Links from Gene
Items: 1 to 20 of 1000
1.
rs1491578939 has merged into rs11425497 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 15:80985650
(GRCh38)
15:81277991
(GRCh37)
- Canonical SPDI:
- NC_000015.10:80985639:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000015.10:80985639:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000015.10:80985639:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:80985639:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:80985639:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:80985639:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:80985639:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:80985639:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:80985639:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:80985639:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:80985639:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:80985639:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000015.10:80985639:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:80985639:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:80985639:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:80985639:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:80985639:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:80985639:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:80985639:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:80985639:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:80985639:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:80985639:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:80985639:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:80985639:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:80985639:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:80985639:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:80985639:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:80985639:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:80985639:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:80985639:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:80985639:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:80985639:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:80985639:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:80985639:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- MESD (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTT=0./0
(
ALFA)
-=0.225/9
(GENOME_DK)
- HGVS:
NC_000015.10:g.80985650_80985664del, NC_000015.10:g.80985651_80985664del, NC_000015.10:g.80985652_80985664del, NC_000015.10:g.80985653_80985664del, NC_000015.10:g.80985654_80985664del, NC_000015.10:g.80985655_80985664del, NC_000015.10:g.80985656_80985664del, NC_000015.10:g.80985657_80985664del, NC_000015.10:g.80985658_80985664del, NC_000015.10:g.80985659_80985664del, NC_000015.10:g.80985660_80985664del, NC_000015.10:g.80985661_80985664del, NC_000015.10:g.80985662_80985664del, NC_000015.10:g.80985663_80985664del, NC_000015.10:g.80985664del, NC_000015.10:g.80985664dup, NC_000015.10:g.80985663_80985664dup, NC_000015.10:g.80985662_80985664dup, NC_000015.10:g.80985661_80985664dup, NC_000015.10:g.80985660_80985664dup, NC_000015.10:g.80985659_80985664dup, NC_000015.10:g.80985658_80985664dup, NC_000015.10:g.80985657_80985664dup, NC_000015.10:g.80985656_80985664dup, NC_000015.10:g.80985655_80985664dup, NC_000015.10:g.80985654_80985664dup, NC_000015.10:g.80985653_80985664dup, NC_000015.10:g.80985652_80985664dup, NC_000015.10:g.80985651_80985664dup, NC_000015.10:g.80985650_80985664dup, NC_000015.10:g.80985649_80985664dup, NC_000015.10:g.80985648_80985664dup, NC_000015.10:g.80985647_80985664dup, NC_000015.10:g.80985664_80985665insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.81277991_81278005del, NC_000015.9:g.81277992_81278005del, NC_000015.9:g.81277993_81278005del, NC_000015.9:g.81277994_81278005del, NC_000015.9:g.81277995_81278005del, NC_000015.9:g.81277996_81278005del, NC_000015.9:g.81277997_81278005del, NC_000015.9:g.81277998_81278005del, NC_000015.9:g.81277999_81278005del, NC_000015.9:g.81278000_81278005del, NC_000015.9:g.81278001_81278005del, NC_000015.9:g.81278002_81278005del, NC_000015.9:g.81278003_81278005del, NC_000015.9:g.81278004_81278005del, NC_000015.9:g.81278005del, NC_000015.9:g.81278005dup, NC_000015.9:g.81278004_81278005dup, NC_000015.9:g.81278003_81278005dup, NC_000015.9:g.81278002_81278005dup, NC_000015.9:g.81278001_81278005dup, NC_000015.9:g.81278000_81278005dup, NC_000015.9:g.81277999_81278005dup, NC_000015.9:g.81277998_81278005dup, NC_000015.9:g.81277997_81278005dup, NC_000015.9:g.81277996_81278005dup, NC_000015.9:g.81277995_81278005dup, NC_000015.9:g.81277994_81278005dup, NC_000015.9:g.81277993_81278005dup, NC_000015.9:g.81277992_81278005dup, NC_000015.9:g.81277991_81278005dup, NC_000015.9:g.81277990_81278005dup, NC_000015.9:g.81277989_81278005dup, NC_000015.9:g.81277988_81278005dup, NC_000015.9:g.81278005_81278006insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
2.
rs1491558766 has merged into rs1010133981 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA
[Show Flanks]
- Chromosome:
- 15:80975217
(GRCh38)
15:81267558
(GRCh37)
- Canonical SPDI:
- NC_000015.10:80975208:AAAAAAAAAAAA:AAAAAAAA,NC_000015.10:80975208:AAAAAAAAAAAA:AAAAAAAAA,NC_000015.10:80975208:AAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:80975208:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:80975208:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:80975208:AAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:80975208:AAAAAAAAAAAA:AAAAAAAAAAAAAAA
- Gene:
- MESD (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0./0
(
ALFA)
AA=0.000004/1
(TOPMED)
A=0.001405/9
(1000Genomes)
A=0.003958/66
(TOMMO)
- HGVS:
NC_000015.10:g.80975217_80975220del, NC_000015.10:g.80975218_80975220del, NC_000015.10:g.80975219_80975220del, NC_000015.10:g.80975220del, NC_000015.10:g.80975220dup, NC_000015.10:g.80975219_80975220dup, NC_000015.10:g.80975218_80975220dup, NC_000015.9:g.81267558_81267561del, NC_000015.9:g.81267559_81267561del, NC_000015.9:g.81267560_81267561del, NC_000015.9:g.81267561del, NC_000015.9:g.81267561dup, NC_000015.9:g.81267560_81267561dup, NC_000015.9:g.81267559_81267561dup
4.
rs1491498885 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ACAGACAGGGCTTGGT
[Show Flanks]
- Chromosome:
- 15:80977657
(GRCh38)
15:81269999
(GRCh37)
- Canonical SPDI:
- NC_000015.10:80977657:ACAGACAGGGCTTGGT:ACAGACAGGGCTTGGTACAGACAGGGCTTGGT
- Gene:
- MESD (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
ACAGACAGGGCTTGGTACAGACAGGGCTTGGT=0./0
(
ALFA)
ACAGACAGGGCTTGGT=0.000036/5
(GnomAD)
- HGVS:
8.
rs1491337000 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 15:80977659
(GRCh38)
15:81270000
(GRCh37)
- Canonical SPDI:
- NC_000015.10:80977656:CACA:CA
- Gene:
- MESD (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACA=0./0
(
ALFA)
-=0.000036/5
(GnomAD)
-=0.000038/10
(TOPMED)
- HGVS:
9.
rs1491329974 has merged into rs1027637620 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAA
[Show Flanks]
- Chromosome:
- 15:80975233
(GRCh38)
15:81267574
(GRCh37)
- Canonical SPDI:
- NC_000015.10:80975221:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:80975221:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:80975221:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:80975221:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA
- Gene:
- MESD (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
A=0.01136/190
(TOMMO)
- HGVS:
10.
rs1491282219 has merged into rs111416993 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CC>-,C,CCC,CCCC,CCCCC,CCCCCC,CCCCCCC
[Show Flanks]
- Chromosome:
- 15:80974069
(GRCh38)
15:81266410
(GRCh37)
- Canonical SPDI:
- NC_000015.10:80974061:CCCCCCCCC:CCCCCCC,NC_000015.10:80974061:CCCCCCCCC:CCCCCCCC,NC_000015.10:80974061:CCCCCCCCC:CCCCCCCCCC,NC_000015.10:80974061:CCCCCCCCC:CCCCCCCCCCC,NC_000015.10:80974061:CCCCCCCCC:CCCCCCCCCCCC,NC_000015.10:80974061:CCCCCCCCC:CCCCCCCCCCCCC,NC_000015.10:80974061:CCCCCCCCC:CCCCCCCCCCCCCC
- Gene:
- MESD (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCCCCCCC=0./0
(
ALFA)
-=0.000446/2
(Estonian)
-=0.024395/6457
(TOPMED)
-=0.03095/155
(1000Genomes)
- HGVS:
NC_000015.10:g.80974069_80974070del, NC_000015.10:g.80974070del, NC_000015.10:g.80974070dup, NC_000015.10:g.80974069_80974070dup, NC_000015.10:g.80974068_80974070dup, NC_000015.10:g.80974067_80974070dup, NC_000015.10:g.80974066_80974070dup, NC_000015.9:g.81266410_81266411del, NC_000015.9:g.81266411del, NC_000015.9:g.81266411dup, NC_000015.9:g.81266410_81266411dup, NC_000015.9:g.81266409_81266411dup, NC_000015.9:g.81266408_81266411dup, NC_000015.9:g.81266407_81266411dup
11.
rs1491206423 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 15:80983919
(GRCh38)
15:81276260
(GRCh37)
- Canonical SPDI:
- NC_000015.10:80983918:TG:
- Gene:
- MESD (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000032/4
(GnomAD)
- HGVS:
12.
rs1491110626 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GAAA
[Show Flanks]
- Chromosome:
- 15:80981436
(GRCh38)
15:81273778
(GRCh37)
- Canonical SPDI:
- NC_000015.10:80981436:A:AGAAA
- Gene:
- MESD (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AGAAA=0./0
(
ALFA)
AGAA=0.00002/1
(GnomAD)
- HGVS:
13.
rs1490919035 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 15:80955389
(GRCh38)
15:81247730
(GRCh37)
- Canonical SPDI:
- NC_000015.10:80955388:C:G
- Gene:
- MESD (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
15.
rs1490647258 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 15:80982710
(GRCh38)
15:81275051
(GRCh37)
- Canonical SPDI:
- NC_000015.10:80982709:AA:
- Gene:
- MESD (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000014/2
(GnomAD)
-=0.000019/5
(TOPMED)
- HGVS:
16.
rs1490442056 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 15:80961476
(GRCh38)
15:81253817
(GRCh37)
- Canonical SPDI:
- NC_000015.10:80961475:G:A,NC_000015.10:80961475:G:C
- Gene:
- MESD (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
17.
rs1490418983 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:80976741
(GRCh38)
15:81269082
(GRCh37)
- Canonical SPDI:
- NC_000015.10:80976740:G:A
- Gene:
- MESD (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
18.
rs1490390960 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 15:80990404
(GRCh38)
15:81282745
(GRCh37)
- Canonical SPDI:
- NC_000015.10:80990403:T:G
- Gene:
- MESD (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000015/2
(GnomAD)
- HGVS:
19.
rs1490390131 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 15:80962643
(GRCh38)
15:81254984
(GRCh37)
- Canonical SPDI:
- NC_000015.10:80962642:A:G
- Gene:
- MESD (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
20.
rs1490349075 has merged into rs1051606240 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAGAAA>-,AAAGAAAAAAGAAA
[Show Flanks]
- Chromosome:
- 15:80984433
(GRCh38)
15:81276774
(GRCh37)
- Canonical SPDI:
- NC_000015.10:80984416:AAAAAGAAAAAAGAAAAAAGAAA:AAAAAGAAAAAAGAAA,NC_000015.10:80984416:AAAAAGAAAAAAGAAAAAAGAAA:AAAAAGAAAAAAGAAAAAAGAAAAAAGAAA
- Gene:
- MESD (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAGAAAAAAGAAAAAAGAAAAAAGAAA=0./0
(
ALFA)
-=0.00007/1
(TOMMO)
-=0.00055/1
(Korea1K)
- HGVS: