Links from Gene
Items: 1 to 20 of 1251
1.
rs1490280847 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:81462907
(GRCh38)
8:82375142
(GRCh37)
- Canonical SPDI:
- NC_000008.11:81462906:A:G
- Gene:
- FABP9 (Varview), LOC101927118 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000177/3
(TOMMO)
- HGVS:
2.
rs1489048054 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 8:81462647
(GRCh38)
8:82374882
(GRCh37)
- Canonical SPDI:
- NC_000008.11:81462646:T:C
- Gene:
- FABP9 (Varview), LOC101927118 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.00003/8
(TOPMED)
C=0.000036/5
(GnomAD)
- HGVS:
3.
rs1489000580 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 8:81461405
(GRCh38)
8:82373640
(GRCh37)
- Canonical SPDI:
- NC_000008.11:81461404:C:G
- Gene:
- FABP9 (Varview), LOC101927118 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
G=0.000014/2
(GnomAD)
- HGVS:
4.
rs1488389960 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 8:81460192
(GRCh38)
8:82372427
(GRCh37)
- Canonical SPDI:
- NC_000008.11:81460191:G:A,NC_000008.11:81460191:G:C
- Gene:
- FABP9 (Varview), LOC101927118 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.00016/1
(1000Genomes)
- HGVS:
5.
rs1488160858 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:81459337
(GRCh38)
8:82371572
(GRCh37)
- Canonical SPDI:
- NC_000008.11:81459336:C:T
- Gene:
- FABP9 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
6.
rs1488032711 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:81462265
(GRCh38)
8:82374500
(GRCh37)
- Canonical SPDI:
- NC_000008.11:81462264:A:G
- Gene:
- FABP9 (Varview), LOC101927118 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
7.
rs1487957432 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 8:81462640
(GRCh38)
8:82374875
(GRCh37)
- Canonical SPDI:
- NC_000008.11:81462639:T:G
- Gene:
- FABP9 (Varview), LOC101927118 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000029/4
(GnomAD)
- HGVS:
8.
rs1486836718 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:81458323
(GRCh38)
8:82370558
(GRCh37)
- Canonical SPDI:
- NC_000008.11:81458322:A:G
- Gene:
- FABP9 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000015/4
(TOPMED)
G=0.000029/4
(GnomAD)
- HGVS:
9.
rs1486617007 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:81462797
(GRCh38)
8:82375032
(GRCh37)
- Canonical SPDI:
- NC_000008.11:81462796:A:G
- Gene:
- FABP9 (Varview), LOC101927118 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
10.
rs1486394307 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 8:81461731
(GRCh38)
8:82373966
(GRCh37)
- Canonical SPDI:
- NC_000008.11:81461730:G:A,NC_000008.11:81461730:G:C
- Gene:
- FABP9 (Varview), LOC101927118 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
11.
rs1486064189 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:81461225
(GRCh38)
8:82373460
(GRCh37)
- Canonical SPDI:
- NC_000008.11:81461224:A:G
- Gene:
- FABP9 (Varview), LOC101927118 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
13.
rs1484429685 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:81460618
(GRCh38)
8:82372853
(GRCh37)
- Canonical SPDI:
- NC_000008.11:81460617:A:G
- Gene:
- FABP9 (Varview), LOC101927118 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
14.
rs1484263669 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 8:81463273
(GRCh38)
8:82375508
(GRCh37)
- Canonical SPDI:
- NC_000008.11:81463272:T:C
- Gene:
- FABP9 (Varview), LOC101927118 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000054/1
(
ALFA)
C=0.000053/14
(TOPMED)
C=0.000078/11
(GnomAD)
C=0.000223/1
(Estonian)
- HGVS:
15.
rs1484045094 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAATCTAT>-
[Show Flanks]
- Chromosome:
- 8:81460487
(GRCh38)
8:82372722
(GRCh37)
- Canonical SPDI:
- NC_000008.11:81460481:TCTATAAATCTAT:TCTAT
- Gene:
- FABP9 (Varview), LOC101927118 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCTAT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
16.
rs1483509135 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 8:81459163
(GRCh38)
8:82371398
(GRCh37)
- Canonical SPDI:
- NC_000008.11:81459162:A:T
- Gene:
- FABP9 (Varview)
- Functional Consequence:
- splice_donor_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
17.
rs1482725506 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 8:81459776
(GRCh38)
8:82372011
(GRCh37)
- Canonical SPDI:
- NC_000008.11:81459775:T:C
- Gene:
- FABP9 (Varview), LOC101927118 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000021/3
(GnomAD)
- HGVS:
18.
rs1482510854 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 8:81458585
(GRCh38)
8:82370821
(GRCh37)
- Canonical SPDI:
- NC_000008.11:81458585:TTT:TTTT
- Gene:
- FABP9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTT=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
19.
rs1482384285 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 8:81461614
(GRCh38)
8:82373849
(GRCh37)
- Canonical SPDI:
- NC_000008.11:81461613:G:A,NC_000008.11:81461613:G:T
- Gene:
- FABP9 (Varview), LOC101927118 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
20.
rs1482207650 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 8:81462948
(GRCh38)
8:82375183
(GRCh37)
- Canonical SPDI:
- NC_000008.11:81462947:T:G
- Gene:
- FABP9 (Varview), LOC101927118 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS: