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: rs1557055405
rs1557055405
ABCD1
0.807 0.400 X 153743532 missense variant T/A snv
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		0.700 1.000 1 1998 1998
dbSNP: rs752298579
rs752298579
TANGO2
0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		0.700 1.000 1 2016 2016
dbSNP: rs1057524820
rs1057524820
SCN8A
0.776 0.280 12 51765746 missense variant G/A;T snv
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		0.700 0
dbSNP: rs121918550
rs121918550
AAAS
1.000 0.080 12 53309624 missense variant A/G snv 1.2E-04 4.9E-05
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		0.700 0
dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		0.700 0
dbSNP: rs1555727493
rs1555727493
KMT2B
0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		0.700 0
dbSNP: rs1555954284
rs1555954284
DDX3X
0.752 0.360 X 41346607 missense variant C/T snv
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		0.700 0
dbSNP: rs1564045331
rs1564045331
XPA
0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		0.700 0
dbSNP: rs370717845
rs370717845
HGSNAT
0.763 0.320 8 43161462 missense variant G/A snv
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		0.700 0
dbSNP: rs778543124
rs778543124
XPA
0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		0.700 0
dbSNP: rs869312880
rs869312880
REEP1
0.882 0.120 2 86232624 splice donor variant C/T snv
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		0.700 0