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: 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: 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: 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: 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: 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: 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: 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
dbSNP: rs1554651425
rs1554651425
RMRP ; CCDC107
1.000 0.160 9 35658021 upstream gene variant -/CTCAGCTTC delins
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 0
dbSNP: rs1554651427
rs1554651427
RMRP ; CCDC107
1.000 0.160 9 35658021 upstream gene variant -/TCCTCAGCTTCACAGAGTA delins
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 0
dbSNP: rs1554651446
rs1554651446
RMRP ; CCDC107
1.000 0.160 9 35658023 upstream gene variant -/GCTCAG delins
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 0
dbSNP: rs1554651451
rs1554651451
RMRP ; CCDC107
1.000 0.160 9 35658023 upstream gene variant -/CTCAGCTTCACAGAGT delins
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 0
dbSNP: rs1554651461
rs1554651461
RMRP ; CCDC107
1.000 0.160 9 35658024 upstream gene variant -/TTTCACAGAGTATCAG delins
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 0
dbSNP: rs1554651462
rs1554651462
RMRP ; CCDC107
1.000 0.160 9 35658024 upstream gene variant -/TCAGCTT delins
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 0
dbSNP: rs1554651469
rs1554651469
RMRP ; CCDC107
0.925 0.160 9 35658025 upstream gene variant -/CCCCAGCTTCACAGAGT delins
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 0
dbSNP: rs1554651469
rs1554651469
RMRP ; CCDC107
0.925 0.160 9 35658025 upstream gene variant -/CCCCAGCTTCACAGAGT delins
CUI: C1834821
Disease: METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS
METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS 		0.700 0
dbSNP: rs1554651471
rs1554651471
RMRP ; CCDC107
1.000 0.160 9 35658025 upstream gene variant -/CCCCAGCTTCACAGAGTAGT delins
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 0
dbSNP: rs1554651481
rs1554651481
RMRP ; CCDC107
1.000 0.160 9 35658026 upstream gene variant -/AGCTTCACAGAG;CTTCACAGAG delins
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 0
dbSNP: rs1554651486
rs1554651486
RMRP ; CCDC107
1.000 0.160 9 35658027 upstream gene variant -/GCTTCACAGAG;GCTTCACAGAGGCTTCACAGAG;GCTTCACAGAGGCTTCACAGAGGCTTCACAGAG delins
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 0
dbSNP: rs1554651503
rs1554651503
RMRP ; CCDC107
1.000 0.160 9 35658029 upstream gene variant -/TCACAGAGT;TCACAGAGTTCACAGAGT;TTCACAGAGT delins
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 0
dbSNP: rs1554651505
rs1554651505
RMRP ; CCDC107
1.000 0.160 9 35658029 upstream gene variant -/TTCACAGA delins
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 0
dbSNP: rs1554651526
rs1554651526
RMRP ; CCDC107
1.000 0.160 9 35658031 upstream gene variant -/CACAGAGTAGTA delins
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 0