Links from Nucleotide
Items: 1 to 20 of 5687
2.
rs1491152028 has merged into rs139134824 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGTG>-,TG,TGTGTG,TGTGTGTG
[Show Flanks]
- Chromosome:
- 1:36470820
(GRCh38)
1:36936421
(GRCh37)
- Canonical SPDI:
- NC_000001.11:36470808:GTGTGTGTGTGTGTG:GTGTGTGTGTG,NC_000001.11:36470808:GTGTGTGTGTGTGTG:GTGTGTGTGTGTG,NC_000001.11:36470808:GTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTG,NC_000001.11:36470808:GTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG
- Gene:
- CSF3R (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGTGTG=0./0
(
ALFA)
-=0.000042/11
(TOPMED)
GT=0.001667/1
(NorthernSweden)
GT=0.002004/2
(GoNL)
GT=0.008482/38
(Estonian)
GT=0.074016/474
(1000Genomes)
GT=0.226134/3790
(TOMMO)
GT=0.276201/506
(Korea1K)
- HGVS:
NC_000001.11:g.36470810TG[5], NC_000001.11:g.36470810TG[6], NC_000001.11:g.36470810TG[8], NC_000001.11:g.36470810TG[9], NC_000001.10:g.36936411TG[5], NC_000001.10:g.36936411TG[6], NC_000001.10:g.36936411TG[8], NC_000001.10:g.36936411TG[9], NG_016270.1:g.17087AC[5], NG_016270.1:g.17087AC[6], NG_016270.1:g.17087AC[8], NG_016270.1:g.17087AC[9]
6.
rs1490752861 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-,TT
[Show Flanks]
- Chromosome:
- 1:36471057
(GRCh38)
1:36936658
(GRCh37)
- Canonical SPDI:
- NC_000001.11:36471056:TTTTTTT:TTTTTT,NC_000001.11:36471056:TTTTTTT:TTTTTTTT
- Gene:
- CSF3R (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTT=0./0
(
ALFA)
-=0.000043/6
(GnomAD)
-=0.003079/52
(TOMMO)
-=0.014192/26
(Korea1K)
- HGVS:
7.
rs1490556629 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:36470540
(GRCh38)
1:36936141
(GRCh37)
- Canonical SPDI:
- NC_000001.11:36470539:C:T
- Gene:
- CSF3R (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
8.
rs1490552483 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:36473594
(GRCh38)
1:36939195
(GRCh37)
- Canonical SPDI:
- NC_000001.11:36473593:C:T
- Gene:
- CSF3R (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0./0
(GnomAD)
T=0.000012/3
(GnomAD_exomes)
- HGVS:
NC_000001.11:g.36473594C>T, NC_000001.10:g.36939195C>T, NG_016270.1:g.14315G>A, NM_000760.4:c.514G>A, NM_000760.3:c.514G>A, NM_156039.3:c.514G>A, NM_172313.3:c.514G>A, NM_172313.2:c.514G>A, NM_156038.2:c.514G>A, XM_047446753.1:c.514G>A, XM_011540749.1:c.514G>A, XM_005270493.1:c.514G>A, NM_156038.1:c.514G>A, NP_000751.1:p.Asp172Asn, NP_724781.1:p.Asp172Asn, NP_758519.1:p.Asp172Asn, XP_047302709.1:p.Asp172Asn, XP_011539051.1:p.Asp172Asn, XP_005270550.1:p.Asp172Asn
9.
rs1490370553 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:36478730
(GRCh38)
1:36944331
(GRCh37)
- Canonical SPDI:
- NC_000001.11:36478729:G:A
- Gene:
- CSF3R (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
10.
rs1490177526 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:36478282
(GRCh38)
1:36943883
(GRCh37)
- Canonical SPDI:
- NC_000001.11:36478281:A:G
- Gene:
- CSF3R (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
- HGVS:
11.
rs1490007862 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:36471519
(GRCh38)
1:36937120
(GRCh37)
- Canonical SPDI:
- NC_000001.11:36471518:G:A
- Gene:
- CSF3R (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000001.11:g.36471519G>A, NC_000001.10:g.36937120G>A, NG_016270.1:g.16390C>T, NM_000760.4:c.1199C>T, NM_000760.3:c.1199C>T, NM_156039.3:c.1199C>T, NM_172313.3:c.1199C>T, NM_172313.2:c.1199C>T, NM_156038.2:c.1199C>T, XM_047446753.1:c.1199C>T, XM_011540749.1:c.1199C>T, XM_005270493.1:c.1199C>T, NM_156038.1:c.1199C>T, NP_000751.1:p.Pro400Leu, NP_724781.1:p.Pro400Leu, NP_758519.1:p.Pro400Leu, XP_047302709.1:p.Pro400Leu, XP_011539051.1:p.Pro400Leu, XP_005270550.1:p.Pro400Leu
12.
rs1489997651 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:36479128
(GRCh38)
1:36944729
(GRCh37)
- Canonical SPDI:
- NC_000001.11:36479127:C:T
- Gene:
- CSF3R (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS:
13.
rs1489755953 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:36471925
(GRCh38)
1:36937526
(GRCh37)
- Canonical SPDI:
- NC_000001.11:36471924:G:A
- Gene:
- CSF3R (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
15.
rs1489468310 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 1:36487481
(GRCh38)
1:36953082
(GRCh37)
- Canonical SPDI:
- NC_000001.11:36487480:A:C,NC_000001.11:36487480:A:G
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000337/46
(GnomAD)
- HGVS:
16.
rs1489462022 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:36472901
(GRCh38)
1:36938502
(GRCh37)
- Canonical SPDI:
- NC_000001.11:36472900:A:G
- Gene:
- CSF3R (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
17.
rs1489427982 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:36472339
(GRCh38)
1:36937940
(GRCh37)
- Canonical SPDI:
- NC_000001.11:36472338:G:A
- Gene:
- CSF3R (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Clinical significance:
- uncertain-significance
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
NC_000001.11:g.36472339G>A, NC_000001.10:g.36937940G>A, NG_016270.1:g.15570C>T, NM_000760.4:c.896C>T, NM_000760.3:c.896C>T, NM_156039.3:c.896C>T, NM_172313.3:c.896C>T, NM_172313.2:c.896C>T, NM_156038.2:c.896C>T, XM_047446753.1:c.896C>T, XM_011540749.1:c.896C>T, XM_005270493.1:c.896C>T, NM_156038.1:c.896C>T, NP_000751.1:p.Pro299Leu, NP_724781.1:p.Pro299Leu, NP_758519.1:p.Pro299Leu, XP_047302709.1:p.Pro299Leu, XP_011539051.1:p.Pro299Leu, XP_005270550.1:p.Pro299Leu
18.
rs1489344600 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:36472287
(GRCh38)
1:36937888
(GRCh37)
- Canonical SPDI:
- NC_000001.11:36472286:G:C
- Gene:
- CSF3R (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000001.11:g.36472287G>C, NC_000001.10:g.36937888G>C, NG_016270.1:g.15622C>G, NM_000760.4:c.948C>G, NM_000760.3:c.948C>G, NM_156039.3:c.948C>G, NM_172313.3:c.948C>G, NM_172313.2:c.948C>G, NM_156038.2:c.948C>G, XM_047446753.1:c.948C>G, XM_011540749.1:c.948C>G, XM_005270493.1:c.948C>G, NM_156038.1:c.948C>G
19.
rs1489178404 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:36467967
(GRCh38)
1:36933568
(GRCh37)
- Canonical SPDI:
- NC_000001.11:36467966:G:A
- Gene:
- CSF3R (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
20.
rs1489022430 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:36479844
(GRCh38)
1:36945445
(GRCh37)
- Canonical SPDI:
- NC_000001.11:36479843:C:T
- Gene:
- CSF3R (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: