Links from Gene
Items: 1 to 20 of 9823
1.
rs1491579759 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 2:237831243
(GRCh38)
2:238739886
(GRCh37)
- Canonical SPDI:
- NC_000002.12:237831242:TG:
- Gene:
- RBM44 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.001433/17
(
ALFA)
-=0.001809/197
(GnomAD)
- HGVS:
2.
rs1491555440 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 2:237834886
(GRCh38)
2:238743529
(GRCh37)
- Canonical SPDI:
- NC_000002.12:237834885:AA:
- Gene:
- RBM44 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000019/5
(TOPMED)
-=0.000036/5
(GnomAD)
- HGVS:
3.
rs1491467844 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 2:237823166
(GRCh38)
2:238731810
(GRCh37)
- Canonical SPDI:
- NC_000002.12:237823166:T:TT
- Gene:
- RBM44 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TT=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
4.
rs1491456544 has merged into rs34666443 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAA>-,A,AA,AAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 2:237840197
(GRCh38)
2:238748840
(GRCh37)
- Canonical SPDI:
- NC_000002.12:237840187:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000002.12:237840187:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:237840187:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:237840187:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:237840187:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:237840187:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:237840187:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:237840187:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:237840187:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:237840187:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:237840187:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:237840187:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:237840187:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:237840187:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:237840187:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:237840187:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:237840187:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:237840187:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:237840187:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:237840187:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:237840187:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- RBM44 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000002.12:g.237840197_237840210del, NC_000002.12:g.237840198_237840210del, NC_000002.12:g.237840199_237840210del, NC_000002.12:g.237840201_237840210del, NC_000002.12:g.237840204_237840210del, NC_000002.12:g.237840206_237840210del, NC_000002.12:g.237840207_237840210del, NC_000002.12:g.237840208_237840210del, NC_000002.12:g.237840209_237840210del, NC_000002.12:g.237840210del, NC_000002.12:g.237840210dup, NC_000002.12:g.237840209_237840210dup, NC_000002.12:g.237840208_237840210dup, NC_000002.12:g.237840207_237840210dup, NC_000002.12:g.237840206_237840210dup, NC_000002.12:g.237840205_237840210dup, NC_000002.12:g.237840204_237840210dup, NC_000002.12:g.237840203_237840210dup, NC_000002.12:g.237840210_237840211insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.237840210_237840211insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.237840188_237840210A[35]CAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000002.11:g.238748840_238748853del, NC_000002.11:g.238748841_238748853del, NC_000002.11:g.238748842_238748853del, NC_000002.11:g.238748844_238748853del, NC_000002.11:g.238748847_238748853del, NC_000002.11:g.238748849_238748853del, NC_000002.11:g.238748850_238748853del, NC_000002.11:g.238748851_238748853del, NC_000002.11:g.238748852_238748853del, NC_000002.11:g.238748853del, NC_000002.11:g.238748853dup, NC_000002.11:g.238748852_238748853dup, NC_000002.11:g.238748851_238748853dup, NC_000002.11:g.238748850_238748853dup, NC_000002.11:g.238748849_238748853dup, NC_000002.11:g.238748848_238748853dup, NC_000002.11:g.238748847_238748853dup, NC_000002.11:g.238748846_238748853dup, NC_000002.11:g.238748853_238748854insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.238748853_238748854insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.238748831_238748853A[35]CAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
5.
rs1491413092 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 2:237840187
(GRCh38)
2:238748830
(GRCh37)
- Canonical SPDI:
- NC_000002.12:237840186:CA:
- Gene:
- RBM44 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.0075/89
(
ALFA)
-=0.00133/36
(TOMMO)
- HGVS:
6.
rs1491396454 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TG,TGG
[Show Flanks]
- Chromosome:
- 2:237831243
(GRCh38)
2:238739887
(GRCh37)
- Canonical SPDI:
- NC_000002.12:237831243::TG,NC_000002.12:237831243::TGG
- Gene:
- RBM44 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGG=0./0
(
ALFA)
TG=0.000088/9
(GnomAD)
- HGVS:
7.
rs1491266006 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 2:237823166
(GRCh38)
2:238731809
(GRCh37)
- Canonical SPDI:
- NC_000002.12:237823165:AT:
- Gene:
- RBM44 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
8.
rs1491226741 has merged into rs367765695 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AGAG>-,AG,AGAGAG
[Show Flanks]
- Chromosome:
- 2:237834897
(GRCh38)
2:238743540
(GRCh37)
- Canonical SPDI:
- NC_000002.12:237834886:AGAGAGAGAGAGAG:AGAGAGAGAG,NC_000002.12:237834886:AGAGAGAGAGAGAG:AGAGAGAGAGAG,NC_000002.12:237834886:AGAGAGAGAGAGAG:AGAGAGAGAGAGAGAG
- Gene:
- RBM44 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAGAGAGAGAG=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.008734/16
(Korea1K)
- HGVS:
9.
rs1491036679 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 2:237803346
(GRCh38)
2:238711989
(GRCh37)
- Canonical SPDI:
- NC_000002.12:237803344:ATA:A
- Gene:
- RBM44 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
10.
rs1490967358 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:237837197
(GRCh38)
2:238745840
(GRCh37)
- Canonical SPDI:
- NC_000002.12:237837196:G:A
- Gene:
- RBM44 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
11.
rs1490943498 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 2:237801753
(GRCh38)
2:238710396
(GRCh37)
- Canonical SPDI:
- NC_000002.12:237801752:TT:T
- Gene:
- RBM44 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0.000071/1
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000008/2
(TOPMED)
- HGVS:
12.
rs1490924262 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-,AA
[Show Flanks]
- Chromosome:
- 2:237840559
(GRCh38)
2:238749202
(GRCh37)
- Canonical SPDI:
- NC_000002.12:237840558:AAAAAAA:AAAAAA,NC_000002.12:237840558:AAAAAAA:AAAAAAAA
- Gene:
- RBM44 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAA=0.000084/1
(
ALFA)
-=0.000021/3
(GnomAD)
-=0.000034/9
(TOPMED)
-=0.000035/1
(TOMMO)
- HGVS:
13.
rs1490624619 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 2:237821757
(GRCh38)
2:238730400
(GRCh37)
- Canonical SPDI:
- NC_000002.12:237821756:A:T
- Gene:
- RBM44 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000002.12:g.237821757A>T, NC_000002.11:g.238730400A>T, NM_001080504.3:c.2135A>T, NM_001080504.2:c.2138A>T, XM_017004058.3:c.275A>T, XM_017004058.2:c.275A>T, XM_017004058.1:c.275A>T, XM_011511152.3:c.2123A>T, XM_011511152.2:c.2123A>T, XM_011511152.1:c.2123A>T, XM_011511153.3:c.2123A>T, XM_011511153.2:c.2123A>T, XM_011511153.1:c.2123A>T, XM_017004056.2:c.2123A>T, XM_017004056.1:c.2123A>T, XM_017004055.2:c.2123A>T, XM_017004055.1:c.2123A>T, XM_017004054.2:c.2123A>T, XM_017004054.1:c.2123A>T, XM_005246075.2:c.2123A>T, XM_005246075.1:c.2123A>T, XM_017004057.2:c.2123A>T, XM_017004057.1:c.2123A>T, NP_001073973.3:p.Asp712Val, XP_016859547.1:p.Asp92Val, XP_011509454.1:p.Asp708Val, XP_011509455.1:p.Asp708Val, XP_016859545.1:p.Asp708Val, XP_016859544.1:p.Asp708Val, XP_016859543.1:p.Asp708Val, XP_005246132.1:p.Asp708Val, XP_016859546.1:p.Asp708Val
14.
rs1490589136 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 2:237810505
(GRCh38)
2:238719148
(GRCh37)
- Canonical SPDI:
- NC_000002.12:237810504:C:G
- Gene:
- RBM44 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000019/5
(TOPMED)
G=0.000043/6
(GnomAD)
- HGVS:
15.
rs1490457745 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAATA>-
[Show Flanks]
- Chromosome:
- 2:237842039
(GRCh38)
2:238750682
(GRCh37)
- Canonical SPDI:
- NC_000002.12:237842036:TAAAATA:TA
- Gene:
- RBM44 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TA=0.000054/1
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.000014/2
(GnomAD)
-=0.000223/1
(Estonian)
- HGVS:
NC_000002.12:g.237842039_237842043del, NC_000002.11:g.238750682_238750686del, NM_001080504.3:c.*223_*227del, NM_001080504.2:c.*223_*227del, XM_017004058.3:c.*223_*227del, XM_017004058.2:c.*223_*227del, XM_017004058.1:c.*223_*227del, XM_017004056.2:c.*223_*227del, XM_017004056.1:c.*223_*227del, XM_017004055.2:c.*223_*227del, XM_017004055.1:c.*223_*227del, XM_017004054.2:c.*223_*227del, XM_017004054.1:c.*223_*227del, XM_005246075.2:c.*223_*227del, XM_005246075.1:c.*223_*227del, XM_011511155.2:c.*223_*227del, XM_011511155.1:c.*223_*227del, NM_198852.1:c.*223_*227del
16.
rs1490434501 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 2:237839644
(GRCh38)
2:238748287
(GRCh37)
- Canonical SPDI:
- NC_000002.12:237839643:T:
- Gene:
- RBM44 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
17.
rs1490423074 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-,AA
[Show Flanks]
- Chromosome:
- 2:237838407
(GRCh38)
2:238747050
(GRCh37)
- Canonical SPDI:
- NC_000002.12:237838406:AAAAAA:AAAAA,NC_000002.12:237838406:AAAAAA:AAAAAAA
- Gene:
- RBM44 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
18.
rs1490213860 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:237825954
(GRCh38)
2:238734597
(GRCh37)
- Canonical SPDI:
- NC_000002.12:237825953:G:A
- Gene:
- RBM44 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000019/5
(TOPMED)
- HGVS:
20.
rs1489987629 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:237808957
(GRCh38)
2:238717600
(GRCh37)
- Canonical SPDI:
- NC_000002.12:237808956:G:A
- Gene:
- RBM44 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
A=0.000035/1
(TOMMO)
A=0.000342/1
(KOREAN)
- HGVS: