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: rs1554402678
rs1554402678
DLD ; LAMB1
1 1.000 7 107931500 missense variant C/T snv 0.700 0
dbSNP: rs1554406824
rs1554406824
LAMB1
1 1.000 7 107959255 missense variant C/T snv 0.700 0
dbSNP: rs387907343
rs387907343
LAMB1
1 1.000 7 107952145 stop gained TGACCAGTGGCTTT/ATTAGGAAGACACAAGCACATTAGGAAGACACAAGCACTGG delins 0.700 0
dbSNP: rs387907344
rs387907344
LAMB1
1 1.000 7 107961205 splice donor variant C/A snv 4.0E-06 0.700 0
dbSNP: rs879255266
rs879255266
LAMB1
1 1.000 7 107953678 frameshift variant C/- del 0.700 0
dbSNP: rs879255267
rs879255267
LAMB1
1 1.000 7 107975026 missense variant C/A;T snv 0.700 0