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: rs1554617582
rs1554617582
TRPS1
0.925 0.080 8 115418427 frameshift variant -/A delins
CUI: C1857042
Disease: Sparse scalp hair
Sparse scalp hair 		0.700 0
dbSNP: rs1554617582
rs1554617582
TRPS1
0.925 0.080 8 115418427 frameshift variant -/A delins
CUI: C1865014
Disease: Long philtrum
Long philtrum 		0.700 0
dbSNP: rs1554617582
rs1554617582
TRPS1
0.925 0.080 8 115418427 frameshift variant -/A delins
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		0.700 0
dbSNP: rs1554617582
rs1554617582
TRPS1
0.925 0.080 8 115418427 frameshift variant -/A delins
CUI: C0023003
Disease: Langer-Giedion Syndrome
Langer-Giedion Syndrome 		0.700 0
dbSNP: rs1554617582
rs1554617582
TRPS1
0.925 0.080 8 115418427 frameshift variant -/A delins
CUI: C0344511
Disease: Atresia of nasolacrimal duct
Atresia of nasolacrimal duct 		0.700 0
dbSNP: rs1554617582
rs1554617582
TRPS1
0.925 0.080 8 115418427 frameshift variant -/A delins
CUI: C1856118
Disease: Prominent nasal tip
Prominent nasal tip 		0.700 0