Links from Gene
Items: 1 to 20 of 12714
2.
rs1491477484 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 3:37381645
(GRCh38)
3:37423136
(GRCh37)
- Canonical SPDI:
- NC_000003.12:37381644:AT:
- Gene:
- APRG1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
3.
rs1491374827 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 3:37404468
(GRCh38)
3:37445959
(GRCh37)
- Canonical SPDI:
- NC_000003.12:37404467:TT:
- Gene:
- APRG1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00046/8
(TOMMO)
-=0.000514/59
(GnomAD)
- HGVS:
4.
rs1491354402 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CAGTCATA
[Show Flanks]
- Chromosome:
- 3:37377414
(GRCh38)
3:37418906
(GRCh37)
- Canonical SPDI:
- NC_000003.12:37377414:TACAGTCATA:TACAGTCATACAGTCATA
- Validated:
- by frequency,by alfa
- MAF:
TACAGTCATACAGTCATA=0./0
(
ALFA)
TACAGTCA=0.000015/4
(TOPMED)
- HGVS:
5.
rs1491250625 has merged into rs34533960 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAA>-,A,AA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:37391956
(GRCh38)
3:37433447
(GRCh37)
- Canonical SPDI:
- NC_000003.12:37391944:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:37391944:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:37391944:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:37391944:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:37391944:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:37391944:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:37391944:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:37391944:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:37391944:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:37391944:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:37391944:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:37391944:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:37391944:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:37391944:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:37391944:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:37391944:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- APRG1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000003.12:g.37391956_37391966del, NC_000003.12:g.37391957_37391966del, NC_000003.12:g.37391958_37391966del, NC_000003.12:g.37391960_37391966del, NC_000003.12:g.37391962_37391966del, NC_000003.12:g.37391963_37391966del, NC_000003.12:g.37391964_37391966del, NC_000003.12:g.37391965_37391966del, NC_000003.12:g.37391966del, NC_000003.12:g.37391966dup, NC_000003.12:g.37391965_37391966dup, NC_000003.12:g.37391964_37391966dup, NC_000003.12:g.37391963_37391966dup, NC_000003.12:g.37391962_37391966dup, NC_000003.12:g.37391959_37391966dup, NC_000003.12:g.37391956_37391966dup, NC_000003.11:g.37433447_37433457del, NC_000003.11:g.37433448_37433457del, NC_000003.11:g.37433449_37433457del, NC_000003.11:g.37433451_37433457del, NC_000003.11:g.37433453_37433457del, NC_000003.11:g.37433454_37433457del, NC_000003.11:g.37433455_37433457del, NC_000003.11:g.37433456_37433457del, NC_000003.11:g.37433457del, NC_000003.11:g.37433457dup, NC_000003.11:g.37433456_37433457dup, NC_000003.11:g.37433455_37433457dup, NC_000003.11:g.37433454_37433457dup, NC_000003.11:g.37433453_37433457dup, NC_000003.11:g.37433450_37433457dup, NC_000003.11:g.37433447_37433457dup
6.
rs1491154361 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 3:37377414
(GRCh38)
3:37418905
(GRCh37)
- Canonical SPDI:
- NC_000003.12:37377413:TT:
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
7.
rs1491110907 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,AA
[Show Flanks]
- Chromosome:
- 3:37391943
(GRCh38)
3:37433435
(GRCh37)
- Canonical SPDI:
- NC_000003.12:37391943::A,NC_000003.12:37391943::AA
- Gene:
- APRG1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
A=0.00103/29
(TOMMO)
A=0.00116/59
(GnomAD)
- HGVS:
8.
rs1491055974 has merged into rs34646939 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 3:37414097
(GRCh38)
3:37455588
(GRCh37)
- Canonical SPDI:
- NC_000003.12:37414085:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:37414085:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:37414085:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:37414085:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:37414085:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:37414085:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:37414085:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:37414085:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:37414085:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:37414085:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:37414085:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:37414085:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:37414085:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- APRG1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
-=0.2352/1178
(1000Genomes)
- HGVS:
NC_000003.12:g.37414097_37414103del, NC_000003.12:g.37414098_37414103del, NC_000003.12:g.37414099_37414103del, NC_000003.12:g.37414100_37414103del, NC_000003.12:g.37414101_37414103del, NC_000003.12:g.37414102_37414103del, NC_000003.12:g.37414103del, NC_000003.12:g.37414103dup, NC_000003.12:g.37414102_37414103dup, NC_000003.12:g.37414101_37414103dup, NC_000003.12:g.37414100_37414103dup, NC_000003.12:g.37414099_37414103dup, NC_000003.12:g.37414095_37414103dup, NC_000003.11:g.37455588_37455594del, NC_000003.11:g.37455589_37455594del, NC_000003.11:g.37455590_37455594del, NC_000003.11:g.37455591_37455594del, NC_000003.11:g.37455592_37455594del, NC_000003.11:g.37455593_37455594del, NC_000003.11:g.37455594del, NC_000003.11:g.37455594dup, NC_000003.11:g.37455593_37455594dup, NC_000003.11:g.37455592_37455594dup, NC_000003.11:g.37455591_37455594dup, NC_000003.11:g.37455590_37455594dup, NC_000003.11:g.37455586_37455594dup
9.
rs1490961632 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 3:37407308
(GRCh38)
3:37448799
(GRCh37)
- Canonical SPDI:
- NC_000003.12:37407307:T:A,NC_000003.12:37407307:T:C
- Gene:
- APRG1 (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:
10.
rs1490935844 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 3:37406104
(GRCh38)
3:37447595
(GRCh37)
- Canonical SPDI:
- NC_000003.12:37406103:C:
- Gene:
- APRG1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000036/5
(GnomAD)
-=0.000038/10
(TOPMED)
- HGVS:
11.
rs1490846649 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TAAT
[Show Flanks]
- Chromosome:
- 3:37424039
(GRCh38)
3:37465531
(GRCh37)
- Canonical SPDI:
- NC_000003.12:37424039:TAAT:TAATTAAT
- Gene:
- APRG1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TAATTAAT=0./0
(
ALFA)
TAAT=0.000065/7
(GnomAD)
- HGVS:
13.
rs1490788950 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:37432393
(GRCh38)
3:37473884
(GRCh37)
- Canonical SPDI:
- NC_000003.12:37432392:A:G
- Gene:
- APRG1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
14.
rs1490723244 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 3:37383608
(GRCh38)
3:37425099
(GRCh37)
- Canonical SPDI:
- NC_000003.12:37383607:C:A
- Gene:
- APRG1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
16.
rs1490575852 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:37378226
(GRCh38)
3:37419717
(GRCh37)
- Canonical SPDI:
- NC_000003.12:37378225:C:T
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
17.
rs1490541002 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:37414412
(GRCh38)
3:37455903
(GRCh37)
- Canonical SPDI:
- NC_000003.12:37414411:A:G
- Gene:
- APRG1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
18.
rs1490497625 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:37390840
(GRCh38)
3:37432331
(GRCh37)
- Canonical SPDI:
- NC_000003.12:37390839:T:C
- Gene:
- APRG1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
19.
rs1490462271 has merged into rs528731149 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT
[Show Flanks]
- Chromosome:
- 3:37431596
(GRCh38)
3:37473087
(GRCh37)
- Canonical SPDI:
- NC_000003.12:37431583:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:37431583:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:37431583:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:37431583:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:37431583:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:37431583:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:37431583:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:37431583:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
- Gene:
- APRG1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
T=0.00167/1
(NorthernSweden)
-=0.1/4
(GENOME_DK)
-=0.18111/907
(1000Genomes)
- HGVS:
NC_000003.12:g.37431596_37431600del, NC_000003.12:g.37431597_37431600del, NC_000003.12:g.37431598_37431600del, NC_000003.12:g.37431599_37431600del, NC_000003.12:g.37431600del, NC_000003.12:g.37431600dup, NC_000003.12:g.37431599_37431600dup, NC_000003.12:g.37431598_37431600dup, NC_000003.11:g.37473087_37473091del, NC_000003.11:g.37473088_37473091del, NC_000003.11:g.37473089_37473091del, NC_000003.11:g.37473090_37473091del, NC_000003.11:g.37473091del, NC_000003.11:g.37473091dup, NC_000003.11:g.37473090_37473091dup, NC_000003.11:g.37473089_37473091dup, NW_025791771.1:g.1435_1439del, NW_025791771.1:g.1436_1439del, NW_025791771.1:g.1437_1439del, NW_025791771.1:g.1438_1439del, NW_025791771.1:g.1439del, NW_025791771.1:g.1439dup, NW_025791771.1:g.1438_1439dup, NW_025791771.1:g.1437_1439dup
20.
rs1490443397 has merged into rs34533960 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAA>-,A,AA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:37391956
(GRCh38)
3:37433447
(GRCh37)
- Canonical SPDI:
- NC_000003.12:37391944:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:37391944:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:37391944:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:37391944:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:37391944:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:37391944:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:37391944:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:37391944:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:37391944:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:37391944:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:37391944:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:37391944:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:37391944:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:37391944:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:37391944:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:37391944:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- APRG1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000003.12:g.37391956_37391966del, NC_000003.12:g.37391957_37391966del, NC_000003.12:g.37391958_37391966del, NC_000003.12:g.37391960_37391966del, NC_000003.12:g.37391962_37391966del, NC_000003.12:g.37391963_37391966del, NC_000003.12:g.37391964_37391966del, NC_000003.12:g.37391965_37391966del, NC_000003.12:g.37391966del, NC_000003.12:g.37391966dup, NC_000003.12:g.37391965_37391966dup, NC_000003.12:g.37391964_37391966dup, NC_000003.12:g.37391963_37391966dup, NC_000003.12:g.37391962_37391966dup, NC_000003.12:g.37391959_37391966dup, NC_000003.12:g.37391956_37391966dup, NC_000003.11:g.37433447_37433457del, NC_000003.11:g.37433448_37433457del, NC_000003.11:g.37433449_37433457del, NC_000003.11:g.37433451_37433457del, NC_000003.11:g.37433453_37433457del, NC_000003.11:g.37433454_37433457del, NC_000003.11:g.37433455_37433457del, NC_000003.11:g.37433456_37433457del, NC_000003.11:g.37433457del, NC_000003.11:g.37433457dup, NC_000003.11:g.37433456_37433457dup, NC_000003.11:g.37433455_37433457dup, NC_000003.11:g.37433454_37433457dup, NC_000003.11:g.37433453_37433457dup, NC_000003.11:g.37433450_37433457dup, NC_000003.11:g.37433447_37433457dup