Links from Gene
Items: 1 to 20 of 13685
1.
rs1491450561 has merged into rs1169680816 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 15:78806136
(GRCh38)
15:79098478
(GRCh37)
- Canonical SPDI:
- NC_000015.10:78806127:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000015.10:78806127:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000015.10:78806127:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:78806127:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:78806127:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:78806127:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:78806127:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:78806127:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:78806127:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:78806127:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:78806127:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:78806127:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:78806127:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:78806127:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:78806127:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:78806127:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:78806127:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:78806127:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:78806127:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:78806127:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:78806127:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:78806127:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:78806127:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:78806127:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:78806127:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:78806127:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ADAMTS7 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000015.10:g.78806136_78806155del, NC_000015.10:g.78806137_78806155del, NC_000015.10:g.78806138_78806155del, NC_000015.10:g.78806139_78806155del, NC_000015.10:g.78806140_78806155del, NC_000015.10:g.78806141_78806155del, NC_000015.10:g.78806142_78806155del, NC_000015.10:g.78806143_78806155del, NC_000015.10:g.78806144_78806155del, NC_000015.10:g.78806145_78806155del, NC_000015.10:g.78806146_78806155del, NC_000015.10:g.78806147_78806155del, NC_000015.10:g.78806148_78806155del, NC_000015.10:g.78806149_78806155del, NC_000015.10:g.78806150_78806155del, NC_000015.10:g.78806151_78806155del, NC_000015.10:g.78806152_78806155del, NC_000015.10:g.78806153_78806155del, NC_000015.10:g.78806154_78806155del, NC_000015.10:g.78806155del, NC_000015.10:g.78806155dup, NC_000015.10:g.78806154_78806155dup, NC_000015.10:g.78806153_78806155dup, NC_000015.10:g.78806152_78806155dup, NC_000015.10:g.78806151_78806155dup, NC_000015.10:g.78806149_78806155dup, NC_000015.9:g.79098478_79098497del, NC_000015.9:g.79098479_79098497del, NC_000015.9:g.79098480_79098497del, NC_000015.9:g.79098481_79098497del, NC_000015.9:g.79098482_79098497del, NC_000015.9:g.79098483_79098497del, NC_000015.9:g.79098484_79098497del, NC_000015.9:g.79098485_79098497del, NC_000015.9:g.79098486_79098497del, NC_000015.9:g.79098487_79098497del, NC_000015.9:g.79098488_79098497del, NC_000015.9:g.79098489_79098497del, NC_000015.9:g.79098490_79098497del, NC_000015.9:g.79098491_79098497del, NC_000015.9:g.79098492_79098497del, NC_000015.9:g.79098493_79098497del, NC_000015.9:g.79098494_79098497del, NC_000015.9:g.79098495_79098497del, NC_000015.9:g.79098496_79098497del, NC_000015.9:g.79098497del, NC_000015.9:g.79098497dup, NC_000015.9:g.79098496_79098497dup, NC_000015.9:g.79098495_79098497dup, NC_000015.9:g.79098494_79098497dup, NC_000015.9:g.79098493_79098497dup, NC_000015.9:g.79098491_79098497dup, NG_011492.1:g.10285_10304del, NG_011492.1:g.10286_10304del, NG_011492.1:g.10287_10304del, NG_011492.1:g.10288_10304del, NG_011492.1:g.10289_10304del, NG_011492.1:g.10290_10304del, NG_011492.1:g.10291_10304del, NG_011492.1:g.10292_10304del, NG_011492.1:g.10293_10304del, NG_011492.1:g.10294_10304del, NG_011492.1:g.10295_10304del, NG_011492.1:g.10296_10304del, NG_011492.1:g.10297_10304del, NG_011492.1:g.10298_10304del, NG_011492.1:g.10299_10304del, NG_011492.1:g.10300_10304del, NG_011492.1:g.10301_10304del, NG_011492.1:g.10302_10304del, NG_011492.1:g.10303_10304del, NG_011492.1:g.10304del, NG_011492.1:g.10304dup, NG_011492.1:g.10303_10304dup, NG_011492.1:g.10302_10304dup, NG_011492.1:g.10301_10304dup, NG_011492.1:g.10300_10304dup, NG_011492.1:g.10298_10304dup
2.
rs1491423873 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 15:78791291
(GRCh38)
15:79083633
(GRCh37)
- Canonical SPDI:
- NC_000015.10:78791290:AA:
- Gene:
- ADAMTS7 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.001327/173
(GnomAD)
-=0.004499/75
(TOMMO)
- HGVS:
3.
rs1491374967 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 15:78785563
(GRCh38)
15:79077906
(GRCh37)
- Canonical SPDI:
- NC_000015.10:78785563::C
- Gene:
- ADAMTS7 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000022/3
(GnomAD)
- HGVS:
4.
rs1491243675 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 15:78761746
(GRCh38)
15:79054089
(GRCh37)
- Canonical SPDI:
- NC_000015.10:78761746:T:TT
- Gene:
- ADAMTS7 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TT=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
7.
rs1491145070 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C,CAC,CACAC,CACACAC,CACACACAC,CACACACACAC,CACACACACACAC,CACACACACACACAC,CACACACACACACACAC
[Show Flanks]
- Chromosome:
- 15:78806128
(GRCh38)
15:79098471
(GRCh37)
- Canonical SPDI:
- NC_000015.10:78806128::C,NC_000015.10:78806128::CAC,NC_000015.10:78806128::CACAC,NC_000015.10:78806128::CACACAC,NC_000015.10:78806128::CACACACAC,NC_000015.10:78806128::CACACACACAC,NC_000015.10:78806128::CACACACACACAC,NC_000015.10:78806128::CACACACACACACAC,NC_000015.10:78806128::CACACACACACACACAC
- Gene:
- ADAMTS7 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000015.10:g.78806128_78806129insC, NC_000015.10:g.78806128_78806129insCAC, NC_000015.10:g.78806128_78806129insCACAC, NC_000015.10:g.78806128_78806129insCACACAC, NC_000015.10:g.78806128_78806129insCACACACAC, NC_000015.10:g.78806128_78806129insCACACACACAC, NC_000015.10:g.78806128_78806129insCACACACACACAC, NC_000015.10:g.78806128_78806129insCACACACACACACAC, NC_000015.10:g.78806128_78806129insCACACACACACACACAC, NC_000015.9:g.79098470_79098471insC, NC_000015.9:g.79098470_79098471insCAC, NC_000015.9:g.79098470_79098471insCACAC, NC_000015.9:g.79098470_79098471insCACACAC, NC_000015.9:g.79098470_79098471insCACACACAC, NC_000015.9:g.79098470_79098471insCACACACACAC, NC_000015.9:g.79098470_79098471insCACACACACACAC, NC_000015.9:g.79098470_79098471insCACACACACACACAC, NC_000015.9:g.79098470_79098471insCACACACACACACACAC, NG_011492.1:g.10303_10304insG, NG_011492.1:g.10303_10304insGTG, NG_011492.1:g.10303_10304insGTGTG, NG_011492.1:g.10303_10304insGTGTGTG, NG_011492.1:g.10303_10304insGTGTGTGTG, NG_011492.1:g.10303_10304insGTGTGTGTGTG, NG_011492.1:g.10303_10304insGTGTGTGTGTGTG, NG_011492.1:g.10303_10304insGTGTGTGTGTGTGTG, NG_011492.1:g.10303_10304insGTGTGTGTGTGTGTGTG
8.
rs1490975558 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:78786003
(GRCh38)
15:79078345
(GRCh37)
- Canonical SPDI:
- NC_000015.10:78786002:C:T
- Gene:
- ADAMTS7 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
9.
rs1490974963 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:78761526
(GRCh38)
15:79053868
(GRCh37)
- Canonical SPDI:
- NC_000015.10:78761525:C:T
- Gene:
- ADAMTS7 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000038/10
(TOPMED)
T=0.00463/1
(Vietnamese)
- HGVS:
10.
rs1490958632 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:78762063
(GRCh38)
15:79054405
(GRCh37)
- Canonical SPDI:
- NC_000015.10:78762062:G:A
- Gene:
- ADAMTS7 (Varview)
- Functional Consequence:
- missense_variant,intron_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
NC_000015.10:g.78762063G>A, NC_000015.9:g.79054405G>A, NG_011492.1:g.54369C>T, XM_011521166.3:c.3181C>T, XM_011521166.2:c.3181C>T, XM_011521166.1:c.3181C>T, XM_047432122.1:c.4927C>T, XM_047432123.1:c.4168C>T, XP_011519468.1:p.Pro1061Ser, XP_047288078.1:p.Pro1643Ser, XP_047288079.1:p.Pro1390Ser
11.
rs1490941163 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 15:78774202
(GRCh38)
15:79066544
(GRCh37)
- Canonical SPDI:
- NC_000015.10:78774201:C:A
- Gene:
- ADAMTS7 (Varview)
- Functional Consequence:
- missense_variant,intron_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
NC_000015.10:g.78774202C>A, NC_000015.9:g.79066544C>A, NG_011492.1:g.42230G>T, NM_014272.5:c.1975G>T, NM_014272.4:c.1975G>T, NM_014272.3:c.1975G>T, XM_047432122.1:c.1975G>T, XM_047432123.1:c.1216G>T, NP_055087.2:p.Ala659Ser, XP_047288078.1:p.Ala659Ser, XP_047288079.1:p.Ala406Ser
12.
rs1490909361 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:78794284
(GRCh38)
15:79086626
(GRCh37)
- Canonical SPDI:
- NC_000015.10:78794283:G:A
- Gene:
- ADAMTS7 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000156/1
(1000Genomes)
- HGVS:
13.
rs1490901734 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 15:78808701
(GRCh38)
15:79101043
(GRCh37)
- Canonical SPDI:
- NC_000015.10:78808700:G:C
- Gene:
- ADAMTS7 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000026/7
(TOPMED)
- HGVS:
14.
rs1490865567 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:78809941
(GRCh38)
15:79102283
(GRCh37)
- Canonical SPDI:
- NC_000015.10:78809940:C:T
- Gene:
- ADAMTS7 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
15.
rs1490698539 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 15:78787208
(GRCh38)
15:79079550
(GRCh37)
- Canonical SPDI:
- NC_000015.10:78787207:C:G
- Gene:
- ADAMTS7 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000019/5
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
16.
rs1490661974 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 15:78801874
(GRCh38)
15:79094216
(GRCh37)
- Canonical SPDI:
- NC_000015.10:78801873:A:C
- Gene:
- ADAMTS7 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000029/4
(GnomAD)
- HGVS:
17.
rs1490563153 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 15:78785665
(GRCh38)
15:79078007
(GRCh37)
- Canonical SPDI:
- NC_000015.10:78785664:A:T
- Gene:
- ADAMTS7 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
18.
rs1490562262 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,G
[Show Flanks]
- Chromosome:
- 15:78802343
(GRCh38)
15:79094685
(GRCh37)
- Canonical SPDI:
- NC_000015.10:78802342:T:A,NC_000015.10:78802342:T:G
- Gene:
- ADAMTS7 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
G=0.000035/1
(TOMMO)
A=0.000036/5
(GnomAD)
- HGVS:
19.
rs1490560982 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 15:78774582
(GRCh38)
15:79066924
(GRCh37)
- Canonical SPDI:
- NC_000015.10:78774581:A:C
- Gene:
- ADAMTS7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
20.
rs1490538763 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 15:78786715
(GRCh38)
15:79079057
(GRCh37)
- Canonical SPDI:
- NC_000015.10:78786714:T:C
- Gene:
- ADAMTS7 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS: