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rs1064797076

From SNPedia

ClinVar
Risk rs1064797076(-;-)
Alt rs1064797076(-;-)
Reference Rs1064797076(GCGCACTTCAC;GCGCACTTCAC)
Significance Pathogenic
Disease Congenital generalized lipodystrophy type 2
Variation info
Gene HNRNPUL2-BSCL2 BSCL2
CLNDBN Congenital generalized lipodystrophy type 2
Reversed 1
HGVS NC_000011.9:g.62459857_62459867delGTGAAGTGCGC
CLNSRC
CLNACC RCV000487432.1,