Links from Gene
Items: 1 to 20 of 9008
1.
rs1491527537 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 13:21314472
(GRCh38)
13:21888611
(GRCh37)
- Canonical SPDI:
- NC_000013.11:21314469:CTCT:CT
- Gene:
- MIPEPP3 (Varview), LINC00539 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CTCT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
2.
rs1491518432 has merged into rs1555247882 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-,GTGT,GTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 13:21323196
(GRCh38)
13:21897335
(GRCh37)
- Canonical SPDI:
- NC_000013.11:21323183:GTGTGTGTGTGTGT:GTGTGTGTGTGT,NC_000013.11:21323183:GTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000013.11:21323183:GTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000013.11:21323183:GTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:21323183:GTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:21323183:GTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:21323183:GTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:21323183:GTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:21323183:GTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:21323183:GTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:21323183:GTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:21323183:GTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:21323183:GTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- MIPEPP3 (Varview), LINC00539 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGTGTGTGTGT=0./0
(
ALFA)
-=0.001519/402
(TOPMED)
- HGVS:
NC_000013.11:g.21323184GT[6], NC_000013.11:g.21323184GT[8], NC_000013.11:g.21323184GT[9], NC_000013.11:g.21323184GT[11], NC_000013.11:g.21323184GT[12], NC_000013.11:g.21323184GT[13], NC_000013.11:g.21323184GT[14], NC_000013.11:g.21323184GT[15], NC_000013.11:g.21323184GT[16], NC_000013.11:g.21323184GT[17], NC_000013.11:g.21323184GT[18], NC_000013.11:g.21323184GT[19], NC_000013.11:g.21323184GT[20], NC_000013.10:g.21897323GT[6], NC_000013.10:g.21897323GT[8], NC_000013.10:g.21897323GT[9], NC_000013.10:g.21897323GT[11], NC_000013.10:g.21897323GT[12], NC_000013.10:g.21897323GT[13], NC_000013.10:g.21897323GT[14], NC_000013.10:g.21897323GT[15], NC_000013.10:g.21897323GT[16], NC_000013.10:g.21897323GT[17], NC_000013.10:g.21897323GT[18], NC_000013.10:g.21897323GT[19], NC_000013.10:g.21897323GT[20]
3.
rs1491448202 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GT,GTGTGT,GTGTGTGT
[Show Flanks]
- Chromosome:
- 13:21314470
(GRCh38)
13:21888610
(GRCh37)
- Canonical SPDI:
- NC_000013.11:21314470:T:TGT,NC_000013.11:21314470:T:TGTGTGT,NC_000013.11:21314470:T:TGTGTGTGT
- Gene:
- MIPEPP3 (Varview), LINC00539 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGT=0./0
(
ALFA)
TGTGTGTG=0.000004/1
(TOPMED)
- HGVS:
4.
rs1491423225 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CGTGTGTGTG
[Show Flanks]
- Chromosome:
- 13:21314473
(GRCh38)
13:21888613
(GRCh37)
- Canonical SPDI:
- NC_000013.11:21314473:GTGTGTGTG:GTGTGTGTGCGTGTGTGTG
- Gene:
- MIPEPP3 (Varview), LINC00539 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GTGTGTGTGCGTGTGTGTG=0./0
(
ALFA)
- HGVS:
5.
