Links from Gene
Items: 1 to 20 of 1000
1.
rs1491530982 has merged into rs72206117 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACACACACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACA
[Show Flanks]
- Chromosome:
- 2:74565844
(GRCh38)
2:74792971
(GRCh37)
- Canonical SPDI:
- NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACA,NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACA,NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACA,NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACA,NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACA,NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACA,NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACA,NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACA,NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA,NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACA,NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACA,NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA,NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
- Gene:
- M1AP (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACACACACACACACACA=0./0
(
ALFA)
CACACACACACA=0.0024/12
(1000Genomes)
- HGVS:
NC_000002.12:g.74565826CA[9], NC_000002.12:g.74565826CA[10], NC_000002.12:g.74565826CA[11], NC_000002.12:g.74565826CA[12], NC_000002.12:g.74565826CA[13], NC_000002.12:g.74565826CA[14], NC_000002.12:g.74565826CA[15], NC_000002.12:g.74565826CA[16], NC_000002.12:g.74565826CA[17], NC_000002.12:g.74565826CA[18], NC_000002.12:g.74565826CA[19], NC_000002.12:g.74565826CA[20], NC_000002.12:g.74565826CA[22], NC_000002.12:g.74565826CA[23], NC_000002.12:g.74565826CA[24], NC_000002.12:g.74565826CA[25], NC_000002.12:g.74565826CA[26], NC_000002.12:g.74565826CA[27], NC_000002.12:g.74565826CA[28], NC_000002.12:g.74565826CA[29], NC_000002.12:g.74565826CA[30], NC_000002.12:g.74565826CA[33], NC_000002.11:g.74792953CA[9], NC_000002.11:g.74792953CA[10], NC_000002.11:g.74792953CA[11], NC_000002.11:g.74792953CA[12], NC_000002.11:g.74792953CA[13], NC_000002.11:g.74792953CA[14], NC_000002.11:g.74792953CA[15], NC_000002.11:g.74792953CA[16], NC_000002.11:g.74792953CA[17], NC_000002.11:g.74792953CA[18], NC_000002.11:g.74792953CA[19], NC_000002.11:g.74792953CA[20], NC_000002.11:g.74792953CA[22], NC_000002.11:g.74792953CA[23], NC_000002.11:g.74792953CA[24], NC_000002.11:g.74792953CA[25], NC_000002.11:g.74792953CA[26], NC_000002.11:g.74792953CA[27], NC_000002.11:g.74792953CA[28], NC_000002.11:g.74792953CA[29], NC_000002.11:g.74792953CA[30], NC_000002.11:g.74792953CA[33]
5.
rs1491361664 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 2:74584831
(GRCh38)
2:74811958
(GRCh37)
- Canonical SPDI:
- NC_000002.12:74584828:TTTT:TT
- Gene:
- M1AP (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTT=0./0
(
ALFA)
-=0./0
(GnomAD)
-=0.000283/5
(TOMMO)
- HGVS:
6.
rs1491335843 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 2:74565867
(GRCh38)
2:74792995
(GRCh37)
- Canonical SPDI:
- NC_000002.12:74565867::C
- Gene:
- M1AP (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
C=0.00003/4
(GnomAD)
C=0.00046/8
(TOMMO)
- HGVS:
7.
rs1491241055 has merged into rs1337799000 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 2:74626270
(GRCh38)
2:74853397
(GRCh37)
- Canonical SPDI:
- NC_000002.12:74626257:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:74626257:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:74626257:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:74626257:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:74626257:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:74626257:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:74626257:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:74626257:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:74626257:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:74626257:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:74626257:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:74626257:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:74626257:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- M1AP (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
-=0.000019/5
(TOPMED)
- HGVS:
NC_000002.12:g.74626270_74626277del, NC_000002.12:g.74626271_74626277del, NC_000002.12:g.74626273_74626277del, NC_000002.12:g.74626274_74626277del, NC_000002.12:g.74626275_74626277del, NC_000002.12:g.74626276_74626277del, NC_000002.12:g.74626277del, NC_000002.12:g.74626277dup, NC_000002.12:g.74626276_74626277dup, NC_000002.12:g.74626275_74626277dup, NC_000002.12:g.74626274_74626277dup, NC_000002.12:g.74626273_74626277dup, NC_000002.12:g.74626271_74626277dup, NC_000002.11:g.74853397_74853404del, NC_000002.11:g.74853398_74853404del, NC_000002.11:g.74853400_74853404del, NC_000002.11:g.74853401_74853404del, NC_000002.11:g.74853402_74853404del, NC_000002.11:g.74853403_74853404del, NC_000002.11:g.74853404del, NC_000002.11:g.74853404dup, NC_000002.11:g.74853403_74853404dup, NC_000002.11:g.74853402_74853404dup, NC_000002.11:g.74853401_74853404dup, NC_000002.11:g.74853400_74853404dup, NC_000002.11:g.74853398_74853404dup
9.
rs1491210064 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 2:74569376
(GRCh38)
2:74796504
(GRCh37)
- Canonical SPDI:
- NC_000002.12:74569376:C:CC
- Gene:
- M1AP (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
CC=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
10.
rs1491204297 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 2:74626257
(GRCh38)
2:74853384
(GRCh37)
- Canonical SPDI:
- NC_000002.12:74626256:GT:
- Gene:
- M1AP (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000176/22
(GnomAD)
- HGVS:
11.
rs1491131214 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 2:74584829
(GRCh38)
2:74811957
(GRCh37)
- Canonical SPDI:
- NC_000002.12:74584829::A
- Gene:
- M1AP (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
A=0.00003/4
(GnomAD)
A=0.000071/1
(TOMMO)
- HGVS:
12.
rs1491130106 has merged into rs534856535 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 2:74598633
(GRCh38)
2:74825760
(GRCh37)
- Canonical SPDI:
- NC_000002.12:74598621:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:74598621:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:74598621:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:74598621:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:74598621:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:74598621:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:74598621:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:74598621:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:74598621:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:74598621:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:74598621:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:74598621:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:74598621:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:74598621:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:74598621:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- M1AP (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
TT=0.497804/2493
(1000Genomes)
- HGVS:
NC_000002.12:g.74598633_74598642del, NC_000002.12:g.74598634_74598642del, NC_000002.12:g.74598636_74598642del, NC_000002.12:g.74598637_74598642del, NC_000002.12:g.74598638_74598642del, NC_000002.12:g.74598639_74598642del, NC_000002.12:g.74598640_74598642del, NC_000002.12:g.74598641_74598642del, NC_000002.12:g.74598642del, NC_000002.12:g.74598642dup, NC_000002.12:g.74598641_74598642dup, NC_000002.12:g.74598640_74598642dup, NC_000002.12:g.74598639_74598642dup, NC_000002.12:g.74598638_74598642dup, NC_000002.12:g.74598637_74598642dup, NC_000002.11:g.74825760_74825769del, NC_000002.11:g.74825761_74825769del, NC_000002.11:g.74825763_74825769del, NC_000002.11:g.74825764_74825769del, NC_000002.11:g.74825765_74825769del, NC_000002.11:g.74825766_74825769del, NC_000002.11:g.74825767_74825769del, NC_000002.11:g.74825768_74825769del, NC_000002.11:g.74825769del, NC_000002.11:g.74825769dup, NC_000002.11:g.74825768_74825769dup, NC_000002.11:g.74825767_74825769dup, NC_000002.11:g.74825766_74825769dup, NC_000002.11:g.74825765_74825769dup, NC_000002.11:g.74825764_74825769dup
13.
rs1491078493 has merged into rs10709998 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 2:74641861
(GRCh38)
2:74868988
(GRCh37)
- Canonical SPDI:
- NC_000002.12:74641847:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:74641847:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:74641847:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:74641847:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:74641847:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:74641847:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:74641847:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- M1AP (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000002.12:g.74641861_74641863del, NC_000002.12:g.74641862_74641863del, NC_000002.12:g.74641863del, NC_000002.12:g.74641863dup, NC_000002.12:g.74641862_74641863dup, NC_000002.12:g.74641861_74641863dup, NC_000002.12:g.74641855_74641863dup, NC_000002.11:g.74868988_74868990del, NC_000002.11:g.74868989_74868990del, NC_000002.11:g.74868990del, NC_000002.11:g.74868990dup, NC_000002.11:g.74868989_74868990dup, NC_000002.11:g.74868988_74868990dup, NC_000002.11:g.74868982_74868990dup
14.
rs1491034909 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ATATTT,ATTT
[Show Flanks]
- Chromosome:
- 2:74584828
(GRCh38)
2:74811956
(GRCh37)
- Canonical SPDI:
- NC_000002.12:74584828:T:TATATTT,NC_000002.12:74584828:T:TATTT
- Gene:
- M1AP (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TATTT=0./0
(
ALFA)
TATATT=0.000008/1
(GnomAD)
- HGVS:
15.
rs1490998981 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:74618159
(GRCh38)
2:74845286
(GRCh37)
- Canonical SPDI:
- NC_000002.12:74618158:T:C
- Gene:
- M1AP (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
16.
rs1490980008 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:74642592
(GRCh38)
2:74869719
(GRCh37)
- Canonical SPDI:
- NC_000002.12:74642591:T:C
- Gene:
- M1AP (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
17.
rs1490959121 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:74567029
(GRCh38)
2:74794156
(GRCh37)
- Canonical SPDI:
- NC_000002.12:74567028:C:T
- Gene:
- M1AP (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
18.
rs1490909402 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 2:74574350
(GRCh38)
2:74801477
(GRCh37)
- Canonical SPDI:
- NC_000002.12:74574349:C:G,NC_000002.12:74574349:C:T
- Gene:
- M1AP (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
19.
rs1490881890 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:74609992
(GRCh38)
2:74837119
(GRCh37)
- Canonical SPDI:
- NC_000002.12:74609991:T:C
- Gene:
- M1AP (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
20.
rs1490738444 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:74634299
(GRCh38)
2:74861426
(GRCh37)
- Canonical SPDI:
- NC_000002.12:74634298:G:A
- Gene:
- M1AP (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.000007/1
(GnomAD)
- HGVS: