Links from Gene
Items: 1 to 20 of 1000
1.
rs1491324163 has merged into rs386384798 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 16:57370670
(GRCh38)
16:57404582
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57370660:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000016.10:57370660:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:57370660:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:57370660:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:57370660:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:57370660:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:57370660:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:57370660:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:57370660:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:57370660:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57370660:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57370660:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57370660:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57370660:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57370660:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57370660:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57370660:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- CX3CL1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000016.10:g.57370670_57370679del, NC_000016.10:g.57370672_57370679del, NC_000016.10:g.57370674_57370679del, NC_000016.10:g.57370675_57370679del, NC_000016.10:g.57370676_57370679del, NC_000016.10:g.57370677_57370679del, NC_000016.10:g.57370678_57370679del, NC_000016.10:g.57370679del, NC_000016.10:g.57370679dup, NC_000016.10:g.57370678_57370679dup, NC_000016.10:g.57370677_57370679dup, NC_000016.10:g.57370676_57370679dup, NC_000016.10:g.57370675_57370679dup, NC_000016.10:g.57370674_57370679dup, NC_000016.10:g.57370673_57370679dup, NC_000016.10:g.57370672_57370679dup, NC_000016.10:g.57370664_57370679dup, NC_000016.9:g.57404582_57404591del, NC_000016.9:g.57404584_57404591del, NC_000016.9:g.57404586_57404591del, NC_000016.9:g.57404587_57404591del, NC_000016.9:g.57404588_57404591del, NC_000016.9:g.57404589_57404591del, NC_000016.9:g.57404590_57404591del, NC_000016.9:g.57404591del, NC_000016.9:g.57404591dup, NC_000016.9:g.57404590_57404591dup, NC_000016.9:g.57404589_57404591dup, NC_000016.9:g.57404588_57404591dup, NC_000016.9:g.57404587_57404591dup, NC_000016.9:g.57404586_57404591dup, NC_000016.9:g.57404585_57404591dup, NC_000016.9:g.57404584_57404591dup, NC_000016.9:g.57404576_57404591dup
2.
rs1491256763 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 16:57378470
(GRCh38)
16:57412383
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57378470:C:CC
- Gene:
- CX3CL1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CC=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
4.
rs1491095438 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTTT
[Show Flanks]
- Chromosome:
- 16:57370661
(GRCh38)
16:57404574
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57370661:TTT:TTTCTTT
- Gene:
- CX3CL1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TTTCTTT=0.000084/1
(
ALFA)
TTTC=0.000004/1
(TOPMED)
- HGVS:
5.
rs1491042801 has merged into rs538580586 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 16:57375153
(GRCh38)
16:57409065
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57375151:AGA:A
- Gene:
- CX3CL1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00059/7
(
ALFA)
-=0.00016/3
(TOMMO)
-=0.00253/122
(GnomAD)
-=0.02412/44
(Korea1K)
- HGVS:
6.
rs1490954764 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 16:57382172
(GRCh38)
16:57416084
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57382171:C:A
- Gene:
- CX3CL1 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
A=0.000035/1
(TOMMO)
- HGVS:
NC_000016.10:g.57382172C>A, NC_000016.9:g.57416084C>A, NM_002996.6:c.334C>A, NM_002996.5:c.334C>A, NM_002996.4:c.334C>A, NM_002996.3:c.334C>A, NM_001304392.3:c.79C>A, NM_001304392.2:c.79C>A, NM_001304392.1:c.79C>A, NP_002987.1:p.Pro112Thr, NP_001291321.1:p.Pro27Thr
8.
rs1490663774 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 16:57374697
(GRCh38)
16:57408609
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57374696:C:G
- Gene:
- CX3CL1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
9.
rs1490164252 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:57374374
(GRCh38)
16:57408286
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57374373:C:T
- Gene:
- CX3CL1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
10.
rs1490029566 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 16:57383558
(GRCh38)
16:57417470
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57383557:TT:T
- Gene:
- CX3CL1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
11.
rs1489819603 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:57376238
(GRCh38)
16:57410150
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57376237:C:T
- Gene:
- CX3CL1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
12.
rs1489745461 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:57377057
(GRCh38)
16:57410969
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57377056:G:A
- Gene:
- CX3CL1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
13.
rs1489611590 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:57379146
(GRCh38)
16:57413058
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57379145:G:A
- Gene:
- CX3CL1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
14.
rs1489578751 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAGA>-
[Show Flanks]
- Chromosome:
- 16:57376771
(GRCh38)
16:57410683
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57376769:AAAGA:A
- Gene:
- CX3CL1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
15.
rs1489534180 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:57376515
(GRCh38)
16:57410427
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57376514:G:A
- Gene:
- CX3CL1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.01163/138
(
ALFA)
A=0.01745/51
(KOREAN)
G=0.5/7
(SGDP_PRJ)
- HGVS:
16.
rs1489337694 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 16:57376357
(GRCh38)
16:57410269
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57376356:G:C
- Gene:
- CX3CL1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
17.
rs1489326610 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:57384636
(GRCh38)
16:57418548
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57384635:G:A
- Gene:
- CX3CL1 (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=0.000023/6
(TOPMED)
- HGVS:
18.
rs1489217677 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 16:57370657
(GRCh38)
16:57404569
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57370656:T:C,NC_000016.10:57370656:T:G
- Gene:
- CX3CL1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000057/15
(TOPMED)
- HGVS:
19.
rs1489164920 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 16:57385266
(GRCh38)
16:57419178
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57385265:T:C
- Gene:
- CX3CL1 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000214/3
(
ALFA)
C=0.000312/2
(1000Genomes)
C=0.000378/100
(TOPMED)
C=0.000378/53
(GnomAD)
- HGVS: