Gene: KMT2D ×
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: rs1555186842
rs1555186842
KMT2D
2 1.000 12 49030285 frameshift variant -/GTGCCCTT delins 0.700 1.000 25 1988 2017