Links from Gene
Items: 1 to 20 of 11972
1.
rs1491545197 has merged into rs66751016 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTT>-,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 13:30891539
(GRCh38)
13:31465676
(GRCh37)
- Canonical SPDI:
- NC_000013.11:30891530:TTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000013.11:30891530:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000013.11:30891530:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000013.11:30891530:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:30891530:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:30891530:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:30891530:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:30891530:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000013.11:30891530:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000013.11:30891530:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000013.11:30891530:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:30891530:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- TEX26-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
T=0.25/2
(KOREAN)
-=0.35/14
(GENOME_DK)
- HGVS:
NC_000013.11:g.30891539_30891548del, NC_000013.11:g.30891542_30891548del, NC_000013.11:g.30891544_30891548del, NC_000013.11:g.30891545_30891548del, NC_000013.11:g.30891546_30891548del, NC_000013.11:g.30891547_30891548del, NC_000013.11:g.30891548del, NC_000013.11:g.30891548dup, NC_000013.11:g.30891547_30891548dup, NC_000013.11:g.30891546_30891548dup, NC_000013.11:g.30891545_30891548dup, NC_000013.11:g.30891539_30891548dup, NC_000013.10:g.31465676_31465685del, NC_000013.10:g.31465679_31465685del, NC_000013.10:g.31465681_31465685del, NC_000013.10:g.31465682_31465685del, NC_000013.10:g.31465683_31465685del, NC_000013.10:g.31465684_31465685del, NC_000013.10:g.31465685del, NC_000013.10:g.31465685dup, NC_000013.10:g.31465684_31465685dup, NC_000013.10:g.31465683_31465685dup, NC_000013.10:g.31465682_31465685dup, NC_000013.10:g.31465676_31465685dup
2.
rs1491414843 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 13:30910218
(GRCh38)
13:31484355
(GRCh37)
- Canonical SPDI:
- NC_000013.11:30910217:AT:
- Gene:
- MEDAG (Varview), TEX26-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000337/4
(
ALFA)
-=0.000212/56
(TOPMED)
-=0.000215/30
(GnomAD)
- HGVS:
4.
rs1491275509 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 13:30927034
(GRCh38)
13:31501171
(GRCh37)
- Canonical SPDI:
- NC_000013.11:30927032:TGT:T
- Gene:
- TEX26-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000674/8
(
ALFA)
-=0.00033/5
(TOMMO)
-=0.001904/231
(GnomAD)
- HGVS:
5.
rs1491157490 has merged into rs776549094 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 13:30927033
(GRCh38)
13:31501171
(GRCh37)
- Canonical SPDI:
- NC_000013.11:30927033:G:GG
- Gene:
- TEX26-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GG=0./0
(
ALFA)
G=0.0067/25
(TWINSUK)
G=0.0091/35
(ALSPAC)
- HGVS:
6.
rs1490977908 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 13:30921805
(GRCh38)
13:31495942
(GRCh37)
- Canonical SPDI:
- NC_000013.11:30921804:G:A
- Gene:
- MEDAG (Varview), TEX26-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000029/4
(GnomAD)
A=0.000049/13
(TOPMED)
- HGVS:
7.
rs1490782808 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 13:30898930
(GRCh38)
13:31473067
(GRCh37)
- Canonical SPDI:
- NC_000013.11:30898929:G:A
- Gene:
- TEX26-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
8.
rs1490780691 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 13:30914370
(GRCh38)
13:31488507
(GRCh37)
- Canonical SPDI:
- NC_000013.11:30914369:G:T
- Gene:
- MEDAG (Varview), TEX26-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
9.
rs1490755512 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 13:30884870
(GRCh38)
13:31459007
(GRCh37)
- Canonical SPDI:
- NC_000013.11:30884869:T:C
- Gene:
- TEX26-AS1 (Varview)
- Functional Consequence:
- genic_downstream_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:
10.
rs1490739359 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 13:30921775
(GRCh38)
13:31495912
(GRCh37)
- Canonical SPDI:
- NC_000013.11:30921774:T:C,NC_000013.11:30921774:T:G
- Gene:
- MEDAG (Varview), TEX26-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000013.11:g.30921775T>C, NC_000013.11:g.30921775T>G, NC_000013.10:g.31495912T>C, NC_000013.10:g.31495912T>G, NM_032849.4:c.716T>C, NM_032849.4:c.716T>G, NM_032849.3:c.716T>C, NM_032849.3:c.716T>G, XM_017020801.2:c.263T>C, XM_017020801.2:c.263T>G, XM_017020801.1:c.263T>C, XM_017020801.1:c.263T>G, NP_116238.3:p.Leu239Pro, NP_116238.3:p.Leu239Arg, XP_016876290.1:p.Leu88Pro, XP_016876290.1:p.Leu88Arg
11.
rs1490719031 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 13:30885838
(GRCh38)
13:31459975
(GRCh37)
- Canonical SPDI:
- NC_000013.11:30885837:A:G
- Gene:
- TEX26-AS1 (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:
13.
rs1490673498 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 13:30912802
(GRCh38)
13:31486939
(GRCh37)
- Canonical SPDI:
- NC_000013.11:30912801:G:A
- Gene:
- MEDAG (Varview), TEX26-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
14.
rs1490562825 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 13:30897551
(GRCh38)
13:31471688
(GRCh37)
- Canonical SPDI:
- NC_000013.11:30897550:A:G
- Gene:
- TEX26-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
15.
rs1490364647 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 13:30929066
(GRCh38)
13:31503203
(GRCh37)
- Canonical SPDI:
- NC_000013.11:30929065:G:C
- Gene:
- TEX26-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
C=0.000035/1
(TOMMO)
- HGVS:
16.
rs1490352491 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 13:30932618
(GRCh38)
13:31506755
(GRCh37)
- Canonical SPDI:
- NC_000013.11:30932617:T:A
- Gene:
- TEX26 (Varview), TEX26-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
A=0.0003/1
(KOREAN)
A=0.0005/1
(Korea1K)
- HGVS:
17.
rs1490260428 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 13:30902801
(GRCh38)
13:31476938
(GRCh37)
- Canonical SPDI:
- NC_000013.11:30902800:T:A,NC_000013.11:30902800:T:C
- Gene:
- TEX26-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000043/6
(GnomAD)
A=0.001667/1
(NorthernSweden)
- HGVS:
18.
rs1490244099 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 13:30905154
(GRCh38)
13:31479291
(GRCh37)
- Canonical SPDI:
- NC_000013.11:30905153:AAA:AA
- Gene:
- MEDAG (Varview), TEX26-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
-=0.000043/6
(GnomAD)
- HGVS:
19.
rs1490201631 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 13:30928609
(GRCh38)
13:31502746
(GRCh37)
- Canonical SPDI:
- NC_000013.11:30928608:A:G
- Gene:
- TEX26-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
20.
rs1490180230 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 13:30889086
(GRCh38)
13:31463223
(GRCh37)
- Canonical SPDI:
- NC_000013.11:30889085:C:A
- Gene:
- TEX26-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS: