Links from Gene
Items: 1 to 20 of 1000
1.
rs1491505899 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TTTATAAAATGCATTTGTCCAGTG
[Show Flanks]
- Chromosome:
- 3:179586725
(GRCh38)
3:179304514
(GRCh37)
- Canonical SPDI:
- NC_000003.12:179586725:GTG:GTGTTTATAAAATGCATTTGTCCAGTG
- Gene:
- ACTL6A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GTGTTTATAAAATGCATTTGTCCAGTG=0./0
(
ALFA)
GTGTTTATAAAATGCATTTGTCCA=0.000019/5
(TOPMED)
- HGVS:
2.
rs1491410086 has merged into rs71907893 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT
[Show Flanks]
- Chromosome:
- 3:179573529
(GRCh38)
3:179291317
(GRCh37)
- Canonical SPDI:
- NC_000003.12:179573520:TTTTTTTTTT:TTTTTTTT,NC_000003.12:179573520:TTTTTTTTTT:TTTTTTTTT,NC_000003.12:179573520:TTTTTTTTTT:TTTTTTTTTTT
- Gene:
- ACTL6A (Varview), LOC124909462 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
T=0.03815/639
(TOMMO)
T=0.1887/945
(1000Genomes)
T=0.28168/3521
(GoESP)
T=0.35/14
(GENOME_DK)
T=0.35571/355
(GoNL)
T=0.43581/258
(NorthernSweden)
- HGVS:
3.
rs1491409372 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 3:179580637
(GRCh38)
3:179298425
(GRCh37)
- Canonical SPDI:
- NC_000003.12:179580634:CACA:CA
- Gene:
- ACTL6A (Varview)
- Functional Consequence:
- intron_variant,splice_acceptor_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACA=0.000071/1
(
ALFA)
-=0.00001/1
(ExAC)
-=0.000013/3
(GnomAD_exomes)
-=0.000014/2
(GnomAD)
-=0.000019/5
(TOPMED)
- HGVS:
4.
rs1491177421 has merged into rs138102554 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT
[Show Flanks]
- Chromosome:
- 3:179580807
(GRCh38)
3:179298595
(GRCh37)
- Canonical SPDI:
- NC_000003.12:179580796:TTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:179580796:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:179580796:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:179580796:TTTTTTTTTTTT:TTTTTTTTTTTTTT
- Gene:
- ACTL6A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
-=0.105739/27988
(TOPMED)
-=0.125/5
(GENOME_DK)
- HGVS:
5.
rs1491087636 has merged into rs10650822 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACACACACACACACA>-,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
[Show Flanks]
- Chromosome:
- 3:179579471
(GRCh38)
3:179297259
(GRCh37)
- Canonical SPDI:
- NC_000003.12:179579455:ACACACACACACACACACACACACACACACACACA:ACACACACACACACA,NC_000003.12:179579455:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000003.12:179579455:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000003.12:179579455:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000003.12:179579455:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000003.12:179579455:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000003.12:179579455:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000003.12:179579455:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000003.12:179579455:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000003.12:179579455:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000003.12:179579455:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000003.12:179579455:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:179579455:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:179579455:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:179579455:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:179579455:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:179579455:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:179579455:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:179579455:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:179579455:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:179579455:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:179579455:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:179579455:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:179579455:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:179579455:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:179579455:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:179579455:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:179579455:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
- Gene:
- ACTL6A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACACACA=0./0
(
ALFA)
- HGVS:
NC_000003.12:g.179579457CA[7], NC_000003.12:g.179579457CA[9], NC_000003.12:g.179579457CA[10], NC_000003.12:g.179579457CA[11], NC_000003.12:g.179579457CA[12], NC_000003.12:g.179579457CA[13], NC_000003.12:g.179579457CA[14], NC_000003.12:g.179579457CA[15], NC_000003.12:g.179579457CA[16], NC_000003.12:g.179579457CA[18], NC_000003.12:g.179579457CA[19], NC_000003.12:g.179579457CA[20], NC_000003.12:g.179579457CA[21], NC_000003.12:g.179579457CA[22], NC_000003.12:g.179579457CA[23], NC_000003.12:g.179579457CA[24], NC_000003.12:g.179579457CA[25], NC_000003.12:g.179579457CA[26], NC_000003.12:g.179579457CA[27], NC_000003.12:g.179579457CA[28], NC_000003.12:g.179579457CA[29], NC_000003.12:g.179579457CA[30], NC_000003.12:g.179579457CA[31], NC_000003.12:g.179579457CA[32], NC_000003.12:g.179579457CA[33], NC_000003.12:g.179579457CA[34], NC_000003.12:g.179579457CA[35], NC_000003.12:g.179579457CA[36], NC_000003.11:g.179297245CA[7], NC_000003.11:g.179297245CA[9], NC_000003.11:g.179297245CA[10], NC_000003.11:g.179297245CA[11], NC_000003.11:g.179297245CA[12], NC_000003.11:g.179297245CA[13], NC_000003.11:g.179297245CA[14], NC_000003.11:g.179297245CA[15], NC_000003.11:g.179297245CA[16], NC_000003.11:g.179297245CA[18], NC_000003.11:g.179297245CA[19], NC_000003.11:g.179297245CA[20], NC_000003.11:g.179297245CA[21], NC_000003.11:g.179297245CA[22], NC_000003.11:g.179297245CA[23], NC_000003.11:g.179297245CA[24], NC_000003.11:g.179297245CA[25], NC_000003.11:g.179297245CA[26], NC_000003.11:g.179297245CA[27], NC_000003.11:g.179297245CA[28], NC_000003.11:g.179297245CA[29], NC_000003.11:g.179297245CA[30], NC_000003.11:g.179297245CA[31], NC_000003.11:g.179297245CA[32], NC_000003.11:g.179297245CA[33], NC_000003.11:g.179297245CA[34], NC_000003.11:g.179297245CA[35], NC_000003.11:g.179297245CA[36]
6.
rs1490909972 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 3:179566050
(GRCh38)
3:179283838
(GRCh37)
- Canonical SPDI:
- NC_000003.12:179566049:T:A
- Gene:
- ACTL6A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
7.
rs1490872101 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:179582089
(GRCh38)
3:179299877
(GRCh37)
- Canonical SPDI:
- NC_000003.12:179582088:T:C
- Gene:
- ACTL6A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
8.
rs1490836778 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:179573654
(GRCh38)
3:179291442
(GRCh37)
- Canonical SPDI:
- NC_000003.12:179573653:A:G
- Gene:
- ACTL6A (Varview), LOC124909462 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
9.
rs1490781161 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ATTTATTTAT
[Show Flanks]
- Chromosome:
- 3:179575009
(GRCh38)
3:179292798
(GRCh37)
- Canonical SPDI:
- NC_000003.12:179575009:TATTTATTTAT:TATTTATTTATATTTATTTAT
- Gene:
- ACTL6A (Varview), LOC124909462 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATTTATTTATATTTATTTAT=0./0
(
ALFA)
TATTTATTTA=0.000007/1
(GnomAD)
TATTTATTTA=0.000011/3
(TOPMED)
- HGVS:
10.
rs1490721214 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 3:179585276
(GRCh38)
3:179303064
(GRCh37)
- Canonical SPDI:
- NC_000003.12:179585275:A:G,NC_000003.12:179585275:A:T
- Gene:
- ACTL6A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
11.
rs1490603681 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 3:179570539
(GRCh38)
3:179288327
(GRCh37)
- Canonical SPDI:
- NC_000003.12:179570538:T:
- Gene:
- ACTL6A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000014/2
(GnomAD)
-=0.000026/7
(TOPMED)
- HGVS:
12.
rs1490345589 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 3:179565833
(GRCh38)
3:179283621
(GRCh37)
- Canonical SPDI:
- NC_000003.12:179565832:T:G
- Gene:
- ACTL6A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000043/6
(GnomAD)
G=0.000045/12
(TOPMED)
- HGVS:
13.
rs1490241698 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:179562133
(GRCh38)
3:179279921
(GRCh37)
- Canonical SPDI:
- NC_000003.12:179562132:C:T
- Gene:
- ACTL6A (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000015/4
(TOPMED)
T=0.000035/1
(TOMMO)
T=0.000546/1
(Korea1K)
- HGVS:
14.
rs1489928478 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:179579926
(GRCh38)
3:179297714
(GRCh37)
- Canonical SPDI:
- NC_000003.12:179579925:C:T
- Gene:
- ACTL6A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
15.
rs1489899447 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 3:179586834
(GRCh38)
3:179304622
(GRCh37)
- Canonical SPDI:
- NC_000003.12:179586833:A:C,NC_000003.12:179586833:A:G
- Gene:
- ACTL6A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
16.
rs1489650984 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 3:179585413
(GRCh38)
3:179303201
(GRCh37)
- Canonical SPDI:
- NC_000003.12:179585412:G:T
- Gene:
- ACTL6A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
17.
rs1489619375 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 3:179564472
(GRCh38)
3:179282260
(GRCh37)
- Canonical SPDI:
- NC_000003.12:179564471:G:A,NC_000003.12:179564471:G:C
- Gene:
- ACTL6A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000142/2
(
ALFA)
A=0.000026/7
(TOPMED)
A=0.000043/6
(GnomAD)
- HGVS:
18.
rs1489563597 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:179580850
(GRCh38)
3:179298638
(GRCh37)
- Canonical SPDI:
- NC_000003.12:179580849:A:G
- Gene:
- ACTL6A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
G=0.000005/1
(GnomAD_exomes)
- HGVS:
19.
rs1489453479 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CT
[Show Flanks]
- Chromosome:
- 3:179572984
(GRCh38)
3:179290773
(GRCh37)
- Canonical SPDI:
- NC_000003.12:179572984:T:TCT
- Gene:
- ACTL6A (Varview), LOC124909462 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCT=0.002327/38
(
ALFA)
TC=0.000071/1
(TOMMO)
TC=0.001093/7
(1000Genomes)
TC=0.003263/445
(GnomAD)
- HGVS:
20.
rs1489444827 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:179588815
(GRCh38)
3:179306603
(GRCh37)
- Canonical SPDI:
- NC_000003.12:179588814:T:C
- Gene:
- ACTL6A (Varview), MRPL47 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS: