Links from Gene
Items: 1 to 20 of 1309
1.
rs1490871107 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:5084955
(GRCh38)
6:5085189
(GRCh37)
- Canonical SPDI:
- NC_000006.12:5084954:C:T
- Gene:
- LYRM4 (Varview), PPP1R3G (Varview), LYRM4-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
2.
rs1490329697 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 6:5085929
(GRCh38)
6:5086163
(GRCh37)
- Canonical SPDI:
- NC_000006.12:5085928:C:A
- Gene:
- LYRM4 (Varview), PPP1R3G (Varview), LYRM4-AS1 (Varview)
- Functional Consequence:
- coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
3.
rs1490053231 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:5085240
(GRCh38)
6:5085474
(GRCh37)
- Canonical SPDI:
- NC_000006.12:5085239:G:A
- Gene:
- LYRM4 (Varview), PPP1R3G (Varview), LYRM4-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000019/5
(TOPMED)
A=0.000021/3
(GnomAD)
A=0.000312/2
(1000Genomes)
- HGVS:
4.
rs1490037000 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,G
[Show Flanks]
- Chromosome:
- 6:5085467
(GRCh38)
6:5085701
(GRCh37)
- Canonical SPDI:
- NC_000006.12:5085466:T:A,NC_000006.12:5085466:T:G
- Gene:
- LYRM4 (Varview), PPP1R3G (Varview), LYRM4-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,5_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0.000008/1
(GnomAD_exomes)
- HGVS:
5.
rs1489726840 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 6:5085760
(GRCh38)
6:5085995
(GRCh37)
- Canonical SPDI:
- NC_000006.12:5085760::A
- Gene:
- LYRM4 (Varview), PPP1R3G (Varview), LYRM4-AS1 (Varview)
- Functional Consequence:
- coding_sequence_variant,genic_downstream_transcript_variant,frameshift_variant,intron_variant
- Validated:
- by frequency
- MAF:
A=0.000008/1
(GnomAD_exomes)
- HGVS:
6.
rs1489573893 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 6:5084298
(GRCh38)
6:5084532
(GRCh37)
- Canonical SPDI:
- NC_000006.12:5084297:C:A,NC_000006.12:5084297:C:T
- Gene:
- LYRM4 (Varview), PPP1R3G (Varview), LYRM4-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
7.
rs1489321783 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 6:5084419
(GRCh38)
6:5084653
(GRCh37)
- Canonical SPDI:
- NC_000006.12:5084418:C:A
- Gene:
- LYRM4 (Varview), PPP1R3G (Varview), LYRM4-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000196/52
(TOPMED)
A=0.000285/40
(GnomAD)
- HGVS:
8.
rs1489282984 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:5085117
(GRCh38)
6:5085351
(GRCh37)
- Canonical SPDI:
- NC_000006.12:5085116:C:T
- Gene:
- LYRM4 (Varview), PPP1R3G (Varview), LYRM4-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
9.
rs1488675098 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 6:5086017
(GRCh38)
6:5086251
(GRCh37)
- Canonical SPDI:
- NC_000006.12:5086016:G:C
- Gene:
- LYRM4 (Varview), PPP1R3G (Varview), LYRM4-AS1 (Varview)
- Functional Consequence:
- coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
10.
rs1488123424 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 6:5085966
(GRCh38)
6:5086200
(GRCh37)
- Canonical SPDI:
- NC_000006.12:5085965:C:G
- Gene:
- LYRM4 (Varview), PPP1R3G (Varview), LYRM4-AS1 (Varview)
- Functional Consequence:
- coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000008/1
(GnomAD_exomes)
- HGVS:
11.
rs1488031576 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:5086556
(GRCh38)
6:5086790
(GRCh37)
- Canonical SPDI:
- NC_000006.12:5086555:G:A
- Gene:
- LYRM4 (Varview), PPP1R3G (Varview), LYRM4-AS1 (Varview)
- Functional Consequence:
- coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant,intron_variant
- Validated:
- by frequency
- MAF:
A=0.000008/1
(GnomAD_exomes)
- HGVS:
12.
rs1487996033 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:5086244
(GRCh38)
6:5086478
(GRCh37)
- Canonical SPDI:
- NC_000006.12:5086243:C:T
- Gene:
- LYRM4 (Varview), PPP1R3G (Varview), LYRM4-AS1 (Varview)
- Functional Consequence:
- coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant,intron_variant
- Validated:
- by frequency
- MAF:
T=0.000007/1
(GnomAD_exomes)
- HGVS:
13.
rs1487278121 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAC>-
[Show Flanks]
- Chromosome:
- 6:5086509
(GRCh38)
6:5086743
(GRCh37)
- Canonical SPDI:
- NC_000006.12:5086503:ACAACAAC:ACAAC
- Gene:
- LYRM4 (Varview), PPP1R3G (Varview), LYRM4-AS1 (Varview)
- Functional Consequence:
- coding_sequence_variant,genic_downstream_transcript_variant,inframe_deletion,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
ACAAC=0.000111/1
(
ALFA)
-=0.000007/1
(GnomAD_exomes)
- HGVS:
14.
rs1487046631 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 6:5085921
(GRCh38)
6:5086155
(GRCh37)
- Canonical SPDI:
- NC_000006.12:5085920:A:C
- Gene:
- LYRM4 (Varview), PPP1R3G (Varview), LYRM4-AS1 (Varview)
- Functional Consequence:
- coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
15.
rs1487009892 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 6:5085960
(GRCh38)
6:5086194
(GRCh37)
- Canonical SPDI:
- NC_000006.12:5085959:G:A,NC_000006.12:5085959:G:C
- Gene:
- LYRM4 (Varview), PPP1R3G (Varview), LYRM4-AS1 (Varview)
- Functional Consequence:
- coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
NC_000006.12:g.5085960G>A, NC_000006.12:g.5085960G>C, NC_000006.11:g.5086194G>A, NC_000006.11:g.5086194G>C, NG_051651.1:g.179991C>T, NG_051651.1:g.179991C>G, NM_001145115.3:c.475G>A, NM_001145115.3:c.475G>C, NM_001145115.2:c.475G>A, NM_001145115.2:c.475G>C, NM_001145115.1:c.475G>A, NM_001145115.1:c.475G>C, NP_001138587.1:p.Ala159Thr, NP_001138587.1:p.Ala159Pro
16.
rs1486940245 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 6:5086365
(GRCh38)
6:5086599
(GRCh37)
- Canonical SPDI:
- NC_000006.12:5086364:G:T
- Gene:
- LYRM4 (Varview), PPP1R3G (Varview), LYRM4-AS1 (Varview)
- Functional Consequence:
- coding_sequence_variant,genic_downstream_transcript_variant,stop_gained,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000224/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000223/1
(Estonian)
- HGVS:
17.
rs1486756705 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 6:5087025
(GRCh38)
6:5087259
(GRCh37)
- Canonical SPDI:
- NC_000006.12:5087024:G:C,NC_000006.12:5087024:G:T
- Gene:
- LYRM4 (Varview), PPP1R3G (Varview), LYRM4-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
NC_000006.12:g.5087025G>C, NC_000006.12:g.5087025G>T, NC_000006.11:g.5087259G>C, NC_000006.11:g.5087259G>T, NG_051651.1:g.178926C>G, NG_051651.1:g.178926C>A, NM_001145115.3:c.*463G>C, NM_001145115.3:c.*463G>T, NM_001145115.2:c.*463G>C, NM_001145115.2:c.*463G>T, NM_001145115.1:c.*463G>C, NM_001145115.1:c.*463G>T
18.
rs1486361131 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:5084177
(GRCh38)
6:5084411
(GRCh37)
- Canonical SPDI:
- NC_000006.12:5084176:G:A
- Gene:
- LYRM4 (Varview), PPP1R3G (Varview), LYRM4-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000019/5
(TOPMED)
- HGVS:
20.
rs1485205624 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 6:5085348
(GRCh38)
6:5085582
(GRCh37)
- Canonical SPDI:
- NC_000006.12:5085347:T:A
- Gene:
- LYRM4 (Varview), PPP1R3G (Varview), LYRM4-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,5_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS: