Links from Nucleotide
Items: 1 to 20 of 3124
2.
rs1491240949 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 1:149785408
(GRCh38)
1:149756964
(GRCh37)
- Canonical SPDI:
- NC_000001.11:149785407:GT:
- Gene:
- FCGR1A (Varview), H2BC18 (Varview), LOC124904411 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.00008/1
(
ALFA)
-=0.00024/17
(GnomAD)
- HGVS:
3.
rs1490765510 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:149792527
(GRCh38)
1:149764083
(GRCh37)
- Canonical SPDI:
- NC_000001.11:149792526:C:T
- Gene:
- FCGR1A (Varview), H2BC18 (Varview), LOC124904411 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
4.
rs1490602817 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:149792026
(GRCh38)
1:149763582
(GRCh37)
- Canonical SPDI:
- NC_000001.11:149792025:G:C
- Gene:
- FCGR1A (Varview), H2BC18 (Varview), LOC124904411 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000253/3
(
ALFA)
C=0.000196/22
(GnomAD)
- HGVS:
5.
rs1490564837 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:149790951
(GRCh38)
1:149762507
(GRCh37)
- Canonical SPDI:
- NC_000001.11:149790950:C:A
- Gene:
- FCGR1A (Varview), H2BC18 (Varview), LOC124904411 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
7.
rs1490276288 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:149792830
(GRCh38)
1:149764386
(GRCh37)
- Canonical SPDI:
- NC_000001.11:149792829:C:T
- Gene:
- FCGR1A (Varview), H2BC18 (Varview), LOC124904411 (Varview)
- Functional Consequence:
- intron_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
NC_000001.11:g.149792830C>T, NW_003871055.3:g.6608243C>T, NG_033089.1:g.24543G>A, NG_007578.1:g.15099C>T, NC_000001.10:g.149764386C>T, XM_047438180.1:c.379G>A, XM_047438182.1:c.379G>A, XM_047438183.1:c.379G>A, XP_047294136.1:p.Ala127Thr, XP_047294138.1:p.Ala127Thr, XP_047294139.1:p.Ala127Thr
8.
rs1490240677 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->GTAT,GTATAGAC
[Show Flanks]
- Chromosome:
- 1:149791937
(GRCh38)
1:149763494
(GRCh37)
- Canonical SPDI:
- NC_000001.11:149791937::GTAT,NC_000001.11:149791937::GTATAGAC
- Gene:
- FCGR1A (Varview), H2BC18 (Varview), LOC124904411 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GTATAGAC=0.000084/1
(
ALFA)
GTAT=0.000009/1
(GnomAD)
- HGVS:
NC_000001.11:g.149791937_149791938insGTAT, NC_000001.11:g.149791937_149791938insGTATAGAC, NW_003871055.3:g.6607350_6607351insGTAT, NW_003871055.3:g.6607350_6607351insGTATAGAC, NG_033089.1:g.25435_25436insATAC, NG_033089.1:g.25435_25436insGTCTATAC, NG_007578.1:g.14206_14207insGTAT, NG_007578.1:g.14206_14207insGTATAGAC, NM_000566.3:c.*420_*421insGTAT, NM_000566.3:c.*420_*421insGTATAGAC, NC_000001.10:g.149763493_149763494insGTAT, NC_000001.10:g.149763493_149763494insGTATAGAC
9.
rs1490183249 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 1:149785408
(GRCh38)
1:149756964
(GRCh37)
- Canonical SPDI:
- NC_000001.11:149785407:G:
- Gene:
- FCGR1A (Varview), H2BC18 (Varview), LOC124904411 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00283/197
(GnomAD)
- HGVS:
10.
rs1490131749 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-,GTGT
[Show Flanks]
- Chromosome:
- 1:149784342
(GRCh38)
1:149755898
(GRCh37)
- Canonical SPDI:
- NC_000001.11:149784332:TGTGTGTGTGT:TGTGTGTGT,NC_000001.11:149784332:TGTGTGTGTGT:TGTGTGTGTGTGT
- Gene:
- FCGR1A (Varview), H2BC18 (Varview), LOC124904411 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGT=0.00008/1
(
ALFA)
-=0.00007/1
(TOMMO)
- HGVS:
11.
rs1490020372 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 1:149784812
(GRCh38)
1:149756368
(GRCh37)
- Canonical SPDI:
- NC_000001.11:149784811:G:T
- Gene:
- FCGR1A (Varview), H2BC18 (Varview), LOC124904411 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000029/4
(GnomAD)
T=0.00006/16
(TOPMED)
T=0.000142/2
(TOMMO)
- HGVS:
12.
rs1489969190 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 1:149783801
(GRCh38)
1:149755357
(GRCh37)
- Canonical SPDI:
- NC_000001.11:149783800:T:A,NC_000001.11:149783800:T:C
- Gene:
- FCGR1A (Varview), H2BC18 (Varview), LOC124904411 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.00011/2
(TOMMO)
- HGVS:
13.
rs1489562182 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:149785634
(GRCh38)
1:149757190
(GRCh37)
- Canonical SPDI:
- NC_000001.11:149785633:C:T
- Gene:
- FCGR1A (Varview), H2BC18 (Varview), LOC124904411 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
14.
rs1489415460 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:149793124
(GRCh38)
1:149764680
(GRCh37)
- Canonical SPDI:
- NC_000001.11:149793123:C:G
- Gene:
- FCGR1A (Varview), H2BC18 (Varview), LOC124904411 (Varview)
- Functional Consequence:
- intron_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000015/4
(TOPMED)
- HGVS:
NC_000001.11:g.149793124C>G, NW_003871055.3:g.6608537C>G, NG_033089.1:g.24249G>C, NG_007578.1:g.15393C>G, NC_000001.10:g.149764680C>G, XM_047438180.1:c.85G>C, XM_047438182.1:c.85G>C, XM_047438183.1:c.85G>C, XP_047294136.1:p.Ala29Pro, XP_047294138.1:p.Ala29Pro, XP_047294139.1:p.Ala29Pro
15.
rs1489371017 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 1:149778190
(GRCh38)
1:149749746
(GRCh37)
- Canonical SPDI:
- NC_000001.11:149778189:C:
- Gene:
- LOC105371406 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
17.
rs1488980424 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:149786849
(GRCh38)
1:149758405
(GRCh37)
- Canonical SPDI:
- NC_000001.11:149786848:A:G
- Gene:
- FCGR1A (Varview), H2BC18 (Varview), LOC124904411 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
18.
rs1488503901 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:149793052
(GRCh38)
1:149764608
(GRCh37)
- Canonical SPDI:
- NC_000001.11:149793051:G:A
- Gene:
- FCGR1A (Varview), H2BC18 (Varview), LOC124904411 (Varview)
- Functional Consequence:
- intron_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
NC_000001.11:g.149793052G>A, NW_003871055.3:g.6608465G>A, NG_033089.1:g.24321C>T, NG_007578.1:g.15321G>A, NC_000001.10:g.149764608G>A, XM_047438180.1:c.157C>T, XM_047438182.1:c.157C>T, XM_047438183.1:c.157C>T, XP_047294136.1:p.Arg53Cys, XP_047294138.1:p.Arg53Cys, XP_047294139.1:p.Arg53Cys
19.
rs1488456742 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C,T
[Show Flanks]
- Chromosome:
- 1:149778083
(GRCh38)
1:149749639
(GRCh37)
- Canonical SPDI:
- NC_000001.11:149778082:G:A,NC_000001.11:149778082:G:C,NC_000001.11:149778082:G:T
- Gene:
- LOC105371406 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
NC_000001.11:g.149778083G>A, NC_000001.11:g.149778083G>C, NC_000001.11:g.149778083G>T, NW_003871055.3:g.6593496G>A, NW_003871055.3:g.6593496G>C, NW_003871055.3:g.6593496G>T, NG_007578.1:g.352G>A, NG_007578.1:g.352G>C, NG_007578.1:g.352G>T, NC_000001.10:g.149749639G>A, NC_000001.10:g.149749639G>C, NC_000001.10:g.149749639G>T
20.
rs1488402732 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:149792423
(GRCh38)
1:149763979
(GRCh37)
- Canonical SPDI:
- NC_000001.11:149792422:T:C
- Gene:
- FCGR1A (Varview), H2BC18 (Varview), LOC124904411 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS: