Gene: SHOX ×
Source: CLINVAR ×
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: rs137852552
rs137852552
SHOX
2 1.000 0.080 Y 641037 stop gained C/A;T snv 0.700 0
dbSNP: rs193922466
rs193922466
SHOX
1 Y 634687 missense variant A/G snv 0.700 0