Links from Gene
Items: 1 to 20 of 1000
1.
rs1491583016 has merged into rs892590575 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTT>-,TT,TTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 9:129058503
(GRCh38)
9:131820782
(GRCh37)
- Canonical SPDI:
- NC_000009.12:129058496:TTTTTTTTTTTTTTTTTTTTT:TTTTTT,NC_000009.12:129058496:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000009.12:129058496:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000009.12:129058496:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:129058496:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:129058496:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:129058496:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:129058496:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:129058496:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:129058496:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:129058496:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:129058496:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:129058496:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:129058496:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:129058496:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:129058496:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:129058496:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:129058496:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:129058496:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:129058496:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- MIGA2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
NC_000009.12:g.129058503_129058517del, NC_000009.12:g.129058505_129058517del, NC_000009.12:g.129058507_129058517del, NC_000009.12:g.129058510_129058517del, NC_000009.12:g.129058511_129058517del, NC_000009.12:g.129058513_129058517del, NC_000009.12:g.129058514_129058517del, NC_000009.12:g.129058515_129058517del, NC_000009.12:g.129058516_129058517del, NC_000009.12:g.129058517del, NC_000009.12:g.129058517dup, NC_000009.12:g.129058516_129058517dup, NC_000009.12:g.129058515_129058517dup, NC_000009.12:g.129058514_129058517dup, NC_000009.12:g.129058513_129058517dup, NC_000009.12:g.129058512_129058517dup, NC_000009.12:g.129058511_129058517dup, NC_000009.12:g.129058510_129058517dup, NC_000009.12:g.129058509_129058517dup, NC_000009.12:g.129058498_129058517dup, NC_000009.11:g.131820782_131820796del, NC_000009.11:g.131820784_131820796del, NC_000009.11:g.131820786_131820796del, NC_000009.11:g.131820789_131820796del, NC_000009.11:g.131820790_131820796del, NC_000009.11:g.131820792_131820796del, NC_000009.11:g.131820793_131820796del, NC_000009.11:g.131820794_131820796del, NC_000009.11:g.131820795_131820796del, NC_000009.11:g.131820796del, NC_000009.11:g.131820796dup, NC_000009.11:g.131820795_131820796dup, NC_000009.11:g.131820794_131820796dup, NC_000009.11:g.131820793_131820796dup, NC_000009.11:g.131820792_131820796dup, NC_000009.11:g.131820791_131820796dup, NC_000009.11:g.131820790_131820796dup, NC_000009.11:g.131820789_131820796dup, NC_000009.11:g.131820788_131820796dup, NC_000009.11:g.131820777_131820796dup
2.
rs1491382317 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 9:129039174
(GRCh38)
9:131801454
(GRCh37)
- Canonical SPDI:
- NC_000009.12:129039174::G
- Gene:
- MIGA2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0.00128/155
(GnomAD)
G=0.001667/1
(NorthernSweden)
- HGVS:
3.
rs1491301946 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T
[Show Flanks]
- Chromosome:
- 9:129039175
(GRCh38)
9:131801454
(GRCh37)
- Canonical SPDI:
- NC_000009.12:129039173:TTT:T,NC_000009.12:129039173:TTT:TT
- Gene:
- MIGA2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.001947/227
(GnomAD)
-=0.00298/49
(TOMMO)
- HGVS:
4.
rs1491186730 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTT
[Show Flanks]
- Chromosome:
- 9:129058497
(GRCh38)
9:131820777
(GRCh37)
- Canonical SPDI:
- NC_000009.12:129058497:TT:TTCTT
- Gene:
- MIGA2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TTCTT=0./0
(
ALFA)
TTC=0.000004/1
(TOPMED)
- HGVS:
5.
rs1491005458 has merged into rs530280541 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTATAAGAGTCTTATTTCTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTATGATAATATATTTATTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTGTTAAGAGATTGTGTGTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTGTTTCTGATTTCTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 9:129062053
(GRCh38)
9:131824332
(GRCh37)
- Canonical SPDI:
- NC_000009.12:129062039:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:129062039:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:129062039:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:129062039:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:129062039:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:129062039:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:129062039:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:129062039:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:129062039:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:129062039:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:129062039:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTATAAGAGTCTTATTTCTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:129062039:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:129062039:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTATGATAATATATTTATTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:129062039:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTGTTAAGAGATTGTGTGTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:129062039:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTGTTTCTGATTTCTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:129062039:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:129062039:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- MIGA2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
NC_000009.12:g.129062053_129062056del, NC_000009.12:g.129062055_129062056del, NC_000009.12:g.129062056del, NC_000009.12:g.129062056dup, NC_000009.12:g.129062055_129062056dup, NC_000009.12:g.129062054_129062056dup, NC_000009.12:g.129062052_129062056dup, NC_000009.12:g.129062051_129062056dup, NC_000009.12:g.129062050_129062056dup, NC_000009.12:g.129062049_129062056dup, NC_000009.12:g.129062040_129062056T[25]ATAAGAGTCTTATTTCTTTTTTTTTTTTTTTTTTTTT[1], NC_000009.12:g.129062048_129062056dup, NC_000009.12:g.129062040_129062056T[26]ATGATAATATATTTATTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000009.12:g.129062040_129062056T[26]GTTAAGAGATTGTGTGTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000009.12:g.129062040_129062056T[26]GTTTCTGATTTCTTTTTTTTTTTTTTTTTTTTTT[1], NC_000009.12:g.129062047_129062056dup, NC_000009.12:g.129062045_129062056dup, NC_000009.11:g.131824332_131824335del, NC_000009.11:g.131824334_131824335del, NC_000009.11:g.131824335del, NC_000009.11:g.131824335dup, NC_000009.11:g.131824334_131824335dup, NC_000009.11:g.131824333_131824335dup, NC_000009.11:g.131824331_131824335dup, NC_000009.11:g.131824330_131824335dup, NC_000009.11:g.131824329_131824335dup, NC_000009.11:g.131824328_131824335dup, NC_000009.11:g.131824319_131824335T[25]ATAAGAGTCTTATTTCTTTTTTTTTTTTTTTTTTTTT[1], NC_000009.11:g.131824327_131824335dup, NC_000009.11:g.131824319_131824335T[26]ATGATAATATATTTATTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000009.11:g.131824319_131824335T[26]GTTAAGAGATTGTGTGTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000009.11:g.131824319_131824335T[26]GTTTCTGATTTCTTTTTTTTTTTTTTTTTTTTTT[1], NC_000009.11:g.131824326_131824335dup, NC_000009.11:g.131824324_131824335dup
6.
rs1490933095 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 9:129049196
(GRCh38)
9:131811475
(GRCh37)
- Canonical SPDI:
- NC_000009.12:129049195:C:A
- Gene:
- MIGA2 (Varview)
- Functional Consequence:
- genic_upstream_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:
8.
rs1490699600 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:129056323
(GRCh38)
9:131818602
(GRCh37)
- Canonical SPDI:
- NC_000009.12:129056322:A:G
- Gene:
- MIGA2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
9.
rs1490465124 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:129069732
(GRCh38)
9:131832011
(GRCh37)
- Canonical SPDI:
- NC_000009.12:129069731:A:G
- Gene:
- MIGA2 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,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:
10.
rs1490461011 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:129047424
(GRCh38)
9:131809703
(GRCh37)
- Canonical SPDI:
- NC_000009.12:129047423:T:C
- Gene:
- MIGA2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS:
11.
rs1490350396 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 9:129069165
(GRCh38)
9:131831444
(GRCh37)
- Canonical SPDI:
- NC_000009.12:129069164:G:C
- Gene:
- MIGA2 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
12.
rs1490243606 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 9:129042794
(GRCh38)
9:131805073
(GRCh37)
- Canonical SPDI:
- NC_000009.12:129042793:G:A,NC_000009.12:129042793:G:T
- Gene:
- MIGA2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000035/1
(TOMMO)
- HGVS:
13.
rs1490179499 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:129057716
(GRCh38)
9:131819995
(GRCh37)
- Canonical SPDI:
- NC_000009.12:129057715:C:T
- Gene:
- MIGA2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000015/4
(TOPMED)
- HGVS:
14.
rs1490018421 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 9:129050412
(GRCh38)
9:131812691
(GRCh37)
- Canonical SPDI:
- NC_000009.12:129050411:TT:
- Gene:
- MIGA2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000071/1
(
ALFA)
-=0.000043/6
(GnomAD)
-=0.000045/12
(TOPMED)
- HGVS:
15.
rs1489976304 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AGGCC>-
[Show Flanks]
- Chromosome:
- 9:129070219
(GRCh38)
9:131832498
(GRCh37)
- Canonical SPDI:
- NC_000009.12:129070214:GGCCAGGCC:GGCC
- Gene:
- MIGA2 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGCC=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
16.
rs1489962425 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:129048271
(GRCh38)
9:131810550
(GRCh37)
- Canonical SPDI:
- NC_000009.12:129048270:G:A
- Gene:
- MIGA2 (Varview)
- Functional Consequence:
- genic_upstream_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:
17.
rs1489884690 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:129035477
(GRCh38)
9:131797756
(GRCh37)
- Canonical SPDI:
- NC_000009.12:129035476:C:T
- Gene:
- MIGA2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
19.
rs1489707028 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:129064453
(GRCh38)
9:131826732
(GRCh37)
- Canonical SPDI:
- NC_000009.12:129064452:C:T
- Gene:
- MIGA2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000034/9
(TOPMED)
T=0.000043/6
(GnomAD)
- HGVS:
20.
rs1489665440 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:129036773
(GRCh38)
9:131799052
(GRCh37)
- Canonical SPDI:
- NC_000009.12:129036772:G:A
- Gene:
- MIGA2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_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: