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: 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: 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: rs1340624774
rs1340624774
RMRP ; CCDC107
1.000 0.120 9 35657920 non coding transcript exon variant -/AC delins 1.5E-05
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.700 0
dbSNP: rs387906533
rs387906533
RMRP ; CCDC107
1.000 0.120 9 35657927 non coding transcript exon variant CT/GC mnv
CUI: C4551965
Disease: ANAUXETIC DYSPLASIA 1
ANAUXETIC DYSPLASIA 1 		0.700 0
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: 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: 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: 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: 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: 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: rs1554651422
rs1554651422
RMRP ; CCDC107
1.000 0.160 9 35658021 upstream gene variant -/TCCTCAGCTTCAC delins
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 1.000 4 2001 2007
dbSNP: rs1554651464
rs1554651464
RMRP ; CCDC107
1.000 0.160 9 35658024 upstream gene variant -/TCAGCTTCACA delins
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 1.000 4 2001 2007
dbSNP: rs1554651466
rs1554651466
RMRP ; CCDC107
1.000 0.160 9 35658024 upstream gene variant -/TCAGCTTCACAG delins
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 1.000 4 2001 2007
dbSNP: rs1554651473
rs1554651473
RMRP ; CCDC107
1.000 0.160 9 35658025 upstream gene variant -/CAGCTTCACAGAGTAGTA delins
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 1.000 4 2001 2007
dbSNP: rs1554651491
rs1554651491
RMRP ; CCDC107
1.000 0.160 9 35658027 upstream gene variant -/GCTTCACAGAGTAGTAT delins
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 1.000 4 2001 2007
dbSNP: rs1554651532
rs1554651532
RMRP ; CCDC107
1.000 0.160 9 35658032 upstream gene variant -/CAGAGTAGTA delins
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 1.000 4 2001 2007
dbSNP: rs759665242
rs759665242
RMRP ; CCDC107
1.000 0.160 9 35658015 non coding transcript exon variant -/CACCACGTCC delins 1.6E-05; 1.6E-05; 7.8E-06 1.4E-05
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 1.000 4 2001 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: rs1554651393
rs1554651393
RMRP ; CCDC107
1.000 0.160 9 35658018 upstream gene variant -/ACGTCCTCAG delins
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 1.000 3 2001 2007
dbSNP: rs1554651395
rs1554651395
RMRP ; CCDC107
1.000 0.160 9 35658018 upstream gene variant -/AACGTCCTCAGCTTCA delins
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 1.000 3 2001 2007
dbSNP: rs1554651428
rs1554651428
RMRP ; CCDC107
1.000 0.160 9 35658022 upstream gene variant -/CCTCAGCTTCACAGAGTAG delins
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 1.000 3 2001 2007