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: rs1425998598
rs1425998598
BPTF
0.763 0.240 17 67918802 missense variant G/A;C snv 1.2E-05
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.700 1.000 1 2017 2017
dbSNP: rs1057518083
rs1057518083
DYNC1H1
0.851 0.120 14 101986552 missense variant C/T snv
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.700 0
dbSNP: rs1057518871
rs1057518871
COL5A1
0.925 0.120 9 134798410 frameshift variant C/- delins
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.700 0
dbSNP: rs1057518879
rs1057518879
PLOD1
0.776 0.280 1 11965571 stop gained G/A snv
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.700 0
dbSNP: rs1057518909
rs1057518909
FBN1
0.925 0.120 15 48534099 frameshift variant CATT/- delins
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.700 0
dbSNP: rs1057519389
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.700 0
dbSNP: rs1085307845
rs1085307845
PHIP
0.752 0.320 6 79025582 missense variant G/T snv
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.700 0
dbSNP: rs1085307993
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.700 0
dbSNP: rs1085308004
rs1085308004
FBN1
0.807 0.240 15 48425420 missense variant A/G snv
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.700 0
dbSNP: rs111854391
rs111854391
TGFBR1
0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.700 0
dbSNP: rs112550005
rs112550005
FBN1
0.742 0.240 15 48425829 stop gained G/A snv
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.700 0
dbSNP: rs113812345
rs113812345
FBN1
0.790 0.160 15 48513591 stop gained G/A snv
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.700 0
dbSNP: rs121918467
rs121918467
PTPN11
0.807 0.280 12 112486482 missense variant C/A;T snv 8.0E-06; 1.2E-05
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.700 0
dbSNP: rs1232880706
rs1232880706
FBN1
0.689 0.440 15 48526247 stop gained C/A;T snv
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.700 0
dbSNP: rs1276519904
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.700 0
dbSNP: rs137854461
rs137854461
FBN1
0.790 0.280 15 48437026 missense variant T/C snv
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.700 0
dbSNP: rs137854466
rs137854466
FBN1
0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.700 0
dbSNP: rs142239530
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.700 0
dbSNP: rs1443187318
rs1443187318
AEBP1
0.882 0.080 7 44108060 stop gained -/A delins 1.3E-05
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.700 0
dbSNP: rs1553517323
rs1553517323
COL5A2
1.000 2 189085204 missense variant C/A snv
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.700 0
dbSNP: rs1554700718
rs1554700718
HNRNPK
0.658 0.360 9 83975540 non coding transcript exon variant T/C snv
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: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.700 0
dbSNP: rs1555398397
rs1555398397
FBN1
0.807 0.240 15 48485436 missense variant C/T snv
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.700 0
dbSNP: rs1555398673
rs1555398673
FBN1
0.807 0.200 15 48488433 missense variant A/G snv
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.700 0
dbSNP: rs1555572254
rs1555572254
COL1A1
17 50188569 frameshift variant G/- delins
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.700 0