Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121964863
rs121964863
DDR2
1.000 0.120 1 162776341 missense variant C/T snv
CUI: C1849011
Disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE 		0.810 1.000 3 2009 2016
dbSNP: rs121964865
rs121964865
DDR2
1.000 0.120 1 162776225 missense variant C/A;T snv 4.0E-06
CUI: C1849011
Disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE 		0.810 1.000 3 2009 2016
dbSNP: rs397514747
rs397514747
DDR2
1.000 0.120 1 162754775 missense variant G/A snv
CUI: C1849011
Disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE 		0.810 1.000 3 2009 2016
dbSNP: rs121964864
rs121964864
DDR2
1.000 0.120 1 162776264 missense variant T/G snv
CUI: C1849011
Disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE 		0.800 1.000 3 2009 2016