Links from Gene
Items: 1 to 20 of 2010
2.
rs1491097815 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CAAAA
[Show Flanks]
- Chromosome:
- X:88745466
(GRCh38)
X:88000468
(GRCh37)
- Canonical SPDI:
- NC_000023.11:88745466:AA:AACAAAA
- Gene:
- CPXCR1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
AACAAAA=0./0
(
ALFA)
AACAA=0.00002/1
(GnomAD)
- HGVS:
3.
rs1490644124 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- X:88746834
(GRCh38)
X:88001835
(GRCh37)
- Canonical SPDI:
- NC_000023.11:88746833:G:C
- Gene:
- CPXCR1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000019/2
(GnomAD)
C=0.00003/8
(TOPMED)
- HGVS:
4.
rs1490299288 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:88746126
(GRCh38)
X:88001127
(GRCh37)
- Canonical SPDI:
- NC_000023.11:88746125:C:T
- Gene:
- CPXCR1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.00001/1
(GnomAD)
- HGVS:
5.
rs1490086729 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:88754725
(GRCh38)
X:88009726
(GRCh37)
- Canonical SPDI:
- NC_000023.11:88754724:A:G
- Gene:
- CPXCR1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000142/2
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000019/2
(GnomAD)
G=0.00018/2
(TOMMO)
- HGVS:
6.
rs1490054286 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:88745640
(GRCh38)
X:88000641
(GRCh37)
- Canonical SPDI:
- NC_000023.11:88745639:C:T
- Gene:
- CPXCR1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000029/3
(GnomAD)
- HGVS:
9.
rs1488894459 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- X:88749402
(GRCh38)
X:88004403
(GRCh37)
- Canonical SPDI:
- NC_000023.11:88749401:A:T
- Gene:
- CPXCR1 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
11.
rs1488663417 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:88754678
(GRCh38)
X:88009679
(GRCh37)
- Canonical SPDI:
- NC_000023.11:88754677:T:C
- Gene:
- CPXCR1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
12.
rs1488599313 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:88748664
(GRCh38)
X:88003665
(GRCh37)
- Canonical SPDI:
- NC_000023.11:88748663:T:C
- Gene:
- CPXCR1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.00001/1
(GnomAD)
- HGVS:
13.
rs1488486116 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:88749860
(GRCh38)
X:88004861
(GRCh37)
- Canonical SPDI:
- NC_000023.11:88749859:A:G
- Gene:
- CPXCR1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.00001/1
(GnomAD)
- HGVS:
15.
rs1487996584 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- X:88747476
(GRCh38)
X:88002477
(GRCh37)
- Canonical SPDI:
- NC_000023.11:88747475:T:A
- Gene:
- CPXCR1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.00001/1
(GnomAD)
- HGVS:
16.
rs1487946226 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- X:88747296
(GRCh38)
X:88002297
(GRCh37)
- Canonical SPDI:
- NC_000023.11:88747295:C:G
- Gene:
- CPXCR1 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000023/6
(TOPMED)
G=0.000029/3
(GnomAD)
- HGVS:
17.
rs1487833113 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:88748769
(GRCh38)
X:88003770
(GRCh37)
- Canonical SPDI:
- NC_000023.11:88748768:T:C
- Gene:
- CPXCR1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000142/2
(
ALFA)
C=0.000029/3
(GnomAD)
C=0.000042/11
(TOPMED)
- HGVS:
18.
rs1486566393 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:88752248
(GRCh38)
X:88007249
(GRCh37)
- Canonical SPDI:
- NC_000023.11:88752247:A:G
- Gene:
- CPXCR1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.00001/1
(GnomAD)
G=0.000015/4
(TOPMED)
- HGVS:
19.
rs1486514727 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- X:88750898
(GRCh38)
X:88005899
(GRCh37)
- Canonical SPDI:
- NC_000023.11:88750897:T:G
- Gene:
- CPXCR1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
20.
rs1486448240 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- X:88750405
(GRCh38)
X:88005406
(GRCh37)
- Canonical SPDI:
- NC_000023.11:88750404:G:T
- Gene:
- CPXCR1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000019/2
(GnomAD)
- HGVS: