Gene: FAM187A ×
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: rs145457535
rs145457535
CCDC103 ; FAM187A
3 0.827 0.160 17 44902549 missense variant A/C snv 1.2E-03 1.3E-03 0.700 1.000 6 2012 2018
dbSNP: rs1060503433
rs1060503433
EFTUD2 ; CCDC103 ; FAM187A
1 17 44901113 stop gained C/T snv 0.700 0
dbSNP: rs746242380
rs746242380
CCDC103 ; FAM187A
4 1.000 0.080 17 44902646 frameshift variant AGAG/-;AG;AGAGAG delins 1.6E-05 2.8E-05 0.700 0