Links from Gene
Items: 1 to 20 of 4023
1.
rs1490913340 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 19:18533279
(GRCh38)
19:18644089
(GRCh37)
- Canonical SPDI:
- NC_000019.10:18533278:A:C
- Gene:
- FKBP8 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
2.
rs1490686609 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:18537935
(GRCh38)
19:18648745
(GRCh37)
- Canonical SPDI:
- NC_000019.10:18537934:T:C
- Gene:
- FKBP8 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
3.
rs1490644067 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:18531625
(GRCh38)
19:18642435
(GRCh37)
- Canonical SPDI:
- NC_000019.10:18531624:G:A
- Gene:
- FKBP8 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
5.
rs1490472786 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 19:18541635
(GRCh38)
19:18652445
(GRCh37)
- Canonical SPDI:
- NC_000019.10:18541634:G:A,NC_000019.10:18541634:G:C
- Gene:
- FKBP8 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
6.
rs1490455578 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:18543792
(GRCh38)
19:18654602
(GRCh37)
- Canonical SPDI:
- NC_000019.10:18543791:G:A
- Gene:
- FKBP8 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
7.
rs1490433167 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 19:18531674
(GRCh38)
19:18642484
(GRCh37)
- Canonical SPDI:
- NC_000019.10:18531673:A:T
- Gene:
- FKBP8 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_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.
rs1490429531 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:18544443
(GRCh38)
19:18655253
(GRCh37)
- Canonical SPDI:
- NC_000019.10:18544442:C:T
- Gene:
- FKBP8 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000019/5
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
9.
rs1490399799 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:18544717
(GRCh38)
19:18655527
(GRCh37)
- Canonical SPDI:
- NC_000019.10:18544716:C:T
- Gene:
- FKBP8 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
10.
rs1490079268 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:18531265
(GRCh38)
19:18642075
(GRCh37)
- Canonical SPDI:
- NC_000019.10:18531264:A:G
- Gene:
- FKBP8 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
11.
rs1489904152 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 19:18545570
(GRCh38)
19:18656380
(GRCh37)
- Canonical SPDI:
- NC_000019.10:18545569:G:T
- Gene:
- FKBP8 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
12.
rs1489336297 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:18539056
(GRCh38)
19:18649866
(GRCh37)
- Canonical SPDI:
- NC_000019.10:18539055:C:T
- Gene:
- FKBP8 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
13.
rs1489319729 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:18535194
(GRCh38)
19:18646004
(GRCh37)
- Canonical SPDI:
- NC_000019.10:18535193:A:G
- Gene:
- FKBP8 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
14.
rs1489317297 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 19:18541873
(GRCh38)
19:18652683
(GRCh37)
- Canonical SPDI:
- NC_000019.10:18541872:G:A,NC_000019.10:18541872:G:C
- Gene:
- FKBP8 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000224/1
(
ALFA)
A=0.000008/2
(GnomAD_exomes)
C=0.000014/2
(GnomAD)
C=0.000223/1
(Estonian)
- HGVS:
NC_000019.10:g.18541873G>A, NC_000019.10:g.18541873G>C, NC_000019.9:g.18652683G>A, NC_000019.9:g.18652683G>C, NM_012181.5:c.98C>T, NM_012181.5:c.98C>G, NM_012181.4:c.98C>T, NM_012181.4:c.98C>G, NM_012181.3:c.98C>T, NM_012181.3:c.98C>G, NM_001308373.2:c.98C>T, NM_001308373.2:c.98C>G, NM_001308373.1:c.98C>T, NM_001308373.1:c.98C>G, NP_036313.3:p.Ala33Val, NP_036313.3:p.Ala33Gly, NP_001295302.1:p.Ala33Val, NP_001295302.1:p.Ala33Gly
15.
rs1488938158 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:18541655
(GRCh38)
19:18652465
(GRCh37)
- Canonical SPDI:
- NC_000019.10:18541654:C:T
- Gene:
- FKBP8 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
T=0.000005/1
(GnomAD_exomes)
- HGVS:
16.
rs1488902677 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:18533763
(GRCh38)
19:18644573
(GRCh37)
- Canonical SPDI:
- NC_000019.10:18533762:T:C
- Gene:
- FKBP8 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
17.
rs1488699847 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 19:18545860
(GRCh38)
19:18656670
(GRCh37)
- Canonical SPDI:
- NC_000019.10:18545859:C:A
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
18.
rs1488511682 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:18542450
(GRCh38)
19:18653260
(GRCh37)
- Canonical SPDI:
- NC_000019.10:18542449:G:A
- Gene:
- FKBP8 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000029/4
(GnomAD)
- HGVS:
19.
rs1488415982 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 19:18543556
(GRCh38)
19:18654366
(GRCh37)
- Canonical SPDI:
- NC_000019.10:18543555:C:A,NC_000019.10:18543555:C:G,NC_000019.10:18543555:C:T
- Gene:
- FKBP8 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000019.10:g.18543556C>A, NC_000019.10:g.18543556C>G, NC_000019.10:g.18543556C>T, NC_000019.9:g.18654366C>A, NC_000019.9:g.18654366C>G, NC_000019.9:g.18654366C>T, NM_012181.5:c.-96G>T, NM_012181.5:c.-96G>C, NM_012181.5:c.-96G>A, NM_012181.4:c.-96G>T, NM_012181.4:c.-96G>C, NM_012181.4:c.-96G>A, NM_012181.3:c.-96G>T, NM_012181.3:c.-96G>C, NM_012181.3:c.-96G>A, NM_001308373.2:c.-96G>T, NM_001308373.2:c.-96G>C, NM_001308373.2:c.-96G>A, NM_001308373.1:c.-96G>T, NM_001308373.1:c.-96G>C, NM_001308373.1:c.-96G>A
20.
rs1488225616 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,T
[Show Flanks]
- Chromosome:
- 19:18533836
(GRCh38)
19:18644646
(GRCh37)
- Canonical SPDI:
- NC_000019.10:18533835:A:C,NC_000019.10:18533835:A:T
- Gene:
- FKBP8 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
C=0.000212/4
(TOMMO)
- HGVS: