Links from Gene
Items: 1 to 20 of 2704
1.
rs1490929036 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 22:50271637
(GRCh38)
22:50710066
(GRCh37)
- Canonical SPDI:
- NC_000022.11:50271636:G:T
- Gene:
- MAPK11 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.00005/7
(GnomAD)
- HGVS:
2.
rs1490714015 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 22:50270798
(GRCh38)
22:50709227
(GRCh37)
- Canonical SPDI:
- NC_000022.11:50270797:G:A,NC_000022.11:50270797:G:C
- Gene:
- MAPK11 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
3.
rs1490611327 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:50263813
(GRCh38)
22:50702242
(GRCh37)
- Canonical SPDI:
- NC_000022.11:50263812:G:A
- Gene:
- MAPK11 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
NC_000022.11:g.50263813G>A, NC_000022.10:g.50702242G>A, NG_034042.1:g.11581C>T, NM_002751.7:c.*1135C>T, NM_002751.6:c.*1135C>T, NM_002751.5:c.*1135C>T, NR_110887.2:n.1401C>T, NR_110887.1:n.1414C>T, NM_138993.2:c.*218C>T, XM_047441447.1:c.*1135C>T, NM_138993.1:c.*218C>T
4.
rs1490437436 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:50271219
(GRCh38)
22:50709648
(GRCh37)
- Canonical SPDI:
- NC_000022.11:50271218:C:T
- Gene:
- MAPK11 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
6.
rs1489934338 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 22:50271965
(GRCh38)
22:50710394
(GRCh37)
- Canonical SPDI:
- NC_000022.11:50271964:C:G,NC_000022.11:50271964:C:T
- Gene:
- MAPK11 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
7.
rs1489883931 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 22:50271207
(GRCh38)
22:50709636
(GRCh37)
- Canonical SPDI:
- NC_000022.11:50271206:C:G,NC_000022.11:50271206:C:T
- Gene:
- MAPK11 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000026/7
(TOPMED)
- HGVS:
9.
rs1489579040 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 22:50271171
(GRCh38)
22:50709600
(GRCh37)
- Canonical SPDI:
- NC_000022.11:50271170:C:G
- Gene:
- MAPK11 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
G=0.000007/1
(GnomAD)
- HGVS:
10.
rs1489103726 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:50265762
(GRCh38)
22:50704191
(GRCh37)
- Canonical SPDI:
- NC_000022.11:50265761:C:T
- Gene:
- MAPK11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
12.
rs1488697699 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 22:50269813
(GRCh38)
22:50708242
(GRCh37)
- Canonical SPDI:
- NC_000022.11:50269812:C:G
- Gene:
- MAPK11 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000015/4
(TOPMED)
- HGVS:
13.
rs1488687429 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:50272023
(GRCh38)
22:50710452
(GRCh37)
- Canonical SPDI:
- NC_000022.11:50272022:C:T
- Gene:
- MAPK11 (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:
14.
rs1488624552 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 22:50269029
(GRCh38)
22:50707458
(GRCh37)
- Canonical SPDI:
- NC_000022.11:50269028:A:
- Gene:
- MAPK11 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000071/1
(
ALFA)
-=0.000014/2
(GnomAD)
-=0.000034/9
(TOPMED)
- HGVS:
15.
rs1487968168 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 22:50269754
(GRCh38)
22:50708183
(GRCh37)
- Canonical SPDI:
- NC_000022.11:50269753:C:A,NC_000022.11:50269753:C:T
- Gene:
- MAPK11 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
16.
rs1487927713 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TTTCC
[Show Flanks]
- Chromosome:
- 22:50263799
(GRCh38)
22:50702229
(GRCh37)
- Canonical SPDI:
- NC_000022.11:50263799:CCTTTCC:CCTTTCCTTTCC
- Gene:
- MAPK11 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCTTTCCTTTCC=0.000071/1
(
ALFA)
CCTTT=0.000004/1
(TOPMED)
CCTTT=0.000007/1
(GnomAD)
- HGVS:
NC_000022.11:g.50263802_50263806dup, NC_000022.10:g.50702231_50702235dup, NG_034042.1:g.11590_11594dup, NM_002751.7:c.*1144_*1148dup, NM_002751.6:c.*1144_*1148dup, NM_002751.5:c.*1144_*1148dup, NR_110887.2:n.1410_1414dup, NR_110887.1:n.1423_1427dup, NM_138993.2:c.*227_*231dup, XM_047441447.1:c.*1144_*1148dup, NM_138993.1:c.*227_*231dup
17.
rs1487874008 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 22:50264526
(GRCh38)
22:50702955
(GRCh37)
- Canonical SPDI:
- NC_000022.11:50264525:G:C
- Gene:
- MAPK11 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000014/2
(GnomAD)
C=0.000354/6
(TOMMO)
- HGVS:
18.
rs1487848072 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 22:50263352
(GRCh38)
22:50701781
(GRCh37)
- Canonical SPDI:
- NC_000022.11:50263351:CCCC:CCC
- Gene:
- MAPK11 (Varview), MAPK12 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCC=0./0
(
ALFA)
-=0.000029/4
(GnomAD)
-=0.000049/13
(TOPMED)
-=0.000106/3
(TOMMO)
-=0.001092/2
(Korea1K)
- HGVS:
19.
rs1487779857 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 22:50269680
(GRCh38)
22:50708109
(GRCh37)
- Canonical SPDI:
- NC_000022.11:50269679:G:A,NC_000022.11:50269679:G:T
- Gene:
- MAPK11 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
A=0.000546/1
(Korea1K)
A=0.000602/10
(TOMMO)
A=0.001027/3
(KOREAN)
- HGVS:
20.
rs1487616489 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:50263857
(GRCh38)
22:50702286
(GRCh37)
- Canonical SPDI:
- NC_000022.11:50263856:G:A
- Gene:
- MAPK11 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
NC_000022.11:g.50263857G>A, NC_000022.10:g.50702286G>A, NG_034042.1:g.11537C>T, NM_002751.7:c.*1091C>T, NM_002751.6:c.*1091C>T, NM_002751.5:c.*1091C>T, NR_110887.2:n.1357C>T, NR_110887.1:n.1370C>T, NM_138993.2:c.*174C>T, XM_047441447.1:c.*1091C>T, NM_138993.1:c.*174C>T