Links from Gene
Items: 1 to 20 of 16052
1.
rs1491488753 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GC>-
[Show Flanks]
- Chromosome:
- 6:75441839
(GRCh38)
6:76151555
(GRCh37)
- Canonical SPDI:
- NC_000006.12:75441838:GC:
- Gene:
- FILIP1 (Varview), LOC101928540 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.000422/5
(
ALFA)
-=0.000008/1
(GnomAD)
- HGVS:
3.
rs1491386107 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AG
[Show Flanks]
- Chromosome:
- 6:75397489
(GRCh38)
6:76107206
(GRCh37)
- Canonical SPDI:
- NC_000006.12:75397489:G:GAG
- Gene:
- FILIP1 (Varview), LOC101928540 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GAG=0./0
(
ALFA)
GA=0.00003/2
(GnomAD)
- HGVS:
4.
rs1491270591 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CG>-
[Show Flanks]
- Chromosome:
- 6:75457648
(GRCh38)
6:76167364
(GRCh37)
- Canonical SPDI:
- NC_000006.12:75457647:CG:
- Gene:
- FILIP1 (Varview), LOC101928540 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.0043/16
(TWINSUK)
-=0.006/23
(ALSPAC)
- HGVS:
5.
rs1491146630 has merged into rs1426246317 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CC>-,C,CCC
[Show Flanks]
- Chromosome:
- 6:75441845
(GRCh38)
6:76151561
(GRCh37)
- Canonical SPDI:
- NC_000006.12:75441839:CCCCCCC:CCCCC,NC_000006.12:75441839:CCCCCCC:CCCCCC,NC_000006.12:75441839:CCCCCCC:CCCCCCCC
- Gene:
- FILIP1 (Varview), LOC101928540 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCCC=0./0
(
ALFA)
C=0.000048/5
(GnomAD)
- HGVS:
6.
rs1490998673 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 6:75414505
(GRCh38)
6:76124221
(GRCh37)
- Canonical SPDI:
- NC_000006.12:75414504:T:A
- Gene:
- FILIP1 (Varview), LOC101928540 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,genic_downstream_transcript_variant,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:
7.
rs1490972611 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 6:75427900
(GRCh38)
6:76137616
(GRCh37)
- Canonical SPDI:
- NC_000006.12:75427899:C:A,NC_000006.12:75427899:C:G,NC_000006.12:75427899:C:T
- Gene:
- FILIP1 (Varview), MIR4463 (Varview), LOC101928540 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
8.
rs1490886622 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:75458030
(GRCh38)
6:76167746
(GRCh37)
- Canonical SPDI:
- NC_000006.12:75458029:C:T
- Gene:
- FILIP1 (Varview), LOC101928540 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,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:
9.
rs1490880467 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:75401999
(GRCh38)
6:76111715
(GRCh37)
- Canonical SPDI:
- NC_000006.12:75401998:G:A
- Gene:
- FILIP1 (Varview), LOC101928540 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
10.
rs1490880020 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:75383761
(GRCh38)
6:76093477
(GRCh37)
- Canonical SPDI:
- NC_000006.12:75383760:A:G
- Gene:
- FILIP1 (Varview), LOC101928540 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
11.
rs1490860632 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 6:75459256
(GRCh38)
6:76168972
(GRCh37)
- Canonical SPDI:
- NC_000006.12:75459255:AAA:AA
- Gene:
- FILIP1 (Varview), LOC101928540 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AA=0./0
(
ALFA)
-=0.000015/4
(TOPMED)
- HGVS:
12.
rs1490851952 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 6:75400765
(GRCh38)
6:76110481
(GRCh37)
- Canonical SPDI:
- NC_000006.12:75400764:A:T
- Gene:
- FILIP1 (Varview), LOC101928540 (Varview), LOC124901509 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
13.
rs1490783047 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:75419179
(GRCh38)
6:76128895
(GRCh37)
- Canonical SPDI:
- NC_000006.12:75419178:C:T
- Gene:
- FILIP1 (Varview), LOC101928540 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,genic_downstream_transcript_variant,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:
14.
rs1490744584 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 6:75436198
(GRCh38)
6:76145914
(GRCh37)
- Canonical SPDI:
- NC_000006.12:75436197:C:A
- Gene:
- FILIP1 (Varview), LOC101928540 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,genic_downstream_transcript_variant,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:
15.
rs1490735045 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:75453106
(GRCh38)
6:76162822
(GRCh37)
- Canonical SPDI:
- NC_000006.12:75453105:C:T
- Gene:
- FILIP1 (Varview), LOC101928540 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
T=0.000007/1
(GnomAD)
- HGVS:
16.
rs1490717834 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 6:75435135
(GRCh38)
6:76144851
(GRCh37)
- Canonical SPDI:
- NC_000006.12:75435134:G:C
- Gene:
- FILIP1 (Varview), LOC101928540 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000684/2
(KOREAN)
C=0.000991/17
(TOMMO)
C=0.001092/2
(Korea1K)
- HGVS:
17.
rs1490678961 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:75455579
(GRCh38)
6:76165295
(GRCh37)
- Canonical SPDI:
- NC_000006.12:75455578:T:C
- Gene:
- FILIP1 (Varview), LOC101928540 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000142/2
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000011/3
(TOPMED)
- HGVS:
18.
rs1490607056 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:75437925
(GRCh38)
6:76147641
(GRCh37)
- Canonical SPDI:
- NC_000006.12:75437924:T:C
- Gene:
- FILIP1 (Varview), LOC101928540 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
19.
rs1490522296 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 6:75397706
(GRCh38)
6:76107422
(GRCh37)
- Canonical SPDI:
- NC_000006.12:75397705:T:A
- Gene:
- FILIP1 (Varview), LOC101928540 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
20.
rs1490506889 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:75442034
(GRCh38)
6:76151750
(GRCh37)
- Canonical SPDI:
- NC_000006.12:75442033:G:A
- Gene:
- FILIP1 (Varview), LOC101928540 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.00011/2
(TOMMO)
A=0.00103/3
(KOREAN)
- HGVS: