Links from Gene
Items: 1 to 20 of 1000
1.
rs1491563360 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 12:66233672
(GRCh38)
12:66627452
(GRCh37)
- Canonical SPDI:
- NC_000012.12:66233668:ACACA:ACA
- Gene:
- IRAK3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
ACA=0.000142/2
(
ALFA)
-=0.000021/3
(GnomAD)
- HGVS:
2.
rs1491550362 has merged into rs370945705 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT
[Show Flanks]
- Chromosome:
- 12:66249180
(GRCh38)
12:66642960
(GRCh37)
- Canonical SPDI:
- NC_000012.12:66249170:TTTTTTTTTTT:TTTTTTTTT,NC_000012.12:66249170:TTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:66249170:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:66249170:TTTTTTTTTTT:TTTTTTTTTTTTT
- Gene:
- IRAK3 (Varview), MIR6502 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
T=0.000248/4
(TOMMO)
T=0.043333/26
(NorthernSweden)
T=0.05/2
(GENOME_DK)
T=0.068117/18030
(TOPMED)
- HGVS:
NC_000012.12:g.66249180_66249181del, NC_000012.12:g.66249181del, NC_000012.12:g.66249181dup, NC_000012.12:g.66249180_66249181dup, NC_000012.11:g.66642960_66642961del, NC_000012.11:g.66642961del, NC_000012.11:g.66642961dup, NC_000012.11:g.66642960_66642961dup, NG_021194.1:g.64983_64984del, NG_021194.1:g.64984del, NG_021194.1:g.64984dup, NG_021194.1:g.64983_64984dup, NM_007199.3:c.*1009_*1010del, NM_007199.3:c.*1010del, NM_007199.3:c.*1010dup, NM_007199.3:c.*1009_*1010dup, NM_007199.2:c.*1009_*1010del, NM_007199.2:c.*1010del, NM_007199.2:c.*1010dup, NM_007199.2:c.*1009_*1010dup, NM_001142523.2:c.*1009_*1010del, NM_001142523.2:c.*1010del, NM_001142523.2:c.*1010dup, NM_001142523.2:c.*1009_*1010dup, NM_001142523.1:c.*1009_*1010del, NM_001142523.1:c.*1010del, NM_001142523.1:c.*1010dup, NM_001142523.1:c.*1009_*1010dup
3.
rs1491545667 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AC
[Show Flanks]
- Chromosome:
- 12:66204776
(GRCh38)
12:66598557
(GRCh37)
- Canonical SPDI:
- NC_000012.12:66204776:C:CAC
- Gene:
- IRAK3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CAC=0./0
(
ALFA)
CA=0.00003/2
(GnomAD)
- HGVS:
4.
rs1491431007 has merged into rs71096082 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAA,AAAAA,AAAAAA
[Show Flanks]
- Chromosome:
- 12:66233529
(GRCh38)
12:66627309
(GRCh37)
- Canonical SPDI:
- NC_000012.12:66233519:AAAAAAAAAAA:AAAAAAAAA,NC_000012.12:66233519:AAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:66233519:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:66233519:AAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:66233519:AAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:66233519:AAAAAAAAAAA:AAAAAAAAAAAAAAA
- Gene:
- IRAK3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
-=0.3832/1919
(1000Genomes)
- HGVS:
NC_000012.12:g.66233529_66233530del, NC_000012.12:g.66233530del, NC_000012.12:g.66233530dup, NC_000012.12:g.66233529_66233530dup, NC_000012.12:g.66233528_66233530dup, NC_000012.12:g.66233527_66233530dup, NC_000012.11:g.66627309_66627310del, NC_000012.11:g.66627310del, NC_000012.11:g.66627310dup, NC_000012.11:g.66627309_66627310dup, NC_000012.11:g.66627308_66627310dup, NC_000012.11:g.66627307_66627310dup, NG_000866.4:g.1806_1807del, NG_000866.4:g.1807del, NG_000866.4:g.1807dup, NG_000866.4:g.1806_1807dup, NG_000866.4:g.1805_1807dup, NG_000866.4:g.1804_1807dup, NG_021194.1:g.49332_49333del, NG_021194.1:g.49333del, NG_021194.1:g.49333dup, NG_021194.1:g.49332_49333dup, NG_021194.1:g.49331_49333dup, NG_021194.1:g.49330_49333dup
6.
rs1491315242 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 12:66236395
(GRCh38)
12:66630175
(GRCh37)
- Canonical SPDI:
- NC_000012.12:66236394:CA:
- Gene:
- IRAK3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.0011/13
(
ALFA)
-=0.00094/48
(GnomAD)
- HGVS:
7.
rs1491302675 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 12:66204820
(GRCh38)
12:66598600
(GRCh37)
- Canonical SPDI:
- NC_000012.12:66204819:AA:
- Gene:
- IRAK3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.000084/1
(
ALFA)
-=0.000053/7
(GnomAD)
- HGVS:
8.