rs1491334402 has merged into rs113329720 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AGAGAGAG>-,AG,AGAG,AGAGAG,AGAGAGAGAG,AGAGAGAGAGAG,AGAGAGAGAGAGAG,AGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAG
[Show Flanks]
- Chromosome:
- 13:21323177
(GRCh38)
13:21897316
(GRCh37)
- Canonical SPDI:
- NC_000013.11:21323162:AGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAG,NC_000013.11:21323162:AGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAG,NC_000013.11:21323162:AGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAG,NC_000013.11:21323162:AGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAG,NC_000013.11:21323162:AGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAG,NC_000013.11:21323162:AGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000013.11:21323162:AGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000013.11:21323162:AGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000013.11:21323162:AGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG
- Gene:
- MIPEPP3 (Varview), LINC00539 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAGAGAGAGAGAGAG=0./0
(
ALFA)
AGAGAGAGAGAG=0.000008/2
(TOPMED)
AG=0.125/5
(GENOME_DK)
AG=0.305/183
(NorthernSweden)
-=0.370208/1854
(1000Genomes)
-=0.391509/83
(Vietnamese)
- HGVS:
NC_000013.11:g.21323163AG[7], NC_000013.11:g.21323163AG[8], NC_000013.11:g.21323163AG[9], NC_000013.11:g.21323163AG[10], NC_000013.11:g.21323163AG[12], NC_000013.11:g.21323163AG[13], NC_000013.11:g.21323163AG[14], NC_000013.11:g.21323163AG[15], NC_000013.11:g.21323163AG[17], NC_000013.10:g.21897302AG[7], NC_000013.10:g.21897302AG[8], NC_000013.10:g.21897302AG[9], NC_000013.10:g.21897302AG[10], NC_000013.10:g.21897302AG[12], NC_000013.10:g.21897302AG[13], NC_000013.10:g.21897302AG[14], NC_000013.10:g.21897302AG[15], NC_000013.10:g.21897302AG[17]
7.
rs1491237785 has merged into rs149836651 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGTGTGTGTGTGTGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
[Show Flanks]
- Chromosome:
- 13:21314489
(GRCh38)
13:21888628
(GRCh37)
- Canonical SPDI:
- NC_000013.11:21314472:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTG,NC_000013.11:21314472:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG,NC_000013.11:21314472:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTG,NC_000013.11:21314472:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTG,NC_000013.11:21314472:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTG,NC_000013.11:21314472:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000013.11:21314472:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000013.11:21314472:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000013.11:21314472:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000013.11:21314472:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000013.11:21314472:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000013.11:21314472:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000013.11:21314472:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000013.11:21314472:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000013.11:21314472:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000013.11:21314472:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000013.11:21314472:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000013.11:21314472:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000013.11:21314472:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000013.11:21314472:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000013.11:21314472:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
- Gene:
- MIPEPP3 (Varview), LINC00539 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGTG=0./0
(
ALFA)
-=0.2985/1495
(1000Genomes)
- HGVS:
NC_000013.11:g.21314473TG[8], NC_000013.11:g.21314473TG[9], NC_000013.11:g.21314473TG[10], NC_000013.11:g.21314473TG[11], NC_000013.11:g.21314473TG[12], NC_000013.11:g.21314473TG[13], NC_000013.11:g.21314473TG[14], NC_000013.11:g.21314473TG[15], NC_000013.11:g.21314473TG[16], NC_000013.11:g.21314473TG[17], NC_000013.11:g.21314473TG[19], NC_000013.11:g.21314473TG[20], NC_000013.11:g.21314473TG[21], NC_000013.11:g.21314473TG[22], NC_000013.11:g.21314473TG[23], NC_000013.11:g.21314473TG[24], NC_000013.11:g.21314473TG[25], NC_000013.11:g.21314473TG[26], NC_000013.11:g.21314473TG[27], NC_000013.11:g.21314473TG[28], NC_000013.11:g.21314473TG[29], NC_000013.10:g.21888612TG[8], NC_000013.10:g.21888612TG[9], NC_000013.10:g.21888612TG[10], NC_000013.10:g.21888612TG[11], NC_000013.10:g.21888612TG[12], NC_000013.10:g.21888612TG[13], NC_000013.10:g.21888612TG[14], NC_000013.10:g.21888612TG[15], NC_000013.10:g.21888612TG[16], NC_000013.10:g.21888612TG[17], NC_000013.10:g.21888612TG[19], NC_000013.10:g.21888612TG[20], NC_000013.10:g.21888612TG[21], NC_000013.10:g.21888612TG[22], NC_000013.10:g.21888612TG[23], NC_000013.10:g.21888612TG[24], NC_000013.10:g.21888612TG[25], NC_000013.10:g.21888612TG[26], NC_000013.10:g.21888612TG[27], NC_000013.10:g.21888612TG[28], NC_000013.10:g.21888612TG[29]
8.
rs1491051946 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GG>-
[Show Flanks]
- Chromosome:
- 13:21314508
(GRCh38)
13:21888647
(GRCh37)
- Canonical SPDI:
- NC_000013.11:21314507:GG:
- Gene:
- MIPEPP3 (Varview), LINC00539 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
9.
rs1491021271 has merged into rs57244112 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAA,AAAAA,AAAAAA
[Show Flanks]
- Chromosome:
- 13:21310330
(GRCh38)
13:21884469
(GRCh37)
- Canonical SPDI:
- NC_000013.11:21310317:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:21310317:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:21310317:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:21310317:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:21310317:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000013.11:21310317:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
- Gene:
- MIPEPP3 (Varview), LINC00539 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
-=0.3059/1532
(1000Genomes)
-=0.3389/202
(NorthernSweden)
- HGVS:
NC_000013.11:g.21310330_21310331del, NC_000013.11:g.21310331del, NC_000013.11:g.21310331dup, NC_000013.11:g.21310330_21310331dup, NC_000013.11:g.21310329_21310331dup, NC_000013.11:g.21310328_21310331dup, NC_000013.10:g.21884469_21884470del, NC_000013.10:g.21884470del, NC_000013.10:g.21884470dup, NC_000013.10:g.21884469_21884470dup, NC_000013.10:g.21884468_21884470dup, NC_000013.10:g.21884467_21884470dup
11.
rs1490923835 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 13:21341092
(GRCh38)
13:21915231
(GRCh37)
- Canonical SPDI:
- NC_000013.11:21341091:A:G
- Gene:
- MIPEPP3 (Varview), LINC00539 (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=0.000007/1
(GnomAD)
- HGVS:
12.
rs1490906548 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 13:21308560
(GRCh38)
13:21882699
(GRCh37)
- Canonical SPDI:
- NC_000013.11:21308559:G:A
- Gene:
- MIPEPP3 (Varview), LINC00539 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
13.
rs1490888155 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 13:21341917
(GRCh38)
13:21916056
(GRCh37)
- Canonical SPDI:
- NC_000013.11:21341916:C:G
- Gene:
- MIPEPP3 (Varview), LINC00539 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
14.
rs1490762018 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 13:21323376
(GRCh38)
13:21897515
(GRCh37)
- Canonical SPDI:
- NC_000013.11:21323375:C:G
- Gene:
- MIPEPP3 (Varview), LINC00539 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000076/20
(TOPMED)
G=0.000078/11
(GnomAD)
- HGVS:
15.
rs1490647730 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 13:21326794
(GRCh38)
13:21900933
(GRCh37)
- Canonical SPDI:
- NC_000013.11:21326793:T:G
- Gene:
- MIPEPP3 (Varview), LINC00539 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
16.
rs1490635502 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 13:21317736
(GRCh38)
13:21891875
(GRCh37)
- Canonical SPDI:
- NC_000013.11:21317735:T:C
- Gene:
- GRK6P1 (Varview), MIPEPP3 (Varview), LINC00539 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
17.
rs1490577454 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 13:21332156
(GRCh38)
13:21906295
(GRCh37)
- Canonical SPDI:
- NC_000013.11:21332155:T:C
- Gene:
- MIPEPP3 (Varview), LINC00539 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
18.
rs1490561746 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 13:21333276
(GRCh38)
13:21907415
(GRCh37)
- Canonical SPDI:
- NC_000013.11:21333275:A:G
- Gene:
- MIPEPP3 (Varview), LINC00539 (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)
- HGVS:
19.
rs1490454083 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CCT>-
[Show Flanks]
- Chromosome:
- 13:21344062
(GRCh38)
13:21918201
(GRCh37)
- Canonical SPDI:
- NC_000013.11:21344053:CTCCTCCTCCT:CTCCTCCT
- Gene:
- MIPEPP3 (Varview), LINC00539 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CTCCTCCT=0./0
(
ALFA)
-=0.000017/2
(GnomAD)
- HGVS:
20.
rs1490422829 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 13:21309282
(GRCh38)
13:21883421
(GRCh37)
- Canonical SPDI:
- NC_000013.11:21309281:G:A
- Gene:
- MIPEPP3 (Varview), LINC00539 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000019/5
(TOPMED)
- HGVS: