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: rs78311289
rs78311289
FGFR3
11 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.720 1.000 1 2007 2011
dbSNP: rs587779383
rs587779383
FGFR3
2 0.851 0.120 4 1806157 missense variant A/C;G;T snv 0.700 1.000 1 2007 2007
dbSNP: rs1014959895
rs1014959895
PRMT7
16 0.763 0.360 16 68329105 stop gained G/C;T snv 4.0E-06; 1.6E-05 0.700 0
dbSNP: rs1251713297
rs1251713297
PRMT7
15 0.776 0.360 16 68355785 stop gained C/A snv 8.1E-06 0.700 0