Links from Gene
Items: 1 to 20 of 1353
1.
rs1490986917 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAT>-
[Show Flanks]
- Chromosome:
- 20:30403052
(GRCh38)
20:29637728
(GRCh37)
- Canonical SPDI:
- NC_000020.11:30403048:AATAAAT:AAT
- Gene:
- MLLT10P1 (Varview), FRG1BP (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAT=0./0
(
ALFA)
-=0.000076/20
(TOPMED)
-=0.000107/15
(GnomAD)
- HGVS:
2.
rs1490930553 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 20:30403704
(GRCh38)
20:29638380
(GRCh37)
- Canonical SPDI:
- NC_000020.11:30403703:T:C
- Gene:
- MLLT10P1 (Varview), FRG1BP (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000079/11
(GnomAD)
C=0.000312/2
(1000Genomes)
- HGVS:
3.
rs1489535768 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 20:30402546
(GRCh38)
20:29637222
(GRCh37)
- Canonical SPDI:
- NC_000020.11:30402545:C:T
- Gene:
- MLLT10P1 (Varview), FRG1BP (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
4.
rs1488029240 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 20:30405181
(GRCh38)
20:29639857
(GRCh37)
- Canonical SPDI:
- NC_000020.11:30405180:A:G
- Gene:
- MLLT10P1 (Varview), FRG1BP (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.01335/218
(
ALFA)
G=0.001203/125
(GnomAD)
G=0.003292/55
(TOMMO)
G=0.003906/7
(Korea1K)
G=0.007964/51
(1000Genomes)
G=0.040606/118
(KOREAN)
- HGVS:
5.
rs1488024120 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 20:30405345
(GRCh38)
20:29640021
(GRCh37)
- Canonical SPDI:
- NC_000020.11:30405344:CC:C
- Gene:
- MLLT10P1 (Varview), FRG1BP (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CC=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000008/1
(GnomAD)
- HGVS:
6.
rs1487737418 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C,T
[Show Flanks]
- Chromosome:
- 20:30405409
(GRCh38)
20:29640085
(GRCh37)
- Canonical SPDI:
- NC_000020.11:30405408:G:A,NC_000020.11:30405408:G:C,NC_000020.11:30405408:G:T
- Gene:
- MLLT10P1 (Varview), FRG1BP (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.0027/32
(
ALFA)
A=0.00028/8
(TOMMO)
G=0.5/1
(SGDP_PRJ)
- HGVS:
7.
rs1487684159 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 20:30403093
(GRCh38)
20:29637769
(GRCh37)
- Canonical SPDI:
- NC_000020.11:30403092:C:A
- Gene:
- MLLT10P1 (Varview), FRG1BP (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
8.
rs1487478755 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 20:30404929
(GRCh38)
20:29639605
(GRCh37)
- Canonical SPDI:
- NC_000020.11:30404928:A:C
- Gene:
- MLLT10P1 (Varview), FRG1BP (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.00025/3
(
ALFA)
C=0.00016/1
(1000Genomes)
C=0.00685/20
(KOREAN)
- HGVS:
9.
rs1486494228 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 20:30404784
(GRCh38)
20:29639460
(GRCh37)
- Canonical SPDI:
- NC_000020.11:30404783:C:A,NC_000020.11:30404783:C:T
- Gene:
- MLLT10P1 (Varview), FRG1BP (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000019/5
(TOPMED)
- HGVS:
10.
rs1485988869 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 20:30403169
(GRCh38)
20:29637845
(GRCh37)
- Canonical SPDI:
- NC_000020.11:30403168:G:A
- Gene:
- MLLT10P1 (Varview), FRG1BP (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_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:
11.
rs1485773415 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 20:30402611
(GRCh38)
20:29637287
(GRCh37)
- Canonical SPDI:
- NC_000020.11:30402610:T:C
- Gene:
- MLLT10P1 (Varview), FRG1BP (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
12.
rs1485511389 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 20:30404628
(GRCh38)
20:29639304
(GRCh37)
- Canonical SPDI:
- NC_000020.11:30404627:C:A,NC_000020.11:30404627:C:T
- Gene:
- MLLT10P1 (Varview), FRG1BP (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000036/5
(GnomAD)
T=0.00006/1
(TOMMO)
- HGVS:
13.
rs1484528906 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 20:30404400
(GRCh38)
20:29639076
(GRCh37)
- Canonical SPDI:
- NC_000020.11:30404399:GG:G
- Gene:
- MLLT10P1 (Varview), FRG1BP (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GG=0./0
(
ALFA)
-=0.00001/1
(GnomAD)
-=0.000072/19
(TOPMED)
- HGVS:
15.
rs1484231780 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 20:30404347
(GRCh38)
20:29639023
(GRCh37)
- Canonical SPDI:
- NC_000020.11:30404346:G:A
- Gene:
- MLLT10P1 (Varview), FRG1BP (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
G=0.5/1
(SGDP_PRJ)
- HGVS:
16.
rs1483565339 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CCCTCTCTTTCCACGGTCTCCCTCT>-
[Show Flanks]
- Chromosome:
- 20:30404235
(GRCh38)
20:29638911
(GRCh37)
- Canonical SPDI:
- NC_000020.11:30404219:CCACGGTCTCCCTCTCCCTCTCTTTCCACGGTCTCCCTCT:CCACGGTCTCCCTCT
- Gene:
- MLLT10P1 (Varview), FRG1BP (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCACGGTCTCCCTCT=0.000142/2
(
ALFA)
-=0.000035/1
(TOMMO)
-=0.000072/8
(GnomAD)
- HGVS:
17.
rs1482338132 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 20:30405410
(GRCh38)
20:29640086
(GRCh37)
- Canonical SPDI:
- NC_000020.11:30405409:G:A,NC_000020.11:30405409:G:T
- Gene:
- MLLT10P1 (Varview), FRG1BP (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
A=0.00009/12
(GnomAD)
- HGVS:
18.
rs1481701178 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CAT>-
[Show Flanks]
- Chromosome:
- 20:30403093
(GRCh38)
20:29637769
(GRCh37)
- Canonical SPDI:
- NC_000020.11:30403089:CATCAT:CAT
- Gene:
- MLLT10P1 (Varview), FRG1BP (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CATCAT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
19.
rs1481485548 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 20:30403149
(GRCh38)
20:29637825
(GRCh37)
- Canonical SPDI:
- NC_000020.11:30403148:T:A,NC_000020.11:30403148:T:C
- Gene:
- MLLT10P1 (Varview), FRG1BP (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000035/1
(TOMMO)
- HGVS:
20.
rs1481400330 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 20:30404649
(GRCh38)
20:29639325
(GRCh37)
- Canonical SPDI:
- NC_000020.11:30404648:G:A
- Gene:
- MLLT10P1 (Varview), FRG1BP (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_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: