Links from Gene
Items: 1 to 20 of 1000
1.
rs1491584811 has merged into rs374144791 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT
[Show Flanks]
- Chromosome:
- 12:50924524
(GRCh38)
12:51318307
(GRCh37)
- Canonical SPDI:
- NC_000012.12:50924516:TTTTTTTTTTTTT:TTTTTTT,NC_000012.12:50924516:TTTTTTTTTTTTT:TTTTTTTT,NC_000012.12:50924516:TTTTTTTTTTTTT:TTTTTTTTT,NC_000012.12:50924516:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:50924516:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:50924516:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:50924516:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:50924516:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:50924516:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
- Gene:
- METTL7A (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000012.12:g.50924524_50924529del, NC_000012.12:g.50924525_50924529del, NC_000012.12:g.50924526_50924529del, NC_000012.12:g.50924527_50924529del, NC_000012.12:g.50924528_50924529del, NC_000012.12:g.50924529del, NC_000012.12:g.50924529dup, NC_000012.12:g.50924528_50924529dup, NC_000012.12:g.50924527_50924529dup, NC_000012.11:g.51318307_51318312del, NC_000012.11:g.51318308_51318312del, NC_000012.11:g.51318309_51318312del, NC_000012.11:g.51318310_51318312del, NC_000012.11:g.51318311_51318312del, NC_000012.11:g.51318312del, NC_000012.11:g.51318312dup, NC_000012.11:g.51318311_51318312dup, NC_000012.11:g.51318310_51318312dup
3.
rs1491329768 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 12:50924529
(GRCh38)
12:51318312
(GRCh37)
- Canonical SPDI:
- NC_000012.12:50924528:TA:
- Gene:
- METTL7A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00042/5
(
ALFA)
-=0.00044/24
(GnomAD)
- HGVS:
4.
rs1491313815 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TA,TAA,TAAA,TAAAA
[Show Flanks]
- Chromosome:
- 12:50924529
(GRCh38)
12:51318313
(GRCh37)
- Canonical SPDI:
- NC_000012.12:50924529::TA,NC_000012.12:50924529::TAA,NC_000012.12:50924529::TAAA,NC_000012.12:50924529::TAAAA
- Gene:
- METTL7A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TAAA=0./0
(
ALFA)
TAAA=0.000004/1
(TOPMED)
- HGVS:
7.
rs1491203006 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 12:50923034
(GRCh38)
12:51316818
(GRCh37)
- Canonical SPDI:
- NC_000012.12:50923034::T
- Gene:
- METTL7A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
8.
rs1491128475 has merged into rs72460124 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 12:50923460
(GRCh38)
12:51317243
(GRCh37)
- Canonical SPDI:
- NC_000012.12:50923452:TTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000012.12:50923452:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:50923452:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:50923452:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:50923452:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:50923452:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:50923452:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:50923452:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:50923452:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:50923452:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:50923452:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50923452:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50923452:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- METTL7A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTT=0./0
(
ALFA)
T=0.3536/1771
(1000Genomes)
- HGVS:
NC_000012.12:g.50923460_50923472del, NC_000012.12:g.50923464_50923472del, NC_000012.12:g.50923465_50923472del, NC_000012.12:g.50923466_50923472del, NC_000012.12:g.50923467_50923472del, NC_000012.12:g.50923468_50923472del, NC_000012.12:g.50923469_50923472del, NC_000012.12:g.50923470_50923472del, NC_000012.12:g.50923471_50923472del, NC_000012.12:g.50923472del, NC_000012.12:g.50923472dup, NC_000012.12:g.50923471_50923472dup, NC_000012.12:g.50923472_50923473insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.51317243_51317255del, NC_000012.11:g.51317247_51317255del, NC_000012.11:g.51317248_51317255del, NC_000012.11:g.51317249_51317255del, NC_000012.11:g.51317250_51317255del, NC_000012.11:g.51317251_51317255del, NC_000012.11:g.51317252_51317255del, NC_000012.11:g.51317253_51317255del, NC_000012.11:g.51317254_51317255del, NC_000012.11:g.51317255del, NC_000012.11:g.51317255dup, NC_000012.11:g.51317254_51317255dup, NC_000012.11:g.51317255_51317256insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
9.
rs1491110335 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 12:50923451
(GRCh38)
12:51317235
(GRCh37)
- Canonical SPDI:
- NC_000012.12:50923451:C:CC
- Gene:
- METTL7A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
CC=0./0
(
ALFA)
C=0.00002/2
(GnomAD)
- HGVS:
10.
rs1490298170 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:50929146
(GRCh38)
12:51322929
(GRCh37)
- Canonical SPDI:
- NC_000012.12:50929145:G:A
- Gene:
- METTL7A (Varview), HIGD1C (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_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:
11.
rs1490104860 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 12:50928145
(GRCh38)
12:51321928
(GRCh37)
- Canonical SPDI:
- NC_000012.12:50928144:T:G
- Gene:
- METTL7A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
13.
rs1489763985 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 12:50925665
(GRCh38)
12:51319448
(GRCh37)
- Canonical SPDI:
- NC_000012.12:50925664:T:A
- Gene:
- METTL7A (Varview)
- Functional Consequence:
- 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:
14.
rs1489669884 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 12:50922437
(GRCh38)
12:51316220
(GRCh37)
- Canonical SPDI:
- NC_000012.12:50922436:C:A,NC_000012.12:50922436:C:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000142/2
(
ALFA)
T=0.000036/5
(GnomAD)
T=0.000038/10
(TOPMED)
A=0.00006/1
(TOMMO)
- HGVS:
15.
rs1489290132 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:50929337
(GRCh38)
12:51323120
(GRCh37)
- Canonical SPDI:
- NC_000012.12:50929336:A:G
- Gene:
- METTL7A (Varview), HIGD1C (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
16.
rs1489209250 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 12:50921821
(GRCh38)
12:51315604
(GRCh37)
- Canonical SPDI:
- NC_000012.12:50921820:C:G,NC_000012.12:50921820:C:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
17.
rs1489168790 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:50929727
(GRCh38)
12:51323510
(GRCh37)
- Canonical SPDI:
- NC_000012.12:50929726:C:T
- Gene:
- METTL7A (Varview), HIGD1C (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
19.
rs1488761519 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 12:50928676
(GRCh38)
12:51322459
(GRCh37)
- Canonical SPDI:
- NC_000012.12:50928675:T:G
- Gene:
- METTL7A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS: