Links from Gene
Items: 1 to 20 of 1000
2.
rs1491140355 has merged into rs35394943 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 19:51752848
(GRCh38)
19:52256101
(GRCh37)
- Canonical SPDI:
- NC_000019.10:51752838:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000019.10:51752838:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:51752838:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:51752838:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:51752838:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:51752838:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:51752838:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:51752838:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:51752838:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:51752838:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:51752838:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:51752838:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51752838:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51752838:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51752838:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51752838:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51752838:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51752838:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51752838:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51752838:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- FPR1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0./0
(
ALFA)
AAA=0.4862/2435
(1000Genomes)
- HGVS:
NC_000019.10:g.51752848_51752861del, NC_000019.10:g.51752850_51752861del, NC_000019.10:g.51752851_51752861del, NC_000019.10:g.51752852_51752861del, NC_000019.10:g.51752853_51752861del, NC_000019.10:g.51752854_51752861del, NC_000019.10:g.51752855_51752861del, NC_000019.10:g.51752856_51752861del, NC_000019.10:g.51752857_51752861del, NC_000019.10:g.51752858_51752861del, NC_000019.10:g.51752859_51752861del, NC_000019.10:g.51752860_51752861del, NC_000019.10:g.51752861del, NC_000019.10:g.51752861dup, NC_000019.10:g.51752860_51752861dup, NC_000019.10:g.51752859_51752861dup, NC_000019.10:g.51752858_51752861dup, NC_000019.10:g.51752854_51752861dup, NC_000019.10:g.51752851_51752861dup, NC_000019.10:g.51752839_51752861A[25]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000019.9:g.52256101_52256114del, NC_000019.9:g.52256103_52256114del, NC_000019.9:g.52256104_52256114del, NC_000019.9:g.52256105_52256114del, NC_000019.9:g.52256106_52256114del, NC_000019.9:g.52256107_52256114del, NC_000019.9:g.52256108_52256114del, NC_000019.9:g.52256109_52256114del, NC_000019.9:g.52256110_52256114del, NC_000019.9:g.52256111_52256114del, NC_000019.9:g.52256112_52256114del, NC_000019.9:g.52256113_52256114del, NC_000019.9:g.52256114del, NC_000019.9:g.52256114dup, NC_000019.9:g.52256113_52256114dup, NC_000019.9:g.52256112_52256114dup, NC_000019.9:g.52256111_52256114dup, NC_000019.9:g.52256107_52256114dup, NC_000019.9:g.52256104_52256114dup, NC_000019.9:g.52256092_52256114A[25]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_023426.1:g.4046_4059del, NG_023426.1:g.4048_4059del, NG_023426.1:g.4049_4059del, NG_023426.1:g.4050_4059del, NG_023426.1:g.4051_4059del, NG_023426.1:g.4052_4059del, NG_023426.1:g.4053_4059del, NG_023426.1:g.4054_4059del, NG_023426.1:g.4055_4059del, NG_023426.1:g.4056_4059del, NG_023426.1:g.4057_4059del, NG_023426.1:g.4058_4059del, NG_023426.1:g.4059del, NG_023426.1:g.4059dup, NG_023426.1:g.4058_4059dup, NG_023426.1:g.4057_4059dup, NG_023426.1:g.4056_4059dup, NG_023426.1:g.4052_4059dup, NG_023426.1:g.4049_4059dup, NG_023426.1:g.4037_4059T[40]GTTTTTTTTTTTTTTTTTTTTTTTTT[1]
3.
rs1490965387 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:51745532
(GRCh38)
19:52248785
(GRCh37)
- Canonical SPDI:
- NC_000019.10:51745531:C:T
- Gene:
- FPR1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
C=0.5/1
(SGDP_PRJ)
- HGVS:
4.
rs1490868300 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:51747525
(GRCh38)
19:52250778
(GRCh37)
- Canonical SPDI:
- NC_000019.10:51747524:C:T
- Gene:
- FPR1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
T=0.000007/1
(GnomAD)
- HGVS:
5.
rs1489945041 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 19:51746382
(GRCh38)
19:52249635
(GRCh37)
- Canonical SPDI:
- NC_000019.10:51746381:G:A,NC_000019.10:51746381:G:C
- Gene:
- FPR1 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Clinical significance:
- uncertain-significance
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000068/3
(
ALFA)
A=0.000008/2
(GnomAD_exomes)
- HGVS:
NC_000019.10:g.51746382G>A, NC_000019.10:g.51746382G>C, NC_000019.9:g.52249635G>A, NC_000019.9:g.52249635G>C, NG_023426.1:g.10516C>T, NG_023426.1:g.10516C>G, NM_002029.4:c.613C>T, NM_002029.4:c.613C>G, NM_002029.3:c.613C>T, NM_002029.3:c.613C>G, NM_001193306.2:c.613C>T, NM_001193306.2:c.613C>G, NM_001193306.1:c.613C>T, NM_001193306.1:c.613C>G, NP_002020.1:p.Arg205Trp, NP_002020.1:p.Arg205Gly, NP_001180235.1:p.Arg205Trp, NP_001180235.1:p.Arg205Gly
6.
rs1489911800 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 19:51751255
(GRCh38)
19:52254509
(GRCh37)
- Canonical SPDI:
- NC_000019.10:51751255:CCCCC:CCCCCC
- Gene:
- FPR1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCCC=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
7.
rs1489884571 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 19:51749371
(GRCh38)
19:52252624
(GRCh37)
- Canonical SPDI:
- NC_000019.10:51749370:C:A,NC_000019.10:51749370:C:G,NC_000019.10:51749370:C:T
- Gene:
- FPR1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
8.
rs1489707199 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:51746329
(GRCh38)
19:52249582
(GRCh37)
- Canonical SPDI:
- NC_000019.10:51746328:C:T
- Gene:
- FPR1 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by cluster
- MAF:
T=0.000004/1
(GnomAD_exomes)
T=0.000007/1
(GnomAD)
- HGVS:
9.
rs1489197408 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 19:51752349
(GRCh38)
19:52255602
(GRCh37)
- Canonical SPDI:
- NC_000019.10:51752348:A:T
- Gene:
- FPR1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
10.
rs1489046687 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:51752357
(GRCh38)
19:52255610
(GRCh37)
- Canonical SPDI:
- NC_000019.10:51752356:T:C
- Gene:
- FPR1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000015/4
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS:
11.
rs1488984663 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:51750289
(GRCh38)
19:52253542
(GRCh37)
- Canonical SPDI:
- NC_000019.10:51750288:T:C
- Gene:
- FPR1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
13.
rs1488684290 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:51751429
(GRCh38)
19:52254682
(GRCh37)
- Canonical SPDI:
- NC_000019.10:51751428:C:T
- Gene:
- FPR1 (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:
14.
rs1488586831 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:51750324
(GRCh38)
19:52253577
(GRCh37)
- Canonical SPDI:
- NC_000019.10:51750323:T:C
- Gene:
- FPR1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
15.
rs1487740158 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:51750017
(GRCh38)
19:52253270
(GRCh37)
- Canonical SPDI:
- NC_000019.10:51750016:C:T
- Gene:
- FPR1 (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:
16.
rs1487703935 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:51750998
(GRCh38)
19:52254251
(GRCh37)
- Canonical SPDI:
- NC_000019.10:51750997:G:A
- Gene:
- FPR1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
17.
rs1486757327 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 19:51749550
(GRCh38)
19:52252803
(GRCh37)
- Canonical SPDI:
- NC_000019.10:51749549:A:C
- Gene:
- FPR1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
18.
rs1485795015 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:51751929
(GRCh38)
19:52255182
(GRCh37)
- Canonical SPDI:
- NC_000019.10:51751928:G:A
- Gene:
- FPR1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000015/4
(TOPMED)
- HGVS:
20.
rs1483890230 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:51747388
(GRCh38)
19:52250641
(GRCh37)
- Canonical SPDI:
- NC_000019.10:51747387:T:C
- Gene:
- FPR1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS: