Links from Gene
Items: 1 to 20 of 1000
1.
rs1491512824 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GT
[Show Flanks]
- Chromosome:
- 5:163519719
(GRCh38)
5:162946726
(GRCh37)
- Canonical SPDI:
- NC_000005.10:163519719:T:TGT
- Gene:
- MAT2B (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TGT=0./0
(
ALFA)
TG=0.01323/5
(GnomAD)
- HGVS:
2.
rs1491472621 has merged into rs66978639 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 5:163515781
(GRCh38)
5:162942787
(GRCh37)
- Canonical SPDI:
- NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- MAT2B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000005.10:g.163515781_163515796del, NC_000005.10:g.163515782_163515796del, NC_000005.10:g.163515783_163515796del, NC_000005.10:g.163515784_163515796del, NC_000005.10:g.163515785_163515796del, NC_000005.10:g.163515786_163515796del, NC_000005.10:g.163515787_163515796del, NC_000005.10:g.163515788_163515796del, NC_000005.10:g.163515789_163515796del, NC_000005.10:g.163515790_163515796del, NC_000005.10:g.163515791_163515796del, NC_000005.10:g.163515792_163515796del, NC_000005.10:g.163515793_163515796del, NC_000005.10:g.163515794_163515796del, NC_000005.10:g.163515795_163515796del, NC_000005.10:g.163515796del, NC_000005.10:g.163515796dup, NC_000005.10:g.163515795_163515796dup, NC_000005.10:g.163515794_163515796dup, NC_000005.10:g.163515793_163515796dup, NC_000005.10:g.163515792_163515796dup, NC_000005.10:g.163515791_163515796dup, NC_000005.10:g.163515790_163515796dup, NC_000005.10:g.163515789_163515796dup, NC_000005.10:g.163515788_163515796dup, NC_000005.10:g.163515787_163515796dup, NC_000005.10:g.163515786_163515796dup, NC_000005.10:g.163515785_163515796dup, NC_000005.10:g.163515784_163515796dup, NC_000005.10:g.163515783_163515796dup, NC_000005.10:g.163515782_163515796dup, NC_000005.10:g.163515781_163515796dup, NC_000005.10:g.163515779_163515796dup, NC_000005.10:g.163515778_163515796dup, NC_000005.10:g.163515777_163515796dup, NC_000005.10:g.163515796_163515797insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.163515796_163515797insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.162942787_162942802del, NC_000005.9:g.162942788_162942802del, NC_000005.9:g.162942789_162942802del, NC_000005.9:g.162942790_162942802del, NC_000005.9:g.162942791_162942802del, NC_000005.9:g.162942792_162942802del, NC_000005.9:g.162942793_162942802del, NC_000005.9:g.162942794_162942802del, NC_000005.9:g.162942795_162942802del, NC_000005.9:g.162942796_162942802del, NC_000005.9:g.162942797_162942802del, NC_000005.9:g.162942798_162942802del, NC_000005.9:g.162942799_162942802del, NC_000005.9:g.162942800_162942802del, NC_000005.9:g.162942801_162942802del, NC_000005.9:g.162942802del, NC_000005.9:g.162942802dup, NC_000005.9:g.162942801_162942802dup, NC_000005.9:g.162942800_162942802dup, NC_000005.9:g.162942799_162942802dup, NC_000005.9:g.162942798_162942802dup, NC_000005.9:g.162942797_162942802dup, NC_000005.9:g.162942796_162942802dup, NC_000005.9:g.162942795_162942802dup, NC_000005.9:g.162942794_162942802dup, NC_000005.9:g.162942793_162942802dup, NC_000005.9:g.162942792_162942802dup, NC_000005.9:g.162942791_162942802dup, NC_000005.9:g.162942790_162942802dup, NC_000005.9:g.162942789_162942802dup, NC_000005.9:g.162942788_162942802dup, NC_000005.9:g.162942787_162942802dup, NC_000005.9:g.162942785_162942802dup, NC_000005.9:g.162942784_162942802dup, NC_000005.9:g.162942783_162942802dup, NC_000005.9:g.162942802_162942803insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.162942802_162942803insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
3.
rs1491268366 has merged into rs71837440 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 5:163519730
(GRCh38)
5:162946736
(GRCh37)
- Canonical SPDI:
- NC_000005.10:163519718:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:163519718:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:163519718:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:163519718:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:163519718:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:163519718:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:163519718:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:163519718:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:163519718:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:163519718:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:163519718:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:163519718:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:163519718:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:163519718:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:163519718:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- MAT2B (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
-=0.3145/1575
(1000Genomes)
- HGVS:
NC_000005.10:g.163519730_163519736del, NC_000005.10:g.163519732_163519736del, NC_000005.10:g.163519733_163519736del, NC_000005.10:g.163519734_163519736del, NC_000005.10:g.163519735_163519736del, NC_000005.10:g.163519736del, NC_000005.10:g.163519736dup, NC_000005.10:g.163519735_163519736dup, NC_000005.10:g.163519734_163519736dup, NC_000005.10:g.163519733_163519736dup, NC_000005.10:g.163519732_163519736dup, NC_000005.10:g.163519731_163519736dup, NC_000005.10:g.163519730_163519736dup, NC_000005.10:g.163519728_163519736dup, NC_000005.10:g.163519721_163519736dup, NC_000005.9:g.162946736_162946742del, NC_000005.9:g.162946738_162946742del, NC_000005.9:g.162946739_162946742del, NC_000005.9:g.162946740_162946742del, NC_000005.9:g.162946741_162946742del, NC_000005.9:g.162946742del, NC_000005.9:g.162946742dup, NC_000005.9:g.162946741_162946742dup, NC_000005.9:g.162946740_162946742dup, NC_000005.9:g.162946739_162946742dup, NC_000005.9:g.162946738_162946742dup, NC_000005.9:g.162946737_162946742dup, NC_000005.9:g.162946736_162946742dup, NC_000005.9:g.162946734_162946742dup, NC_000005.9:g.162946727_162946742dup
4.
rs1491265503 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTTTT
[Show Flanks]
- Chromosome:
- 5:163515771
(GRCh38)
5:162942778
(GRCh37)
- Canonical SPDI:
- NC_000005.10:163515771:TTTT:TTTTCTTTT
- Gene:
- MAT2B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTCTTTT=0./0
(
ALFA)
TTTTC=0.0002/5
(TOMMO)
TTTTC=0.00112/2
(Korea1K)
- HGVS:
6.
rs1490904820 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 5:163510523
(GRCh38)
5:162937529
(GRCh37)
- Canonical SPDI:
- NC_000005.10:163510522:T:C
- Gene:
- MAT2B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000019/5
(TOPMED)
C=0.000021/3
(GnomAD)
C=0.000035/1
(TOMMO)
C=0.000342/1
(KOREAN)
- HGVS:
7.
rs1490899944 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTTTTTTTG>-
[Show Flanks]
- Chromosome:
- 5:163508611
(GRCh38)
5:162935617
(GRCh37)
- Canonical SPDI:
- NC_000005.10:163508602:TTTTTTTGGTTTTTTTG:TTTTTTTG
- Gene:
- MAT2B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTG=0.000285/4
(
ALFA)
-=0.00011/29
(TOPMED)
-=0.000136/19
(GnomAD)
- HGVS:
8.
rs1490773257 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAG>-
[Show Flanks]
- Chromosome:
- 5:163510767
(GRCh38)
5:162937773
(GRCh37)
- Canonical SPDI:
- NC_000005.10:163510764:AGAAAG:AG
- Gene:
- MAT2B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AG=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
9.
rs1490610241 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:163510438
(GRCh38)
5:162937444
(GRCh37)
- Canonical SPDI:
- NC_000005.10:163510437:C:T
- Gene:
- MAT2B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/1
(GnomAD)
- HGVS:
10.
rs1490472144 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 5:163502504
(GRCh38)
5:162929510
(GRCh37)
- Canonical SPDI:
- NC_000005.10:163502503:A:C
- Gene:
- MAT2B (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000015/4
(TOPMED)
- HGVS:
11.
rs1490417257 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 5:163503537
(GRCh38)
5:162930543
(GRCh37)
- Canonical SPDI:
- NC_000005.10:163503536:G:A,NC_000005.10:163503536:G:T
- Gene:
- MAT2B (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
12.
rs1490415614 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:163511412
(GRCh38)
5:162938418
(GRCh37)
- Canonical SPDI:
- NC_000005.10:163511411:C:T
- Gene:
- MAT2B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000054/1
(
ALFA)
T=0.000022/3
(GnomAD)
T=0.000026/7
(TOPMED)
T=0.000223/1
(Estonian)
- HGVS:
13.
rs1490411358 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:163509503
(GRCh38)
5:162936509
(GRCh37)
- Canonical SPDI:
- NC_000005.10:163509502:C:T
- Gene:
- MAT2B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
14.
rs1490281215 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 5:163511202
(GRCh38)
5:162938208
(GRCh37)
- Canonical SPDI:
- NC_000005.10:163511201:A:G
- Gene:
- MAT2B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
15.
rs1490077357 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 5:163504556
(GRCh38)
5:162931562
(GRCh37)
- Canonical SPDI:
- NC_000005.10:163504555:A:G
- Gene:
- MAT2B (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_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.
rs1489982032 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 5:163502970
(GRCh38)
5:162929976
(GRCh37)
- Canonical SPDI:
- NC_000005.10:163502969:A:G
- Gene:
- MAT2B (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
17.
rs1489915714 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AATT>-
[Show Flanks]
- Chromosome:
- 5:163504099
(GRCh38)
5:162931105
(GRCh37)
- Canonical SPDI:
- NC_000005.10:163504094:AATTAATT:AATT
- Gene:
- MAT2B (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
AATTAATT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
18.
rs1489867705 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 5:163517399
(GRCh38)
5:162944405
(GRCh37)
- Canonical SPDI:
- NC_000005.10:163517398:A:G
- Gene:
- MAT2B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
19.
rs1489771882 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 5:163519167
(GRCh38)
5:162946173
(GRCh37)
- Canonical SPDI:
- NC_000005.10:163519166:T:
- Gene:
- MAT2B (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
20.
rs1489739188 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 5:163512277
(GRCh38)
5:162939283
(GRCh37)
- Canonical SPDI:
- NC_000005.10:163512276:A:G
- Gene:
- MAT2B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000023/6
(TOPMED)
G=0.000036/5
(GnomAD)
- HGVS: