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: rs104894620
rs104894620
PMP22
2 0.925 0.080 17 15239584 start lost A/G;T snv 0.700 0
dbSNP: rs104894621
rs104894621
PMP22
6 0.790 0.080 17 15239575 missense variant G/A snv 0.700 0
dbSNP: rs104894622
rs104894622
PMP22
3 0.882 0.080 17 15260692 missense variant G/T snv 0.700 0
dbSNP: rs121913585
rs121913585
MPZ
4 0.851 0.080 1 161307304 missense variant G/A;C snv 0.700 0
dbSNP: rs121913586
rs121913586
MPZ
9 0.752 0.200 1 161306414 missense variant C/G;T snv 0.700 0
dbSNP: rs786205087
rs786205087
PMP22
1 1.000 17 15239551 frameshift variant GA/- delins 0.700 0