Source: CURATED ×
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: rs7811417
rs7811417
SP4
1 1.000 0.040 7 21494534 intron variant T/C snv 0.70 0.700 1.000 2 2017 2019
dbSNP: rs73060317
rs73060317
SP4
1 1.000 0.040 7 21480594 intron variant T/G snv 0.18 0.700 1.000 1 2015 2015