Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs587777699
rs587777699
LIPE ; LIPE-AS1 ; LOC101930071
1.000 19 42401822 frameshift variant ACCCCCGCAGCCCCCGTCT/-;ACCCCCGCAGCCCCCGTCTACCCCCGCAGCCCCCGTCT delins 5.4E-04
CUI: C4014869
Disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6 		0.700 0
dbSNP: rs766817317
rs766817317
LIPE ; LIPE-AS1 ; LOC101930071
1.000 19 42401940 stop gained C/A;T snv 6.6E-06
CUI: C4014869
Disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6 		0.700 0