Disease: Short stature
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121912651
TP53
0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 37
rs1555535032
NF1
0.882 0.120 17 31338734 frameshift variant TTAC/- delins 9