Links from Gene
Items: 1 to 20 of 1000
1.
rs1491555453 has merged into rs1188321925 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTATAT>-,TTATATTTATAT,TTATATTTATATTTATAT
[Show Flanks]
- Chromosome:
- 12:48932227
(GRCh38)
12:49326010
(GRCh37)
- Canonical SPDI:
- NC_000012.12:48932221:TATATTTATAT:TATAT,NC_000012.12:48932221:TATATTTATAT:TATATTTATATTTATAT,NC_000012.12:48932221:TATATTTATAT:TATATTTATATTTATATTTATAT
- Gene:
- FKBP11 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATTTATATTTATAT=0./0
(
ALFA)
TATATT=0.01884/308
(TOMMO)
TATATT=0.04178/60
(Korea1K)
- HGVS:
2.
rs1491364721 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-,ATAT
[Show Flanks]
- Chromosome:
- 12:48932225
(GRCh38)
12:49326008
(GRCh37)
- Canonical SPDI:
- NC_000012.12:48932220:ATATAT:ATAT,NC_000012.12:48932220:ATATAT:ATATATAT
- Gene:
- FKBP11 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATAT=0./0
(
ALFA)
-=0.00008/3
(GnomAD)
- HGVS:
3.
rs1491308301 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 12:48935018
(GRCh38)
12:49328802
(GRCh37)
- Canonical SPDI:
- NC_000012.12:48935018::G
- Gene:
- FKBP11 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.00002/2
(GnomAD)
- HGVS:
4.
rs1491280207 has merged into rs1165643561 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 12:48932271
(GRCh38)
12:49326054
(GRCh37)
- Canonical SPDI:
- NC_000012.12:48932261:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000012.12:48932261:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:48932261:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:48932261:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:48932261:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:48932261:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:48932261:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:48932261:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:48932261:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:48932261:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:48932261:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:48932261:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:48932261:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:48932261:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:48932261:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:48932261:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:48932261:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:48932261:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:48932261:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:48932261:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:48932261:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:48932261:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:48932261:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:48932261:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:48932261:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- FKBP11 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTT=0./0
(
ALFA)
-=0.0262/9
(NorthernSweden)
- HGVS:
NC_000012.12:g.48932271_48932290del, NC_000012.12:g.48932272_48932290del, NC_000012.12:g.48932273_48932290del, NC_000012.12:g.48932274_48932290del, NC_000012.12:g.48932275_48932290del, NC_000012.12:g.48932276_48932290del, NC_000012.12:g.48932277_48932290del, NC_000012.12:g.48932278_48932290del, NC_000012.12:g.48932279_48932290del, NC_000012.12:g.48932280_48932290del, NC_000012.12:g.48932281_48932290del, NC_000012.12:g.48932282_48932290del, NC_000012.12:g.48932283_48932290del, NC_000012.12:g.48932284_48932290del, NC_000012.12:g.48932285_48932290del, NC_000012.12:g.48932286_48932290del, NC_000012.12:g.48932287_48932290del, NC_000012.12:g.48932288_48932290del, NC_000012.12:g.48932289_48932290del, NC_000012.12:g.48932290del, NC_000012.12:g.48932290dup, NC_000012.12:g.48932289_48932290dup, NC_000012.12:g.48932288_48932290dup, NC_000012.12:g.48932287_48932290dup, NC_000012.12:g.48932286_48932290dup, NC_000012.11:g.49326054_49326073del, NC_000012.11:g.49326055_49326073del, NC_000012.11:g.49326056_49326073del, NC_000012.11:g.49326057_49326073del, NC_000012.11:g.49326058_49326073del, NC_000012.11:g.49326059_49326073del, NC_000012.11:g.49326060_49326073del, NC_000012.11:g.49326061_49326073del, NC_000012.11:g.49326062_49326073del, NC_000012.11:g.49326063_49326073del, NC_000012.11:g.49326064_49326073del, NC_000012.11:g.49326065_49326073del, NC_000012.11:g.49326066_49326073del, NC_000012.11:g.49326067_49326073del, NC_000012.11:g.49326068_49326073del, NC_000012.11:g.49326069_49326073del, NC_000012.11:g.49326070_49326073del, NC_000012.11:g.49326071_49326073del, NC_000012.11:g.49326072_49326073del, NC_000012.11:g.49326073del, NC_000012.11:g.49326073dup, NC_000012.11:g.49326072_49326073dup, NC_000012.11:g.49326071_49326073dup, NC_000012.11:g.49326070_49326073dup, NC_000012.11:g.49326069_49326073dup
5.
rs1491211187 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 12:48935018
(GRCh38)
12:49328801
(GRCh37)
- Canonical SPDI:
- NC_000012.12:48935017:CA:
- Gene:
- FKBP11 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.0027/32
(
ALFA)
-=0.00248/68
(TOMMO)
- HGVS:
6.
rs1491180330 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,ATA,ATAC,ATATA,ATATATA,ATATATATA,ATATATATATA,ATATATATATATA,ATATATATATATATA,ATATATATATATATATA,ATATATATATATATATATA,ATATATATATATATATATATA
[Show Flanks]
- Chromosome:
- 12:48932262
(GRCh38)
12:49326046
(GRCh37)
- Canonical SPDI:
- NC_000012.12:48932262::A,NC_000012.12:48932262::ATA,NC_000012.12:48932262::ATAC,NC_000012.12:48932262::ATATA,NC_000012.12:48932262::ATATATA,NC_000012.12:48932262::ATATATATA,NC_000012.12:48932262::ATATATATATA,NC_000012.12:48932262::ATATATATATATA,NC_000012.12:48932262::ATATATATATATATA,NC_000012.12:48932262::ATATATATATATATATA,NC_000012.12:48932262::ATATATATATATATATATA,NC_000012.12:48932262::ATATATATATATATATATATA
- Gene:
- FKBP11 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATA=0./0
(
ALFA)
ATATATATATATATA=0.03481/11
(NorthernSweden)
- HGVS:
NC_000012.12:g.48932262_48932263insA, NC_000012.12:g.48932262_48932263insATA, NC_000012.12:g.48932262_48932263insATAC, NC_000012.12:g.48932262_48932263insATATA, NC_000012.12:g.48932262_48932263insATATATA, NC_000012.12:g.48932262_48932263insATATATATA, NC_000012.12:g.48932262_48932263insATATATATATA, NC_000012.12:g.48932262_48932263insATATATATATATA, NC_000012.12:g.48932262_48932263insATATATATATATATA, NC_000012.12:g.48932262_48932263insATATATATATATATATA, NC_000012.12:g.48932262_48932263insATATATATATATATATATA, NC_000012.12:g.48932262_48932263insATATATATATATATATATATA, NC_000012.11:g.49326045_49326046insA, NC_000012.11:g.49326045_49326046insATA, NC_000012.11:g.49326045_49326046insATAC, NC_000012.11:g.49326045_49326046insATATA, NC_000012.11:g.49326045_49326046insATATATA, NC_000012.11:g.49326045_49326046insATATATATA, NC_000012.11:g.49326045_49326046insATATATATATA, NC_000012.11:g.49326045_49326046insATATATATATATA, NC_000012.11:g.49326045_49326046insATATATATATATATA, NC_000012.11:g.49326045_49326046insATATATATATATATATA, NC_000012.11:g.49326045_49326046insATATATATATATATATATA, NC_000012.11:g.49326045_49326046insATATATATATATATATATATA
7.
rs1491013879 has merged into rs35034955 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AGAG>-,AG,AGAGAG,AGAGAGAG
[Show Flanks]
- Chromosome:
- 12:48938676
(GRCh38)
12:49332459
(GRCh37)
- Canonical SPDI:
- NC_000012.12:48938668:GAGAGAGAGAG:GAGAGAG,NC_000012.12:48938668:GAGAGAGAGAG:GAGAGAGAG,NC_000012.12:48938668:GAGAGAGAGAG:GAGAGAGAGAGAG,NC_000012.12:48938668:GAGAGAGAGAG:GAGAGAGAGAGAGAG
- Gene:
- ARF3 (Varview), FKBP11 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GAGAGAGAGAGAGAG=0./0
(
ALFA)
-=0.000015/4
(TOPMED)
GA=0.380387/1905
(1000Genomes)
GA=0.463428/849
(Korea1K)
GA=0.475/19
(GENOME_DK)
GA=0.478339/2142
(Estonian)
-=0.495966/8312
(TOMMO)
- HGVS:
NC_000012.12:g.48938670AG[3], NC_000012.12:g.48938670AG[4], NC_000012.12:g.48938670AG[6], NC_000012.12:g.48938670AG[7], NC_000012.11:g.49332453AG[3], NC_000012.11:g.49332453AG[4], NC_000012.11:g.49332453AG[6], NC_000012.11:g.49332453AG[7], NM_001659.3:c.*269TC[3], NM_001659.3:c.*269TC[4], NM_001659.3:c.*269TC[6], NM_001659.3:c.*269TC[7], NM_001659.2:c.*269TC[3], NM_001659.2:c.*269TC[4], NM_001659.2:c.*269TC[6], NM_001659.2:c.*269TC[7], XM_024448972.2:c.*269TC[3], XM_024448972.2:c.*269TC[4], XM_024448972.2:c.*269TC[6], XM_024448972.2:c.*269TC[7], XM_024448972.1:c.*269TC[3], XM_024448972.1:c.*269TC[4], XM_024448972.1:c.*269TC[6], XM_024448972.1:c.*269TC[7], XM_005268856.2:c.*269TC[3], XM_005268856.2:c.*269TC[4], XM_005268856.2:c.*269TC[6], XM_005268856.2:c.*269TC[7], XM_005268856.1:c.*269TC[3], XM_005268856.1:c.*269TC[4], XM_005268856.1:c.*269TC[6], XM_005268856.1:c.*269TC[7], XM_047428820.1:c.*269TC[3], XM_047428820.1:c.*269TC[4], XM_047428820.1:c.*269TC[6], XM_047428820.1:c.*269TC[7], XM_047428939.1:c.-2940TC[3], XM_047428939.1:c.-2940TC[4], XM_047428939.1:c.-2940TC[6], XM_047428939.1:c.-2940TC[7], XM_047428819.1:c.*269TC[3], XM_047428819.1:c.*269TC[4], XM_047428819.1:c.*269TC[6], XM_047428819.1:c.*269TC[7]
8.
rs1490988506 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:48942663
(GRCh38)
12:49336446
(GRCh37)
- Canonical SPDI:
- NC_000012.12:48942662:T:C
- Gene:
- ARF3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
9.
rs1490924047 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATCT>-
[Show Flanks]
- Chromosome:
- 12:48928816
(GRCh38)
12:49322599
(GRCh37)
- Canonical SPDI:
- NC_000012.12:48928812:TCTATCT:TCT
- Gene:
- FKBP11 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TCT=0.000084/1
(
ALFA)
-=0.000016/2
(GnomAD)
- HGVS:
10.
rs1490440191 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 12:48928843
(GRCh38)
12:49322626
(GRCh37)
- Canonical SPDI:
- NC_000012.12:48928842:G:T
- Gene:
- FKBP11 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
T=0.00107/30
(TOMMO)
- HGVS:
11.
rs1490439963 has merged into rs79932575 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,TT,TTTT
[Show Flanks]
- Chromosome:
- 12:48928357
(GRCh38)
12:49322140
(GRCh37)
- Canonical SPDI:
- NC_000012.12:48928348:TTTTTTTTTTT:TTTTTTTT,NC_000012.12:48928348:TTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:48928348:TTTTTTTTTTT:TTTTTTTTTTTT
- Gene:
- FKBP11 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTT=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.000312/2
(1000Genomes)
-=0.001372/23
(TOMMO)
- HGVS:
12.
rs1490418752 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 12:48957806
(GRCh38)
12:49351589
(GRCh37)
- Canonical SPDI:
- NC_000012.12:48957805:T:A,NC_000012.12:48957805:T:C
- Gene:
- ARF3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
13.
rs1490386446 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:48943318
(GRCh38)
12:49337101
(GRCh37)
- Canonical SPDI:
- NC_000012.12:48943317:T:C
- Gene:
- ARF3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
14.
rs1490293926 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 12:48950066
(GRCh38)
12:49343849
(GRCh37)
- Canonical SPDI:
- NC_000012.12:48950065:G:C
- Gene:
- ARF3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
15.
rs1490099768 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAGAG>-
[Show Flanks]
- Chromosome:
- 12:48949041
(GRCh38)
12:49342824
(GRCh37)
- Canonical SPDI:
- NC_000012.12:48949036:AGAGAAGAG:AGAG
- Gene:
- ARF3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AGAG=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
16.
rs1490071621 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 12:48934510
(GRCh38)
12:49328293
(GRCh37)
- Canonical SPDI:
- NC_000012.12:48934509:G:C
- Gene:
- FKBP11 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,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:
17.
rs1490040638 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:48933512
(GRCh38)
12:49327295
(GRCh37)
- Canonical SPDI:
- NC_000012.12:48933511:G:A
- Gene:
- FKBP11 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000019/5
(TOPMED)
- HGVS:
18.
rs1489927059 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 12:48957494
(GRCh38)
12:49351277
(GRCh37)
- Canonical SPDI:
- NC_000012.12:48957493:C:A
- Gene:
- ARF3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
20.
rs1489708101 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:48957425
(GRCh38)
12:49351208
(GRCh37)
- Canonical SPDI:
- NC_000012.12:48957424:C:T
- Gene:
- ARF3 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS: