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: rs121912894
rs121912894
COL2A1
0.925 0.080 12 47993475 missense variant C/T snv
CUI: C1836081
Disease: RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT
RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs121912896
rs121912896
COL2A1
1.000 0.080 12 48000070 stop gained C/T snv
CUI: C1836080
Disease: Stickler Syndrome, Type I, Nonsyndromic Ocular
Stickler Syndrome, Type I, Nonsyndromic Ocular 		0.700 0
dbSNP: rs121912897
rs121912897
COL2A1
1.000 0.080 12 48000019 stop gained G/A;T snv 3.6E-05
CUI: C1836080
Disease: Stickler Syndrome, Type I, Nonsyndromic Ocular
Stickler Syndrome, Type I, Nonsyndromic Ocular 		0.700 0
dbSNP: rs121912899
rs121912899
COL2A1
1.000 0.080 12 47985771 missense variant C/A snv
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2 		0.700 0
dbSNP: rs1246771678
rs1246771678
COL2A1
1.000 0.240 12 48000055 stop gained G/A;T snv
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		0.700 0
dbSNP: rs138498898
rs138498898
COL2A1
1.000 0.080 12 47974258 missense variant G/A snv 1.6E-04 4.9E-05
CUI: C4551562
Disease: AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1 		0.700 0
dbSNP: rs1555164735
rs1555164735
COL2A1
1.000 0.240 12 47975472 frameshift variant G/- del
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		0.700 0
dbSNP: rs1555164872
rs1555164872
COL2A1
1.000 0.080 12 47975961 splice acceptor variant ACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCG/- del
CUI: C2745959
Disease: Spondyloepiphyseal dysplasia, congenita
Spondyloepiphyseal dysplasia, congenita 		0.700 0
dbSNP: rs1555165204
rs1555165204
COL2A1
1.000 0.240 12 47977428 splice acceptor variant C/T snv
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		0.700 0
dbSNP: rs1555165335
rs1555165335
COL2A1
1.000 0.080 12 47978042 inframe deletion CACGGGGCCAGGAGGACC/- delins
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2 		0.700 0
dbSNP: rs1555166218
rs1555166218
COL2A1 ; LOC105369752
1.000 0.240 12 47981804 frameshift variant G/-;GG delins
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		0.700 0
dbSNP: rs1555166295
rs1555166295
COL2A1 ; LOC105369752
1.000 0.240 12 47982105 splice donor variant A/- del
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		0.700 0
dbSNP: rs1555166555
rs1555166555
COL2A1 ; LOC105369752
1.000 0.240 12 47982940 stop gained G/A snv
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		0.700 0
dbSNP: rs1555166658
rs1555166658
COL2A1
1.000 0.240 12 47983384 splice donor variant C/T snv
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		0.700 0
dbSNP: rs1555166729
rs1555166729
COL2A1
1.000 0.080 12 47983699 missense variant C/T snv
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2 		0.700 0
dbSNP: rs1555167139
rs1555167139
COL2A1
12 47985937 missense variant C/T snv
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		0.700 0
dbSNP: rs1555167783
rs1555167783
COL2A1
1.000 0.080 12 47989236 missense variant C/T snv
CUI: C2745959
Disease: Spondyloepiphyseal dysplasia, congenita
Spondyloepiphyseal dysplasia, congenita 		0.700 0
dbSNP: rs1555168309
rs1555168309
COL2A1
1.000 0.240 12 47992930 splice acceptor variant C/- delins
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		0.700 0
dbSNP: rs1555168965
rs1555168965
COL2A1
1.000 0.240 12 47996544 splice region variant T/- delins
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		0.700 0
dbSNP: rs1565664095
rs1565664095
COL2A1
1.000 0.080 12 47973418 missense variant A/G snv
CUI: C2745959
Disease: Spondyloepiphyseal dysplasia, congenita
Spondyloepiphyseal dysplasia, congenita 		0.700 0
dbSNP: rs1565664375
rs1565664375
COL2A1
1.000 0.080 12 47973534 frameshift variant C/- delins
CUI: C0796173
Disease: Spondyloperipheral dysplasia short ulna
Spondyloperipheral dysplasia short ulna 		0.700 0
dbSNP: rs1565679039
rs1565679039
COL2A1
0.701 0.400 12 47983399 stop gained T/A snv
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.700 0
dbSNP: rs1565679039
rs1565679039
COL2A1
0.701 0.400 12 47983399 stop gained T/A snv
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		0.700 0
dbSNP: rs1565679039
rs1565679039
COL2A1
0.701 0.400 12 47983399 stop gained T/A snv
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		0.700 0
dbSNP: rs1565679039
rs1565679039
COL2A1
0.701 0.400 12 47983399 stop gained T/A snv
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		0.700 0