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: rs1554596397
rs1554596397
TRPS1
1.000 8 115604881 stop gained A/C snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 5 2000 2015
dbSNP: rs1554596397
rs1554596397
TRPS1
1.000 8 115604881 stop gained A/C snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 5 2000 2015
dbSNP: rs121908431
rs121908431
TRPS1
1.000 0.080 8 115604099 stop gained G/A;C snv 8.0E-06
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.700 1.000 1 2015 2015
dbSNP: rs121908432
rs121908432
TRPS1
1.000 0.080 8 115587144 stop gained G/A snv
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.700 1.000 1 2015 2015
dbSNP: rs1554592981
rs1554592981
TRPS1
1.000 0.080 8 115587306 frameshift variant -/G delins
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.700 1.000 1 2015 2015
dbSNP: rs1554592995
rs1554592995
TRPS1
1.000 0.080 8 115587345 frameshift variant CT/- delins
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.700 1.000 1 2015 2015
dbSNP: rs1554593099
rs1554593099
TRPS1
1.000 0.080 8 115587521 frameshift variant CA/- delins
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.700 1.000 1 2015 2015
dbSNP: rs1554595857
rs1554595857
TRPS1
1.000 0.080 8 115603875 stop gained G/T snv
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.700 1.000 1 2015 2015
dbSNP: rs1554595930
rs1554595930
TRPS1
1.000 0.080 8 115604087 stop gained G/A snv
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.700 1.000 1 2015 2015
dbSNP: rs1554596193
rs1554596193
TRPS1
1.000 0.080 8 115604509 frameshift variant T/- delins
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.700 1.000 1 2015 2015
dbSNP: rs1554596300
rs1554596300
TRPS1
1.000 0.080 8 115604737 frameshift variant -/G delins
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.700 1.000 1 2015 2015
dbSNP: rs1554596328
rs1554596328
TRPS1
1.000 0.080 8 115604792 frameshift variant -/A delins
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.700 1.000 1 2015 2015
dbSNP: rs1554596391
rs1554596391
TRPS1
1.000 0.080 8 115604864 stop gained G/A snv
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.700 1.000 1 2015 2015
dbSNP: rs1554596393
rs1554596393
TRPS1
1.000 0.080 8 115604876 stop gained G/A snv
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.700 1.000 1 2015 2015
dbSNP: rs1554596430
rs1554596430
TRPS1
1.000 0.080 8 115604954 frameshift variant -/ATCTG delins
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.700 1.000 1 2015 2015
dbSNP: rs1554616802
rs1554616802
TRPS1
1.000 0.080 8 115414484 frameshift variant T/- del
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.700 1.000 1 2015 2015
dbSNP: rs1554616950
rs1554616950
TRPS1
1.000 0.080 8 115414768 frameshift variant G/- delins
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.700 1.000 1 2015 2015
dbSNP: rs1554616971
rs1554616971
TRPS1
1.000 0.080 8 115414831 frameshift variant C/- del
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.700 1.000 1 2015 2015
dbSNP: rs1554617011
rs1554617011
TRPS1
1.000 0.080 8 115414924 frameshift variant CTCT/- delins
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.700 1.000 1 2015 2015
dbSNP: rs1554617078
rs1554617078
TRPS1
1.000 0.080 8 115415048 frameshift variant -/GTTTTGTT delins
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.700 1.000 1 2015 2015
dbSNP: rs1554617549
rs1554617549
TRPS1
1.000 0.080 8 115418329 splice donor variant C/A snv
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.700 1.000 1 2015 2015
dbSNP: rs1554617561
rs1554617561
TRPS1
1.000 0.080 8 115418352 missense variant C/A snv
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.700 1.000 1 2015 2015
dbSNP: rs1554617567
rs1554617567
TRPS1
1.000 0.080 8 115418369 frameshift variant -/G ins
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.700 1.000 1 2015 2015
dbSNP: rs1554617573
rs1554617573
TRPS1
1.000 0.080 8 115418397 missense variant A/G snv
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.700 1.000 1 2015 2015
dbSNP: rs1554617580
rs1554617580
TRPS1
1.000 0.080 8 115418421 missense variant T/C snv
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.700 1.000 1 2015 2015