Links from Gene
Items: 1 to 20 of 41703
1.
rs1491582288 has merged into rs140610634 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTT,TTTTTTTGTTTTTTTTTTTTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTGGTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 11:32745757
(GRCh38)
11:32767303
(GRCh37)
- Canonical SPDI:
- NC_000011.10:32745745:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:32745745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:32745745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:32745745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:32745745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:32745745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:32745745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:32745745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:32745745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTT,NC_000011.10:32745745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:32745745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:32745745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:32745745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:32745745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTTTTTTTTTTTT,NC_000011.10:32745745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:32745745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTT,NC_000011.10:32745745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT,NC_000011.10:32745745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:32745745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:32745745:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT
- Gene:
- CCDC73 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
T=0.1076/539
(1000Genomes)
- HGVS:
NC_000011.10:g.32745757_32745761del, NC_000011.10:g.32745758_32745761del, NC_000011.10:g.32745759_32745761del, NC_000011.10:g.32745760_32745761del, NC_000011.10:g.32745761del, NC_000011.10:g.32745761dup, NC_000011.10:g.32745746_32745761T[17]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.10:g.32745760_32745761dup, NC_000011.10:g.32745746_32745761T[18]GTTTTTTTTTTTTTTTTT[1], NC_000011.10:g.32745759_32745761dup, NC_000011.10:g.32745758_32745761dup, NC_000011.10:g.32745749_32745761dup, NC_000011.10:g.32745748_32745761dup, NC_000011.10:g.32745746_32745761T[30]GGTTTTTTTTTTTTTTTTT[1], NC_000011.10:g.32745747_32745761dup, NC_000011.10:g.32745746_32745761T[31]GTTTTTTTTTTTTTTTTT[1], NC_000011.10:g.32745746_32745761T[31]GTTTTTTTTTTTTTTTTTT[1], NC_000011.10:g.32745746_32745761T[31]GTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.10:g.32745746_32745761dup, NC_000011.10:g.32745746_32745761T[32]GTTTTTTTTTTTTTTTTTT[1], NC_000011.9:g.32767303_32767307del, NC_000011.9:g.32767304_32767307del, NC_000011.9:g.32767305_32767307del, NC_000011.9:g.32767306_32767307del, NC_000011.9:g.32767307del, NC_000011.9:g.32767307dup, NC_000011.9:g.32767292_32767307T[17]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.9:g.32767306_32767307dup, NC_000011.9:g.32767292_32767307T[18]GTTTTTTTTTTTTTTTTT[1], NC_000011.9:g.32767305_32767307dup, NC_000011.9:g.32767304_32767307dup, NC_000011.9:g.32767295_32767307dup, NC_000011.9:g.32767294_32767307dup, NC_000011.9:g.32767292_32767307T[30]GGTTTTTTTTTTTTTTTTT[1], NC_000011.9:g.32767293_32767307dup, NC_000011.9:g.32767292_32767307T[31]GTTTTTTTTTTTTTTTTT[1], NC_000011.9:g.32767292_32767307T[31]GTTTTTTTTTTTTTTTTTT[1], NC_000011.9:g.32767292_32767307T[31]GTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.9:g.32767292_32767307dup, NC_000011.9:g.32767292_32767307T[32]GTTTTTTTTTTTTTTTTTT[1]
2.
rs1491570993 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 11:32660230
(GRCh38)
11:32681777
(GRCh37)
- Canonical SPDI:
- NC_000011.10:32660230::G
- Gene:
- CCDC73 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
3.
rs1491568245 has merged into rs1476063804 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-,ATAT
[Show Flanks]
- Chromosome:
- 11:32755877
(GRCh38)
11:32777423
(GRCh37)
- Canonical SPDI:
- NC_000011.10:32755868:ATATATATAT:ATATATAT,NC_000011.10:32755868:ATATATATAT:ATATATATATAT
- Gene:
- CCDC73 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATATAT=0./0
(
ALFA)
-=0.000072/2
(TOMMO)
-=0.000352/38
(GnomAD)
- HGVS:
5.
rs1491544340 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-,ATAT,ATATATAT
[Show Flanks]
- Chromosome:
- 11:32755925
(GRCh38)
11:32777471
(GRCh37)
- Canonical SPDI:
- NC_000011.10:32755916:ATATATATAT:ATATATAT,NC_000011.10:32755916:ATATATATAT:ATATATATATAT,NC_000011.10:32755916:ATATATATAT:ATATATATATATATAT
- Gene:
- CCDC73 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
ATATATATATAT=0./0
(
ALFA)
-=0.00026/11
(GnomAD)
- HGVS:
7.
rs1491529363 has merged into rs1192587784 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-,GTGT
[Show Flanks]
- Chromosome:
- 11:32776989
(GRCh38)
11:32798535
(GRCh37)
- Canonical SPDI:
- NC_000011.10:32776987:TGT:T,NC_000011.10:32776987:TGT:TGTGT
- Gene:
- CCDC73 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGT=0./0
(
ALFA)
-=0.00228/4
(Korea1K)
-=0.00288/48
(TOMMO)
- HGVS:
8.
rs1491519374 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GTTTT
[Show Flanks]
- Chromosome:
- 11:32745746
(GRCh38)
11:32767293
(GRCh37)
- Canonical SPDI:
- NC_000011.10:32745746:TTTT:TTTTGTTTT
- Gene:
- CCDC73 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
TTTTG=0.0012/7
(GnomAD)
- HGVS:
12.
rs1491493212 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 11:32755536
(GRCh38)
11:32777082
(GRCh37)
- Canonical SPDI:
- NC_000011.10:32755533:AAAA:AA
- Gene:
- CCDC73 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAA=0.00008/1
(
ALFA)
-=0.00022/11
(GnomAD)
-=0.00047/3
(1000Genomes)
- HGVS:
13.
rs1491479552 has merged into rs71463373 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA
[Show Flanks]
- Chromosome:
- 11:32795477
(GRCh38)
11:32817023
(GRCh37)
- Canonical SPDI:
- NC_000011.10:32795468:AAAAAAAAAAA:AAAAAAAA,NC_000011.10:32795468:AAAAAAAAAAA:AAAAAAAAA,NC_000011.10:32795468:AAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:32795468:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:32795468:AAAAAAAAAAA:AAAAAAAAAAAAA
- Gene:
- CCDC73 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
A=0.00337/2
(NorthernSweden)
- HGVS:
14.
rs1491472628 has merged into rs61055031 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACACACA>-,CACA,CACACA,CACACACA,CACACACACA,CACACACACACACA,CACACACACACACACA
[Show Flanks]
- Chromosome:
- 11:32776962
(GRCh38)
11:32798508
(GRCh37)
- Canonical SPDI:
- NC_000011.10:32776960:ACACACACACACA:A,NC_000011.10:32776960:ACACACACACACA:ACACA,NC_000011.10:32776960:ACACACACACACA:ACACACA,NC_000011.10:32776960:ACACACACACACA:ACACACACA,NC_000011.10:32776960:ACACACACACACA:ACACACACACA,NC_000011.10:32776960:ACACACACACACA:ACACACACACACACA,NC_000011.10:32776960:ACACACACACACA:ACACACACACACACACA
- Gene:
- CCDC73 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACA=0./0
(
ALFA)
AC=0.03627/14
(NorthernSweden)
- HGVS:
NC_000011.10:g.32776962_32776973del, NC_000011.10:g.32776962CA[2], NC_000011.10:g.32776962CA[3], NC_000011.10:g.32776962CA[4], NC_000011.10:g.32776962CA[5], NC_000011.10:g.32776962CA[7], NC_000011.10:g.32776962CA[8], NC_000011.9:g.32798508_32798519del, NC_000011.9:g.32798508CA[2], NC_000011.9:g.32798508CA[3], NC_000011.9:g.32798508CA[4], NC_000011.9:g.32798508CA[5], NC_000011.9:g.32798508CA[7], NC_000011.9:g.32798508CA[8]
15.
rs1491463409 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 11:32620610
(GRCh38)
11:32642156
(GRCh37)
- Canonical SPDI:
- NC_000011.10:32620609:CA:
- Gene:
- CCDC73 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00005/1
(GnomAD)
- HGVS:
17.
rs1491455159 has merged into rs200475969 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAA,AAAAA,AAAAAAA
[Show Flanks]
- Chromosome:
- 11:32699879
(GRCh38)
11:32721425
(GRCh37)
- Canonical SPDI:
- NC_000011.10:32699874:AAAAAA:AAAA,NC_000011.10:32699874:AAAAAA:AAAAA,NC_000011.10:32699874:AAAAAA:AAAAAAA,NC_000011.10:32699874:AAAAAA:AAAAAAAA,NC_000011.10:32699874:AAAAAA:AAAAAAAAA,NC_000011.10:32699874:AAAAAA:AAAAAAAAAAA
- Gene:
- CCDC73 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000011.10:g.32699879_32699880del, NC_000011.10:g.32699880del, NC_000011.10:g.32699880dup, NC_000011.10:g.32699879_32699880dup, NC_000011.10:g.32699878_32699880dup, NC_000011.10:g.32699876_32699880dup, NC_000011.9:g.32721425_32721426del, NC_000011.9:g.32721426del, NC_000011.9:g.32721426dup, NC_000011.9:g.32721425_32721426dup, NC_000011.9:g.32721424_32721426dup, NC_000011.9:g.32721422_32721426dup
18.
rs1491453472 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 11:32755665
(GRCh38)
11:32777211
(GRCh37)
- Canonical SPDI:
- NC_000011.10:32755658:ATATATAT:ATATAT
- Gene:
- CCDC73 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
ATATAT=0./0
(
ALFA)
-=0.00002/1
(GnomAD)
- HGVS:
19.
rs1491446374 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 11:32674778
(GRCh38)
11:32696324
(GRCh37)
- Canonical SPDI:
- NC_000011.10:32674775:ATAT:AT
- Gene:
- CCDC73 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATAT=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
20.
rs1491442271 has merged into rs11310092 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 11:32660240
(GRCh38)
11:32681786
(GRCh37)
- Canonical SPDI:
- NC_000011.10:32660229:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:32660229:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:32660229:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:32660229:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:32660229:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:32660229:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:32660229:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:32660229:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:32660229:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:32660229:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:32660229:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:32660229:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:32660229:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:32660229:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:32660229:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:32660229:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:32660229:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:32660229:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:32660229:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:32660229:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:32660229:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:32660229:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:32660229:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:32660229:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- CCDC73 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
-=0.0217/13
(NorthernSweden)
- HGVS:
NC_000011.10:g.32660240_32660255del, NC_000011.10:g.32660241_32660255del, NC_000011.10:g.32660242_32660255del, NC_000011.10:g.32660243_32660255del, NC_000011.10:g.32660244_32660255del, NC_000011.10:g.32660245_32660255del, NC_000011.10:g.32660246_32660255del, NC_000011.10:g.32660247_32660255del, NC_000011.10:g.32660248_32660255del, NC_000011.10:g.32660249_32660255del, NC_000011.10:g.32660250_32660255del, NC_000011.10:g.32660251_32660255del, NC_000011.10:g.32660252_32660255del, NC_000011.10:g.32660253_32660255del, NC_000011.10:g.32660254_32660255del, NC_000011.10:g.32660255del, NC_000011.10:g.32660255dup, NC_000011.10:g.32660254_32660255dup, NC_000011.10:g.32660253_32660255dup, NC_000011.10:g.32660252_32660255dup, NC_000011.10:g.32660251_32660255dup, NC_000011.10:g.32660250_32660255dup, NC_000011.10:g.32660249_32660255dup, NC_000011.10:g.32660248_32660255dup, NC_000011.9:g.32681786_32681801del, NC_000011.9:g.32681787_32681801del, NC_000011.9:g.32681788_32681801del, NC_000011.9:g.32681789_32681801del, NC_000011.9:g.32681790_32681801del, NC_000011.9:g.32681791_32681801del, NC_000011.9:g.32681792_32681801del, NC_000011.9:g.32681793_32681801del, NC_000011.9:g.32681794_32681801del, NC_000011.9:g.32681795_32681801del, NC_000011.9:g.32681796_32681801del, NC_000011.9:g.32681797_32681801del, NC_000011.9:g.32681798_32681801del, NC_000011.9:g.32681799_32681801del, NC_000011.9:g.32681800_32681801del, NC_000011.9:g.32681801del, NC_000011.9:g.32681801dup, NC_000011.9:g.32681800_32681801dup, NC_000011.9:g.32681799_32681801dup, NC_000011.9:g.32681798_32681801dup, NC_000011.9:g.32681797_32681801dup, NC_000011.9:g.32681796_32681801dup, NC_000011.9:g.32681795_32681801dup, NC_000011.9:g.32681794_32681801dup