Links from Gene
Items: 1 to 20 of 1000
1.
rs1491422335 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 20:32718412
(GRCh38)
20:31306214
(GRCh37)
- Canonical SPDI:
- NC_000020.11:32718411:AG:
- Gene:
- COMMD7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
-=0.000014/2
(GnomAD)
- HGVS:
2.
rs1491369528 has merged into rs200988856 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT
[Show Flanks]
- Chromosome:
- 20:32741405
(GRCh38)
20:31329210
(GRCh37)
- Canonical SPDI:
- NC_000020.11:32741395:TTTTTTTTTTTTT:TTTTTTTTT,NC_000020.11:32741395:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000020.11:32741395:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:32741395:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:32741395:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:32741395:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:32741395:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
- Gene:
- COMMD7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000020.11:g.32741405_32741408del, NC_000020.11:g.32741407_32741408del, NC_000020.11:g.32741408del, NC_000020.11:g.32741408dup, NC_000020.11:g.32741407_32741408dup, NC_000020.11:g.32741406_32741408dup, NC_000020.11:g.32741405_32741408dup, NC_000020.10:g.31329211_31329214del, NC_000020.10:g.31329213_31329214del, NC_000020.10:g.31329214del, NC_000020.10:g.31329214dup, NC_000020.10:g.31329213_31329214dup, NC_000020.10:g.31329212_31329214dup, NC_000020.10:g.31329211_31329214dup
3.
rs1491361346 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 20:32710728
(GRCh38)
20:31298530
(GRCh37)
- Canonical SPDI:
- NC_000020.11:32710727:CA:
- Gene:
- COMMD7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.01399/166
(
ALFA)
-=0.00106/30
(TOMMO)
- HGVS:
4.
rs1491348866 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,ATA,ATATA,ATATATA,ATATATATA,ATATATATATATATATATA
[Show Flanks]
- Chromosome:
- 20:32705377
(GRCh38)
20:31293180
(GRCh37)
- Canonical SPDI:
- NC_000020.11:32705377::A,NC_000020.11:32705377::ATA,NC_000020.11:32705377::ATATA,NC_000020.11:32705377::ATATATA,NC_000020.11:32705377::ATATATATA,NC_000020.11:32705377::ATATATATATATATATATA
- Gene:
- COMMD7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATA=0./0
(
ALFA)
A=0.00472/79
(TOMMO)
- HGVS:
NC_000020.11:g.32705377_32705378insA, NC_000020.11:g.32705377_32705378insATA, NC_000020.11:g.32705377_32705378insATATA, NC_000020.11:g.32705377_32705378insATATATA, NC_000020.11:g.32705377_32705378insATATATATA, NC_000020.11:g.32705377_32705378insATATATATATATATATATA, NC_000020.10:g.31293179_31293180insA, NC_000020.10:g.31293179_31293180insATA, NC_000020.10:g.31293179_31293180insATATA, NC_000020.10:g.31293179_31293180insATATATA, NC_000020.10:g.31293179_31293180insATATATATA, NC_000020.10:g.31293179_31293180insATATATATATATATATATA
5.
rs1491333198 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 20:32735243
(GRCh38)
20:31323051
(GRCh37)
- Canonical SPDI:
- NC_000020.11:32735242:AT:
- Gene:
- COMMD7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00008/1
(
ALFA)
-=0.00011/3
(TOMMO)
-=0.00016/1
(1000Genomes)
-=0.00027/24
(GnomAD)
- HGVS:
6.
rs1491319984 has merged into rs1333666034 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-,GG
[Show Flanks]
- Chromosome:
- 20:32718413
(GRCh38)
20:31306215
(GRCh37)
- Canonical SPDI:
- NC_000020.11:32718412:GGGGGG:GGGGG,NC_000020.11:32718412:GGGGGG:GGGGGGG
- Gene:
- COMMD7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGGGG=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000389/7
(TOMMO)
-=0.000583/80
(GnomAD)
- HGVS:
7.
rs1491292916 has merged into rs60023181 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAAA
[Show Flanks]
- Chromosome:
- 20:32709411
(GRCh38)
20:31297213
(GRCh37)
- Canonical SPDI:
- NC_000020.11:32709399:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:32709399:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:32709399:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:32709399:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:32709399:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:32709399:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:32709399:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:32709399:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
- Gene:
- COMMD7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAAAA=0./0
(
ALFA)
AA=0.3894/1950
(1000Genomes)
- HGVS:
NC_000020.11:g.32709411_32709414del, NC_000020.11:g.32709412_32709414del, NC_000020.11:g.32709413_32709414del, NC_000020.11:g.32709414del, NC_000020.11:g.32709414dup, NC_000020.11:g.32709413_32709414dup, NC_000020.11:g.32709412_32709414dup, NC_000020.11:g.32709409_32709414dup, NC_000020.10:g.31297213_31297216del, NC_000020.10:g.31297214_31297216del, NC_000020.10:g.31297215_31297216del, NC_000020.10:g.31297216del, NC_000020.10:g.31297216dup, NC_000020.10:g.31297215_31297216dup, NC_000020.10:g.31297214_31297216dup, NC_000020.10:g.31297211_31297216dup
8.
rs1491257628 has merged into rs200183828 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTT>-,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 20:32705383
(GRCh38)
20:31293185
(GRCh37)
- Canonical SPDI:
- NC_000020.11:32705376:TTTTTTTTTTT:TTTTTT,NC_000020.11:32705376:TTTTTTTTTTT:TTTTTTTT,NC_000020.11:32705376:TTTTTTTTTTT:TTTTTTTTT,NC_000020.11:32705376:TTTTTTTTTTT:TTTTTTTTTT,NC_000020.11:32705376:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:32705376:TTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:32705376:TTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:32705376:TTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:32705376:TTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:32705376:TTTTTTTTTTT:TTTTTTTTTTTTTTTTT
- Gene:
- COMMD7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTT=0./0
(
ALFA)
-=0.4547/271
(NorthernSweden)
- HGVS:
NC_000020.11:g.32705383_32705387del, NC_000020.11:g.32705385_32705387del, NC_000020.11:g.32705386_32705387del, NC_000020.11:g.32705387del, NC_000020.11:g.32705387dup, NC_000020.11:g.32705386_32705387dup, NC_000020.11:g.32705385_32705387dup, NC_000020.11:g.32705384_32705387dup, NC_000020.11:g.32705383_32705387dup, NC_000020.11:g.32705382_32705387dup, NC_000020.10:g.31293185_31293189del, NC_000020.10:g.31293187_31293189del, NC_000020.10:g.31293188_31293189del, NC_000020.10:g.31293189del, NC_000020.10:g.31293189dup, NC_000020.10:g.31293188_31293189dup, NC_000020.10:g.31293187_31293189dup, NC_000020.10:g.31293186_31293189dup, NC_000020.10:g.31293185_31293189dup, NC_000020.10:g.31293184_31293189dup
9.
rs1491255967 has merged into rs34360055 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAA
[Show Flanks]
- Chromosome:
- 20:32741166
(GRCh38)
20:31328972
(GRCh37)
- Canonical SPDI:
- NC_000020.11:32741158:AAAAAAAAA:AAAAAAA,NC_000020.11:32741158:AAAAAAAAA:AAAAAAAA,NC_000020.11:32741158:AAAAAAAAA:AAAAAAAAAA,NC_000020.11:32741158:AAAAAAAAA:AAAAAAAAAAA
- Gene:
- COMMD7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAA=0.09215/871
(
ALFA)
A=0.296233/173
(NorthernSweden)
-=0.42107/111453
(TOPMED)
A=0.4375/2191
(1000Genomes)
- HGVS:
10.
rs1491229701 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CT
[Show Flanks]
- Chromosome:
- 20:32741396
(GRCh38)
20:31329203
(GRCh37)
- Canonical SPDI:
- NC_000020.11:32741396:T:TCT
- Gene:
- COMMD7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TCT=0./0
(
ALFA)
TC=0.00008/1
(GnomAD)
- HGVS:
13.
rs1491178048 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CAA,CAAACAA
[Show Flanks]
- Chromosome:
- 20:32741159
(GRCh38)
20:31328958
(GRCh37)
- Canonical SPDI:
- NC_000020.11:32741159:AA:AACAA,NC_000020.11:32741159:AA:AACAAACAA
- Gene:
- COMMD7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AACAAACAA=0./0
(
ALFA)
AAC=0.00465/209
(GnomAD)
- HGVS:
14.
rs1491036860 has merged into rs373468047 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-,AA,AAA
[Show Flanks]
- Chromosome:
- 20:32723045
(GRCh38)
20:-1
(GRCh37)
- Canonical SPDI:
- NC_000020.11:32723044:AAA:AA,NC_000020.11:32723044:AAA:AAAA,NC_000020.11:32723044:AAA:AAAAA
- Gene:
- COMMD7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0.00048/6
(
ALFA)
AA=0.00269/3
(Korea1K)
-=0.01667/10
(NorthernSweden)
- HGVS:
15.
rs1491017115 has merged into rs34447587 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAA>-,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 20:32712618
(GRCh38)
20:31300420
(GRCh37)
- Canonical SPDI:
- NC_000020.11:32712612:AAAAAAAAAAAAAA:AAAAA,NC_000020.11:32712612:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:32712612:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:32712612:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:32712612:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:32712612:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:32712612:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:32712612:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:32712612:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:32712612:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
- Gene:
- COMMD7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
A=0.257188/1288
(1000Genomes)
- HGVS:
NC_000020.11:g.32712618_32712626del, NC_000020.11:g.32712625_32712626del, NC_000020.11:g.32712626del, NC_000020.11:g.32712626dup, NC_000020.11:g.32712625_32712626dup, NC_000020.11:g.32712624_32712626dup, NC_000020.11:g.32712623_32712626dup, NC_000020.11:g.32712622_32712626dup, NC_000020.11:g.32712621_32712626dup, NC_000020.11:g.32712620_32712626dup, NC_000020.10:g.31300420_31300428del, NC_000020.10:g.31300427_31300428del, NC_000020.10:g.31300428del, NC_000020.10:g.31300428dup, NC_000020.10:g.31300427_31300428dup, NC_000020.10:g.31300426_31300428dup, NC_000020.10:g.31300425_31300428dup, NC_000020.10:g.31300424_31300428dup, NC_000020.10:g.31300423_31300428dup, NC_000020.10:g.31300422_31300428dup
16.
rs1491006359 has merged into rs386393633 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 20:32702423
(GRCh38)
20:31290225
(GRCh37)
- Canonical SPDI:
- NC_000020.11:32702409:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:32702409:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:32702409:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:32702409:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:32702409:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:32702409:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:32702409:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:32702409:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:32702409:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:32702409:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:32702409:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:32702409:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- COMMD7 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000020.11:g.32702423_32702427del, NC_000020.11:g.32702424_32702427del, NC_000020.11:g.32702425_32702427del, NC_000020.11:g.32702426_32702427del, NC_000020.11:g.32702427del, NC_000020.11:g.32702427dup, NC_000020.11:g.32702426_32702427dup, NC_000020.11:g.32702425_32702427dup, NC_000020.11:g.32702424_32702427dup, NC_000020.11:g.32702423_32702427dup, NC_000020.11:g.32702421_32702427dup, NC_000020.11:g.32702416_32702427dup, NC_000020.10:g.31290225_31290229del, NC_000020.10:g.31290226_31290229del, NC_000020.10:g.31290227_31290229del, NC_000020.10:g.31290228_31290229del, NC_000020.10:g.31290229del, NC_000020.10:g.31290229dup, NC_000020.10:g.31290228_31290229dup, NC_000020.10:g.31290227_31290229dup, NC_000020.10:g.31290226_31290229dup, NC_000020.10:g.31290225_31290229dup, NC_000020.10:g.31290223_31290229dup, NC_000020.10:g.31290218_31290229dup
17.
rs1490972094 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 20:32740047
(GRCh38)
20:31327854
(GRCh37)
- Canonical SPDI:
- NC_000020.11:32740046:G:A
- Gene:
- COMMD7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/1
(GnomAD)
- HGVS:
18.
rs1490934487 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 20:32745364
(GRCh38)
20:31333170
(GRCh37)
- Canonical SPDI:
- NC_000020.11:32745363:G:T
- Gene:
- COMMD7 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00304/86
(TOMMO)
T=0.00656/12
(Korea1K)
T=0.0775/226
(KOREAN)
- HGVS:
19.
rs1490883627 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 20:32703815
(GRCh38)
20:31291617
(GRCh37)
- Canonical SPDI:
- NC_000020.11:32703814:G:A
- Gene:
- COMMD7 (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
NC_000020.11:g.32703815G>A, NC_000020.10:g.31291617G>A, XM_005260299.5:c.*5C>T, XM_005260299.4:c.*5C>T, XM_005260299.3:c.*5C>T, XM_005260299.2:c.*5C>T, XM_005260299.1:c.*5C>T, XM_005260300.5:c.*5C>T, XM_005260300.4:c.*5C>T, XM_005260300.3:c.*5C>T, XM_005260300.2:c.*5C>T, XM_005260300.1:c.*5C>T, XM_011528604.4:c.*61C>T, XM_011528604.3:c.*61C>T, XM_011528604.2:c.*61C>T, XM_011528604.1:c.*61C>T, XM_017027685.3:c.*61C>T, XM_017027685.2:c.*61C>T, XM_017027685.1:c.*61C>T
20.
rs1490768527 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 20:32717880
(GRCh38)
20:31305682
(GRCh37)
- Canonical SPDI:
- NC_000020.11:32717879:T:C,NC_000020.11:32717879:T:G
- Gene:
- COMMD7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
G=0.005479/16
(KOREAN)
- HGVS: