Source: CLINVAR ×
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: rs587779766
rs587779766
AHDC1
7 0.851 0.200 1 27549742 frameshift variant CA/- delins 0.700 1.000 1 2014 2014
dbSNP: rs587779767
rs587779767
AHDC1
7 0.851 0.200 1 27549218 frameshift variant G/- delins 0.700 1.000 1 2014 2014
dbSNP: rs587779768
rs587779768
AHDC1
7 0.851 0.200 1 27549569 frameshift variant G/- delins 0.700 1.000 1 2014 2014
dbSNP: rs1057523354
rs1057523354
COL4A1
13 0.763 0.480 13 110179387 missense variant C/A snv 0.700 0
dbSNP: rs1553354952
rs1553354952
WDR26
4 0.882 0.200 1 224404492 missense variant C/T snv 0.700 0
dbSNP: rs1553354956
rs1553354956
WDR26
4 0.882 0.200 1 224404504 missense variant A/C snv 0.700 0
dbSNP: rs1555269488
rs1555269488
GNPTAB
4 0.882 0.200 12 101764241 frameshift variant -/A delins 0.700 0
dbSNP: rs1555462347
rs1555462347
USP7
34 0.716 0.520 16 8901028 frameshift variant CT/- delins 0.700 0
dbSNP: rs368869806
rs368869806
PTCH1
97 0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs397507562
rs397507562
GNPTAB
6 0.851 0.240 12 101757311 splice acceptor variant C/G;T snv 0.700 0
dbSNP: rs781939614
rs781939614
PEX11B
11 0.851 0.240 1 145916914 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs781984979
rs781984979
PEX11B
11 0.851 0.240 1 145912346 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs886043994
rs886043994
ASXL1
21 0.776 0.400 20 32433355 frameshift variant GT/- delins 0.700 0