Source: ALL

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: rs551450545
rs551450545
RMRP ; CCDC107
0.925 0.200 9 35657776 non coding transcript exon variant T/C;G snv 1.2E-04 9.8E-05
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 1.000 9 2002 2016
dbSNP: rs772443941
rs772443941
RMRP ; CCDC107
1.000 0.160 9 35658014 non coding transcript exon variant G/A snv 1.1E-04 9.8E-05
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 1.000 9 2002 2015
dbSNP: rs199476103
rs199476103
RMRP ; CCDC107
0.851 0.200 9 35657948 non coding transcript exon variant T/C snv 8.7E-04; 2.3E-05 1.5E-03
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.700 1.000 8 1994 2007
dbSNP: rs948931144
rs948931144
RMRP ; CCDC107
0.925 0.200 9 35657823 non coding transcript exon variant G/A;C;T snv 6.9E-05; 7.7E-06
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.700 1.000 6 2001 2007
dbSNP: rs1554651153
rs1554651153
RMRP ; CCDC107
1.000 0.160 9 35657836 non coding transcript exon variant C/A;G;T snv
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 1.000 5 2005 2015
dbSNP: rs753874439
rs753874439
RMRP ; CCDC107
0.925 0.200 9 35657872 non coding transcript exon variant C/A;G;T snv 7.7E-06; 3.1E-05; 4.6E-05
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 1.000 5 2002 2010
dbSNP: rs786204684
rs786204684
RMRP ; CCDC107
0.851 0.200 9 35657955 non coding transcript exon variant G/A snv 3.1E-05 4.2E-05
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 1.000 5 2002 2007
dbSNP: rs786204684
rs786204684
RMRP ; CCDC107
0.851 0.200 9 35657955 non coding transcript exon variant G/A snv 3.1E-05 4.2E-05
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.700 1.000 4 2002 2007
dbSNP: rs936059863
rs936059863
RMRP ; CCDC107
0.925 0.200 9 35657800 non coding transcript exon variant T/C;G snv 1.5E-05; 7.7E-06
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.700 1.000 4 2003 2007
dbSNP: rs948931144
rs948931144
RMRP ; CCDC107
0.925 0.200 9 35657823 non coding transcript exon variant G/A;C;T snv 6.9E-05; 7.7E-06
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 1.000 4 2002 2007
dbSNP: rs1156413585
rs1156413585
RMRP ; CCDC107
1.000 0.160 9 35657978 non coding transcript exon variant C/T snv 7.7E-06
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 1.000 3 2005 2010
dbSNP: rs199476103
rs199476103
RMRP ; CCDC107
0.851 0.200 9 35657948 non coding transcript exon variant T/C snv 8.7E-04; 2.3E-05 1.5E-03
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 1.000 3 2002 2007
dbSNP: rs551450545
rs551450545
RMRP ; CCDC107
0.925 0.200 9 35657776 non coding transcript exon variant T/C;G snv 1.2E-04 9.8E-05
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.700 1.000 3 2002 2015
dbSNP: rs753874439
rs753874439
RMRP ; CCDC107
0.925 0.200 9 35657872 non coding transcript exon variant C/A;G;T snv 7.7E-06; 3.1E-05; 4.6E-05
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.700 1.000 3 2002 2007
dbSNP: rs192060920
rs192060920
RMRP ; CCDC107
1.000 0.160 9 35657807 non coding transcript exon variant G/A;C snv 6.2E-05; 7.8E-06
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 1.000 2 2002 2006
dbSNP: rs936059863
rs936059863
RMRP ; CCDC107
0.925 0.200 9 35657800 non coding transcript exon variant T/C;G snv 1.5E-05; 7.7E-06
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 1.000 2 2003 2007
dbSNP: rs727502774
rs727502774
RMRP ; CCDC107
1.000 0.160 9 35657756 non coding transcript exon variant C/A;G;T snv 8.1E-06; 1.6E-05
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 1.000 1 2002 2002
dbSNP: rs199476103
rs199476103
RMRP ; CCDC107
0.851 0.200 9 35657948 non coding transcript exon variant T/C snv 8.7E-04; 2.3E-05 1.5E-03
CUI: C1834821
Disease: METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS
METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS 		0.700 0
dbSNP: rs199476103
rs199476103
RMRP ; CCDC107
0.851 0.200 9 35657948 non coding transcript exon variant T/C snv 8.7E-04; 2.3E-05 1.5E-03
CUI: C4551965
Disease: ANAUXETIC DYSPLASIA 1
ANAUXETIC DYSPLASIA 1 		0.700 0
dbSNP: rs786204684
rs786204684
RMRP ; CCDC107
0.851 0.200 9 35657955 non coding transcript exon variant G/A snv 3.1E-05 4.2E-05
CUI: C4551965
Disease: ANAUXETIC DYSPLASIA 1
ANAUXETIC DYSPLASIA 1 		0.700 0
dbSNP: rs786204684
rs786204684
RMRP ; CCDC107
0.851 0.200 9 35657955 non coding transcript exon variant G/A snv 3.1E-05 4.2E-05
CUI: C1834821
Disease: METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS
METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS 		0.700 0
dbSNP: rs727502776
rs727502776
RMRP ; CCDC107
0.925 0.200 9 35658027 upstream gene variant -/GCTTCACAGAGTAGT;GCTTCACAGAGTAGTGCTTCACAGAGTAGT delins 2.7E-04
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 1.000 9 2001 2015
dbSNP: rs1554651506
rs1554651506
RMRP ; CCDC107
1.000 0.160 9 35658030 upstream gene variant -/TCACAGA delins
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 1.000 8 2001 2008
dbSNP: rs1554651411
rs1554651411
RMRP ; CCDC107
1.000 0.160 9 35658020 upstream gene variant -/CCTCAGCTTCACAGAGTAGT;GTCCTCAGCTTCACAGAGTAGT delins
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 1.000 6 2001 2007
dbSNP: rs1554651489
rs1554651489
RMRP ; CCDC107
0.925 0.200 9 35658027 upstream gene variant -/GCTTCACAGAGTAG delins
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.700 1.000 6 2001 2017