Links from Gene
Items: 1 to 20 of 18996
1.
rs1491270972 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CA
[Show Flanks]
- Chromosome:
- 8:103223632
(GRCh38)
8:104235861
(GRCh37)
- Canonical SPDI:
- NC_000008.11:103223632:A:ACA
- Gene:
- BAALC (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
ACA=0./0
(
ALFA)
AC=0.000004/1
(TOPMED)
- HGVS:
2.
rs1491259681 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GT
[Show Flanks]
- Chromosome:
- 8:103177194
(GRCh38)
8:104189423
(GRCh37)
- Canonical SPDI:
- NC_000008.11:103177194:T:TGT
- Gene:
- BAALC (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TGT=0./0
(
ALFA)
TG=0.00003/1
(GnomAD)
- HGVS:
3.
rs1491222144 has merged into rs869075109 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 8:103150353
(GRCh38)
8:104162581
(GRCh37)
- Canonical SPDI:
- NC_000008.11:103150351:TCT:T
- Gene:
- BAALC (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.247176/2932
(
ALFA)
-=0.21/126
(NorthernSweden)
-=0.272745/37809
(GnomAD)
-=0.379397/6359
(TOMMO)
-=0.382642/701
(Korea1K)
-=0.386871/1491
(ALSPAC)
-=0.407767/1512
(TWINSUK)
-=0.471698/100
(Vietnamese)
- HGVS:
4.
rs1491197315 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 8:103178877
(GRCh38)
8:104191105
(GRCh37)
- Canonical SPDI:
- NC_000008.11:103178876:AG:
- Gene:
- BAALC (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.011044/131
(
ALFA)
-=0.001486/25
(TOMMO)
-=0.012428/1722
(GnomAD)
-=0.019051/122
(1000Genomes)
- HGVS:
5.
rs1491085398 has merged into rs753878417 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,TTTT
[Show Flanks]
- Chromosome:
- 8:103229749
(GRCh38)
8:104241977
(GRCh37)
- Canonical SPDI:
- NC_000008.11:103229747:TTT:T,NC_000008.11:103229747:TTT:TTTTT
- Gene:
- BAALC (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTT=0./0
(
ALFA)
-=0.00027/1
(TWINSUK)
-=0.00052/2
(ALSPAC)
- HGVS:
NC_000008.11:g.103229749_103229750del, NC_000008.11:g.103229749_103229750dup, NC_000008.10:g.104241977_104241978del, NC_000008.10:g.104241977_104241978dup, NM_024812.3:c.*1650_*1651del, NM_024812.3:c.*1650_*1651dup, NM_024812.2:c.*1650_*1651del, NM_024812.2:c.*1650_*1651dup, NM_001024372.2:c.*1756_*1757del, NM_001024372.2:c.*1756_*1757dup, NM_001024372.1:c.*1756_*1757del, NM_001024372.1:c.*1756_*1757dup, NM_001364874.1:c.*1650_*1651del, NM_001364874.1:c.*1650_*1651dup
6.
rs1491061189 has merged into rs34211860 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAA
[Show Flanks]
- Chromosome:
- 8:103178874
(GRCh38)
8:104191102
(GRCh37)
- Canonical SPDI:
- NC_000008.11:103178862:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:103178862:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:103178862:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:103178862:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:103178862:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:103178862:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
- Gene:
- BAALC (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
A=0.225/9
(GENOME_DK)
A=0.2989/159
(NorthernSweden)
- HGVS:
NC_000008.11:g.103178874_103178877del, NC_000008.11:g.103178876_103178877del, NC_000008.11:g.103178877del, NC_000008.11:g.103178877dup, NC_000008.11:g.103178876_103178877dup, NC_000008.11:g.103178875_103178877dup, NC_000008.10:g.104191102_104191105del, NC_000008.10:g.104191104_104191105del, NC_000008.10:g.104191105del, NC_000008.10:g.104191105dup, NC_000008.10:g.104191104_104191105dup, NC_000008.10:g.104191103_104191105dup
7.
rs1491047553 has merged into rs36037103 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTT>-,TTT,TTTT,TTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 8:103172401
(GRCh38)
8:104184629
(GRCh37)
- Canonical SPDI:
- NC_000008.11:103172391:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000008.11:103172391:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:103172391:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:103172391:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:103172391:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:103172391:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:103172391:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:103172391:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:103172391:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:103172391:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:103172391:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:103172391:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:103172391:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:103172391:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:103172391:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:103172391:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:103172391:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:103172391:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- BAALC (Varview), BAALC-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.012456/7
(NorthernSweden)
-=0.160612/619
(ALSPAC)
-=0.185275/687
(TWINSUK)
-=0.2/8
(GENOME_DK)
- HGVS:
NC_000008.11:g.103172401_103172414del, NC_000008.11:g.103172404_103172414del, NC_000008.11:g.103172405_103172414del, NC_000008.11:g.103172408_103172414del, NC_000008.11:g.103172412_103172414del, NC_000008.11:g.103172413_103172414del, NC_000008.11:g.103172414del, NC_000008.11:g.103172414dup, NC_000008.11:g.103172413_103172414dup, NC_000008.11:g.103172412_103172414dup, NC_000008.11:g.103172411_103172414dup, NC_000008.11:g.103172410_103172414dup, NC_000008.11:g.103172409_103172414dup, NC_000008.11:g.103172408_103172414dup, NC_000008.11:g.103172407_103172414dup, NC_000008.11:g.103172403_103172414dup, NC_000008.11:g.103172402_103172414dup, NC_000008.11:g.103172414_103172415insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.104184629_104184642del, NC_000008.10:g.104184632_104184642del, NC_000008.10:g.104184633_104184642del, NC_000008.10:g.104184636_104184642del, NC_000008.10:g.104184640_104184642del, NC_000008.10:g.104184641_104184642del, NC_000008.10:g.104184642del, NC_000008.10:g.104184642dup, NC_000008.10:g.104184641_104184642dup, NC_000008.10:g.104184640_104184642dup, NC_000008.10:g.104184639_104184642dup, NC_000008.10:g.104184638_104184642dup, NC_000008.10:g.104184637_104184642dup, NC_000008.10:g.104184636_104184642dup, NC_000008.10:g.104184635_104184642dup, NC_000008.10:g.104184631_104184642dup, NC_000008.10:g.104184630_104184642dup, NC_000008.10:g.104184642_104184643insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
8.
rs1491025631 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-,AAA
[Show Flanks]
- Chromosome:
- 8:103154940
(GRCh38)
8:104167168
(GRCh37)
- Canonical SPDI:
- NC_000008.11:103154939:AA:A,NC_000008.11:103154939:AA:AAAA
- Gene:
- BAALC (Varview), MIR3151 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAA=0./0
(
ALFA)
-=0.00006/1
(TOMMO)
- HGVS:
9.
rs1490930267 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 8:103154034
(GRCh38)
8:104166262
(GRCh37)
- Canonical SPDI:
- NC_000008.11:103154033:C:G
- Gene:
- BAALC (Varview), MIR3151 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
10.
rs1490922155 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 8:103159789
(GRCh38)
8:104172017
(GRCh37)
- Canonical SPDI:
- NC_000008.11:103159788:T:C
- Gene:
- BAALC (Varview), BAALC-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000034/9
(TOPMED)
C=0.000142/2
(TOMMO)
C=0.000342/1
(KOREAN)
- HGVS:
11.
rs1490893360 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 8:103144755
(GRCh38)
8:104156983
(GRCh37)
- Canonical SPDI:
- NC_000008.11:103144754:T:C
- Gene:
- BAALC (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.
rs1490859541 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:103219323
(GRCh38)
8:104231551
(GRCh37)
- Canonical SPDI:
- NC_000008.11:103219322:C:T
- Gene:
- BAALC (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
13.
rs1490837734 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:103176552
(GRCh38)
8:104188780
(GRCh37)
- Canonical SPDI:
- NC_000008.11:103176551:A:G
- Gene:
- BAALC (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
14.
rs1490716515 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 8:103170941
(GRCh38)
8:104183169
(GRCh37)
- Canonical SPDI:
- NC_000008.11:103170940:TT:T
- Gene:
- BAALC (Varview), BAALC-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0.000224/1
(
ALFA)
-=0.000014/2
(GnomAD)
-=0.000223/1
(Estonian)
- HGVS:
15.
rs1490678920 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TCT>-
[Show Flanks]
- Chromosome:
- 8:103177494
(GRCh38)
8:104189722
(GRCh37)
- Canonical SPDI:
- NC_000008.11:103177485:CTTCTTCTTCT:CTTCTTCT
- Gene:
- BAALC (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTTCTTCT=0./0
(
ALFA)
-=0.000014/2
(GnomAD)
-=0.000015/4
(TOPMED)
- HGVS:
16.
rs1490639929 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AATAA
[Show Flanks]
- Chromosome:
- 8:103174274
(GRCh38)
8:104186503
(GRCh37)
- Canonical SPDI:
- NC_000008.11:103174274:AA:AAAATAA
- Gene:
- BAALC (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AAAATAA=0.000084/1
(
ALFA)
AAAAT=0.000021/3
(GnomAD)
- HGVS:
17.
rs1490567650 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:103169862
(GRCh38)
8:104182090
(GRCh37)
- Canonical SPDI:
- NC_000008.11:103169861:G:A
- Gene:
- BAALC (Varview), BAALC-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
18.
rs1490552589 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:103168847
(GRCh38)
8:104181075
(GRCh37)
- Canonical SPDI:
- NC_000008.11:103168846:A:G
- Gene:
- BAALC (Varview), BAALC-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000015/4
(TOPMED)
- HGVS:
19.
rs1490519874 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:103153005
(GRCh38)
8:104165233
(GRCh37)
- Canonical SPDI:
- NC_000008.11:103153004:A:G
- Gene:
- BAALC (Varview), MIR3151 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
20.
rs1490500119 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TCTT>-
[Show Flanks]
- Chromosome:
- 8:103202121
(GRCh38)
8:104214349
(GRCh37)
- Canonical SPDI:
- NC_000008.11:103202118:TTTCTT:TT
- Gene:
- BAALC (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0.000071/1
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000038/10
(TOPMED)
-=0.008188/15
(Korea1K)
-=0.008882/149
(TOMMO)
- HGVS: