Links from Gene
Items: 1 to 20 of 1000
1.
rs1491543891 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 4:109694769
(GRCh38)
4:110615925
(GRCh37)
- Canonical SPDI:
- NC_000004.12:109694768:GT:
- Gene:
- CASP6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
2.
rs1491443021 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TT
[Show Flanks]
- Chromosome:
- 4:109694769
(GRCh38)
4:110615926
(GRCh37)
- Canonical SPDI:
- NC_000004.12:109694769:TTT:TTTTT
- Gene:
- CASP6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTT=0./0
(
ALFA)
TT=0.000015/4
(TOPMED)
TT=0.000043/6
(GnomAD)
TT=0.000546/1
(Korea1K)
- HGVS:
3.
rs1491163786 has merged into rs757024540 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 4:109696794
(GRCh38)
4:110617950
(GRCh37)
- Canonical SPDI:
- NC_000004.12:109696781:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:109696781:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:109696781:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:109696781:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:109696781:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:109696781:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:109696781:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:109696781:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:109696781:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:109696781:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:109696781:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:109696781:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:109696781:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:109696781:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:109696781:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- CASP6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000004.12:g.109696794_109696803del, NC_000004.12:g.109696795_109696803del, NC_000004.12:g.109696796_109696803del, NC_000004.12:g.109696797_109696803del, NC_000004.12:g.109696798_109696803del, NC_000004.12:g.109696800_109696803del, NC_000004.12:g.109696801_109696803del, NC_000004.12:g.109696802_109696803del, NC_000004.12:g.109696803del, NC_000004.12:g.109696803dup, NC_000004.12:g.109696802_109696803dup, NC_000004.12:g.109696801_109696803dup, NC_000004.12:g.109696800_109696803dup, NC_000004.12:g.109696799_109696803dup, NC_000004.12:g.109696793_109696803dup, NC_000004.11:g.110617950_110617959del, NC_000004.11:g.110617951_110617959del, NC_000004.11:g.110617952_110617959del, NC_000004.11:g.110617953_110617959del, NC_000004.11:g.110617954_110617959del, NC_000004.11:g.110617956_110617959del, NC_000004.11:g.110617957_110617959del, NC_000004.11:g.110617958_110617959del, NC_000004.11:g.110617959del, NC_000004.11:g.110617959dup, NC_000004.11:g.110617958_110617959dup, NC_000004.11:g.110617957_110617959dup, NC_000004.11:g.110617956_110617959dup, NC_000004.11:g.110617955_110617959dup, NC_000004.11:g.110617949_110617959dup, NG_029187.1:g.11683_11692del, NG_029187.1:g.11684_11692del, NG_029187.1:g.11685_11692del, NG_029187.1:g.11686_11692del, NG_029187.1:g.11687_11692del, NG_029187.1:g.11689_11692del, NG_029187.1:g.11690_11692del, NG_029187.1:g.11691_11692del, NG_029187.1:g.11692del, NG_029187.1:g.11692dup, NG_029187.1:g.11691_11692dup, NG_029187.1:g.11690_11692dup, NG_029187.1:g.11689_11692dup, NG_029187.1:g.11688_11692dup, NG_029187.1:g.11682_11692dup
4.
rs1491053182 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GC>-
[Show Flanks]
- Chromosome:
- 4:109690250
(GRCh38)
4:110611406
(GRCh37)
- Canonical SPDI:
- NC_000004.12:109690248:CGC:C
- Gene:
- CASP6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.00008/1
(
ALFA)
-=0.00016/1
(1000Genomes)
-=0.00022/3
(GnomAD)
- HGVS:
5.
rs1491023841 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 4:109704457
(GRCh38)
4:110625613
(GRCh37)
- Canonical SPDI:
- NC_000004.12:109704455:ACA:A
- Gene:
- CASP6 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency
- MAF:
-=0.000007/1
(GnomAD)
- HGVS:
6.
rs1490695514 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 4:109698664
(GRCh38)
4:110619820
(GRCh37)
- Canonical SPDI:
- NC_000004.12:109698663:G:T
- Gene:
- CASP6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
7.
rs1490623861 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:109704130
(GRCh38)
4:110625286
(GRCh37)
- Canonical SPDI:
- NC_000004.12:109704129:G:A
- Gene:
- CASP6 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
8.
rs1490597974 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 4:109703443
(GRCh38)
4:110624600
(GRCh37)
- Canonical SPDI:
- NC_000004.12:109703443:A:AA
- Gene:
- CASP6 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
9.
rs1490576227 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 4:109695370
(GRCh38)
4:110616526
(GRCh37)
- Canonical SPDI:
- NC_000004.12:109695369:C:A
- Gene:
- CASP6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000026/7
(TOPMED)
- HGVS:
10.
rs1490525891 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:109697380
(GRCh38)
4:110618536
(GRCh37)
- Canonical SPDI:
- NC_000004.12:109697379:T:C
- Gene:
- CASP6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
11.
rs1490502055 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:109696904
(GRCh38)
4:110618060
(GRCh37)
- Canonical SPDI:
- NC_000004.12:109696903:G:A
- Gene:
- CASP6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000015/4
(TOPMED)
- HGVS:
12.
rs1490475857 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:109695856
(GRCh38)
4:110617012
(GRCh37)
- Canonical SPDI:
- NC_000004.12:109695855:T:C
- Gene:
- CASP6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
13.
rs1490204918 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TTGTGAGAC
[Show Flanks]
- Chromosome:
- 4:109699990
(GRCh38)
4:110621147
(GRCh37)
- Canonical SPDI:
- NC_000004.12:109699990:C:CTTGTGAGAC
- Gene:
- CASP6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTTGTGAGAC=0.000071/1
(
ALFA)
CTTGTGAGA=0.000004/1
(TOPMED)
CTTGTGAGA=0.000007/1
(GnomAD)
- HGVS:
14.
rs1490085033 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:109688993
(GRCh38)
4:110610149
(GRCh37)
- Canonical SPDI:
- NC_000004.12:109688992:T:C
- Gene:
- CASP6 (Varview), MCUB (Varview)
- Functional Consequence:
- non_coding_transcript_variant,downstream_transcript_variant,intron_variant,500B_downstream_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
15.
rs1489762887 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 4:109689377
(GRCh38)
4:110610533
(GRCh37)
- Canonical SPDI:
- NC_000004.12:109689376:C:G
- Gene:
- CASP6 (Varview)
- Functional Consequence:
- intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000004.12:g.109689377C>G, NC_000004.11:g.110610533C>G, NG_029187.1:g.19097G>C, NM_001226.4:c.835G>C, NM_001226.3:c.835G>C, NM_032992.3:c.568G>C, NM_032992.2:c.568G>C, NR_133012.2:n.808G>C, NR_133012.1:n.836G>C, XM_047416244.1:c.811G>C, NP_001217.2:p.Ala279Pro, NP_116787.1:p.Ala190Pro, XP_047272200.1:p.Ala271Pro
16.
rs1489710736 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 4:109691770
(GRCh38)
4:110612927
(GRCh37)
- Canonical SPDI:
- NC_000004.12:109691770:T:TT
- Gene:
- CASP6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
17.
rs1489697770 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:109694678
(GRCh38)
4:110615834
(GRCh37)
- Canonical SPDI:
- NC_000004.12:109694677:A:G
- Gene:
- CASP6 (Varview)
- Functional Consequence:
- synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
NC_000004.12:g.109694678A>G, NC_000004.11:g.110615834A>G, NG_029187.1:g.13796T>C, NM_001226.4:c.330T>C, NM_001226.3:c.330T>C, NM_032992.3:c.63T>C, NM_032992.2:c.63T>C, NR_133012.2:n.303T>C, NR_133012.1:n.331T>C, XM_047416245.1:c.330T>C, XM_047416244.1:c.306T>C
18.
rs1489494610 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 4:109688689
(GRCh38)
4:110609845
(GRCh37)
- Canonical SPDI:
- NC_000004.12:109688688:C:
- Gene:
- CASP6 (Varview), MCUB (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000036/5
(GnomAD)
-=0.000094/25
(TOPMED)
- HGVS:
NC_000004.12:g.109688689del, NC_000004.11:g.110609845del, NG_029187.1:g.19785del, NM_001226.4:c.*641del, NM_001226.3:c.*641del, NM_032992.3:c.*641del, NM_032992.2:c.*641del, NR_133012.2:n.1496del, NR_133012.1:n.1524del, NM_017918.5:c.*1097del, XM_006714246.4:c.*1097del, XM_006714246.3:c.*1097del, XM_047416244.1:c.*641del
19.
rs1489451316 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:109701441
(GRCh38)
4:110622597
(GRCh37)
- Canonical SPDI:
- NC_000004.12:109701440:T:C
- Gene:
- CASP6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
20.
rs1489406760 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:109690986
(GRCh38)
4:110612142
(GRCh37)
- Canonical SPDI:
- NC_000004.12:109690985:A:G
- Gene:
- CASP6 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS: