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: rs1554726245
rs1554726245
COL5A1 ; LOC101448202
9 134834982 inframe deletion ACGCCGAGG/- delins
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.700 0
dbSNP: rs1554726245
rs1554726245
COL5A1 ; LOC101448202
9 134834982 inframe deletion ACGCCGAGG/- delins
CUI: C1851828
Disease: Cigarette-paper scars
Cigarette-paper scars 		0.700 0
dbSNP: rs1554726245
rs1554726245
COL5A1 ; LOC101448202
9 134834982 inframe deletion ACGCCGAGG/- delins
CUI: C0162154
Disease: Atrophic scar
Atrophic scar 		0.700 0
dbSNP: rs1554726245
rs1554726245
COL5A1 ; LOC101448202
9 134834982 inframe deletion ACGCCGAGG/- delins
CUI: C0241074
Disease: Hyperextensible skin
Hyperextensible skin 		0.700 0