Links from Gene
Items: 1 to 20 of 336
2.
rs1482186022 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:114715018
(GRCh38)
X:113949435
(GRCh37)
- Canonical SPDI:
- NC_000023.11:114715017:A:G
- Gene:
- HTR2C (Varview), MIR1298 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000015/4
(TOPMED)
- HGVS:
3.
rs1481744788 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- X:114714799
(GRCh38)
X:113949216
(GRCh37)
- Canonical SPDI:
- NC_000023.11:114714798:G:C,NC_000023.11:114714798:G:T
- Gene:
- HTR2C (Varview), MIR1298 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000072/19
(TOPMED)
- HGVS:
4.
rs1481264012 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- X:114713253
(GRCh38)
X:113947670
(GRCh37)
- Canonical SPDI:
- NC_000023.11:114713252:G:T
- Gene:
- HTR2C (Varview), MIR1298 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000029/3
(GnomAD)
- HGVS:
5.
rs1480597925 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- X:114714330
(GRCh38)
X:113948747
(GRCh37)
- Canonical SPDI:
- NC_000023.11:114714329:T:G
- Gene:
- HTR2C (Varview), MIR1298 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
7.
rs1471983868 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:114715656
(GRCh38)
X:113950069
(GRCh37)
- Canonical SPDI:
- NC_000023.11:114715655:A:G
- Gene:
- HTR2C (Varview), MIR1298 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000029/3
(GnomAD)
G=0.000053/14
(TOPMED)
- HGVS:
9.
rs1470849699 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:114713456
(GRCh38)
X:113947873
(GRCh37)
- Canonical SPDI:
- NC_000023.11:114713455:A:G
- Gene:
- HTR2C (Varview), MIR1298 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.00001/1
(GnomAD)
- HGVS:
10.
rs1470475950 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- X:114714513
(GRCh38)
X:113948930
(GRCh37)
- Canonical SPDI:
- NC_000023.11:114714512:G:T
- Gene:
- HTR2C (Varview), MIR1298 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
11.
rs1469893854 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:114714114
(GRCh38)
X:113948531
(GRCh37)
- Canonical SPDI:
- NC_000023.11:114714113:C:T
- Gene:
- HTR2C (Varview), MIR1298 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
T=0.000029/3
(GnomAD)
- HGVS:
12.
rs1465798616 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- X:114715295
(GRCh38)
X:113949712
(GRCh37)
- Canonical SPDI:
- NC_000023.11:114715294:C:G,NC_000023.11:114715294:C:T
- Gene:
- HTR2C (Varview), MIR1298 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.00001/1
(GnomAD)
T=0.000011/2
(GnomAD_exomes)
- HGVS:
13.
rs1465724938 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:114715136
(GRCh38)
X:113949553
(GRCh37)
- Canonical SPDI:
- NC_000023.11:114715135:A:G
- Gene:
- HTR2C (Varview), MIR1298 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
14.
rs1463103268 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:114713729
(GRCh38)
X:113948146
(GRCh37)
- Canonical SPDI:
- NC_000023.11:114713728:A:G
- Gene:
- HTR2C (Varview), MIR1298 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.00001/1
(GnomAD)
G=0.000045/1
(TOMMO)
- HGVS:
15.
rs1462904582 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:114715339
(GRCh38)
X:113949756
(GRCh37)
- Canonical SPDI:
- NC_000023.11:114715338:G:A
- Gene:
- HTR2C (Varview), MIR1298 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000023/4
(GnomAD_exomes)
A=0.000106/11
(GnomAD)
- HGVS:
16.
rs1460666451 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- X:114714648
(GRCh38)
X:113949065
(GRCh37)
- Canonical SPDI:
- NC_000023.11:114714647:C:G
- Gene:
- HTR2C (Varview), MIR1298 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.00001/1
(GnomAD)
- HGVS:
17.
rs1457397979 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- X:114714973
(GRCh38)
X:113949390
(GRCh37)
- Canonical SPDI:
- NC_000023.11:114714972:T:G
- Gene:
- HTR2C (Varview), MIR1298 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.00001/1
(GnomAD)
- HGVS:
18.
rs1457073122 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- X:114714292
(GRCh38)
X:113948709
(GRCh37)
- Canonical SPDI:
- NC_000023.11:114714291:T:A
- Gene:
- HTR2C (Varview), MIR1298 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000019/5
(TOPMED)
- HGVS:
19.
rs1454222631 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:114715092
(GRCh38)
X:113949509
(GRCh37)
- Canonical SPDI:
- NC_000023.11:114715091:A:G
- Gene:
- HTR2C (Varview), MIR1298 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.00001/1
(GnomAD)
- HGVS:
20.
rs1451056612 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:114715109
(GRCh38)
X:113949526
(GRCh37)
- Canonical SPDI:
- NC_000023.11:114715108:C:T
- Gene:
- HTR2C (Varview), MIR1298 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
T=0.000029/3
(GnomAD)
- HGVS: