Links from Gene
Items: 1 to 20 of 4462
1.
rs1491537755 has merged into rs11305892 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT
[Show Flanks]
- Chromosome:
- 3:39278586
(GRCh38)
3:39320077
(GRCh37)
- Canonical SPDI:
- NC_000003.12:39278578:TTTTTTTTT:TTTTTTT,NC_000003.12:39278578:TTTTTTTTT:TTTTTTTT,NC_000003.12:39278578:TTTTTTTTT:TTTTTTTTTT
- Gene:
- CX3CR1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTT=0./0
(
ALFA)
T=0./0
(Korea1K)
T=0.000318/5
(TOMMO)
T=0.043333/26
(NorthernSweden)
T=0.085415/428
(1000Genomes)
T=0.125584/484
(ALSPAC)
T=0.12676/33552
(TOPMED)
T=0.127255/127
(GoNL)
T=0.127562/473
(TWINSUK)
T=0.2/8
(GENOME_DK)
- HGVS:
3.
rs1491191410 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GGCTCAATTTTTT
[Show Flanks]
- Chromosome:
- 3:39278579
(GRCh38)
3:39320071
(GRCh37)
- Canonical SPDI:
- NC_000003.12:39278579:TTTTTT:TTTTTTGGCTCAATTTTTT
- Gene:
- CX3CR1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TTTTTTGGCTCAATTTTTT=0./0
(
ALFA)
TTTTTTGGCTCAA=0.000004/1
(TOPMED)
- HGVS:
6.
rs1490725718 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:39266505
(GRCh38)
3:39307996
(GRCh37)
- Canonical SPDI:
- NC_000003.12:39266504:T:C
- Gene:
- CX3CR1 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
NC_000003.12:g.39266505T>C, NC_000003.11:g.39307996T>C, NG_016362.1:g.20231A>G, NM_001337.4:c.5A>G, NM_001337.3:c.5A>G, NM_001171171.2:c.5A>G, NM_001171171.1:c.5A>G, NM_001171172.2:c.5A>G, NM_001171172.1:c.5A>G, NM_001171174.1:c.101A>G, XM_047447538.1:c.5A>G, NP_001328.1:p.Asp2Gly, NP_001164642.1:p.Asp2Gly, NP_001164643.1:p.Asp2Gly, NP_001164645.1:p.Asp34Gly, XP_047303494.1:p.Asp2Gly
7.
rs1490658341 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 3:39273231
(GRCh38)
3:39314722
(GRCh37)
- Canonical SPDI:
- NC_000003.12:39273230:G:T
- Gene:
- CX3CR1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000019/5
(TOPMED)
T=0.000156/1
(1000Genomes)
- HGVS:
8.
rs1490337405 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C,T
[Show Flanks]
- Chromosome:
- 3:39263065
(GRCh38)
3:39304556
(GRCh37)
- Canonical SPDI:
- NC_000003.12:39263064:G:A,NC_000003.12:39263064:G:C,NC_000003.12:39263064:G:T
- Gene:
- CX3CR1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00011/2
(
ALFA)
T=0.00004/1
(TOMMO)
A=0.00022/1
(Estonian)
- HGVS:
9.
rs1490262085 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:39264712
(GRCh38)
3:39306203
(GRCh37)
- Canonical SPDI:
- NC_000003.12:39264711:G:A
- Gene:
- CX3CR1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
NC_000003.12:g.39264712G>A, NC_000003.11:g.39306203G>A, NG_016362.1:g.22024C>T, NM_001337.4:c.*730C>T, NM_001337.3:c.*730C>T, NM_001171171.2:c.*730C>T, NM_001171171.1:c.*730C>T, NM_001171172.2:c.*730C>T, NM_001171172.1:c.*730C>T, NM_001171174.1:c.*730C>T, XM_047447538.1:c.*730C>T
10.
rs1490237403 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:39266021
(GRCh38)
3:39307512
(GRCh37)
- Canonical SPDI:
- NC_000003.12:39266020:G:A
- Gene:
- CX3CR1 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
NC_000003.12:g.39266021G>A, NC_000003.11:g.39307512G>A, NG_016362.1:g.20715C>T, NM_001337.4:c.489C>T, NM_001337.3:c.489C>T, NM_001171171.2:c.489C>T, NM_001171171.1:c.489C>T, NM_001171172.2:c.489C>T, NM_001171172.1:c.489C>T, NM_001171174.1:c.585C>T, XM_047447538.1:c.489C>T
11.
rs1490164462 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:39272760
(GRCh38)
3:39314251
(GRCh37)
- Canonical SPDI:
- NC_000003.12:39272759:G:A
- Gene:
- CX3CR1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000019/5
(TOPMED)
- HGVS:
12.
rs1489534124 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:39271512
(GRCh38)
3:39313003
(GRCh37)
- Canonical SPDI:
- NC_000003.12:39271511:C:T
- Gene:
- CX3CR1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
13.
rs1488958455 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:39266180
(GRCh38)
3:39307671
(GRCh37)
- Canonical SPDI:
- NC_000003.12:39266179:G:A
- Gene:
- CX3CR1 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000003.12:g.39266180G>A, NC_000003.11:g.39307671G>A, NG_016362.1:g.20556C>T, NM_001337.4:c.330C>T, NM_001337.3:c.330C>T, NM_001171171.2:c.330C>T, NM_001171171.1:c.330C>T, NM_001171172.2:c.330C>T, NM_001171172.1:c.330C>T, NM_001171174.1:c.426C>T, XM_047447538.1:c.330C>T
14.
rs1488724286 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:39270931
(GRCh38)
3:39312422
(GRCh37)
- Canonical SPDI:
- NC_000003.12:39270930:T:C
- Gene:
- CX3CR1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD)
- HGVS:
15.
rs1488407969 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:39263689
(GRCh38)
3:39305180
(GRCh37)
- Canonical SPDI:
- NC_000003.12:39263688:A:G
- Gene:
- CX3CR1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
NC_000003.12:g.39263689A>G, NC_000003.11:g.39305180A>G, NG_016362.1:g.23047T>C, NM_001337.4:c.*1753T>C, NM_001337.3:c.*1753T>C, NM_001171171.2:c.*1753T>C, NM_001171171.1:c.*1753T>C, NM_001171172.2:c.*1753T>C, NM_001171172.1:c.*1753T>C, NM_001171174.1:c.*1753T>C, XM_047447538.1:c.*1753T>C
16.
rs1488401035 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:39275122
(GRCh38)
3:39316613
(GRCh37)
- Canonical SPDI:
- NC_000003.12:39275121:A:G
- Gene:
- CX3CR1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
17.
rs1488355793 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:39279169
(GRCh38)
3:39320660
(GRCh37)
- Canonical SPDI:
- NC_000003.12:39279168:A:G
- Gene:
- CX3CR1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
18.
rs1488341306 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:39283632
(GRCh38)
3:39325123
(GRCh37)
- Canonical SPDI:
- NC_000003.12:39283631:T:C
- Gene:
- CX3CR1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000022/3
(GnomAD)
- HGVS:
19.
rs1488252286 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 3:39274289
(GRCh38)
3:39315780
(GRCh37)
- Canonical SPDI:
- NC_000003.12:39274288:T:G
- Gene:
- CX3CR1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
20.
rs1487762741 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 3:39267547
(GRCh38)
3:39309038
(GRCh37)
- Canonical SPDI:
- NC_000003.12:39267546:G:T
- Gene:
- CX3CR1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS: