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: rs137854889
rs137854889
ZMPSTE24
0.742 0.440 1 40290871 frameshift variant T/-;TT 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: C1857042
Disease: Sparse scalp hair
Sparse scalp hair 		0.700 0
dbSNP: rs1555154946
rs1555154946
ARID2 ; LOC105369745
0.827 0.120 12 45850644 stop gained C/T snv
CUI: C1857042
Disease: Sparse scalp hair
Sparse scalp hair 		0.700 0
dbSNP: rs387906846
rs387906846
ARID1A
0.807 0.280 1 26773716 stop gained C/G;T snv
CUI: C1857042
Disease: Sparse scalp hair
Sparse scalp hair 		0.700 0
dbSNP: rs765243124
rs765243124
COL17A1
0.827 0.160 10 104033953 frameshift variant CTCT/- delins 4.0E-06
CUI: C1857042
Disease: Sparse scalp hair
Sparse scalp hair 		0.700 0
dbSNP: rs875989800
rs875989800
SMARCB1
0.732 0.480 22 23833670 inframe deletion AGA/- delins
CUI: C1857042
Disease: Sparse scalp hair
Sparse scalp hair 		0.700 0
dbSNP: rs886041936
rs886041936
HDAC8
0.827 0.120 X 72495210 stop gained G/A snv
CUI: C1857042
Disease: Sparse scalp hair
Sparse scalp hair 		0.700 0