Gene: SGSH ×
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: rs138504221
rs138504221
SGSH
9 0.807 0.280 17 80212128 missense variant A/G snv 9.6E-05 1.5E-04 0.700 0
dbSNP: rs529855742
rs529855742
SGSH
15 0.827 0.320 17 80214291 missense variant G/A snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs752914124
rs752914124
SGSH
8 0.827 0.280 17 80210679 stop gained GGAGGTCCTTG/- del 0.700 0