Links from Gene
Items: 1 to 20 of 1423
1.
rs1490938723 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:99979197
(GRCh38)
7:99576820
(GRCh37)
- Canonical SPDI:
- NC_000007.14:99979196:A:G
- Gene:
- AZGP1P1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
2.
rs1490254455 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:99984691
(GRCh38)
7:99582314
(GRCh37)
- Canonical SPDI:
- NC_000007.14:99984690:A:G
- Gene:
- AZGP1P1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
3.
rs1490124825 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:99978853
(GRCh38)
7:99576476
(GRCh37)
- Canonical SPDI:
- NC_000007.14:99978852:A:G
- Gene:
- AZGP1P1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
4.
rs1489144521 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 7:99981073
(GRCh38)
7:99578696
(GRCh37)
- Canonical SPDI:
- NC_000007.14:99981072:CT:
- Gene:
- AZGP1P1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
5.
rs1488971813 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:99979034
(GRCh38)
7:99576657
(GRCh37)
- Canonical SPDI:
- NC_000007.14:99979033:C:T
- Gene:
- AZGP1P1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000026/7
(TOPMED)
T=0.000043/6
(GnomAD)
- HGVS:
6.
rs1488522071 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:99979690
(GRCh38)
7:99577313
(GRCh37)
- Canonical SPDI:
- NC_000007.14:99979689:G:A
- Gene:
- AZGP1P1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
7.
rs1488489444 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:99981344
(GRCh38)
7:99578967
(GRCh37)
- Canonical SPDI:
- NC_000007.14:99981343:C:T
- Gene:
- AZGP1P1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
T=0.000342/1
(KOREAN)
- HGVS:
9.
rs1487328292 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:99984067
(GRCh38)
7:99581690
(GRCh37)
- Canonical SPDI:
- NC_000007.14:99984066:G:A
- Gene:
- AZGP1P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
10.
rs1486158777 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:99983110
(GRCh38)
7:99580733
(GRCh37)
- Canonical SPDI:
- NC_000007.14:99983109:T:C
- Gene:
- AZGP1P1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
11.
rs1486147237 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:99983993
(GRCh38)
7:99581616
(GRCh37)
- Canonical SPDI:
- NC_000007.14:99983992:T:C
- Gene:
- AZGP1P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
12.
rs1485842337 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:99982244
(GRCh38)
7:99579867
(GRCh37)
- Canonical SPDI:
- NC_000007.14:99982243:C:T
- Gene:
- AZGP1P1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000224/1
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
13.
rs1485708343 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:99980669
(GRCh38)
7:99578292
(GRCh37)
- Canonical SPDI:
- NC_000007.14:99980668:G:A
- Gene:
- AZGP1P1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000019/5
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
14.
rs1485546526 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 7:99980768
(GRCh38)
7:99578391
(GRCh37)
- Canonical SPDI:
- NC_000007.14:99980767:A:C
- Gene:
- AZGP1P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000008/2
(GnomAD_exomes)
C=0.000014/2
(GnomAD)
- HGVS:
15.
rs1485542009 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 7:99982031
(GRCh38)
7:99579654
(GRCh37)
- Canonical SPDI:
- NC_000007.14:99982030:A:T
- Gene:
- AZGP1P1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
17.
rs1484630972 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 7:99982145
(GRCh38)
7:99579768
(GRCh37)
- Canonical SPDI:
- NC_000007.14:99982144:G:C
- Gene:
- AZGP1P1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
C=0.000035/1
(TOMMO)
- HGVS:
18.
rs1484350555 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:99984086
(GRCh38)
7:99581709
(GRCh37)
- Canonical SPDI:
- NC_000007.14:99984085:C:T
- Gene:
- AZGP1P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
19.
rs1483145006 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 7:99979964
(GRCh38)
7:99577587
(GRCh37)
- Canonical SPDI:
- NC_000007.14:99979963:C:G
- Gene:
- AZGP1P1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
20.
rs1482743344 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 7:99979430
(GRCh38)
7:99577053
(GRCh37)
- Canonical SPDI:
- NC_000007.14:99979429:T:A,NC_000007.14:99979429:T:C
- Gene:
- AZGP1P1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000029/4
(GnomAD)
C=0.00003/8
(TOPMED)
- HGVS: