Links from Gene
Items: 1 to 20 of 9583
1.
rs1491256671 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 2:239796614
(GRCh38)
2:240718308
(GRCh37)
- Canonical SPDI:
- NC_000002.12:239796612:ATA:A
- Gene:
- LOC150935 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.00051/6
(
ALFA)
-=0.00015/4
(TOMMO)
- HGVS:
3.
rs1491055754 has merged into rs56087916 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 2:239796626
(GRCh38)
2:240718320
(GRCh37)
- Canonical SPDI:
- NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LOC150935 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
-=0.3/12
(GENOME_DK)
- HGVS:
NC_000002.12:g.239796626_239796642del, NC_000002.12:g.239796627_239796642del, NC_000002.12:g.239796628_239796642del, NC_000002.12:g.239796629_239796642del, NC_000002.12:g.239796630_239796642del, NC_000002.12:g.239796631_239796642del, NC_000002.12:g.239796632_239796642del, NC_000002.12:g.239796633_239796642del, NC_000002.12:g.239796634_239796642del, NC_000002.12:g.239796635_239796642del, NC_000002.12:g.239796636_239796642del, NC_000002.12:g.239796637_239796642del, NC_000002.12:g.239796638_239796642del, NC_000002.12:g.239796639_239796642del, NC_000002.12:g.239796640_239796642del, NC_000002.12:g.239796641_239796642del, NC_000002.12:g.239796642del, NC_000002.12:g.239796642dup, NC_000002.12:g.239796641_239796642dup, NC_000002.12:g.239796640_239796642dup, NC_000002.12:g.239796639_239796642dup, NC_000002.12:g.239796638_239796642dup, NC_000002.12:g.239796637_239796642dup, NC_000002.12:g.239796636_239796642dup, NC_000002.12:g.239796635_239796642dup, NC_000002.12:g.239796634_239796642dup, NC_000002.12:g.239796633_239796642dup, NC_000002.12:g.239796632_239796642dup, NC_000002.12:g.239796631_239796642dup, NC_000002.11:g.240718320_240718336del, NC_000002.11:g.240718321_240718336del, NC_000002.11:g.240718322_240718336del, NC_000002.11:g.240718323_240718336del, NC_000002.11:g.240718324_240718336del, NC_000002.11:g.240718325_240718336del, NC_000002.11:g.240718326_240718336del, NC_000002.11:g.240718327_240718336del, NC_000002.11:g.240718328_240718336del, NC_000002.11:g.240718329_240718336del, NC_000002.11:g.240718330_240718336del, NC_000002.11:g.240718331_240718336del, NC_000002.11:g.240718332_240718336del, NC_000002.11:g.240718333_240718336del, NC_000002.11:g.240718334_240718336del, NC_000002.11:g.240718335_240718336del, NC_000002.11:g.240718336del, NC_000002.11:g.240718336dup, NC_000002.11:g.240718335_240718336dup, NC_000002.11:g.240718334_240718336dup, NC_000002.11:g.240718333_240718336dup, NC_000002.11:g.240718332_240718336dup, NC_000002.11:g.240718331_240718336dup, NC_000002.11:g.240718330_240718336dup, NC_000002.11:g.240718329_240718336dup, NC_000002.11:g.240718328_240718336dup, NC_000002.11:g.240718327_240718336dup, NC_000002.11:g.240718326_240718336dup, NC_000002.11:g.240718325_240718336dup, NW_011332689.1:g.99723_99739del, NW_011332689.1:g.99724_99739del, NW_011332689.1:g.99725_99739del, NW_011332689.1:g.99726_99739del, NW_011332689.1:g.99727_99739del, NW_011332689.1:g.99728_99739del, NW_011332689.1:g.99729_99739del, NW_011332689.1:g.99730_99739del, NW_011332689.1:g.99731_99739del, NW_011332689.1:g.99732_99739del, NW_011332689.1:g.99733_99739del, NW_011332689.1:g.99734_99739del, NW_011332689.1:g.99735_99739del, NW_011332689.1:g.99736_99739del, NW_011332689.1:g.99737_99739del, NW_011332689.1:g.99738_99739del, NW_011332689.1:g.99739del, NW_011332689.1:g.99739dup, NW_011332689.1:g.99738_99739dup, NW_011332689.1:g.99737_99739dup, NW_011332689.1:g.99736_99739dup, NW_011332689.1:g.99735_99739dup, NW_011332689.1:g.99734_99739dup, NW_011332689.1:g.99733_99739dup, NW_011332689.1:g.99732_99739dup, NW_011332689.1:g.99731_99739dup, NW_011332689.1:g.99730_99739dup, NW_011332689.1:g.99729_99739dup, NW_011332689.1:g.99728_99739dup
4.
rs1490986204 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:239788142
(GRCh38)
2:240709836
(GRCh37)
- Canonical SPDI:
- NC_000002.12:239788141:A:G
- Gene:
- LOC150935 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000029/4
(GnomAD)
G=0.000038/10
(TOPMED)
- HGVS:
5.
rs1490980329 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 2:239789186
(GRCh38)
2:240710880
(GRCh37)
- Canonical SPDI:
- NC_000002.12:239789185:C:G
- Gene:
- LOC150935 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
6.
rs1490865985 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 2:239773987
(GRCh38)
2:240695681
(GRCh37)
- Canonical SPDI:
- NC_000002.12:239773986:T:G
- Gene:
- LOC150935 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000021/3
(GnomAD)
G=0.000026/7
(TOPMED)
- HGVS:
7.
rs1490849647 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:239774983
(GRCh38)
2:240696677
(GRCh37)
- Canonical SPDI:
- NC_000002.12:239774982:C:T
- Gene:
- LOC150935 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
8.
rs1490844855 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:239797724
(GRCh38)
2:240719418
(GRCh37)
- Canonical SPDI:
- NC_000002.12:239797723:T:C
- Gene:
- LOC150935 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
9.
rs1490727597 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AC>-
[Show Flanks]
- Chromosome:
- 2:239781255
(GRCh38)
2:240702949
(GRCh37)
- Canonical SPDI:
- NC_000002.12:239781250:ACACAC:ACAC
- Gene:
- LOC150935 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
ACAC=0.000071/1
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
10.
rs1490678817 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:239795907
(GRCh38)
2:240717601
(GRCh37)
- Canonical SPDI:
- NC_000002.12:239795906:A:G
- Gene:
- LOC150935 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/1
(GnomAD)
- HGVS:
11.
rs1490626025 has merged into rs56087916 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 2:239796626
(GRCh38)
2:240718320
(GRCh37)
- Canonical SPDI:
- NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LOC150935 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
-=0.3/12
(GENOME_DK)
- HGVS:
NC_000002.12:g.239796626_239796642del, NC_000002.12:g.239796627_239796642del, NC_000002.12:g.239796628_239796642del, NC_000002.12:g.239796629_239796642del, NC_000002.12:g.239796630_239796642del, NC_000002.12:g.239796631_239796642del, NC_000002.12:g.239796632_239796642del, NC_000002.12:g.239796633_239796642del, NC_000002.12:g.239796634_239796642del, NC_000002.12:g.239796635_239796642del, NC_000002.12:g.239796636_239796642del, NC_000002.12:g.239796637_239796642del, NC_000002.12:g.239796638_239796642del, NC_000002.12:g.239796639_239796642del, NC_000002.12:g.239796640_239796642del, NC_000002.12:g.239796641_239796642del, NC_000002.12:g.239796642del, NC_000002.12:g.239796642dup, NC_000002.12:g.239796641_239796642dup, NC_000002.12:g.239796640_239796642dup, NC_000002.12:g.239796639_239796642dup, NC_000002.12:g.239796638_239796642dup, NC_000002.12:g.239796637_239796642dup, NC_000002.12:g.239796636_239796642dup, NC_000002.12:g.239796635_239796642dup, NC_000002.12:g.239796634_239796642dup, NC_000002.12:g.239796633_239796642dup, NC_000002.12:g.239796632_239796642dup, NC_000002.12:g.239796631_239796642dup, NC_000002.11:g.240718320_240718336del, NC_000002.11:g.240718321_240718336del, NC_000002.11:g.240718322_240718336del, NC_000002.11:g.240718323_240718336del, NC_000002.11:g.240718324_240718336del, NC_000002.11:g.240718325_240718336del, NC_000002.11:g.240718326_240718336del, NC_000002.11:g.240718327_240718336del, NC_000002.11:g.240718328_240718336del, NC_000002.11:g.240718329_240718336del, NC_000002.11:g.240718330_240718336del, NC_000002.11:g.240718331_240718336del, NC_000002.11:g.240718332_240718336del, NC_000002.11:g.240718333_240718336del, NC_000002.11:g.240718334_240718336del, NC_000002.11:g.240718335_240718336del, NC_000002.11:g.240718336del, NC_000002.11:g.240718336dup, NC_000002.11:g.240718335_240718336dup, NC_000002.11:g.240718334_240718336dup, NC_000002.11:g.240718333_240718336dup, NC_000002.11:g.240718332_240718336dup, NC_000002.11:g.240718331_240718336dup, NC_000002.11:g.240718330_240718336dup, NC_000002.11:g.240718329_240718336dup, NC_000002.11:g.240718328_240718336dup, NC_000002.11:g.240718327_240718336dup, NC_000002.11:g.240718326_240718336dup, NC_000002.11:g.240718325_240718336dup, NW_011332689.1:g.99723_99739del, NW_011332689.1:g.99724_99739del, NW_011332689.1:g.99725_99739del, NW_011332689.1:g.99726_99739del, NW_011332689.1:g.99727_99739del, NW_011332689.1:g.99728_99739del, NW_011332689.1:g.99729_99739del, NW_011332689.1:g.99730_99739del, NW_011332689.1:g.99731_99739del, NW_011332689.1:g.99732_99739del, NW_011332689.1:g.99733_99739del, NW_011332689.1:g.99734_99739del, NW_011332689.1:g.99735_99739del, NW_011332689.1:g.99736_99739del, NW_011332689.1:g.99737_99739del, NW_011332689.1:g.99738_99739del, NW_011332689.1:g.99739del, NW_011332689.1:g.99739dup, NW_011332689.1:g.99738_99739dup, NW_011332689.1:g.99737_99739dup, NW_011332689.1:g.99736_99739dup, NW_011332689.1:g.99735_99739dup, NW_011332689.1:g.99734_99739dup, NW_011332689.1:g.99733_99739dup, NW_011332689.1:g.99732_99739dup, NW_011332689.1:g.99731_99739dup, NW_011332689.1:g.99730_99739dup, NW_011332689.1:g.99729_99739dup, NW_011332689.1:g.99728_99739dup
12.
rs1490576804 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:239768651
(GRCh38)
2:240690345
(GRCh37)
- Canonical SPDI:
- NC_000002.12:239768650:C:T
- Gene:
- LOC150935 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
13.
rs1490563182 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:239781679
(GRCh38)
2:240703373
(GRCh37)
- Canonical SPDI:
- NC_000002.12:239781678:C:T
- Gene:
- LOC150935 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000023/6
(TOPMED)
T=0.000029/4
(GnomAD)
- HGVS:
14.
rs1490549951 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:239795439
(GRCh38)
2:240717133
(GRCh37)
- Canonical SPDI:
- NC_000002.12:239795438:T:C
- Gene:
- LOC150935 (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:
16.
rs1490293497 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 2:239785664
(GRCh38)
2:240707358
(GRCh37)
- Canonical SPDI:
- NC_000002.12:239785663:A:C
- Gene:
- LOC150935 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS:
17.
rs1490286748 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:239768936
(GRCh38)
2:240690630
(GRCh37)
- Canonical SPDI:
- NC_000002.12:239768935:T:C
- Gene:
- LOC150935 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
18.
rs1490255420 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:239790506
(GRCh38)
2:240712200
(GRCh37)
- Canonical SPDI:
- NC_000002.12:239790505:T:C
- Gene:
- LOC150935 (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:
19.
rs1490156884 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:239800775
(GRCh38)
2:240722469
(GRCh37)
- Canonical SPDI:
- NC_000002.12:239800774:G:A
- Gene:
- LOC150935 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000023/6
(TOPMED)
- HGVS:
20.
rs1490072680 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:239768233
(GRCh38)
2:240689927
(GRCh37)
- Canonical SPDI:
- NC_000002.12:239768232:G:A
- Gene:
- LOC150935 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000029/4
(GnomAD)
- HGVS: