Links from Gene
Items: 1 to 20 of 1000
1.
rs1490983778 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 4:15940736
(GRCh38)
4:15942359
(GRCh37)
- Canonical SPDI:
- NC_000004.12:15940735:A:C
- Gene:
- FGFBP1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
2.
rs1490961851 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:15938301
(GRCh38)
4:15939924
(GRCh37)
- Canonical SPDI:
- NC_000004.12:15938300:T:C
- Gene:
- FGFBP1 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000021/3
(GnomAD)
C=0.000023/6
(TOPMED)
C=0.000156/1
(1000Genomes)
- HGVS:
3.
rs1490435745 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:15936865
(GRCh38)
4:15938488
(GRCh37)
- Canonical SPDI:
- NC_000004.12:15936864:G:A
- Gene:
- FGFBP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
4.
rs1490144971 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 4:15938643
(GRCh38)
4:15940266
(GRCh37)
- Canonical SPDI:
- NC_000004.12:15938642:A:G,NC_000004.12:15938642:A:T
- Gene:
- FGFBP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
5.
rs1489541134 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:15940232
(GRCh38)
4:15941855
(GRCh37)
- Canonical SPDI:
- NC_000004.12:15940231:T:C
- Gene:
- FGFBP1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
7.
rs1488205436 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:15940119
(GRCh38)
4:15941742
(GRCh37)
- Canonical SPDI:
- NC_000004.12:15940118:C:T
- Gene:
- FGFBP1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
8.
rs1487575494 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:15936854
(GRCh38)
4:15938477
(GRCh37)
- Canonical SPDI:
- NC_000004.12:15936853:C:T
- Gene:
- FGFBP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
9.
rs1487123563 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTCA>-
[Show Flanks]
- Chromosome:
- 4:15940528
(GRCh38)
4:15942151
(GRCh37)
- Canonical SPDI:
- NC_000004.12:15940525:CACTCA:CA
- Gene:
- FGFBP1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CA=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.000036/1
(TOMMO)
- HGVS:
10.
rs1486837795 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:15936103
(GRCh38)
4:15937726
(GRCh37)
- Canonical SPDI:
- NC_000004.12:15936102:T:C
- Gene:
- FGFBP1 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
11.
rs1486565262 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACA>-,CA
[Show Flanks]
- Chromosome:
- 4:15940518
(GRCh38)
4:15942141
(GRCh37)
- Canonical SPDI:
- NC_000004.12:15940512:ACACACACA:ACACA,NC_000004.12:15940512:ACACACACA:ACACACA
- Gene:
- FGFBP1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACA=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
12.
rs1486395047 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 4:15936665
(GRCh38)
4:15938288
(GRCh37)
- Canonical SPDI:
- NC_000004.12:15936664:A:C
- Gene:
- FGFBP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000005/1
(GnomAD_exomes)
- HGVS:
13.
rs1485929250 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:15936478
(GRCh38)
4:15938101
(GRCh37)
- Canonical SPDI:
- NC_000004.12:15936477:C:T
- Gene:
- FGFBP1 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
T=0.000008/2
(TOPMED)
- HGVS:
15.
rs1485811072 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:15938122
(GRCh38)
4:15939745
(GRCh37)
- Canonical SPDI:
- NC_000004.12:15938121:A:G
- Gene:
- FGFBP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
16.
rs1485720467 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:15938999
(GRCh38)
4:15940622
(GRCh37)
- Canonical SPDI:
- NC_000004.12:15938998:G:A
- Gene:
- FGFBP1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000021/3
(GnomAD)
A=0.000312/2
(1000Genomes)
- HGVS:
17.
rs1485643135 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:15935720
(GRCh38)
4:15937343
(GRCh37)
- Canonical SPDI:
- NC_000004.12:15935719:C:T
- Gene:
- FGFBP1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000019/5
(TOPMED)
- HGVS:
18.
rs1485450305 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:15935299
(GRCh38)
4:15936922
(GRCh37)
- Canonical SPDI:
- NC_000004.12:15935298:G:A
- Gene:
- FGFBP1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
19.
rs1484010287 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:15936131
(GRCh38)
4:15937754
(GRCh37)
- Canonical SPDI:
- NC_000004.12:15936130:T:C
- Gene:
- FGFBP1 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
C=0.000035/1
(TOMMO)
- HGVS:
20.
rs1483985219 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:15938026
(GRCh38)
4:15939649
(GRCh37)
- Canonical SPDI:
- NC_000004.12:15938025:T:C
- Gene:
- FGFBP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS: