Links from Gene
Items: 1 to 20 of 1878
1.
rs1490723237 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 8:116942534
(GRCh38)
8:117954773
(GRCh37)
- Canonical SPDI:
- NC_000008.11:116942533:T:C
- Gene:
- AARD (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
C=0.000014/3
(GnomAD_exomes)
- HGVS:
2.
rs1490394687 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:116940798
(GRCh38)
8:117953037
(GRCh37)
- Canonical SPDI:
- NC_000008.11:116940797:C:T
- Gene:
- AARD (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.0002/1
(
ALFA)
T=0.0002/1
(Estonian)
- HGVS:
3.
rs1490363428 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:116942991
(GRCh38)
8:117955230
(GRCh37)
- Canonical SPDI:
- NC_000008.11:116942990:C:T
- Gene:
- AARD (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000084/1
(
ALFA)
T=0.000024/3
(GnomAD)
T=0.000156/1
(1000Genomes)
- HGVS:
4.
rs1490287956 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 8:116937308
(GRCh38)
8:117949547
(GRCh37)
- Canonical SPDI:
- NC_000008.11:116937307:T:C
- Gene:
- AARD (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD)
- HGVS:
5.
rs1489315989 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:116943839
(GRCh38)
8:117956078
(GRCh37)
- Canonical SPDI:
- NC_000008.11:116943838:G:A
- Gene:
- AARD (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000066/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
A=0.000223/1
(Estonian)
- HGVS:
6.
rs1489220923 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 8:116938731
(GRCh38)
8:117950970
(GRCh37)
- Canonical SPDI:
- NC_000008.11:116938730:A:T
- Gene:
- AARD (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
7.
rs1488098563 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:116940668
(GRCh38)
8:117952907
(GRCh37)
- Canonical SPDI:
- NC_000008.11:116940667:A:G
- Gene:
- AARD (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
8.
rs1487977541 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:116937927
(GRCh38)
8:117950166
(GRCh37)
- Canonical SPDI:
- NC_000008.11:116937926:A:G
- Gene:
- AARD (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
9.
rs1487680401 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:116942776
(GRCh38)
8:117955015
(GRCh37)
- Canonical SPDI:
- NC_000008.11:116942775:G:A
- Gene:
- AARD (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000036/5
(GnomAD)
A=0.000049/13
(TOPMED)
- HGVS:
10.
rs1487465422 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 8:116941939
(GRCh38)
8:117954178
(GRCh37)
- Canonical SPDI:
- NC_000008.11:116941938:T:G
- Gene:
- AARD (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000011/1
(GnomAD)
- HGVS:
11.
rs1487416403 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 8:116941892
(GRCh38)
8:117954131
(GRCh37)
- Canonical SPDI:
- NC_000008.11:116941891:A:C
- Gene:
- AARD (Varview)
- Functional Consequence:
- 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:
12.
rs1487321480 has merged into rs371912568 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 8:116944203
(GRCh38)
8:117956442
(GRCh37)
- Canonical SPDI:
- NC_000008.11:116944201:GTG:G
- Gene:
- AARD (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
-=0.00005/7
(GnomAD)
-=0.000057/15
(TOPMED)
- HGVS:
13.
rs1487066821 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 8:116939002
(GRCh38)
8:117951241
(GRCh37)
- Canonical SPDI:
- NC_000008.11:116939001:G:C
- Gene:
- AARD (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.00003/8
(TOPMED)
- HGVS:
14.
rs1487034955 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 8:116941693
(GRCh38)
8:117953932
(GRCh37)
- Canonical SPDI:
- NC_000008.11:116941692:A:T
- Gene:
- AARD (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
15.
rs1486382892 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 8:116938517
(GRCh38)
8:117950756
(GRCh37)
- Canonical SPDI:
- NC_000008.11:116938516:C:G
- Gene:
- AARD (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000026/7
(TOPMED)
- HGVS:
16.
rs1486057182 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 8:116938788
(GRCh38)
8:117951027
(GRCh37)
- Canonical SPDI:
- NC_000008.11:116938787:T:G
- Gene:
- AARD (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
17.
rs1485134331 has merged into rs55952851 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,AAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 8:116943009
(GRCh38)
8:117955248
(GRCh37)
- Canonical SPDI:
- NC_000008.11:116942999:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000008.11:116942999:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:116942999:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:116942999:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:116942999:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:116942999:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:116942999:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:116942999:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:116942999:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:116942999:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:116942999:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:116942999:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:116942999:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:116942999:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:116942999:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- AARD (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
NC_000008.11:g.116943009_116943021del, NC_000008.11:g.116943014_116943021del, NC_000008.11:g.116943018_116943021del, NC_000008.11:g.116943019_116943021del, NC_000008.11:g.116943020_116943021del, NC_000008.11:g.116943021del, NC_000008.11:g.116943021dup, NC_000008.11:g.116943020_116943021dup, NC_000008.11:g.116943019_116943021dup, NC_000008.11:g.116943018_116943021dup, NC_000008.11:g.116943017_116943021dup, NC_000008.11:g.116943016_116943021dup, NC_000008.11:g.116943011_116943021dup, NC_000008.11:g.116943004_116943021dup, NC_000008.11:g.116943021_116943022insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.117955248_117955260del, NC_000008.10:g.117955253_117955260del, NC_000008.10:g.117955257_117955260del, NC_000008.10:g.117955258_117955260del, NC_000008.10:g.117955259_117955260del, NC_000008.10:g.117955260del, NC_000008.10:g.117955260dup, NC_000008.10:g.117955259_117955260dup, NC_000008.10:g.117955258_117955260dup, NC_000008.10:g.117955257_117955260dup, NC_000008.10:g.117955256_117955260dup, NC_000008.10:g.117955255_117955260dup, NC_000008.10:g.117955250_117955260dup, NC_000008.10:g.117955243_117955260dup, NC_000008.10:g.117955260_117955261insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_001025357.3:c.*308_*320del, NM_001025357.3:c.*313_*320del, NM_001025357.3:c.*317_*320del, NM_001025357.3:c.*318_*320del, NM_001025357.3:c.*319_*320del, NM_001025357.3:c.*320del, NM_001025357.3:c.*320dup, NM_001025357.3:c.*319_*320dup, NM_001025357.3:c.*318_*320dup, NM_001025357.3:c.*317_*320dup, NM_001025357.3:c.*316_*320dup, NM_001025357.3:c.*315_*320dup, NM_001025357.3:c.*310_*320dup, NM_001025357.3:c.*303_*320dup, NM_001025357.3:c.*320_*321insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_001025357.2:c.*308_*320del, NM_001025357.2:c.*313_*320del, NM_001025357.2:c.*317_*320del, NM_001025357.2:c.*318_*320del, NM_001025357.2:c.*319_*320del, NM_001025357.2:c.*320del, NM_001025357.2:c.*320dup, NM_001025357.2:c.*319_*320dup, NM_001025357.2:c.*318_*320dup, NM_001025357.2:c.*317_*320dup, NM_001025357.2:c.*316_*320dup, NM_001025357.2:c.*315_*320dup, NM_001025357.2:c.*310_*320dup, NM_001025357.2:c.*303_*320dup, NM_001025357.2:c.*320_*321insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
19.
rs1483912877 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:116936100
(GRCh38)
8:117948339
(GRCh37)
- Canonical SPDI:
- NC_000008.11:116936099:C:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
20.
rs1483841072 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 8:116943316
(GRCh38)
8:117955555
(GRCh37)
- Canonical SPDI:
- NC_000008.11:116943315:A:C,NC_000008.11:116943315:A:G
- Gene:
- AARD (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000015/4
(TOPMED)
C=0.000156/1
(1000Genomes)
- HGVS: