Links from Gene
Items: 1 to 20 of 408
1.
rs1490374647 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:114639903
(GRCh38)
X:113874386
(GRCh37)
- Canonical SPDI:
- NC_000023.11:114639902:C:T
- Gene:
- HTR2C (Varview), MIR764 (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
2.
rs1490211774 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- X:114639190
(GRCh38)
X:113873673
(GRCh37)
- Canonical SPDI:
- NC_000023.11:114639189:C:A
- Gene:
- HTR2C (Varview), MIR764 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000015/4
(TOPMED)
A=0.000019/2
(GnomAD)
- HGVS:
3.
rs1490206901 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:114638196
(GRCh38)
X:113872667
(GRCh37)
- Canonical SPDI:
- NC_000023.11:114638195:C:T
- Gene:
- HTR2C (Varview), MIR764 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000019/2
(GnomAD)
T=0.000113/30
(TOPMED)
- HGVS:
5.
rs1488981305 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:114637581
(GRCh38)
X:113872052
(GRCh37)
- Canonical SPDI:
- NC_000023.11:114637580:C:T
- Gene:
- HTR2C (Varview), MIR764 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
- HGVS:
6.
rs1488672285 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:114638293
(GRCh38)
X:113872764
(GRCh37)
- Canonical SPDI:
- NC_000023.11:114638292:T:C
- Gene:
- HTR2C (Varview), MIR764 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
7.
rs1488630794 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- X:114637451
(GRCh38)
X:113871922
(GRCh37)
- Canonical SPDI:
- NC_000023.11:114637450:C:G
- Gene:
- HTR2C (Varview), MIR764 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000087/9
(GnomAD)
G=0.00011/29
(TOPMED)
- HGVS:
8.
rs1488519408 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTAGCAT
[Show Flanks]
- Chromosome:
- X:114638633
(GRCh38)
X:113873117
(GRCh37)
- Canonical SPDI:
- NC_000023.11:114638633:CATCTAGCAT:CATCTAGCATCTAGCAT
- Gene:
- HTR2C (Varview), MIR764 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CATCTAGCATCTAGCAT=0./0
(
ALFA)
CATCTAG=0.000015/4
(TOPMED)
CATCTAG=0.000021/2
(GnomAD)
- HGVS:
9.
rs1486502787 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- X:114639364
(GRCh38)
X:113873848
(GRCh37)
- Canonical SPDI:
- NC_000023.11:114639364:TTTTT:TTTTTT
- Gene:
- HTR2C (Varview), MIR764 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTT=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000019/2
(GnomAD)
- HGVS:
10.
rs1480150050 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:114639350
(GRCh38)
X:113873833
(GRCh37)
- Canonical SPDI:
- NC_000023.11:114639349:A:G
- Gene:
- HTR2C (Varview), MIR764 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
11.
rs1480131779 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TAT>-
[Show Flanks]
- Chromosome:
- X:114638540
(GRCh38)
X:113873023
(GRCh37)
- Canonical SPDI:
- NC_000023.11:114638532:TTATTATTAT:TTATTAT
- Gene:
- HTR2C (Varview), MIR764 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTATTAT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.00001/1
(GnomAD)
- HGVS:
12.
rs1480019948 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:114639766
(GRCh38)
X:113874249
(GRCh37)
- Canonical SPDI:
- NC_000023.11:114639765:G:A
- Gene:
- HTR2C (Varview), MIR764 (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
13.
rs1478897641 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- X:114638172
(GRCh38)
X:113872643
(GRCh37)
- Canonical SPDI:
- NC_000023.11:114638171:C:A,NC_000023.11:114638171:C:T
- Gene:
- HTR2C (Varview), MIR764 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000214/3
(
ALFA)
A=0.000023/6
(TOPMED)
A=0.000029/3
(GnomAD)
T=0.000208/1
(1000Genomes)
- HGVS:
14.
rs1478625493 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- X:114637765
(GRCh38)
X:113872236
(GRCh37)
- Canonical SPDI:
- NC_000023.11:114637764:C:G,NC_000023.11:114637764:C:T
- Gene:
- HTR2C (Varview), MIR764 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
G=0.000019/2
(GnomAD)
- HGVS:
15.
rs1478512473 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:114638789
(GRCh38)
X:113873272
(GRCh37)
- Canonical SPDI:
- NC_000023.11:114638788:T:C
- Gene:
- HTR2C (Varview), MIR764 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.00001/1
(GnomAD)
- HGVS:
16.
rs1478150922 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:114638459
(GRCh38)
X:113872930
(GRCh37)
- Canonical SPDI:
- NC_000023.11:114638458:A:G
- Gene:
- HTR2C (Varview), MIR764 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_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.
rs1474155814 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- X:114638860
(GRCh38)
X:113873343
(GRCh37)
- Canonical SPDI:
- NC_000023.11:114638859:A:C
- Gene:
- HTR2C (Varview), MIR764 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.00001/1
(GnomAD)
- HGVS:
18.
rs1474104521 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:114637861
(GRCh38)
X:113872332
(GRCh37)
- Canonical SPDI:
- NC_000023.11:114637860:C:T
- Gene:
- HTR2C (Varview), MIR764 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000195/20
(GnomAD)
T=0.00023/61
(TOPMED)
T=0.000342/1
(KOREAN)
- HGVS:
19.
rs1472197246 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:114638003
(GRCh38)
X:113872474
(GRCh37)
- Canonical SPDI:
- NC_000023.11:114638002:A:G
- Gene:
- HTR2C (Varview), MIR764 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000034/9
(TOPMED)
G=0.000048/5
(GnomAD)
- HGVS:
20.
rs1469530725 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- X:114639492
(GRCh38)
X:113873975
(GRCh37)
- Canonical SPDI:
- NC_000023.11:114639491:G:T
- Gene:
- HTR2C (Varview), MIR764 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.00001/1
(GnomAD)
- HGVS: