Links from Gene
Items: 1 to 20 of 5087
3.
rs1491306399 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CG
[Show Flanks]
- Chromosome:
- 9:65878299
(GRCh38)
9:42858878
(GRCh37)
- Canonical SPDI:
- NC_000009.12:65878299:G:GCG
- Gene:
- AQP7P3 (Varview), LOC101928195 (Varview), LOC112267859 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
GCG=0.00969/115
(
ALFA)
GC=0.00167/21
(TOMMO)
- HGVS:
4.
rs1491305946 has merged into rs750432297 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGTGTGTGTGTGTGTGTGTG>-,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG
[Show Flanks]
- Chromosome:
- 9:65878309
(GRCh38)
9:42858887
(GRCh37)
- Canonical SPDI:
- NC_000009.12:65878298:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTG,NC_000009.12:65878298:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTG,NC_000009.12:65878298:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000009.12:65878298:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000009.12:65878298:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000009.12:65878298:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
- Gene:
- AQP7P3 (Varview), LOC101928195 (Varview), LOC112267859 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGTGTGTGTGTGTG=0./0
(
ALFA)
TG=0.33333/2
(GENOME_DK)
- HGVS:
NC_000009.12:g.65878299TG[5], NC_000009.12:g.65878299TG[12], NC_000009.12:g.65878299TG[13], NC_000009.12:g.65878299TG[14], NC_000009.12:g.65878299TG[16], NC_000009.12:g.65878299TG[17], NC_000009.11:g.42858877TG[5], NC_000009.11:g.42858877TG[12], NC_000009.11:g.42858877TG[13], NC_000009.11:g.42858877TG[14], NC_000009.11:g.42858877TG[16], NC_000009.11:g.42858877TG[17]
5.
rs1491257616 has merged into rs1340224576 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT
[Show Flanks]
- Chromosome:
- 9:65879228
(GRCh38)
9:42859806
(GRCh37)
- Canonical SPDI:
- NC_000009.12:65879218:TTTTTTTTTTT:TTTTTTTTT,NC_000009.12:65879218:TTTTTTTTTTT:TTTTTTTTTT,NC_000009.12:65879218:TTTTTTTTTTT:TTTTTTTTTTTT
- Gene:
- AQP7P3 (Varview), LOC101928195 (Varview), LOC112267859 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
-=0.00981/173
(GnomAD)
T=0.01256/5
(NorthernSweden)
- HGVS:
10.
rs1490890642 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 9:65907840
(GRCh38)
9:42888418
(GRCh37)
- Canonical SPDI:
- NC_000009.12:65907839:C:A,NC_000009.12:65907839:C:G
- Gene:
- AQP7P3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000009/1
(GnomAD)
A=0.000559/1
(Korea1K)
- HGVS:
11.
rs1490828806 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 9:65909004
(GRCh38)
9:42889582
(GRCh37)
- Canonical SPDI:
- NC_000009.12:65909003:A:C,NC_000009.12:65909003:A:G
- Gene:
- AQP7P3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.00055/1
(Korea1K)
C=0.00069/2
(KOREAN)
C=0.00071/12
(TOMMO)
- HGVS:
12.
rs1490693439 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:65908924
(GRCh38)
9:42889502
(GRCh37)
- Canonical SPDI:
- NC_000009.12:65908923:C:T
- Gene:
- AQP7P3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000016/2
(GnomAD)
- HGVS:
13.
rs1490652745 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:65892528
(GRCh38)
9:42873106
(GRCh37)
- Canonical SPDI:
- NC_000009.12:65892527:G:A
- Gene:
- AQP7P3 (Varview), LOC112267859 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
15.
rs1490412033 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:65908849
(GRCh38)
9:42889427
(GRCh37)
- Canonical SPDI:
- NC_000009.12:65908848:A:G
- Gene:
- AQP7P3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.00001/1
(GnomAD)
- HGVS:
16.
rs1490409372 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:65895919
(GRCh38)
9:42876497
(GRCh37)
- Canonical SPDI:
- NC_000009.12:65895918:C:T
- Gene:
- AQP7P3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00004/2
(GnomAD)
T=0.00065/11
(TOMMO)
- HGVS: