
1.000 0.080 5 70925150 frameshift variant -/GGATTCCG delins
CUI: C0234146
Disease: Absent reflex
Absent reflex 		0.700 1.000 1 2013 2013
dbSNP: rs796051877
rs796051877
GAA
0.807 0.320 17 80110055 splice region variant G/A snv 4.0E-06
CUI: C0234146
Disease: Absent reflex
Absent reflex 		0.700 1.000 1 2015 2015
dbSNP: rs1160978570
rs1160978570
IGHMBP2
0.925 0.120 11 68933482 splice donor variant G/C;T snv 4.1E-06
CUI: C0234146
Disease: Absent reflex
Absent reflex 		0.700 0
dbSNP: rs1276519904
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0234146
Disease: Absent reflex
Absent reflex 		0.700 0
dbSNP: rs1554066397
rs1554066397
SMN1 ; SMN2
0.925 0.080 5 70925108 missense variant C/G;T snv
CUI: C0234146
Disease: Absent reflex
Absent reflex 		0.700 0
dbSNP: rs1555377415
rs1555377415
IRF2BPL ; LOC107984638
0.827 0.200 14 77027274 stop gained G/C snv
CUI: C0234146
Disease: Absent reflex
Absent reflex 		0.700 0
dbSNP: rs1555630216
rs1555630216
PIEZO2
0.790 0.160 18 10714931 splice acceptor variant C/T snv
CUI: C0234146
Disease: Absent reflex
Absent reflex 		0.700 0
dbSNP: rs1555648288
rs1555648288
PIEZO2
0.790 0.160 18 10795003 splice acceptor variant C/T snv
CUI: C0234146
Disease: Absent reflex
Absent reflex 		0.700 0
dbSNP: rs1556425596
rs1556425596
COL6A1
0.752 0.240 21 45989967 intron variant C/T snv
CUI: C0234146
Disease: Absent reflex
Absent reflex 		0.700 0
dbSNP: rs1569518070
rs1569518070
COL6A1
0.752 0.480 21 45989088 inframe deletion AAC/- del
CUI: C0234146
Disease: Absent reflex
Absent reflex 		0.700 0
dbSNP: rs267607261
rs267607261
MPV17
0.807 0.280 2 27312753 stop gained C/T snv 8.0E-06
CUI: C0234146
Disease: Absent reflex
Absent reflex 		0.700 0
dbSNP: rs368900406
rs368900406
MPV17
0.827 0.160 2 27312255 non coding transcript exon variant A/C snv 8.0E-06 2.1E-05
CUI: C0234146
Disease: Absent reflex
Absent reflex 		0.700 0
dbSNP: rs543860009
rs543860009
TTN ; TTN-AS1
0.742 0.320 2 178589003 stop gained G/A;T snv
CUI: C0234146
Disease: Absent reflex
Absent reflex 		0.700 0
dbSNP: rs878854378
rs878854378
TTN ; TTN-AS1
0.742 0.320 2 178533657 inframe deletion GTT/- delins
CUI: C0234146
Disease: Absent reflex
Absent reflex 		0.700 0
dbSNP: rs879253887
rs879253887
IGHMBP2
0.925 0.120 11 68934542 missense variant C/T snv 4.1E-06
CUI: C0234146
Disease: Absent reflex
Absent reflex 		0.700 0