Links from Gene
Items: 1 to 20 of 5867
2.
rs1491447790 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ACACACATATAT,ATACACACATATAT
[Show Flanks]
- Chromosome:
- 6:89099457
(GRCh38)
6:89809177
(GRCh37)
- Canonical SPDI:
- NC_000006.12:89099457:ATATAT:ATATATACACACATATAT,NC_000006.12:89099457:ATATAT:ATATATATACACACATATAT
- Gene:
- PM20D2 (Varview), SRSF12 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
ATATATATACACAC=0.00042/7
(TOMMO)
ATATATATACACAC=0.00055/1
(Korea1K)
- HGVS:
3.
rs1491425713 has merged into rs75997148 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT,TTTTTT
[Show Flanks]
- Chromosome:
- 6:89111122
(GRCh38)
6:89820841
(GRCh37)
- Canonical SPDI:
- NC_000006.12:89111109:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:89111109:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:89111109:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:89111109:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:89111109:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:89111109:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
- Gene:
- PM20D2 (Varview), SRSF12 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.000015/4
(TOPMED)
T=0.000637/18
(TOMMO)
T=0.2/8
(GENOME_DK)
- HGVS:
NC_000006.12:g.89111122_89111125del, NC_000006.12:g.89111123_89111125del, NC_000006.12:g.89111124_89111125del, NC_000006.12:g.89111125del, NC_000006.12:g.89111125dup, NC_000006.12:g.89111124_89111125dup, NC_000006.11:g.89820841_89820844del, NC_000006.11:g.89820842_89820844del, NC_000006.11:g.89820843_89820844del, NC_000006.11:g.89820844del, NC_000006.11:g.89820844dup, NC_000006.11:g.89820843_89820844dup
4.
rs1491329104 has merged into rs1165109904 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATATAT>-,AT,ATAT,ATATATACACACATATATAT,ATATATACACATATATAT,ATATATATAT
[Show Flanks]
- Chromosome:
- 6:89099458
(GRCh38)
6:89809177
(GRCh37)
- Canonical SPDI:
- NC_000006.12:89099456:TATATAT:T,NC_000006.12:89099456:TATATAT:TAT,NC_000006.12:89099456:TATATAT:TATAT,NC_000006.12:89099456:TATATAT:TATATATACACACATATATAT,NC_000006.12:89099456:TATATAT:TATATATACACATATATAT,NC_000006.12:89099456:TATATAT:TATATATATAT
- Gene:
- PM20D2 (Varview), SRSF12 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000006.12:g.89099458_89099463del, NC_000006.12:g.89099458AT[1], NC_000006.12:g.89099458AT[2], NC_000006.12:g.89099457_89099463TA[4]CA[3]TA[3]T[1], NC_000006.12:g.89099457_89099463TA[4]CA[2]TA[3]T[1], NC_000006.12:g.89099458AT[5], NC_000006.11:g.89809177_89809182del, NC_000006.11:g.89809177AT[1], NC_000006.11:g.89809177AT[2], NC_000006.11:g.89809176_89809182TA[4]CA[3]TA[3]T[1], NC_000006.11:g.89809176_89809182TA[4]CA[2]TA[3]T[1], NC_000006.11:g.89809177AT[5]
5.
rs1491319606 has merged into rs760005395 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTT>-,TTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 6:89115638
(GRCh38)
6:89825357
(GRCh37)
- Canonical SPDI:
- NC_000006.12:89115631:TTTTTTTTTTTTTTTTTTTTTT:TTTTTT,NC_000006.12:89115631:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:89115631:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:89115631:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:89115631:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:89115631:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:89115631:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:89115631:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:89115631:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:89115631:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:89115631:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:89115631:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:89115631:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:89115631:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:89115631:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:89115631:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:89115631:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:89115631:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- PM20D2 (Varview), SRSF12 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
-=0.000023/6
(TOPMED)
TT=0.006667/4
(NorthernSweden)
-=0.05/2
(GENOME_DK)
- HGVS:
NC_000006.12:g.89115638_89115653del, NC_000006.12:g.89115643_89115653del, NC_000006.12:g.89115645_89115653del, NC_000006.12:g.89115647_89115653del, NC_000006.12:g.89115649_89115653del, NC_000006.12:g.89115651_89115653del, NC_000006.12:g.89115652_89115653del, NC_000006.12:g.89115653del, NC_000006.12:g.89115653dup, NC_000006.12:g.89115652_89115653dup, NC_000006.12:g.89115651_89115653dup, NC_000006.12:g.89115649_89115653dup, NC_000006.12:g.89115648_89115653dup, NC_000006.12:g.89115644_89115653dup, NC_000006.12:g.89115643_89115653dup, NC_000006.12:g.89115642_89115653dup, NC_000006.12:g.89115641_89115653dup, NC_000006.12:g.89115634_89115653dup, NC_000006.11:g.89825357_89825372del, NC_000006.11:g.89825362_89825372del, NC_000006.11:g.89825364_89825372del, NC_000006.11:g.89825366_89825372del, NC_000006.11:g.89825368_89825372del, NC_000006.11:g.89825370_89825372del, NC_000006.11:g.89825371_89825372del, NC_000006.11:g.89825372del, NC_000006.11:g.89825372dup, NC_000006.11:g.89825371_89825372dup, NC_000006.11:g.89825370_89825372dup, NC_000006.11:g.89825368_89825372dup, NC_000006.11:g.89825367_89825372dup, NC_000006.11:g.89825363_89825372dup, NC_000006.11:g.89825362_89825372dup, NC_000006.11:g.89825361_89825372dup, NC_000006.11:g.89825360_89825372dup, NC_000006.11:g.89825353_89825372dup
7.
rs1491267612 has merged into rs35086229 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 6:89100534
(GRCh38)
6:89810253
(GRCh37)
- Canonical SPDI:
- NC_000006.12:89100522:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:89100522:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:89100522:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:89100522:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:89100522:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:89100522:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:89100522:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:89100522:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:89100522:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:89100522:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
- Gene:
- PM20D2 (Varview), SRSF12 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
AA=0.225/9
(GENOME_DK)
AA=0.246/1232
(1000Genomes)
- HGVS:
NC_000006.12:g.89100534_89100536del, NC_000006.12:g.89100535_89100536del, NC_000006.12:g.89100536del, NC_000006.12:g.89100536dup, NC_000006.12:g.89100535_89100536dup, NC_000006.12:g.89100533_89100536dup, NC_000006.12:g.89100532_89100536dup, NC_000006.12:g.89100531_89100536dup, NC_000006.12:g.89100530_89100536dup, NC_000006.12:g.89100529_89100536dup, NC_000006.11:g.89810253_89810255del, NC_000006.11:g.89810254_89810255del, NC_000006.11:g.89810255del, NC_000006.11:g.89810255dup, NC_000006.11:g.89810254_89810255dup, NC_000006.11:g.89810252_89810255dup, NC_000006.11:g.89810251_89810255dup, NC_000006.11:g.89810250_89810255dup, NC_000006.11:g.89810249_89810255dup, NC_000006.11:g.89810248_89810255dup
8.
rs1491252954 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 6:89109435
(GRCh38)
6:89819154
(GRCh37)
- Canonical SPDI:
- NC_000006.12:89109432:GAGA:GA
- Gene:
- PM20D2 (Varview), SRSF12 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GAGA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
10.
rs1491068854 has merged into rs72183494 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA
[Show Flanks]
- Chromosome:
- 6:89114615
(GRCh38)
6:89824334
(GRCh37)
- Canonical SPDI:
- NC_000006.12:89114603:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:89114603:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:89114603:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:89114603:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:89114603:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
- Gene:
- PM20D2 (Varview), SRSF12 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
A=0.00181/2
(1000Genomes)
-=0.04833/29
(NorthernSweden)
-=0.075/3
(GENOME_DK)
- HGVS:
11.
rs1490828048 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 6:89104203
(GRCh38)
6:89813922
(GRCh37)
- Canonical SPDI:
- NC_000006.12:89104202:A:T
- Gene:
- PM20D2 (Varview), SRSF12 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.00253/30
(
ALFA)
T=0.00856/25
(KOREAN)
- HGVS:
12.
rs1490647574 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:89115999
(GRCh38)
6:89825718
(GRCh37)
- Canonical SPDI:
- NC_000006.12:89115998:C:T
- Gene:
- PM20D2 (Varview), SRSF12 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000015/4
(TOPMED)
- HGVS:
13.
rs1490298064 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 6:89102678
(GRCh38)
6:89812397
(GRCh37)
- Canonical SPDI:
- NC_000006.12:89102677:G:T
- Gene:
- PM20D2 (Varview), SRSF12 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
14.
rs1490012303 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 6:89103463
(GRCh38)
6:89813182
(GRCh37)
- Canonical SPDI:
- NC_000006.12:89103462:G:C
- Gene:
- PM20D2 (Varview), SRSF12 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
16.
rs1489829517 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:89116492
(GRCh38)
6:89826211
(GRCh37)
- Canonical SPDI:
- NC_000006.12:89116491:T:C
- Gene:
- PM20D2 (Varview), SRSF12 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,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:
17.
rs1489719861 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 6:89101148
(GRCh38)
6:89810867
(GRCh37)
- Canonical SPDI:
- NC_000006.12:89101147:G:C
- Gene:
- PM20D2 (Varview), SRSF12 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/1
(GnomAD)
C=0.000019/5
(TOPMED)
- HGVS:
18.
rs1489714268 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 6:89117723
(GRCh38)
6:89827442
(GRCh37)
- Canonical SPDI:
- NC_000006.12:89117722:C:A,NC_000006.12:89117722:C:G
- Gene:
- PM20D2 (Varview), SRSF12 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,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.
rs1489658440 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:89111068
(GRCh38)
6:89820787
(GRCh37)
- Canonical SPDI:
- NC_000006.12:89111067:T:C
- Gene:
- PM20D2 (Varview), SRSF12 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000014/2
(GnomAD)
C=0.000342/1
(KOREAN)
C=0.000546/1
(Korea1K)
- HGVS:
20.
rs1489614131 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:89100003
(GRCh38)
6:89809722
(GRCh37)
- Canonical SPDI:
- NC_000006.12:89100002:T:C
- Gene:
- PM20D2 (Varview), SRSF12 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000029/4
(GnomAD)
- HGVS: