Links from Gene
Items: 1 to 20 of 2572
1.
rs1491131601 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 16:57248696
(GRCh38)
16:57282608
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57248694:AAA:A
- Gene:
- ARL2BP (Varview), LOC124903697 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
-=0.000009/1
(ExAC)
- HGVS:
2.
rs1490780725 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 16:57245694
(GRCh38)
16:57279606
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57245693:G:A,NC_000016.10:57245693:G:T
- Gene:
- ARL2BP (Varview), LOC124903697 (Varview)
- Functional Consequence:
- 500B_downstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
4.
rs1489780645 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:57247971
(GRCh38)
16:57281883
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57247970:C:T
- Gene:
- ARL2BP (Varview), LOC124903697 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
5.
rs1489453519 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAGAAA>-
[Show Flanks]
- Chromosome:
- 16:57248329
(GRCh38)
16:57282241
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57248325:AAAAAAAAAAAGAAA:AAA
- Gene:
- ARL2BP (Varview), LOC124903697 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAA=0./0
(
ALFA)
-=0.000051/7
(GnomAD)
-=0.001638/3
(Korea1K)
-=0.004609/77
(TOMMO)
- HGVS:
6.
rs1489403870 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 16:57248074
(GRCh38)
16:57281986
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57248073:G:A,NC_000016.10:57248073:G:T
- Gene:
- ARL2BP (Varview), LOC124903697 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
7.
rs1489351857 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:57249481
(GRCh38)
16:57283393
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57249480:C:T
- Gene:
- ARL2BP (Varview), LOC124903697 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000021/3
(GnomAD)
T=0.00003/8
(TOPMED)
- HGVS:
8.
rs1488559013 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 16:57245973
(GRCh38)
16:57279885
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57245972:C:G,NC_000016.10:57245972:C:T
- Gene:
- ARL2BP (Varview), LOC124903697 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
9.
rs1488081676 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:57253855
(GRCh38)
16:57287767
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57253854:G:A
- Gene:
- ARL2BP (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000035/1
(TOMMO)
- HGVS:
10.
rs1487800483 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:57248916
(GRCh38)
16:57282828
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57248915:A:G
- Gene:
- ARL2BP (Varview), LOC124903697 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
11.
rs1487480595 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 16:57250038
(GRCh38)
16:57283950
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57250034:TGTGT:TGT
- Gene:
- ARL2BP (Varview), LOC124903697 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGT=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.000021/3
(GnomAD)
- HGVS:
13.
rs1487061784 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 16:57247249
(GRCh38)
16:57281161
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57247248:T:G
- Gene:
- ARL2BP (Varview), LOC124903697 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
14.
rs1486858596 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 16:57250688
(GRCh38)
16:57284600
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57250687:C:G
- Gene:
- ARL2BP (Varview), LOC124903697 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000038/10
(TOPMED)
- HGVS:
15.
rs1486843079 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 16:57243553
(GRCh38)
16:57277465
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57243552:C:A
- Gene:
- ARL2BP (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
16.
rs1486739847 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:57245339
(GRCh38)
16:57279251
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57245338:G:A
- Gene:
- ARL2BP (Varview), LOC124903697 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000005/1
(GnomAD_exomes)
A=0.000071/2
(TOMMO)
A=0.000561/1
(Korea1K)
- HGVS:
17.
rs1486602762 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 16:57244170
(GRCh38)
16:57278082
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57244169:A:C
- Gene:
- ARL2BP (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
18.
rs1486407685 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATTA>-
[Show Flanks]
- Chromosome:
- 16:57243928
(GRCh38)
16:57277840
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57243926:AATTA:A
- Gene:
- ARL2BP (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000008/2
(TOPMED)
- HGVS:
19.
rs1486361831 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 16:57252836
(GRCh38)
16:57286748
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57252835:T:C,NC_000016.10:57252835:T:G
- Gene:
- ARL2BP (Varview), LOC124903697 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
NC_000016.10:g.57252836T>C, NC_000016.10:g.57252836T>G, NC_000016.9:g.57286748T>C, NC_000016.9:g.57286748T>G, NG_033905.1:g.12711T>C, NG_033905.1:g.12711T>G, NM_012106.4:c.*569T>C, NM_012106.4:c.*569T>G, NM_012106.3:c.*569T>C, NM_012106.3:c.*569T>G, XM_047433883.1:c.*569T>C, XM_047433883.1:c.*569T>G