Gene: SPC24 ×
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: rs7258950
rs7258950
SPC24
2 19 11139463 intron variant A/G;T snv 0.700 1.000 2 2016 2018
dbSNP: rs2738464
rs2738464
LDLR ; SPC24
3 1.000 0.120 19 11131631 3 prime UTR variant G/C snv 0.82 0.80 0.700 1.000 1 2018 2018
dbSNP: rs5742911
rs5742911
LDLR ; SPC24
3 19 11132769 3 prime UTR variant A/G snv 0.27 0.700 1.000 1 2012 2012