Links from Gene
Items: 1 to 20 of 3072
1.
rs1491065869 has merged into rs141191776 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTCTCTCTCTCTCTCTCTCT>-,CT,CTCT,CTCTCT,CTCTCTCT,CTCTCTCTCT,CTCTCTCTCTCT,CTCTCTCTCTCTCT,CTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT
[Show Flanks]
- Chromosome:
- 5:116050796
(GRCh38)
5:115386493
(GRCh37)
- Canonical SPDI:
- NC_000005.10:116050780:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCT,NC_000005.10:116050780:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCT,NC_000005.10:116050780:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCT,NC_000005.10:116050780:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCT,NC_000005.10:116050780:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCT,NC_000005.10:116050780:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCT,NC_000005.10:116050780:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000005.10:116050780:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000005.10:116050780:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000005.10:116050780:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000005.10:116050780:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000005.10:116050780:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000005.10:116050780:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000005.10:116050780:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000005.10:116050780:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000005.10:116050780:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000005.10:116050780:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000005.10:116050780:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000005.10:116050780:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT
- Gene:
- ARL14EPL (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCTCTCTCTCTCTCTCT=0./0
(
ALFA)
- HGVS:
NC_000005.10:g.116050782CT[7], NC_000005.10:g.116050782CT[8], NC_000005.10:g.116050782CT[9], NC_000005.10:g.116050782CT[10], NC_000005.10:g.116050782CT[11], NC_000005.10:g.116050782CT[12], NC_000005.10:g.116050782CT[13], NC_000005.10:g.116050782CT[14], NC_000005.10:g.116050782CT[15], NC_000005.10:g.116050782CT[16], NC_000005.10:g.116050782CT[18], NC_000005.10:g.116050782CT[19], NC_000005.10:g.116050782CT[20], NC_000005.10:g.116050782CT[21], NC_000005.10:g.116050782CT[22], NC_000005.10:g.116050782CT[23], NC_000005.10:g.116050782CT[24], NC_000005.10:g.116050782CT[25], NC_000005.10:g.116050782CT[27], NC_000005.9:g.115386479CT[7], NC_000005.9:g.115386479CT[8], NC_000005.9:g.115386479CT[9], NC_000005.9:g.115386479CT[10], NC_000005.9:g.115386479CT[11], NC_000005.9:g.115386479CT[12], NC_000005.9:g.115386479CT[13], NC_000005.9:g.115386479CT[14], NC_000005.9:g.115386479CT[15], NC_000005.9:g.115386479CT[16], NC_000005.9:g.115386479CT[18], NC_000005.9:g.115386479CT[19], NC_000005.9:g.115386479CT[20], NC_000005.9:g.115386479CT[21], NC_000005.9:g.115386479CT[22], NC_000005.9:g.115386479CT[23], NC_000005.9:g.115386479CT[24], NC_000005.9:g.115386479CT[25], NC_000005.9:g.115386479CT[27]
3.
rs1490563627 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 5:116057101
(GRCh38)
5:115392798
(GRCh37)
- Canonical SPDI:
- NC_000005.10:116057100:G:T
- Gene:
- ARL14EPL (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000029/4
(GnomAD)
- HGVS:
4.
rs1490475287 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 5:116051742
(GRCh38)
5:115387439
(GRCh37)
- Canonical SPDI:
- NC_000005.10:116051741:C:G,NC_000005.10:116051741:C:T
- Gene:
- ARL14EPL (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000019/5
(TOPMED)
T=0.000035/1
(TOMMO)
- HGVS:
6.
rs1490052033 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 5:116051274
(GRCh38)
5:115386971
(GRCh37)
- Canonical SPDI:
- NC_000005.10:116051273:G:T
- Gene:
- ARL14EPL (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
7.
rs1489998500 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 5:116051379
(GRCh38)
5:115387076
(GRCh37)
- Canonical SPDI:
- NC_000005.10:116051378:G:A,NC_000005.10:116051378:G:C
- Gene:
- ARL14EPL (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000084/1
(
ALFA)
C=0.000007/1
(GnomAD)
A=0.000283/5
(TOMMO)
- HGVS:
8.
rs1489668660 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 5:116058366
(GRCh38)
5:115394063
(GRCh37)
- Canonical SPDI:
- NC_000005.10:116058365:G:A
- Gene:
- ARL14EPL (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
9.
rs1489443865 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 5:116054588
(GRCh38)
5:115390285
(GRCh37)
- Canonical SPDI:
- NC_000005.10:116054587:T:A,NC_000005.10:116054587:T:C
- Gene:
- ARL14EPL (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000023/6
(TOPMED)
A=0.000212/4
(TOMMO)
- HGVS:
10.
rs1489364344 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 5:116057807
(GRCh38)
5:115393504
(GRCh37)
- Canonical SPDI:
- NC_000005.10:116057806:C:G
- Gene:
- ARL14EPL (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000026/7
(TOPMED)
G=0.000029/4
(GnomAD)
- HGVS:
11.
rs1489341201 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 5:116058731
(GRCh38)
5:115394428
(GRCh37)
- Canonical SPDI:
- NC_000005.10:116058730:G:A
- Gene:
- ARL14EPL (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
12.
rs1489169037 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 5:116058477
(GRCh38)
5:115394174
(GRCh37)
- Canonical SPDI:
- NC_000005.10:116058476:C:G
- Gene:
- ARL14EPL (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
13.
rs1489150839 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 5:116052398
(GRCh38)
5:115388095
(GRCh37)
- Canonical SPDI:
- NC_000005.10:116052397:A:
- Gene:
- ARL14EPL (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
14.
rs1488939313 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 5:116056383
(GRCh38)
5:115392080
(GRCh37)
- Canonical SPDI:
- NC_000005.10:116056382:T:C
- Gene:
- ARL14EPL (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
15.
rs1488571960 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 5:116054089
(GRCh38)
5:115389786
(GRCh37)
- Canonical SPDI:
- NC_000005.10:116054088:A:G
- Gene:
- ARL14EPL (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
G=0.000007/1
(GnomAD_exomes)
- HGVS:
16.
rs1488311046 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 5:116052059
(GRCh38)
5:115387756
(GRCh37)
- Canonical SPDI:
- NC_000005.10:116052058:G:A,NC_000005.10:116052058:G:C
- Gene:
- ARL14EPL (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0./0
(GnomAD)
C=0.000004/1
(TOPMED)
C=0.000035/1
(TOMMO)
- HGVS:
17.
rs1488301786 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,G
[Show Flanks]
- Chromosome:
- 5:116053619
(GRCh38)
5:115389316
(GRCh37)
- Canonical SPDI:
- NC_000005.10:116053618:T:A,NC_000005.10:116053618:T:G
- Gene:
- ARL14EPL (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
18.
rs1488248683 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 5:116049354
(GRCh38)
5:115385051
(GRCh37)
- Canonical SPDI:
- NC_000005.10:116049353:A:G
- Gene:
- ARL14EPL (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
G=0.000007/1
(GnomAD)
- HGVS:
19.
rs1488170920 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 5:116050355
(GRCh38)
5:115386052
(GRCh37)
- Canonical SPDI:
- NC_000005.10:116050354:C:G,NC_000005.10:116050354:C:T
- Gene:
- ARL14EPL (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00472/1
(Vietnamese)
- HGVS:
20.
rs1488051410 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:116056228
(GRCh38)
5:115391925
(GRCh37)
- Canonical SPDI:
- NC_000005.10:116056227:C:T
- Gene:
- ARL14EPL (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS: