Source: CURATED

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: rs1554967681
rs1554967681
SCYL1
0.925 0.040 11 65525631 stop gained C/T snv
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration 		0.700 1.000 1 2018 2018
dbSNP: rs1554967761
rs1554967761
SCYL1
1.000 0.040 11 65525924 stop gained G/T snv
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration 		0.700 1.000 1 2018 2018
dbSNP: rs1554969925
rs1554969925
SCYL1
0.925 0.040 11 65535999 missense variant A/G snv
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration 		0.700 1.000 1 2018 2018
dbSNP: rs1554970375
rs1554970375
SCYL1
0.925 0.040 11 65537051 stop gained C/T snv
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration 		0.700 1.000 1 2018 2018
dbSNP: rs1555582065
rs1555582065
UBTF ; LOC101926967
0.827 0.160 17 44212851 missense variant C/T snv
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration 		0.700 1.000 1 2018 2018
dbSNP: rs942522644
rs942522644
SCYL1
0.925 0.040 11 65525982 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration 		0.700 1.000 1 2018 2018
dbSNP: rs1057518915
rs1057518915
PANK2
20 3908191 missense variant G/A snv
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration 		0.700 0
dbSNP: rs1424291552
rs1424291552
C19orf12
1.000 19 29708423 missense variant C/G;T snv 4.0E-06
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration 		0.700 0
dbSNP: rs1553878395
rs1553878395
SEPSECS
0.925 0.080 4 25127263 splice acceptor variant AAAGATATGGGATTGTGAGGTGTATGCAACAGTCTTTCATTGTAGGCTTCTGACAACTTCTTTATTTGGTTGGACAAATATGAAAACATTTCCT/- delins
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration 		0.700 0
dbSNP: rs1565825132
rs1565825132
TBK1
1.000 0.160 12 64498008 stop gained G/T snv
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration 		0.700 0
dbSNP: rs200133991
rs200133991
C19orf12
0.925 0.080 19 29708290 missense variant C/T snv 1.2E-05 2.1E-05
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration 		0.700 0
dbSNP: rs372949028
rs372949028
TANGO2
0.827 0.240 22 20061684 splice donor variant G/A;C snv 7.1E-05 5.6E-05
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration 		0.700 0
dbSNP: rs397514513
rs397514513
CYP2U1 ; LOC107986298
0.882 0.080 4 107945426 missense variant A/T snv
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration 		0.700 0
dbSNP: rs730882241
rs730882241
ARV1
1.000 1 230995876 missense variant G/A snv 1.2E-05 2.1E-05
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration 		0.700 0
dbSNP: rs753376100
rs753376100
PANK2
20 3910664 missense variant C/T snv 1.6E-05
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration 		0.700 0
dbSNP: rs769235753
rs769235753
SLC17A5
0.925 0.120 6 73644582 missense variant C/T snv 1.2E-05 2.1E-05
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration 		0.700 0
dbSNP: rs796053356
rs796053356
STXBP1
0.882 0.160 9 127663344 missense variant G/A snv
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration 		0.700 0