Links from Gene
Items: 1 to 20 of 1218
1.
rs1490115580 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:27322000
(GRCh38)
1:27648491
(GRCh37)
- Canonical SPDI:
- NC_000001.11:27321999:T:C
- Gene:
- TMEM222 (Varview), ACTG1P20 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000015/4
(TOPMED)
- HGVS:
2.
rs1489563526 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 1:27325239
(GRCh38)
1:27651730
(GRCh37)
- Canonical SPDI:
- NC_000001.11:27325238:T:G
- Gene:
- TMEM222 (Varview), ACTG1P20 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
3.
rs1489518169 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:27326440
(GRCh38)
1:27652931
(GRCh37)
- Canonical SPDI:
- NC_000001.11:27326439:G:A
- Gene:
- TMEM222 (Varview), ACTG1P20 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000021/3
(GnomAD)
A=0.000023/6
(TOPMED)
- HGVS:
5.
rs1488838917 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:27323200
(GRCh38)
1:27649691
(GRCh37)
- Canonical SPDI:
- NC_000001.11:27323199:A:G
- Gene:
- TMEM222 (Varview), ACTG1P20 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
6.
rs1488770152 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 1:27325440
(GRCh38)
1:27651931
(GRCh37)
- Canonical SPDI:
- NC_000001.11:27325439:C:G,NC_000001.11:27325439:C:T
- Gene:
- TMEM222 (Varview), ACTG1P20 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000014/2
(GnomAD)
- HGVS:
7.
rs1488191477 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 1:27324109
(GRCh38)
1:27650600
(GRCh37)
- Canonical SPDI:
- NC_000001.11:27324108:T:G
- Gene:
- TMEM222 (Varview), ACTG1P20 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
8.
rs1487825029 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:27325370
(GRCh38)
1:27651861
(GRCh37)
- Canonical SPDI:
- NC_000001.11:27325369:C:T
- Gene:
- TMEM222 (Varview), ACTG1P20 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
9.
rs1487202303 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:27323590
(GRCh38)
1:27650081
(GRCh37)
- Canonical SPDI:
- NC_000001.11:27323589:G:A
- Gene:
- TMEM222 (Varview), ACTG1P20 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
10.
rs1484918121 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 1:27325071
(GRCh38)
1:27651562
(GRCh37)
- Canonical SPDI:
- NC_000001.11:27325070:T:A,NC_000001.11:27325070:T:C
- Gene:
- TMEM222 (Varview), ACTG1P20 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
11.
rs1484560109 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:27325582
(GRCh38)
1:27652073
(GRCh37)
- Canonical SPDI:
- NC_000001.11:27325581:T:C
- Gene:
- TMEM222 (Varview), ACTG1P20 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000054/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
12.
rs1484222546 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:27325593
(GRCh38)
1:27652084
(GRCh37)
- Canonical SPDI:
- NC_000001.11:27325592:A:G
- Gene:
- TMEM222 (Varview), ACTG1P20 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000072/19
(TOPMED)
G=0.000078/11
(GnomAD)
- HGVS:
13.
rs1483577824 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:27322150
(GRCh38)
1:27648641
(GRCh37)
- Canonical SPDI:
- NC_000001.11:27322149:G:A
- Gene:
- TMEM222 (Varview), ACTG1P20 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000094/1
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
15.
rs1482472155 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:27323966
(GRCh38)
1:27650457
(GRCh37)
- Canonical SPDI:
- NC_000001.11:27323965:A:G
- Gene:
- TMEM222 (Varview), ACTG1P20 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000015/4
(TOPMED)
- HGVS:
16.
rs1480038807 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 1:27322703
(GRCh38)
1:27649194
(GRCh37)
- Canonical SPDI:
- NC_000001.11:27322702:C:A,NC_000001.11:27322702:C:G
- Gene:
- TMEM222 (Varview), ACTG1P20 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
17.
rs1478999714 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 1:27324062
(GRCh38)
1:27650553
(GRCh37)
- Canonical SPDI:
- NC_000001.11:27324061:A:C
- Gene:
- TMEM222 (Varview), ACTG1P20 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
18.
rs1478654729 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:27326476
(GRCh38)
1:27652967
(GRCh37)
- Canonical SPDI:
- NC_000001.11:27326475:C:T
- Gene:
- TMEM222 (Varview), ACTG1P20 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
20.
rs1477753192 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:27324026
(GRCh38)
1:27650517
(GRCh37)
- Canonical SPDI:
- NC_000001.11:27324025:T:C
- Gene:
- TMEM222 (Varview), ACTG1P20 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_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: