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: 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: rs1554651489
rs1554651489
RMRP ; CCDC107
0.925 0.200 9 35658027 upstream gene variant -/GCTTCACAGAGTAG 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: rs727502776
rs727502776
RMRP ; CCDC107
0.925 0.200 9 35658027 upstream gene variant -/GCTTCACAGAGTAGT;GCTTCACAGAGTAGTGCTTCACAGAGTAGT delins 2.7E-04
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.700 1.000 4 2001 2015
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: 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: 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
dbSNP: rs1554651453
rs1554651453
RMRP ; CCDC107
1.000 0.160 9 35658023 upstream gene variant -/CTCAGCTTCACAGAGTAG delins
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 1.000 3 2001 2007
dbSNP: rs1554651507
rs1554651507
RMRP ; CCDC107
0.925 0.200 9 35658030 upstream gene variant -/TCACAGAGTA delins
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 1.000 3 2001 2005
dbSNP: rs1554651512
rs1554651512
RMRP ; CCDC107
1.000 0.160 9 35658030 upstream gene variant -/CACAGAGT delins
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 1.000 3 2001 2007
dbSNP: rs1554651513
rs1554651513
RMRP ; CCDC107
1.000 0.160 9 35658030 upstream gene variant -/CACAGAGTAGT delins
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 1.000 3 2001 2007
dbSNP: rs1554651543
rs1554651543
RMRP ; CCDC107
0.925 0.200 9 35658035 upstream gene variant -/GAGTAGT delins
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.700 1.000 3 2001 2010
dbSNP: rs1554651544
rs1554651544
RMRP ; CCDC107
1.000 0.160 9 35658035 upstream gene variant -/GAAGCTGAGTAGTA delins
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 1.000 3 2001 2007
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