Links from Gene
Items: 1 to 20 of 392
1.
rs1489080715 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:110055696
(GRCh38)
X:109298924
(GRCh37)
- Canonical SPDI:
- NC_000023.11:110055695:C:T
- Gene:
- TMEM164 (Varview), MIR652 (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,downstream_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000019/2
(GnomAD)
T=0.000026/7
(TOPMED)
C=0.5/1
(SGDP_PRJ)
- HGVS:
2.
rs1489022437 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- X:110055503
(GRCh38)
X:109298731
(GRCh37)
- Canonical SPDI:
- NC_000023.11:110055502:G:T
- Gene:
- TMEM164 (Varview), MIR652 (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,downstream_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000029/3
(GnomAD)
T=0.000034/9
(TOPMED)
- HGVS:
3.
rs1488753078 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- X:110054709
(GRCh38)
X:109297937
(GRCh37)
- Canonical SPDI:
- NC_000023.11:110054708:G:A,NC_000023.11:110054708:G:T
- Gene:
- TMEM164 (Varview), MIR652 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.00001/1
(GnomAD)
- HGVS:
4.
rs1488560539 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:110054063
(GRCh38)
X:109297291
(GRCh37)
- Canonical SPDI:
- NC_000023.11:110054062:A:G
- Gene:
- TMEM164 (Varview), MIR652 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000045/12
(TOPMED)
G=0.000067/7
(GnomAD)
- HGVS:
5.
rs1488425009 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- X:110054292
(GRCh38)
X:109297520
(GRCh37)
- Canonical SPDI:
- NC_000023.11:110054291:G:A,NC_000023.11:110054291:G:C
- Gene:
- TMEM164 (Varview), MIR652 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
6.
rs1486155231 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:110054663
(GRCh38)
X:109297891
(GRCh37)
- Canonical SPDI:
- NC_000023.11:110054662:C:T
- Gene:
- TMEM164 (Varview), MIR652 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000019/2
(GnomAD)
- HGVS:
7.
rs1482955240 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:110054691
(GRCh38)
X:109297919
(GRCh37)
- Canonical SPDI:
- NC_000023.11:110054690:C:T
- Gene:
- TMEM164 (Varview), MIR652 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000029/3
(GnomAD)
- HGVS:
8.
rs1482184628 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:110053889
(GRCh38)
X:109297117
(GRCh37)
- Canonical SPDI:
- NC_000023.11:110053888:T:C
- Gene:
- TMEM164 (Varview), MIR652 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.00001/1
(GnomAD)
- HGVS:
10.
rs1480227402 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- X:110055275
(GRCh38)
X:109298503
(GRCh37)
- Canonical SPDI:
- NC_000023.11:110055274:T:G
- Gene:
- TMEM164 (Varview), MIR652 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000015/4
(TOPMED)
- HGVS:
12.
rs1478574580 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- X:110054056
(GRCh38)
X:109297284
(GRCh37)
- Canonical SPDI:
- NC_000023.11:110054055:A:T
- Gene:
- TMEM164 (Varview), MIR652 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.00001/1
(GnomAD)
- HGVS:
13.
rs1477725326 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- X:110053561
(GRCh38)
X:109296789
(GRCh37)
- Canonical SPDI:
- NC_000023.11:110053560:A:T
- Gene:
- TMEM164 (Varview), MIR652 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
T=0.000019/2
(GnomAD)
- HGVS:
14.
rs1477594620 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:110053437
(GRCh38)
X:109296665
(GRCh37)
- Canonical SPDI:
- NC_000023.11:110053436:G:A
- Gene:
- TMEM164 (Varview), MIR652 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.00001/1
(GnomAD)
A=0.00009/1
(TOMMO)
- HGVS:
16.
rs1477164850 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:110053587
(GRCh38)
X:109296815
(GRCh37)
- Canonical SPDI:
- NC_000023.11:110053586:G:A
- Gene:
- TMEM164 (Varview), MIR652 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.00001/1
(GnomAD)
A=0.00198/25
(TOMMO)
A=0.002055/6
(KOREAN)
- HGVS:
17.
rs1477114124 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:110055103
(GRCh38)
X:109298331
(GRCh37)
- Canonical SPDI:
- NC_000023.11:110055102:C:T
- Gene:
- TMEM164 (Varview), MIR652 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.00001/1
(GnomAD)
- HGVS:
18.
rs1476599981 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- X:110055775
(GRCh38)
X:109299003
(GRCh37)
- Canonical SPDI:
- NC_000023.11:110055774:C:A
- Gene:
- TMEM164 (Varview), MIR652 (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,downstream_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.00001/1
(GnomAD)
- HGVS:
19.
rs1475214525 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:110054958
(GRCh38)
X:109298186
(GRCh37)
- Canonical SPDI:
- NC_000023.11:110054957:T:C
- Gene:
- TMEM164 (Varview), MIR652 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
20.
rs1474001574 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:110055482
(GRCh38)
X:109298710
(GRCh37)
- Canonical SPDI:
- NC_000023.11:110055481:A:G
- Gene:
- TMEM164 (Varview), MIR652 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,5_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.00001/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS: