Source: BEFREE

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: rs137853128
rs137853128
SOX9 ; SOX9-AS1
0.925 0.080 17 72121618 missense variant C/A snv
CUI: C1861922
Disease: CAMPOMELIC DYSPLASIA
CAMPOMELIC DYSPLASIA 		0.710 1.000 1 1995 2013
dbSNP: rs1042667
rs1042667
SOX9 ; SOX9-AS1
1.000 0.040 17 72124410 3 prime UTR variant A/C snv 0.41 0.36
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2016 2016
dbSNP: rs1042667
rs1042667
SOX9 ; SOX9-AS1
1.000 0.040 17 72124410 3 prime UTR variant A/C snv 0.41 0.36
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.010 1.000 1 2019 2019
dbSNP: rs1042667
rs1042667
SOX9 ; SOX9-AS1
1.000 0.040 17 72124410 3 prime UTR variant A/C snv 0.41 0.36
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2016 2016
dbSNP: rs12601701
rs12601701
SOX9 ; SOX9-AS1 ; LOC107987249
1.000 0.040 17 72119217 intron variant G/A snv 0.35
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.010 1.000 1 2019 2019
dbSNP: rs1357275943
rs1357275943
SOX9 ; SOX9-AS1
1.000 0.160 17 72123906 missense variant C/T snv
CUI: C2936694
Disease: Swyer Syndrome
Swyer Syndrome 		0.010 1.000 1 2019 2019
dbSNP: rs140991990
rs140991990
SOX9-AS1 ; LINC02097
1.000 0.080 17 72101710 intron variant A/G snv 5.5E-04
CUI: C4048328
Disease: cervical cancer
cervical cancer 		0.010 1.000 1 2020 2020
dbSNP: rs2229989
rs2229989
SOX9 ; SOX9-AS1
0.925 0.120 17 72122794 missense variant C/G;T snv 0.19
CUI: C1840061
Disease: SMALL PATELLA SYNDROME
SMALL PATELLA SYNDROME 		0.010 1.000 1 2013 2013
dbSNP: rs2229989
rs2229989
SOX9 ; SOX9-AS1
0.925 0.120 17 72122794 missense variant C/G;T snv 0.19
CUI: C1865783
Disease: Pierre Robin sequence with pectus excavatum and rib and scapular anomalies
Pierre Robin sequence with pectus excavatum and rib and scapular anomalies 		0.010 1.000 1 2013 2013
dbSNP: rs73354570
rs73354570
SOX9 ; SOX9-AS1
1.000 0.080 17 72125316 3 prime UTR variant A/C snv 6.7E-02
CUI: C0029458
Disease: Osteoporosis, Postmenopausal
Osteoporosis, Postmenopausal 		0.010 1.000 1 2020 2020
dbSNP: rs748989255
rs748989255
SOX9 ; SOX9-AS1
1.000 0.080 17 72121687 missense variant G/A snv 7.0E-06
CUI: C2751826
Disease: Multiple Synostoses Syndrome 3
Multiple Synostoses Syndrome 3 		0.010 1.000 1 2017 2017
dbSNP: rs769269532
rs769269532
SOX9 ; SOX9-AS1
1.000 0.040 17 72124262 missense variant A/G snv 2.4E-05 1.4E-05
CUI: C0559260
Disease: Congenital scoliosis
Congenital scoliosis 		0.010 < 0.001 1 2019 2019
dbSNP: rs769269532
rs769269532
SOX9 ; SOX9-AS1
1.000 0.040 17 72124262 missense variant A/G snv 2.4E-05 1.4E-05
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 < 0.001 1 2019 2019