Links from Gene
Items: 1 to 20 of 28165
1.
rs1491503247 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TTA
[Show Flanks]
- Chromosome:
- 12:82435024
(GRCh38)
12:82828804
(GRCh37)
- Canonical SPDI:
- NC_000012.12:82435024:TTA:TTATTA
- Gene:
- METTL25 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTATTA=0./0
(
ALFA)
TTA=0.000007/1
(GnomAD)
TTA=0.000011/3
(TOPMED)
- HGVS:
2.
rs1491481856 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 12:82461260
(GRCh38)
12:82855039
(GRCh37)
- Canonical SPDI:
- NC_000012.12:82461254:TATATAT:TATAT
- Gene:
- METTL25 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATAT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
3.
rs1491447131 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 12:82381473
(GRCh38)
12:82775252
(GRCh37)
- Canonical SPDI:
- NC_000012.12:82381472:AT:
- Gene:
- METTL25 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000008/2
(TOPMED)
- HGVS:
4.
rs1491333930 has merged into rs144093930 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA
[Show Flanks]
- Chromosome:
- 12:82375451
(GRCh38)
12:82769230
(GRCh37)
- Canonical SPDI:
- NC_000012.12:82375442:AAAAAAAAAAA:AAAAAAAA,NC_000012.12:82375442:AAAAAAAAAAA:AAAAAAAAA,NC_000012.12:82375442:AAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:82375442:AAAAAAAAAAA:AAAAAAAAAAAA
- Gene:
- METTL25 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
A=0.000071/1
(TOMMO)
A=0.00173/2
(Korea1K)
-=0.025/1
(GENOME_DK)
-=0.056338/16
(NorthernSweden)
-=0.0646/17099
(TOPMED)
- HGVS:
NC_000012.12:g.82375451_82375453del, NC_000012.12:g.82375452_82375453del, NC_000012.12:g.82375453del, NC_000012.12:g.82375453dup, NC_000012.11:g.82769230_82769232del, NC_000012.11:g.82769231_82769232del, NC_000012.11:g.82769232del, NC_000012.11:g.82769232dup, NG_053173.2:g.22046_22048del, NG_053173.2:g.22047_22048del, NG_053173.2:g.22048del, NG_053173.2:g.22048dup
5.
rs1491326063 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 12:82461255
(GRCh38)
12:82855035
(GRCh37)
- Canonical SPDI:
- NC_000012.12:82461255:A:AA
- Gene:
- METTL25 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
6.
rs1491307595 has merged into rs60688459 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT,TTTTTT
[Show Flanks]
- Chromosome:
- 12:82429388
(GRCh38)
12:82823167
(GRCh37)
- Canonical SPDI:
- NC_000012.12:82429376:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:82429376:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:82429376:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:82429376:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:82429376:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:82429376:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
- Gene:
- METTL25 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0.0125/55
(
ALFA)
TT=0.0505/253
(1000Genomes)
- HGVS:
NC_000012.12:g.82429388_82429391del, NC_000012.12:g.82429389_82429391del, NC_000012.12:g.82429390_82429391del, NC_000012.12:g.82429391del, NC_000012.12:g.82429391dup, NC_000012.12:g.82429390_82429391dup, NC_000012.11:g.82823167_82823170del, NC_000012.11:g.82823168_82823170del, NC_000012.11:g.82823169_82823170del, NC_000012.11:g.82823170del, NC_000012.11:g.82823170dup, NC_000012.11:g.82823169_82823170dup, NG_053173.2:g.75983_75986del, NG_053173.2:g.75984_75986del, NG_053173.2:g.75985_75986del, NG_053173.2:g.75986del, NG_053173.2:g.75986dup, NG_053173.2:g.75985_75986dup
7.
rs1491251891 has merged into rs72397374 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-,GTGT
[Show Flanks]
- Chromosome:
- 12:82380435
(GRCh38)
12:82774214
(GRCh37)
- Canonical SPDI:
- NC_000012.12:82380433:TGT:T,NC_000012.12:82380433:TGT:TGTGT
- Gene:
- METTL25 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGT=0.0625/359
(
ALFA)
TG=0.004/67
(TOMMO)
TG=0.00943/2
(Vietnamese)
TG=0.02305/23
(GoNL)
TG=0.02667/16
(NorthernSweden)
TG=0.02879/129
(Estonian)
TG=0.0445/165
(TWINSUK)
TG=0.04567/176
(ALSPAC)
TG=0.05/2
(GENOME_DK)
- HGVS:
11.
rs1491076788 has merged into rs58370071 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT,TTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 12:82438526
(GRCh38)
12:82832305
(GRCh37)
- Canonical SPDI:
- NC_000012.12:82438512:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:82438512:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:82438512:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:82438512:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:82438512:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:82438512:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:82438512:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:82438512:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:82438512:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:82438512:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- METTL25 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.25/10
(GENOME_DK)
- HGVS:
NC_000012.12:g.82438526_82438527del, NC_000012.12:g.82438527del, NC_000012.12:g.82438527dup, NC_000012.12:g.82438526_82438527dup, NC_000012.12:g.82438525_82438527dup, NC_000012.12:g.82438521_82438527dup, NC_000012.12:g.82438519_82438527dup, NC_000012.12:g.82438516_82438527dup, NC_000012.12:g.82438514_82438527dup, NC_000012.12:g.82438527_82438528insTTTTTTTTTTTTTTTTTT, NC_000012.11:g.82832305_82832306del, NC_000012.11:g.82832306del, NC_000012.11:g.82832306dup, NC_000012.11:g.82832305_82832306dup, NC_000012.11:g.82832304_82832306dup, NC_000012.11:g.82832300_82832306dup, NC_000012.11:g.82832298_82832306dup, NC_000012.11:g.82832295_82832306dup, NC_000012.11:g.82832293_82832306dup, NC_000012.11:g.82832306_82832307insTTTTTTTTTTTTTTTTTT, NG_053173.2:g.85121_85122del, NG_053173.2:g.85122del, NG_053173.2:g.85122dup, NG_053173.2:g.85121_85122dup, NG_053173.2:g.85120_85122dup, NG_053173.2:g.85116_85122dup, NG_053173.2:g.85114_85122dup, NG_053173.2:g.85111_85122dup, NG_053173.2:g.85109_85122dup, NG_053173.2:g.85122_85123insTTTTTTTTTTTTTTTTTT
12.
rs1491076504 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 12:82375461
(GRCh38)
12:82769240
(GRCh37)
- Canonical SPDI:
- NC_000012.12:82375452:ATATATATAT:ATATATAT
- Gene:
- METTL25 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
ATATATAT=0.000253/3
(
ALFA)
-=0.000351/49
(GnomAD)
- HGVS:
13.
rs1491071781 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 12:82384397
(GRCh38)
12:82778176
(GRCh37)
- Canonical SPDI:
- NC_000012.12:82384395:TGT:T
- Gene:
- METTL25 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.00008/1
(
ALFA)
-=0.00019/17
(GnomAD)
- HGVS:
14.
rs1491058723 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-,CTCT
[Show Flanks]
- Chromosome:
- 12:82387734
(GRCh38)
12:82781513
(GRCh37)
- Canonical SPDI:
- NC_000012.12:82387731:CTCT:CT,NC_000012.12:82387731:CTCT:CTCTCT
- Gene:
- METTL25 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTCT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
17.
rs1490967589 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 12:82469489
(GRCh38)
12:82863268
(GRCh37)
- Canonical SPDI:
- NC_000012.12:82469488:T:G
- Gene:
- METTL25 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
18.
rs1490948762 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:82454567
(GRCh38)
12:82848346
(GRCh37)
- Canonical SPDI:
- NC_000012.12:82454566:G:A
- Gene:
- METTL25 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000019/5
(TOPMED)
A=0.000156/1
(1000Genomes)
A=0.000546/1
(Korea1K)
- HGVS:
19.
rs1490912887 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 12:82411450
(GRCh38)
12:82805229
(GRCh37)
- Canonical SPDI:
- NC_000012.12:82411449:G:C
- Gene:
- METTL25 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
20.
rs1490853767 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 12:82437656
(GRCh38)
12:82831435
(GRCh37)
- Canonical SPDI:
- NC_000012.12:82437655:A:C
- Gene:
- METTL25 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS: