Source: CURATED ×
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: rs1057518806
rs1057518806
HMBS
4 1.000 0.040 11 119093155 frameshift variant G/- del 0.700 0
dbSNP: rs1057518886
rs1057518886
HMBS
5 11 119090043 frameshift variant C/- delins 0.700 0
dbSNP: rs1163944538
rs1163944538
TMEM94
73 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
dbSNP: rs1352010373
rs1352010373
TMEM94
73 0.641 0.560 17 75489265 splice acceptor variant G/C snv 0.700 0
dbSNP: rs148636776
rs148636776
ATXN2 ; SH2B3
18 0.790 0.280 12 111447491 missense variant G/A snv 1.5E-04 2.4E-04 0.700 0
dbSNP: rs1553655558
rs1553655558
TRIP12
43 0.752 0.360 2 229830831 frameshift variant A/- delins 0.700 0
dbSNP: rs1554995260
rs1554995260
SERPING1
3 1.000 0.120 11 57602098 frameshift variant -/T delins 0.700 0
dbSNP: rs1555206402
rs1555206402
HMBS
26 0.790 0.320 11 119093274 stop lost GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- delins 0.700 0
dbSNP: rs1555738475
rs1555738475
STK11
12 0.776 0.400 19 1220707 frameshift variant G/- delins 0.700 0
dbSNP: rs28934907
rs28934907
MECP2
29 0.732 0.320 X 154032268 missense variant G/A;C snv 0.700 0
dbSNP: rs606231435
rs606231435
ATP1A3
17 0.827 0.240 19 41970539 missense variant C/T snv 0.700 0