Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs387906978
rs387906978
0.925 17 8121693 missense variant C/A snv 2.8E-05
SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE
0.700 1.000 2 2008 2010
dbSNP: rs387906979
rs387906979
0.925 17 8122397 missense variant T/C snv
SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE
0.700 1.000 2 2008 2010
dbSNP: rs1332109041
rs1332109041
1.000 17 8123083 missense variant T/C snv 8.6E-06 1.4E-05
SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE
0.700 0