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: 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: rs1218494857
rs1218494857
RMRP ; CCDC107
1.000 0.160 9 35658018 upstream gene variant -/TCTCAGCTTCACAGAGACGT;TCTCAGCTTCACAGAGTACGT;TCTCAGCTTTACGT delins
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 0
dbSNP: rs1230629953
rs1230629953
RMRP ; CCDC107
1.000 0.160 9 35658025 upstream gene variant -/CTTCACAG;CTTCACAGCTTCACAG;TCCCCAGCTTCACAG delins 1.4E-05
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 0
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: 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: 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: rs1554651365
rs1554651365
RMRP ; CCDC107
1.000 0.160 9 35658016 non coding transcript exon variant -/CACGTCCTC delins
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 0
dbSNP: rs1554651368
rs1554651368
RMRP ; CCDC107
1.000 0.160 9 35658017 non coding transcript exon variant -/TCTCAGCTCACGT;TCTCAGCTTCACAGACACGT;TCTCAGCTTCACAGAGCACGT delins
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 0
dbSNP: rs1554651373
rs1554651373
RMRP ; CCDC107
1.000 0.160 9 35658017 non coding transcript exon variant -/GTCCTCAGCTTCAC delins
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 1.000 1 2002 2002
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: 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: 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: rs1554651397
rs1554651397
RMRP ; CCDC107
1.000 0.160 9 35658018 upstream gene variant -/TACGTCCTCAGCTTCACAGAGT delins
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 0
dbSNP: rs1554651400
rs1554651400
RMRP ; CCDC107
1.000 0.160 9 35658019 upstream gene variant -/CGTCCTCAGCTTC;GTCCTCAGCTTC delins
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 1.000 1 2002 2002
dbSNP: rs1554651403
rs1554651403
RMRP ; CCDC107
1.000 0.160 9 35658019 upstream gene variant -/CGTCCTCAGCTTCACAGAGT delins
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 0
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: rs1554651404
rs1554651404
RMRP ; CCDC107
0.925 0.200 9 35658019 upstream gene variant -/CGTCCTCAGCTTCACAGAG delins
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 0
dbSNP: rs1554651405
rs1554651405
RMRP ; CCDC107
1.000 0.160 9 35658020 upstream gene variant -/TCTCAGCTTCACAGAGT;TCTCAGCTTCACAGAGTAGT;TCTCAGCTTCACAGAGTGGT delins
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 0
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: 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: 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
dbSNP: rs1554651418
rs1554651418
RMRP ; CCDC107
1.000 0.160 9 35658020 upstream gene variant -/GTCCTCAGCTTCACAGAG delins
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 0
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: rs1554651424
rs1554651424
RMRP ; CCDC107
1.000 0.160 9 35658021 upstream gene variant -/TCCTCAGCTT delins
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 0