Links from Gene
Items: 1 to 20 of 5299
1.
rs1491578787 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 10:19719219
(GRCh38)
10:20008148
(GRCh37)
- Canonical SPDI:
- NC_000010.11:19719217:ACA:A
- Gene:
- MALRD1 (Varview), LOC101928834 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.0002/11
(GnomAD)
- HGVS:
2.
rs1491530111 has merged into rs35599289 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-,GG,GGG
[Show Flanks]
- Chromosome:
- 10:19713045
(GRCh38)
10:20001974
(GRCh37)
- Canonical SPDI:
- NC_000010.11:19713044:GGGGGGGG:GGGGGGG,NC_000010.11:19713044:GGGGGGGG:GGGGGGGGG,NC_000010.11:19713044:GGGGGGGG:GGGGGGGGGG
- Gene:
- MALRD1 (Varview), LOC101928834 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGGGGGG=0.000108/1
(
ALFA)
G=0.420429/1881
(Estonian)
G=0.442857/93
(Vietnamese)
G=0.449481/2251
(1000Genomes)
G=0.455242/120498
(TOPMED)
G=0.464883/278
(NorthernSweden)
G=0.475/19
(GENOME_DK)
G=0.475528/855
(Korea1K)
G=0.476648/1837
(ALSPAC)
G=0.480313/1781
(TWINSUK)
- HGVS:
4.
rs1491423253 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 10:19719223
(GRCh38)
10:20008152
(GRCh37)
- Canonical SPDI:
- NC_000010.11:19719221:ACA:A
- Gene:
- MALRD1 (Varview), LOC101928834 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00008/1
(
ALFA)
-=0.00008/5
(GnomAD)
-=0.00046/13
(TOMMO)
- HGVS:
5.
rs1491406524 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GTGT,GTGTGT,GTTT
[Show Flanks]
- Chromosome:
- 10:19719216
(GRCh38)
10:20008146
(GRCh37)
- Canonical SPDI:
- NC_000010.11:19719216:T:TGTGT,NC_000010.11:19719216:T:TGTGTGT,NC_000010.11:19719216:T:TGTTT
- Gene:
- MALRD1 (Varview), LOC101928834 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by cluster
- MAF:
TGTGTG=0.00002/1
(GnomAD)
TGTG=0.00119/2
(Korea1K)
- HGVS:
6.
rs1491272703 has merged into rs1366048990 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-,TATA,TATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATATATATATATATATATATATATATATA,TATATATATATATGTGTATATA,TATATATATATATGTGTATATATA
[Show Flanks]
- Chromosome:
- 10:19719217
(GRCh38)
10:20008146
(GRCh37)
- Canonical SPDI:
- NC_000010.11:19719215:ATA:A,NC_000010.11:19719215:ATA:ATATA,NC_000010.11:19719215:ATA:ATATATA,NC_000010.11:19719215:ATA:ATATATATA,NC_000010.11:19719215:ATA:ATATATATATA,NC_000010.11:19719215:ATA:ATATATATATATA,NC_000010.11:19719215:ATA:ATATATATATATATATATATATATATATATATATATATATA,NC_000010.11:19719215:ATA:ATATATATATATATGTGTATATA,NC_000010.11:19719215:ATA:ATATATATATATATGTGTATATATA
- Gene:
- MALRD1 (Varview), LOC101928834 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000010.11:g.19719217_19719218del, NC_000010.11:g.19719217_19719218dup, NC_000010.11:g.19719217TA[3], NC_000010.11:g.19719217TA[4], NC_000010.11:g.19719217TA[5], NC_000010.11:g.19719217TA[6], NC_000010.11:g.19719217TA[20], NC_000010.11:g.19719216_19719218AT[7]GT[2]AT[2]A[1], NC_000010.11:g.19719216_19719218AT[7]GT[2]AT[3]A[1], NC_000010.10:g.20008146_20008147del, NC_000010.10:g.20008146_20008147dup, NC_000010.10:g.20008146TA[3], NC_000010.10:g.20008146TA[4], NC_000010.10:g.20008146TA[5], NC_000010.10:g.20008146TA[6], NC_000010.10:g.20008146TA[20], NC_000010.10:g.20008145_20008147AT[7]GT[2]AT[2]A[1], NC_000010.10:g.20008145_20008147AT[7]GT[2]AT[3]A[1]
7.
rs1491221923 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ATAGGATCCTTTCGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 10:19729572
(GRCh38)
10:20018502
(GRCh37)
- Canonical SPDI:
- NC_000010.11:19729572:TGTGTGTATAGGATCCTTTCGTGTGTGTGTGT:TGTGTGTATAGGATCCTTTCGTGTGTGTGTGTATAGGATCCTTTCGTGTGTGTGTGT
- Gene:
- MALRD1 (Varview), LOC101928834 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TGTGTGTATAGGATCCTTTCGTGTGTGTGTGTATAGGATCCTTTCGTGTGTGTGTGT=0./0
(
ALFA)
TGTGTGTATAGGATCCTTTCGTGTG=0.00008/11
(GnomAD)
- HGVS:
8.
rs1491196041 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CG>-
[Show Flanks]
- Chromosome:
- 10:19729592
(GRCh38)
10:20018521
(GRCh37)
- Canonical SPDI:
- NC_000010.11:19729591:CG:
- Gene:
- MALRD1 (Varview), LOC101928834 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
9.
rs1491135872 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 10:19713044
(GRCh38)
10:20001973
(GRCh37)
- Canonical SPDI:
- NC_000010.11:19713043:AG:
- Gene:
- MALRD1 (Varview), LOC101928834 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000019/5
(TOPMED)
-=0.000023/2
(GnomAD)
- HGVS:
10.
rs1491126854 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TATGTGTGTG,TG,TGTGTG
[Show Flanks]
- Chromosome:
- 10:19719218
(GRCh38)
10:20008148
(GRCh37)
- Canonical SPDI:
- NC_000010.11:19719218::TATGTGTGTG,NC_000010.11:19719218::TG,NC_000010.11:19719218::TGTGTG
- Gene:
- MALRD1 (Varview), LOC101928834 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by cluster
- MAF:
TG=0.00002/1
(GnomAD)
- HGVS:
11.
rs1491076824 has merged into rs34633700 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AGAAGAAGAAGA>-,AGA,AGAAGA,AGAAGAAGA,AGAAGAAGAAGAAGA,AGAAGAAGAAGAAGAAGA
[Show Flanks]
- Chromosome:
- 10:19718116
(GRCh38)
10:20007045
(GRCh37)
- Canonical SPDI:
- NC_000010.11:19718107:GAAGAAGAAGAAGAAGAAGA:GAAGAAGA,NC_000010.11:19718107:GAAGAAGAAGAAGAAGAAGA:GAAGAAGAAGA,NC_000010.11:19718107:GAAGAAGAAGAAGAAGAAGA:GAAGAAGAAGAAGA,NC_000010.11:19718107:GAAGAAGAAGAAGAAGAAGA:GAAGAAGAAGAAGAAGA,NC_000010.11:19718107:GAAGAAGAAGAAGAAGAAGA:GAAGAAGAAGAAGAAGAAGAAGA,NC_000010.11:19718107:GAAGAAGAAGAAGAAGAAGA:GAAGAAGAAGAAGAAGAAGAAGAAGA
- Gene:
- MALRD1 (Varview), LOC101928834 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GAAGAAGAAGAAGAAGAAGAAGA=0./0
(
ALFA)
-=0.0013/5
(ALSPAC)
GAA=0.4563/2285
(1000Genomes)
GAA=0.475/19
(GENOME_DK)
- HGVS:
NC_000010.11:g.19718110AGA[2], NC_000010.11:g.19718110AGA[3], NC_000010.11:g.19718110AGA[4], NC_000010.11:g.19718110AGA[5], NC_000010.11:g.19718110AGA[7], NC_000010.11:g.19718110AGA[8], NC_000010.10:g.20007039AGA[2], NC_000010.10:g.20007039AGA[3], NC_000010.10:g.20007039AGA[4], NC_000010.10:g.20007039AGA[5], NC_000010.10:g.20007039AGA[7], NC_000010.10:g.20007039AGA[8]
12.
rs1490982727 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 10:19714702
(GRCh38)
10:20003631
(GRCh37)
- Canonical SPDI:
- NC_000010.11:19714701:A:G
- Gene:
- MALRD1 (Varview), LOC101928834 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
13.
rs1490948465 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 10:19711998
(GRCh38)
10:20000927
(GRCh37)
- Canonical SPDI:
- NC_000010.11:19711997:C:T
- Gene:
- MALRD1 (Varview), LOC101928834 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.0002/1
(
ALFA)
T=0.0002/1
(Estonian)
- HGVS:
14.
rs1490903897 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 10:19727344
(GRCh38)
10:20016273
(GRCh37)
- Canonical SPDI:
- NC_000010.11:19727343:A:G
- Gene:
- MALRD1 (Varview), LOC101928834 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000015/4
(TOPMED)
- HGVS:
15.
rs1490878730 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 10:19728201
(GRCh38)
10:20017130
(GRCh37)
- Canonical SPDI:
- NC_000010.11:19728200:G:
- Gene:
- MALRD1 (Varview), LOC101928834 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000008/2
(TOPMED)
- HGVS:
16.
rs1490530160 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 10:19720130
(GRCh38)
10:20009059
(GRCh37)
- Canonical SPDI:
- NC_000010.11:19720129:A:G
- Gene:
- MALRD1 (Varview), LOC101928834 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
18.
rs1490413688 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 10:19726927
(GRCh38)
10:20015856
(GRCh37)
- Canonical SPDI:
- NC_000010.11:19726926:T:A
- Gene:
- MALRD1 (Varview), LOC101928834 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
19.
rs1489949996 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 10:19714707
(GRCh38)
10:20003636
(GRCh37)
- Canonical SPDI:
- NC_000010.11:19714706:A:G
- Gene:
- MALRD1 (Varview), LOC101928834 (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.
rs1489922576 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 10:19726511
(GRCh38)
10:20015440
(GRCh37)
- Canonical SPDI:
- NC_000010.11:19726510:A:G
- Gene:
- MALRD1 (Varview), LOC101928834 (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: