Links from Gene
Items: 1 to 20 of 1000
1.
rs1491563346 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 6:87617207
(GRCh38)
6:88326925
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87617206:AT:
- Gene:
- ORC3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000014/2
(GnomAD)
-=0.000026/7
(TOPMED)
-=0.000156/1
(1000Genomes)
- HGVS:
2.
rs1491536606 has merged into rs1156943778 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 6:87644087
(GRCh38)
6:88353805
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87644079:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000006.12:87644079:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:87644079:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:87644079:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:87644079:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:87644079:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:87644079:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:87644079:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:87644079:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:87644079:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:87644079:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:87644079:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:87644079:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:87644079:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:87644079:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:87644079:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:87644079:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:87644079:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:87644079:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:87644079:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:87644079:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:87644079:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:87644079:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:87644079:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:87644079:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:87644079:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:87644079:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:87644079:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:87644079:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:87644079:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:87644079:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:87644079:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:87644079:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:87644079:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:87644079:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:87644079:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:87644079:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:87644079:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:87644079:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:87644079:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:87644079:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:87644079:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:87644079:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:87644079:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:87644079:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:87644079:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:87644079:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:87644079:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:87644079:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:87644079:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:87644079:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:87644079:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:87644079:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:87644079:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:87644079:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ORC3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000006.12:g.87644087_87644110del, NC_000006.12:g.87644090_87644110del, NC_000006.12:g.87644091_87644110del, NC_000006.12:g.87644092_87644110del, NC_000006.12:g.87644093_87644110del, NC_000006.12:g.87644094_87644110del, NC_000006.12:g.87644095_87644110del, NC_000006.12:g.87644096_87644110del, NC_000006.12:g.87644097_87644110del, NC_000006.12:g.87644098_87644110del, NC_000006.12:g.87644099_87644110del, NC_000006.12:g.87644100_87644110del, NC_000006.12:g.87644101_87644110del, NC_000006.12:g.87644102_87644110del, NC_000006.12:g.87644103_87644110del, NC_000006.12:g.87644104_87644110del, NC_000006.12:g.87644105_87644110del, NC_000006.12:g.87644106_87644110del, NC_000006.12:g.87644107_87644110del, NC_000006.12:g.87644108_87644110del, NC_000006.12:g.87644109_87644110del, NC_000006.12:g.87644110del, NC_000006.12:g.87644110dup, NC_000006.12:g.87644109_87644110dup, NC_000006.12:g.87644108_87644110dup, NC_000006.12:g.87644107_87644110dup, NC_000006.12:g.87644106_87644110dup, NC_000006.12:g.87644105_87644110dup, NC_000006.12:g.87644104_87644110dup, NC_000006.12:g.87644103_87644110dup, NC_000006.12:g.87644102_87644110dup, NC_000006.12:g.87644101_87644110dup, NC_000006.12:g.87644100_87644110dup, NC_000006.12:g.87644099_87644110dup, NC_000006.12:g.87644098_87644110dup, NC_000006.12:g.87644097_87644110dup, NC_000006.12:g.87644096_87644110dup, NC_000006.12:g.87644095_87644110dup, NC_000006.12:g.87644094_87644110dup, NC_000006.12:g.87644093_87644110dup, NC_000006.12:g.87644092_87644110dup, NC_000006.12:g.87644091_87644110dup, NC_000006.12:g.87644090_87644110dup, NC_000006.12:g.87644089_87644110dup, NC_000006.12:g.87644088_87644110dup, NC_000006.12:g.87644087_87644110dup, NC_000006.12:g.87644085_87644110dup, NC_000006.12:g.87644084_87644110dup, NC_000006.12:g.87644083_87644110dup, NC_000006.12:g.87644082_87644110dup, NC_000006.12:g.87644080_87644110dup, NC_000006.12:g.87644110_87644111insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.87644110_87644111insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.87644110_87644111insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.87644110_87644111insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.88353805_88353828del, NC_000006.11:g.88353808_88353828del, NC_000006.11:g.88353809_88353828del, NC_000006.11:g.88353810_88353828del, NC_000006.11:g.88353811_88353828del, NC_000006.11:g.88353812_88353828del, NC_000006.11:g.88353813_88353828del, NC_000006.11:g.88353814_88353828del, NC_000006.11:g.88353815_88353828del, NC_000006.11:g.88353816_88353828del, NC_000006.11:g.88353817_88353828del, NC_000006.11:g.88353818_88353828del, NC_000006.11:g.88353819_88353828del, NC_000006.11:g.88353820_88353828del, NC_000006.11:g.88353821_88353828del, NC_000006.11:g.88353822_88353828del, NC_000006.11:g.88353823_88353828del, NC_000006.11:g.88353824_88353828del, NC_000006.11:g.88353825_88353828del, NC_000006.11:g.88353826_88353828del, NC_000006.11:g.88353827_88353828del, NC_000006.11:g.88353828del, NC_000006.11:g.88353828dup, NC_000006.11:g.88353827_88353828dup, NC_000006.11:g.88353826_88353828dup, NC_000006.11:g.88353825_88353828dup, NC_000006.11:g.88353824_88353828dup, NC_000006.11:g.88353823_88353828dup, NC_000006.11:g.88353822_88353828dup, NC_000006.11:g.88353821_88353828dup, NC_000006.11:g.88353820_88353828dup, NC_000006.11:g.88353819_88353828dup, NC_000006.11:g.88353818_88353828dup, NC_000006.11:g.88353817_88353828dup, NC_000006.11:g.88353816_88353828dup, NC_000006.11:g.88353815_88353828dup, NC_000006.11:g.88353814_88353828dup, NC_000006.11:g.88353813_88353828dup, NC_000006.11:g.88353812_88353828dup, NC_000006.11:g.88353811_88353828dup, NC_000006.11:g.88353810_88353828dup, NC_000006.11:g.88353809_88353828dup, NC_000006.11:g.88353808_88353828dup, NC_000006.11:g.88353807_88353828dup, NC_000006.11:g.88353806_88353828dup, NC_000006.11:g.88353805_88353828dup, NC_000006.11:g.88353803_88353828dup, NC_000006.11:g.88353802_88353828dup, NC_000006.11:g.88353801_88353828dup, NC_000006.11:g.88353800_88353828dup, NC_000006.11:g.88353798_88353828dup, NC_000006.11:g.88353828_88353829insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.88353828_88353829insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.88353828_88353829insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.88353828_88353829insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
4.
rs1491439804 has merged into rs1297751774 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TATATATA>-,TATA,TATATA,TATATATATA
[Show Flanks]
- Chromosome:
- 6:87602937
(GRCh38)
6:88312655
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87602932:TATATATATATA:TATA,NC_000006.12:87602932:TATATATATATA:TATATATA,NC_000006.12:87602932:TATATATATATA:TATATATATA,NC_000006.12:87602932:TATATATATATA:TATATATATATATA
- Gene:
- ORC3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATATATA=0./0
(
ALFA)
TA=0.00112/2
(Korea1K)
- HGVS:
5.
rs1491439429 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CATATATAATATATATATATATATACATATATATATACA
[Show Flanks]
- Chromosome:
- 6:87602933
(GRCh38)
6:88312652
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87602933:ATATATATATACACATATATAATATATATATATATATACATATATATATACA:ATATATATATACACATATATAATATATATATATATATACATATATATATACACATATATAATATATATATATATATACATATATATATACA
- Gene:
- ORC3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
ATATATATATACACATATATAATATATATATATATATAC=0.000035/1
(TOMMO)
ATATATATATACACATATATAATATATATATATATATAC=0.000056/7
(GnomAD)
- HGVS:
6.
rs1491435113 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GCACGCGCGCACAC,GCACGCGCGCGCACAC,GCACGCGCGCGCGCACAC
[Show Flanks]
- Chromosome:
- 6:87676597
(GRCh38)
6:88386316
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87676597:CACAC:CACACGCACGCGCGCACAC,NC_000006.12:87676597:CACAC:CACACGCACGCGCGCGCACAC,NC_000006.12:87676597:CACAC:CACACGCACGCGCGCGCGCACAC
- Gene:
- ORC3 (Varview), AKIRIN2 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACACGCACGCGCGCGCACAC=0./0
(
ALFA)
CACACGCACGCGCGCGCG=0.000004/1
(TOPMED)
- HGVS:
8.
rs1491349314 has merged into rs112353955 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACACA
[Show Flanks]
- Chromosome:
- 6:87676608
(GRCh38)
6:88386326
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87676596:ACACACACACACACACACACACACACACACA:ACACACACACA,NC_000006.12:87676596:ACACACACACACACACACACACACACACACA:ACACACACACACA,NC_000006.12:87676596:ACACACACACACACACACACACACACACACA:ACACACACACACACA,NC_000006.12:87676596:ACACACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000006.12:87676596:ACACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000006.12:87676596:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000006.12:87676596:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000006.12:87676596:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000006.12:87676596:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000006.12:87676596:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000006.12:87676596:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000006.12:87676596:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000006.12:87676596:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000006.12:87676596:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000006.12:87676596:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:87676596:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:87676596:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:87676596:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:87676596:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:87676596:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:87676596:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:87676596:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:87676596:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:87676596:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:87676596:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:87676596:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
- Gene:
- ORC3 (Varview), AKIRIN2 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACA=0./0
(
ALFA)
ACACACACAC=0.4395/2201
(1000Genomes)
ACACACACAC=0.5/20
(GENOME_DK)
- HGVS:
NC_000006.12:g.87676598CA[5], NC_000006.12:g.87676598CA[6], NC_000006.12:g.87676598CA[7], NC_000006.12:g.87676598CA[8], NC_000006.12:g.87676598CA[9], NC_000006.12:g.87676598CA[10], NC_000006.12:g.87676598CA[11], NC_000006.12:g.87676598CA[12], NC_000006.12:g.87676598CA[13], NC_000006.12:g.87676598CA[14], NC_000006.12:g.87676598CA[16], NC_000006.12:g.87676598CA[17], NC_000006.12:g.87676598CA[18], NC_000006.12:g.87676598CA[19], NC_000006.12:g.87676598CA[20], NC_000006.12:g.87676598CA[21], NC_000006.12:g.87676598CA[22], NC_000006.12:g.87676598CA[23], NC_000006.12:g.87676598CA[24], NC_000006.12:g.87676598CA[25], NC_000006.12:g.87676598CA[26], NC_000006.12:g.87676598CA[27], NC_000006.12:g.87676598CA[28], NC_000006.12:g.87676598CA[29], NC_000006.12:g.87676598CA[30], NC_000006.12:g.87676598CA[31], NC_000006.11:g.88386316CA[5], NC_000006.11:g.88386316CA[6], NC_000006.11:g.88386316CA[7], NC_000006.11:g.88386316CA[8], NC_000006.11:g.88386316CA[9], NC_000006.11:g.88386316CA[10], NC_000006.11:g.88386316CA[11], NC_000006.11:g.88386316CA[12], NC_000006.11:g.88386316CA[13], NC_000006.11:g.88386316CA[14], NC_000006.11:g.88386316CA[16], NC_000006.11:g.88386316CA[17], NC_000006.11:g.88386316CA[18], NC_000006.11:g.88386316CA[19], NC_000006.11:g.88386316CA[20], NC_000006.11:g.88386316CA[21], NC_000006.11:g.88386316CA[22], NC_000006.11:g.88386316CA[23], NC_000006.11:g.88386316CA[24], NC_000006.11:g.88386316CA[25], NC_000006.11:g.88386316CA[26], NC_000006.11:g.88386316CA[27], NC_000006.11:g.88386316CA[28], NC_000006.11:g.88386316CA[29], NC_000006.11:g.88386316CA[30], NC_000006.11:g.88386316CA[31]
9.
rs1491339895 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 6:87650061
(GRCh38)
6:88359779
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87650056:CTCTCT:CTCT
- Gene:
- ORC3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CTCT=0./0
(
ALFA)
-=0.000009/1
(GnomAD)
- HGVS:
10.
rs1491339783 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 6:87602954
(GRCh38)
6:88312672
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87602953:AA:
- Gene:
- ORC3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00006/1
(
ALFA)
-=0.00007/1
(TOMMO)
-=0.00764/683
(GnomAD)
- HGVS:
12.
rs1491295479 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 6:87628836
(GRCh38)
6:88338555
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87628836:GGGGG:GGGGGG
- Gene:
- ORC3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGGG=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
13.
rs1491268933 has merged into rs1213946383 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATATAT>-,AT,ATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATTTATAAATATATATATATATAAATATATATATATATATATAT
[Show Flanks]
- Chromosome:
- 6:87674638
(GRCh38)
6:88384356
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87674624:TATATATATATATATATAT:TATATATATATAT,NC_000006.12:87674624:TATATATATATATATATAT:TATATATATATATAT,NC_000006.12:87674624:TATATATATATATATATAT:TATATATATATATATAT,NC_000006.12:87674624:TATATATATATATATATAT:TATATATATATATATATATAT,NC_000006.12:87674624:TATATATATATATATATAT:TATATATATATATATATATATAT,NC_000006.12:87674624:TATATATATATATATATAT:TATATATATATATATATATATATAT,NC_000006.12:87674624:TATATATATATATATATAT:TATATATATATATATATATATATATAT,NC_000006.12:87674624:TATATATATATATATATAT:TATATATATATATATATATATATTTATAAATATATATATATATAAATATATATATATATATATAT
- Gene:
- ORC3 (Varview), AKIRIN2 (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,downstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATATATATATAT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
NC_000006.12:g.87674626AT[6], NC_000006.12:g.87674626AT[7], NC_000006.12:g.87674626AT[8], NC_000006.12:g.87674626AT[10], NC_000006.12:g.87674626AT[11], NC_000006.12:g.87674626AT[12], NC_000006.12:g.87674626AT[13], NC_000006.12:g.87674625_87674643TA[11]TTTATAAATATATATATATATAAATATATATATATATATATAT[1], NC_000006.11:g.88384344AT[6], NC_000006.11:g.88384344AT[7], NC_000006.11:g.88384344AT[8], NC_000006.11:g.88384344AT[10], NC_000006.11:g.88384344AT[11], NC_000006.11:g.88384344AT[12], NC_000006.11:g.88384344AT[13], NC_000006.11:g.88384343_88384361TA[11]TTTATAAATATATATATATATAAATATATATATATATATATAT[1]
14.
rs1491260119 has merged into rs57399681 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT
[Show Flanks]
- Chromosome:
- 6:87674652
(GRCh38)
6:88384370
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87674642:TTTTTTTTTTTTT:TTTTTTTTT,NC_000006.12:87674642:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:87674642:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:87674642:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:87674642:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:87674642:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:87674642:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:87674642:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
- Gene:
- ORC3 (Varview), AKIRIN2 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTT=0./0
(
ALFA)
T=0.03177/19
(NorthernSweden)
- HGVS:
NC_000006.12:g.87674652_87674655del, NC_000006.12:g.87674653_87674655del, NC_000006.12:g.87674654_87674655del, NC_000006.12:g.87674655del, NC_000006.12:g.87674655dup, NC_000006.12:g.87674654_87674655dup, NC_000006.12:g.87674653_87674655dup, NC_000006.12:g.87674652_87674655dup, NC_000006.11:g.88384370_88384373del, NC_000006.11:g.88384371_88384373del, NC_000006.11:g.88384372_88384373del, NC_000006.11:g.88384373del, NC_000006.11:g.88384373dup, NC_000006.11:g.88384372_88384373dup, NC_000006.11:g.88384371_88384373dup, NC_000006.11:g.88384370_88384373dup
15.
rs1491201137 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CATATA
[Show Flanks]
- Chromosome:
- 6:87674625
(GRCh38)
6:88384344
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87674625:ATATA:ATATACATATA
- Gene:
- ORC3 (Varview), AKIRIN2 (Varview)
- Functional Consequence:
- downstream_transcript_variant,genic_downstream_transcript_variant,500B_downstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATACATATA=0./0
(
ALFA)
ATATAC=0.000024/3
(GnomAD)
- HGVS:
18.
rs1491102075 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,ATA,ATATA,ATATATA,ATATATATAAATATATATATATATATATATATATATA,ATATTTATAAATATATATATATATAAATATATATATATATATA,ATTTATAAATATATATATATAAAAATATATATATATATATA,ATTTATAAATATATATATATATAAATATATATATATATA,ATTTATAAATATATATATATATAAATATATATATATATATA,ATTTATATATATATATATATATAAATATATATATATATATA
[Show Flanks]
- Chromosome:
- 6:87674643
(GRCh38)
6:88384362
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87674643::A,NC_000006.12:87674643::ATA,NC_000006.12:87674643::ATATA,NC_000006.12:87674643::ATATATA,NC_000006.12:87674643::ATATATATAAATATATATATATATATATATATATATA,NC_000006.12:87674643::ATATTTATAAATATATATATATATAAATATATATATATATATA,NC_000006.12:87674643::ATTTATAAATATATATATATAAAAATATATATATATATATA,NC_000006.12:87674643::ATTTATAAATATATATATATATAAATATATATATATATA,NC_000006.12:87674643::ATTTATAAATATATATATATATAAATATATATATATATATA,NC_000006.12:87674643::ATTTATATATATATATATATATAAATATATATATATATATA
- Gene:
- ORC3 (Varview), AKIRIN2 (Varview)
- Functional Consequence:
- downstream_transcript_variant,genic_downstream_transcript_variant,500B_downstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATA=0./0
(
ALFA)
A=0.01505/9
(NorthernSweden)
A=0.02145/359
(TOMMO)
- HGVS:
NC_000006.12:g.87674643_87674644insA, NC_000006.12:g.87674643_87674644insATA, NC_000006.12:g.87674643_87674644insATATA, NC_000006.12:g.87674643_87674644insATATATA, NC_000006.12:g.87674643_87674644insATATATATAAATATATATATATATATATATATATATA, NC_000006.12:g.87674643_87674644insATATTTATAAATATATATATATATAAATATATATATATATATA, NC_000006.12:g.87674643_87674644insATTTATAAATATATATATATAAAAATATATATATATATATA, NC_000006.12:g.87674643_87674644insATTTATAAATATATATATATATAAATATATATATATATA, NC_000006.12:g.87674643_87674644insATTTATAAATATATATATATATAAATATATATATATATATA, NC_000006.12:g.87674643_87674644insATTTATATATATATATATATATAAATATATATATATATATA, NC_000006.11:g.88384361_88384362insA, NC_000006.11:g.88384361_88384362insATA, NC_000006.11:g.88384361_88384362insATATA, NC_000006.11:g.88384361_88384362insATATATA, NC_000006.11:g.88384361_88384362insATATATATAAATATATATATATATATATATATATATA, NC_000006.11:g.88384361_88384362insATATTTATAAATATATATATATATAAATATATATATATATATA, NC_000006.11:g.88384361_88384362insATTTATAAATATATATATATAAAAATATATATATATATATA, NC_000006.11:g.88384361_88384362insATTTATAAATATATATATATATAAATATATATATATATA, NC_000006.11:g.88384361_88384362insATTTATAAATATATATATATATAAATATATATATATATATA, NC_000006.11:g.88384361_88384362insATTTATATATATATATATATATAAATATATATATATATATA
19.
rs1491100507 has merged into rs60462310 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 6:87673166
(GRCh38)
6:88382884
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87673154:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:87673154:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:87673154:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:87673154:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:87673154:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:87673154:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:87673154:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:87673154:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:87673154:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:87673154:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:87673154:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:87673154:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:87673154:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:87673154:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:87673154:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:87673154:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:87673154:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:87673154:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:87673154:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ORC3 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000006.12:g.87673166_87673178del, NC_000006.12:g.87673167_87673178del, NC_000006.12:g.87673168_87673178del, NC_000006.12:g.87673170_87673178del, NC_000006.12:g.87673171_87673178del, NC_000006.12:g.87673172_87673178del, NC_000006.12:g.87673173_87673178del, NC_000006.12:g.87673174_87673178del, NC_000006.12:g.87673175_87673178del, NC_000006.12:g.87673176_87673178del, NC_000006.12:g.87673177_87673178del, NC_000006.12:g.87673178del, NC_000006.12:g.87673178dup, NC_000006.12:g.87673177_87673178dup, NC_000006.12:g.87673176_87673178dup, NC_000006.12:g.87673175_87673178dup, NC_000006.12:g.87673174_87673178dup, NC_000006.12:g.87673173_87673178dup, NC_000006.12:g.87673178_87673179insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.88382884_88382896del, NC_000006.11:g.88382885_88382896del, NC_000006.11:g.88382886_88382896del, NC_000006.11:g.88382888_88382896del, NC_000006.11:g.88382889_88382896del, NC_000006.11:g.88382890_88382896del, NC_000006.11:g.88382891_88382896del, NC_000006.11:g.88382892_88382896del, NC_000006.11:g.88382893_88382896del, NC_000006.11:g.88382894_88382896del, NC_000006.11:g.88382895_88382896del, NC_000006.11:g.88382896del, NC_000006.11:g.88382896dup, NC_000006.11:g.88382895_88382896dup, NC_000006.11:g.88382894_88382896dup, NC_000006.11:g.88382893_88382896dup, NC_000006.11:g.88382892_88382896dup, NC_000006.11:g.88382891_88382896dup, NC_000006.11:g.88382896_88382897insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
20.
rs1491087030 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 6:87599354
(GRCh38)
6:88309072
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87599352:TAT:T
- Gene:
- ORC3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
-=0.000079/10
(GnomAD)
- HGVS: