Source: ALL
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: rs199476083
rs199476083
MUSK
1 1.000 9 110800746 missense variant G/A snv 2.3E-04 1.7E-04 0.800 1.000 5 2004 2014
dbSNP: rs387906803
rs387906803
MUSK ; LOC107987115
2 0.925 0.080 9 110767930 missense variant C/G snv 0.800 1.000 5 2004 2014
dbSNP: rs397515450
rs397515450
MUSK
1 1.000 9 110800558 missense variant C/T snv 0.800 1.000 5 2004 2014
dbSNP: rs766640370
rs766640370
MUSK
1 1.000 9 110787726 missense variant G/A snv 4.0E-06 0.800 1.000 5 2004 2014
dbSNP: rs775587809
rs775587809
MUSK
2 0.925 0.080 9 110682708 missense variant T/A snv 1.6E-05 0.700 1.000 5 2004 2014
dbSNP: rs551423795
rs551423795
MUSK
4 0.925 0.080 9 110687218 missense variant A/G snv 2.4E-05 1.4E-05 0.700 0
dbSNP: rs756877019
rs756877019
MUSK
3 1.000 9 110800760 missense variant G/C snv 4.0E-06 0.700 0
dbSNP: rs879255561
rs879255561
MUSK
1 1.000 9 110687127 frameshift variant -/C delins 0.700 0