rs1491263190 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 12:66228682
(GRCh38)
12:66622462
(GRCh37)
- Canonical SPDI:
- NC_000012.12:66228681:TA:
- Gene:
- IRAK3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000038/10
(TOPMED)
-=0.000042/4
(GnomAD)
-=0.000142/2
(TOMMO)
- HGVS:
9.
rs1491218739 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 12:66249171
(GRCh38)
12:66642952
(GRCh37)
- Canonical SPDI:
- NC_000012.12:66249171::C
- Gene:
- IRAK3 (Varview), MIR6502 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
10.
rs1491172676 has merged into rs56074285 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAA>-,AA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 12:66236405
(GRCh38)
12:66630185
(GRCh37)
- Canonical SPDI:
- NC_000012.12:66236395:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000012.12:66236395:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:66236395:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:66236395:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:66236395:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:66236395:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:66236395:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:66236395:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:66236395:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:66236395:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:66236395:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:66236395:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:66236395:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:66236395:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:66236395:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:66236395:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:66236395:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:66236395:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:66236395:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:66236395:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:66236395:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:66236395:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:66236395:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:66236395:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:66236395:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- IRAK3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000012.12:g.66236405_66236418del, NC_000012.12:g.66236407_66236418del, NC_000012.12:g.66236410_66236418del, NC_000012.12:g.66236411_66236418del, NC_000012.12:g.66236412_66236418del, NC_000012.12:g.66236414_66236418del, NC_000012.12:g.66236415_66236418del, NC_000012.12:g.66236416_66236418del, NC_000012.12:g.66236417_66236418del, NC_000012.12:g.66236418del, NC_000012.12:g.66236418dup, NC_000012.12:g.66236417_66236418dup, NC_000012.12:g.66236416_66236418dup, NC_000012.12:g.66236415_66236418dup, NC_000012.12:g.66236413_66236418dup, NC_000012.12:g.66236412_66236418dup, NC_000012.12:g.66236410_66236418dup, NC_000012.12:g.66236409_66236418dup, NC_000012.12:g.66236408_66236418dup, NC_000012.12:g.66236407_66236418dup, NC_000012.12:g.66236405_66236418dup, NC_000012.12:g.66236404_66236418dup, NC_000012.12:g.66236402_66236418dup, NC_000012.12:g.66236401_66236418dup, NC_000012.12:g.66236399_66236418dup, NC_000012.11:g.66630185_66630198del, NC_000012.11:g.66630187_66630198del, NC_000012.11:g.66630190_66630198del, NC_000012.11:g.66630191_66630198del, NC_000012.11:g.66630192_66630198del, NC_000012.11:g.66630194_66630198del, NC_000012.11:g.66630195_66630198del, NC_000012.11:g.66630196_66630198del, NC_000012.11:g.66630197_66630198del, NC_000012.11:g.66630198del, NC_000012.11:g.66630198dup, NC_000012.11:g.66630197_66630198dup, NC_000012.11:g.66630196_66630198dup, NC_000012.11:g.66630195_66630198dup, NC_000012.11:g.66630193_66630198dup, NC_000012.11:g.66630192_66630198dup, NC_000012.11:g.66630190_66630198dup, NC_000012.11:g.66630189_66630198dup, NC_000012.11:g.66630188_66630198dup, NC_000012.11:g.66630187_66630198dup, NC_000012.11:g.66630185_66630198dup, NC_000012.11:g.66630184_66630198dup, NC_000012.11:g.66630182_66630198dup, NC_000012.11:g.66630181_66630198dup, NC_000012.11:g.66630179_66630198dup, NG_021194.1:g.52208_52221del, NG_021194.1:g.52210_52221del, NG_021194.1:g.52213_52221del, NG_021194.1:g.52214_52221del, NG_021194.1:g.52215_52221del, NG_021194.1:g.52217_52221del, NG_021194.1:g.52218_52221del, NG_021194.1:g.52219_52221del, NG_021194.1:g.52220_52221del, NG_021194.1:g.52221del, NG_021194.1:g.52221dup, NG_021194.1:g.52220_52221dup, NG_021194.1:g.52219_52221dup, NG_021194.1:g.52218_52221dup, NG_021194.1:g.52216_52221dup, NG_021194.1:g.52215_52221dup, NG_021194.1:g.52213_52221dup, NG_021194.1:g.52212_52221dup, NG_021194.1:g.52211_52221dup, NG_021194.1:g.52210_52221dup, NG_021194.1:g.52208_52221dup, NG_021194.1:g.52207_52221dup, NG_021194.1:g.52205_52221dup, NG_021194.1:g.52204_52221dup, NG_021194.1:g.52202_52221dup
11.
rs1491091081 has merged into rs142792546 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GC>-,GCGC,GCGCGC,GCGCGCGC,GCGCGCGCGC,GCGCGCGCGCGC,GCGCGCGCGCGCGC
[Show Flanks]
- Chromosome:
- 12:66204778
(GRCh38)
12:66598558
(GRCh37)
- Canonical SPDI:
- NC_000012.12:66204775:GCGC:GC,NC_000012.12:66204775:GCGC:GCGCGC,NC_000012.12:66204775:GCGC:GCGCGCGC,NC_000012.12:66204775:GCGC:GCGCGCGCGC,NC_000012.12:66204775:GCGC:GCGCGCGCGCGC,NC_000012.12:66204775:GCGC:GCGCGCGCGCGCGC,NC_000012.12:66204775:GCGC:GCGCGCGCGCGCGCGC
- Gene:
- IRAK3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GCGCGCGC=0./0
(
ALFA)
GCGCGCGCGCGC=0.000004/1
(TOPMED)
-=0.000565/1
(Korea1K)
-=0.000955/15
(TOMMO)
-=0.004505/20
(Estonian)
- HGVS:
NC_000012.12:g.66204776GC[1], NC_000012.12:g.66204776GC[3], NC_000012.12:g.66204776GC[4], NC_000012.12:g.66204776GC[5], NC_000012.12:g.66204776GC[6], NC_000012.12:g.66204776GC[7], NC_000012.12:g.66204776GC[8], NC_000012.11:g.66598556GC[1], NC_000012.11:g.66598556GC[3], NC_000012.11:g.66598556GC[4], NC_000012.11:g.66598556GC[5], NC_000012.11:g.66598556GC[6], NC_000012.11:g.66598556GC[7], NC_000012.11:g.66598556GC[8], NG_021194.1:g.20579GC[1], NG_021194.1:g.20579GC[3], NG_021194.1:g.20579GC[4], NG_021194.1:g.20579GC[5], NG_021194.1:g.20579GC[6], NG_021194.1:g.20579GC[7], NG_021194.1:g.20579GC[8]
12.
rs1491041236 has merged into rs35465959 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAA,AAAAA
[Show Flanks]
- Chromosome:
- 12:66190398
(GRCh38)
12:66584178
(GRCh37)
- Canonical SPDI:
- NC_000012.12:66190387:AAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:66190387:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:66190387:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:66190387:AAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:66190387:AAAAAAAAAAAA:AAAAAAAAAAAAAAA
- Gene:
- IRAK3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.2608/1012
(1000Genomes)
- HGVS:
NC_000012.12:g.66190398_66190399del, NC_000012.12:g.66190399del, NC_000012.12:g.66190399dup, NC_000012.12:g.66190398_66190399dup, NC_000012.12:g.66190397_66190399dup, NC_000012.11:g.66584178_66584179del, NC_000012.11:g.66584179del, NC_000012.11:g.66584179dup, NC_000012.11:g.66584178_66584179dup, NC_000012.11:g.66584177_66584179dup, NG_021194.1:g.6201_6202del, NG_021194.1:g.6202del, NG_021194.1:g.6202dup, NG_021194.1:g.6201_6202dup, NG_021194.1:g.6200_6202dup
13.
rs1491030272 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 12:66205290
(GRCh38)
12:66599070
(GRCh37)
- Canonical SPDI:
- NC_000012.12:66205289:TT:
- Gene:
- IRAK3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000071/1
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000015/4
(TOPMED)
- HGVS:
14.
rs1490920492 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 12:66238714
(GRCh38)
12:66632494
(GRCh37)
- Canonical SPDI:
- NC_000012.12:66238713:C:G
- Gene:
- IRAK3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000023/6
(TOPMED)
- HGVS:
15.
rs1490814914 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 12:66246675
(GRCh38)
12:66640455
(GRCh37)
- Canonical SPDI:
- NC_000012.12:66246674:A:C,NC_000012.12:66246674:A:G
- Gene:
- IRAK3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
16.
rs1490811020 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-,AA
[Show Flanks]
- Chromosome:
- 12:66235763
(GRCh38)
12:66629543
(GRCh37)
- Canonical SPDI:
- NC_000012.12:66235762:AAAAAAA:AAAAAA,NC_000012.12:66235762:AAAAAAA:AAAAAAAA
- Gene:
- IRAK3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAA=0.000447/2
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000156/1
(1000Genomes)
-=0.000446/2
(Estonian)
- HGVS:
17.
rs1490759608 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 12:66238256
(GRCh38)
12:66632036
(GRCh37)
- Canonical SPDI:
- NC_000012.12:66238255:G:T
- Gene:
- IRAK3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000023/6
(TOPMED)
- HGVS:
18.
rs1490747248 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:66197261
(GRCh38)
12:66591041
(GRCh37)
- Canonical SPDI:
- NC_000012.12:66197260:G:A
- Gene:
- IRAK3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000019/5
(TOPMED)
A=0.004673/1
(Vietnamese)
- HGVS:
19.
rs1490709056 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 12:66200107
(GRCh38)
12:66593887
(GRCh37)
- Canonical SPDI:
- NC_000012.12:66200106:T:A,NC_000012.12:66200106:T:C
- Gene:
- IRAK3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
20.
rs1490703917 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:66189667
(GRCh38)
12:66583447
(GRCh37)
- Canonical SPDI:
- NC_000012.12:66189666:G:A
- Gene:
- IRAK3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS: