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: 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: 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: 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: 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: 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
dbSNP: rs1554651508
rs1554651508
RMRP ; CCDC107
1.000 0.120 9 35658030 upstream gene variant -/CACAGAGTAGTAT;CACAGAGTAGTATCACAGAGTAGTAT delins
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.700 1.000 6 2001 2014
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: rs1554651404
rs1554651404
RMRP ; CCDC107
0.925 0.200 9 35658019 upstream gene variant -/CGTCCTCAGCTTCACAGAG delins
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.700 1.000 5 2001 2011
dbSNP: rs1554651413
rs1554651413
RMRP ; CCDC107
0.925 0.200 9 35658020 upstream gene variant -/GTCCTCAGCTTCACAGAGTAGTA delins
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.700 1.000 5 2001 2011
dbSNP: rs1554651499
rs1554651499
RMRP ; CCDC107
1.000 0.160 9 35658029 upstream gene variant -/CACAGAGTAGTATT delins
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 1.000 5 2001 2010
dbSNP: rs1554651543
rs1554651543
RMRP ; CCDC107
0.925 0.200 9 35658035 upstream gene variant -/GAGTAGT delins
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 1.000 5 2001 2010
dbSNP: rs1563907686
rs1563907686
RMRP ; CCDC107
1.000 0.120 9 35658015 non coding transcript exon variant -/ACCACGTCCTCAGCTTCACAGAGTAGTATTTTATAG delins
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.700 1.000 5 2001 2011
dbSNP: rs1563907946
rs1563907946
RMRP ; CCDC107
0.925 0.200 9 35658023 upstream gene variant -/TCAGCTTC delins
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.700 1.000 5 2001 2005
dbSNP: rs727502778
rs727502778
RMRP ; CCDC107
1.000 0.160 9 35658020 upstream gene variant -/CCTCAGCTTCACAGAGT delins 2.4E-04; 3.1E-05; 6.3E-05; 7.9E-06; 7.9E-06; 7.9E-06
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 1.000 5 2001 2007
dbSNP: rs752934195
rs752934195
RMRP ; CCDC107
1.000 0.160 9 35658017 non coding transcript exon variant -/CGTCCTCA delins 1.7E-04; 7.8E-06; 2.3E-05; 3.1E-05; 3.1E-05; 4.7E-05
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 1.000 5 2001 2008
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: rs781730798
rs781730798
RMRP ; CCDC107
0.925 0.200 9 35658029 upstream gene variant -/TTCACAGAGTAGT delins
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 1.000 5 2001 2008
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: rs1554651364
rs1554651364
RMRP ; CCDC107
1.000 0.160 9 35658016 non coding transcript exon variant -/TCTCAGCTTCCACGT delins
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 1.000 4 2001 2007
dbSNP: rs1554651382
rs1554651382
RMRP ; CCDC107
1.000 0.160 9 35658017 non coding transcript exon variant -/CACGTCCTCAGCTTCACAGA delins
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 1.000 4 2001 2007
dbSNP: rs1554651396
rs1554651396
RMRP ; CCDC107
1.000 0.160 9 35658018 upstream gene variant -/CGTCCTCAGCTTCACAGA delins
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 1.000 4 2001 2007
dbSNP: rs1554651413
rs1554651413
RMRP ; CCDC107
0.925 0.200 9 35658020 upstream gene variant -/GTCCTCAGCTTCACAGAGTAGTA delins
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 1.000 4 2001 2007