Links from Gene
Items: 1 to 20 of 4549
1.
rs1491519762 has merged into rs60387474 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 19:7695931
(GRCh38)
19:7760817
(GRCh37)
- Canonical SPDI:
- NC_000019.10:7695920:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:7695920:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:7695920:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:7695920:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:7695920:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:7695920:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:7695920:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:7695920:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:7695920:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:7695920:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:7695920:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:7695920:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:7695920:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:7695920:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:7695920:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:7695920:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:7695920:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:7695920:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:7695920:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:7695920:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:7695920:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:7695920:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- FCER2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000019.10:g.7695931_7695944del, NC_000019.10:g.7695932_7695944del, NC_000019.10:g.7695933_7695944del, NC_000019.10:g.7695934_7695944del, NC_000019.10:g.7695936_7695944del, NC_000019.10:g.7695937_7695944del, NC_000019.10:g.7695938_7695944del, NC_000019.10:g.7695939_7695944del, NC_000019.10:g.7695940_7695944del, NC_000019.10:g.7695941_7695944del, NC_000019.10:g.7695942_7695944del, NC_000019.10:g.7695943_7695944del, NC_000019.10:g.7695944del, NC_000019.10:g.7695944dup, NC_000019.10:g.7695943_7695944dup, NC_000019.10:g.7695942_7695944dup, NC_000019.10:g.7695941_7695944dup, NC_000019.10:g.7695940_7695944dup, NC_000019.10:g.7695939_7695944dup, NC_000019.10:g.7695937_7695944dup, NC_000019.10:g.7695936_7695944dup, NC_000019.10:g.7695933_7695944dup, NC_000019.9:g.7760817_7760830del, NC_000019.9:g.7760818_7760830del, NC_000019.9:g.7760819_7760830del, NC_000019.9:g.7760820_7760830del, NC_000019.9:g.7760822_7760830del, NC_000019.9:g.7760823_7760830del, NC_000019.9:g.7760824_7760830del, NC_000019.9:g.7760825_7760830del, NC_000019.9:g.7760826_7760830del, NC_000019.9:g.7760827_7760830del, NC_000019.9:g.7760828_7760830del, NC_000019.9:g.7760829_7760830del, NC_000019.9:g.7760830del, NC_000019.9:g.7760830dup, NC_000019.9:g.7760829_7760830dup, NC_000019.9:g.7760828_7760830dup, NC_000019.9:g.7760827_7760830dup, NC_000019.9:g.7760826_7760830dup, NC_000019.9:g.7760825_7760830dup, NC_000019.9:g.7760823_7760830dup, NC_000019.9:g.7760822_7760830dup, NC_000019.9:g.7760819_7760830dup, NG_029554.1:g.11213_11226del, NG_029554.1:g.11214_11226del, NG_029554.1:g.11215_11226del, NG_029554.1:g.11216_11226del, NG_029554.1:g.11218_11226del, NG_029554.1:g.11219_11226del, NG_029554.1:g.11220_11226del, NG_029554.1:g.11221_11226del, NG_029554.1:g.11222_11226del, NG_029554.1:g.11223_11226del, NG_029554.1:g.11224_11226del, NG_029554.1:g.11225_11226del, NG_029554.1:g.11226del, NG_029554.1:g.11226dup, NG_029554.1:g.11225_11226dup, NG_029554.1:g.11224_11226dup, NG_029554.1:g.11223_11226dup, NG_029554.1:g.11222_11226dup, NG_029554.1:g.11221_11226dup, NG_029554.1:g.11219_11226dup, NG_029554.1:g.11218_11226dup, NG_029554.1:g.11215_11226dup
2.
rs1491406926 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A,AA,AAA
[Show Flanks]
- Chromosome:
- 19:7703306
(GRCh38)
19:7768193
(GRCh37)
- Canonical SPDI:
- NC_000019.10:7703306:A:AA,NC_000019.10:7703306:A:AAA,NC_000019.10:7703306:A:AAAA
- Gene:
- FCER2 (Varview), LOC105372262 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0.00018/3
(
ALFA)
A=0.00038/6
(TOMMO)
- HGVS:
4.
rs1490900161 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 19:7699596
(GRCh38)
19:7764482
(GRCh37)
- Canonical SPDI:
- NC_000019.10:7699595:C:G,NC_000019.10:7699595:C:T
- Gene:
- FCER2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000021/3
(GnomAD)
- HGVS:
5.
rs1490533002 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:7698503
(GRCh38)
19:7763389
(GRCh37)
- Canonical SPDI:
- NC_000019.10:7698502:G:A
- Gene:
- FCER2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
6.
rs1490338897 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:7694264
(GRCh38)
19:7759150
(GRCh37)
- Canonical SPDI:
- NC_000019.10:7694263:C:T
- Gene:
- FCER2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
7.
rs1490097376 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:7701190
(GRCh38)
19:7766076
(GRCh37)
- Canonical SPDI:
- NC_000019.10:7701189:A:G
- Gene:
- FCER2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
8.
rs1490072914 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 19:7698446
(GRCh38)
19:7763332
(GRCh37)
- Canonical SPDI:
- NC_000019.10:7698445:A:C
- Gene:
- FCER2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000009/2
(GnomAD_exomes)
- HGVS:
9.
rs1489962069 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:7701257
(GRCh38)
19:7766143
(GRCh37)
- Canonical SPDI:
- NC_000019.10:7701256:G:A
- Gene:
- FCER2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
10.
rs1489910914 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:7700423
(GRCh38)
19:7765309
(GRCh37)
- Canonical SPDI:
- NC_000019.10:7700422:A:G
- Gene:
- FCER2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
11.
rs1489910219 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:7698889
(GRCh38)
19:7763775
(GRCh37)
- Canonical SPDI:
- NC_000019.10:7698888:G:A
- Gene:
- FCER2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000013/2
(GnomAD_exomes)
- HGVS:
12.
rs1489760197 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 19:7689149
(GRCh38)
19:7754035
(GRCh37)
- Canonical SPDI:
- NC_000019.10:7689148:T:G
- Gene:
- FCER2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
NC_000019.10:g.7689149T>G, NC_000019.9:g.7754035T>G, NG_029554.1:g.17998A>C, NM_002002.5:c.*44A>C, NM_002002.4:c.*44A>C, NM_001207019.3:c.*44A>C, NM_001207019.2:c.*44A>C, NM_001220500.2:c.*44A>C, NM_001220500.1:c.*44A>C, XM_005272462.5:c.*44A>C, XM_005272462.4:c.*44A>C, XM_005272462.3:c.*44A>C, XM_005272462.2:c.*44A>C, XM_005272462.1:c.*44A>C
13.
rs1489741886 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 19:7701413
(GRCh38)
19:7766299
(GRCh37)
- Canonical SPDI:
- NC_000019.10:7701412:C:A
- Gene:
- FCER2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
14.
rs1489519818 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:7704389
(GRCh38)
19:7769275
(GRCh37)
- Canonical SPDI:
- NC_000019.10:7704388:C:T
- Gene:
- LOC105372262 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
15.
rs1489470488 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C,T
[Show Flanks]
- Chromosome:
- 19:7699330
(GRCh38)
19:7764216
(GRCh37)
- Canonical SPDI:
- NC_000019.10:7699329:G:A,NC_000019.10:7699329:G:C,NC_000019.10:7699329:G:T
- Gene:
- FCER2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
16.
rs1489339136 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 19:7704727
(GRCh38)
19:7769613
(GRCh37)
- Canonical SPDI:
- NC_000019.10:7704726:G:T
- Gene:
- LOC105372262 (Varview)
- Functional Consequence:
- 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:
17.
rs1488838469 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 19:7694796
(GRCh38)
19:7759682
(GRCh37)
- Canonical SPDI:
- NC_000019.10:7694795:G:A,NC_000019.10:7694795:G:C
- Gene:
- FCER2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
18.
rs1488806537 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:7703696
(GRCh38)
19:7768582
(GRCh37)
- Canonical SPDI:
- NC_000019.10:7703695:C:T
- Gene:
- FCER2 (Varview), LOC105372262 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
T=0.000007/1
(GnomAD)
- HGVS:
19.
rs1488511922 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 19:7698410
(GRCh38)
19:7763296
(GRCh37)
- Canonical SPDI:
- NC_000019.10:7698409:C:G
- Gene:
- FCER2 (Varview)
- Functional Consequence:
- splice_acceptor_variant
- Validated:
- by frequency
- MAF:
G=0.000008/2
(GnomAD_exomes)
- HGVS:
20.
rs1488236239 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 19:7690344
(GRCh38)
19:7755230
(GRCh37)
- Canonical SPDI:
- NC_000019.10:7690343:T:A
- Gene:
- FCER2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000224/1
(
ALFA)
A=0.000008/1
(GnomAD)
A=0.000224/1
(Estonian)
- HGVS: