Links from Gene
Items: 1 to 20 of 9675
1.
rs1491497094 has merged into rs10690083 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTT>-,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 12:9424839
(GRCh38)
12:9577435
(GRCh37)
- Canonical SPDI:
- NC_000012.12:9424826:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:9424826:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:9424826:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:9424826:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:9424826:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:9424826:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:9424826:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:9424826:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:9424826:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:9424826:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- DDX12P (Varview), LOC124902873 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
T=0.3644/1825
(1000Genomes)
- HGVS:
NC_000012.12:g.9424839_9424843del, NC_000012.12:g.9424841_9424843del, NC_000012.12:g.9424842_9424843del, NC_000012.12:g.9424843del, NC_000012.12:g.9424843dup, NC_000012.12:g.9424842_9424843dup, NC_000012.12:g.9424841_9424843dup, NC_000012.12:g.9424840_9424843dup, NC_000012.12:g.9424839_9424843dup, NC_000012.12:g.9424834_9424843dup, NC_000012.11:g.9577435_9577439del, NC_000012.11:g.9577437_9577439del, NC_000012.11:g.9577438_9577439del, NC_000012.11:g.9577439del, NC_000012.11:g.9577439dup, NC_000012.11:g.9577438_9577439dup, NC_000012.11:g.9577437_9577439dup, NC_000012.11:g.9577436_9577439dup, NC_000012.11:g.9577435_9577439dup, NC_000012.11:g.9577430_9577439dup
2.
rs1491360646 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 12:9420051
(GRCh38)
12:9572648
(GRCh37)
- Canonical SPDI:
- NC_000012.12:9420051:T:TT
- Gene:
- DDX12P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
4.
rs1491249785 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 12:9423419
(GRCh38)
12:9576015
(GRCh37)
- Canonical SPDI:
- NC_000012.12:9423418:CA:
- Gene:
- DDX12P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.01273/151
(
ALFA)
-=0.00568/93
(TOMMO)
- HGVS:
5.
rs1490978686 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 12:9419395
(GRCh38)
12:9571991
(GRCh37)
- Canonical SPDI:
- NC_000012.12:9419394:G:A,NC_000012.12:9419394:G:C
- Gene:
- DDX12P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000029/4
(GnomAD)
- HGVS:
6.
rs1490923102 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 12:9418816
(GRCh38)
12:9571412
(GRCh37)
- Canonical SPDI:
- NC_000012.12:9418815:C:A,NC_000012.12:9418815:C:T
- Gene:
- DDX12P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
7.
rs1490872634 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:9446009
(GRCh38)
12:9598605
(GRCh37)
- Canonical SPDI:
- NC_000012.12:9446008:T:C
- Gene:
- DDX12P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
- HGVS:
8.
rs1490813373 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 12:9433902
(GRCh38)
12:9586498
(GRCh37)
- Canonical SPDI:
- NC_000012.12:9433901:C:A,NC_000012.12:9433901:C:G
- Gene:
- DDX12P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
10.
rs1490713701 has merged into rs375342361 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 12:9423427
(GRCh38)
12:9576023
(GRCh37)
- Canonical SPDI:
- NC_000012.12:9423419:AAAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000012.12:9423419:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000012.12:9423419:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:9423419:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:9423419:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:9423419:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:9423419:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:9423419:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:9423419:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:9423419:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:9423419:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:9423419:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:9423419:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:9423419:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:9423419:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:9423419:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:9423419:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:9423419:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:9423419:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:9423419:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:9423419:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:9423419:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:9423419:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:9423419:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:9423419:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:9423419:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:9423419:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:9423419:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:9423419:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:9423419:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:9423419:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:9423419:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:9423419:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:9423419:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:9423419:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:9423419:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:9423419:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:9423419:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- DDX12P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000012.12:g.9423427_9423440del, NC_000012.12:g.9423429_9423440del, NC_000012.12:g.9423430_9423440del, NC_000012.12:g.9423431_9423440del, NC_000012.12:g.9423432_9423440del, NC_000012.12:g.9423433_9423440del, NC_000012.12:g.9423434_9423440del, NC_000012.12:g.9423435_9423440del, NC_000012.12:g.9423436_9423440del, NC_000012.12:g.9423437_9423440del, NC_000012.12:g.9423438_9423440del, NC_000012.12:g.9423439_9423440del, NC_000012.12:g.9423440del, NC_000012.12:g.9423440dup, NC_000012.12:g.9423439_9423440dup, NC_000012.12:g.9423438_9423440dup, NC_000012.12:g.9423437_9423440dup, NC_000012.12:g.9423436_9423440dup, NC_000012.12:g.9423435_9423440dup, NC_000012.12:g.9423434_9423440dup, NC_000012.12:g.9423433_9423440dup, NC_000012.12:g.9423432_9423440dup, NC_000012.12:g.9423431_9423440dup, NC_000012.12:g.9423430_9423440dup, NC_000012.12:g.9423429_9423440dup, NC_000012.12:g.9423428_9423440dup, NC_000012.12:g.9423427_9423440dup, NC_000012.12:g.9423426_9423440dup, NC_000012.12:g.9423425_9423440dup, NC_000012.12:g.9423424_9423440dup, NC_000012.12:g.9423423_9423440dup, NC_000012.12:g.9423422_9423440dup, NC_000012.12:g.9423420_9423440dup, NC_000012.12:g.9423440_9423441insAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.9423440_9423441insAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.9423440_9423441insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.9423440_9423441insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.9423440_9423441insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.9576023_9576036del, NC_000012.11:g.9576025_9576036del, NC_000012.11:g.9576026_9576036del, NC_000012.11:g.9576027_9576036del, NC_000012.11:g.9576028_9576036del, NC_000012.11:g.9576029_9576036del, NC_000012.11:g.9576030_9576036del, NC_000012.11:g.9576031_9576036del, NC_000012.11:g.9576032_9576036del, NC_000012.11:g.9576033_9576036del, NC_000012.11:g.9576034_9576036del, NC_000012.11:g.9576035_9576036del, NC_000012.11:g.9576036del, NC_000012.11:g.9576036dup, NC_000012.11:g.9576035_9576036dup, NC_000012.11:g.9576034_9576036dup, NC_000012.11:g.9576033_9576036dup, NC_000012.11:g.9576032_9576036dup, NC_000012.11:g.9576031_9576036dup, NC_000012.11:g.9576030_9576036dup, NC_000012.11:g.9576029_9576036dup, NC_000012.11:g.9576028_9576036dup, NC_000012.11:g.9576027_9576036dup, NC_000012.11:g.9576026_9576036dup, NC_000012.11:g.9576025_9576036dup, NC_000012.11:g.9576024_9576036dup, NC_000012.11:g.9576023_9576036dup, NC_000012.11:g.9576022_9576036dup, NC_000012.11:g.9576021_9576036dup, NC_000012.11:g.9576020_9576036dup, NC_000012.11:g.9576019_9576036dup, NC_000012.11:g.9576018_9576036dup, NC_000012.11:g.9576016_9576036dup, NC_000012.11:g.9576036_9576037insAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.9576036_9576037insAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.9576036_9576037insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.9576036_9576037insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.9576036_9576037insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
11.
rs1490662924 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 12:9445621
(GRCh38)
12:9598217
(GRCh37)
- Canonical SPDI:
- NC_000012.12:9445620:A:C
- Gene:
- DDX12P (Varview)
- Functional Consequence:
- 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:
12.
rs1490583158 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 12:9424375
(GRCh38)
12:9576971
(GRCh37)
- Canonical SPDI:
- NC_000012.12:9424374:G:A,NC_000012.12:9424374:G:C
- Gene:
- DDX12P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
A=0.000035/1
(TOMMO)
- HGVS:
13.
rs1490551626 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 12:9423657
(GRCh38)
12:9576253
(GRCh37)
- Canonical SPDI:
- NC_000012.12:9423656:G:A,NC_000012.12:9423656:G:T
- Gene:
- DDX12P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000011/3
(TOPMED)
T=0.000035/1
(TOMMO)
- HGVS:
14.
rs1490510933 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 12:9449700
(GRCh38)
12:9602296
(GRCh37)
- Canonical SPDI:
- NC_000012.12:9449699:A:C,NC_000012.12:9449699:A:G
- Gene:
- LOC408186 (Varview), DDX12P (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
- HGVS:
15.
rs1490484278 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 12:9423786
(GRCh38)
12:9576382
(GRCh37)
- Canonical SPDI:
- NC_000012.12:9423785:A:C,NC_000012.12:9423785:A:G
- Gene:
- DDX12P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
16.
rs1490445740 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 12:9449498
(GRCh38)
12:9602094
(GRCh37)
- Canonical SPDI:
- NC_000012.12:9449497:C:G,NC_000012.12:9449497:C:T
- Gene:
- LOC408186 (Varview), DDX12P (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
17.
rs1490440839 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:9421997
(GRCh38)
12:9574593
(GRCh37)
- Canonical SPDI:
- NC_000012.12:9421996:G:A
- Gene:
- DDX12P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
A=0.001769/30
(TOMMO)
A=0.005838/17
(KOREAN)
A=0.006004/11
(Korea1K)
- HGVS:
18.
rs1490412203 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C,T
[Show Flanks]
- Chromosome:
- 12:9448154
(GRCh38)
12:9600750
(GRCh37)
- Canonical SPDI:
- NC_000012.12:9448153:G:A,NC_000012.12:9448153:G:C,NC_000012.12:9448153:G:T
- Gene:
- LOC408186 (Varview), DDX12P (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
NC_000012.12:g.9448154G>A, NC_000012.12:g.9448154G>C, NC_000012.12:g.9448154G>T, NC_000012.11:g.9600750G>A, NC_000012.11:g.9600750G>C, NC_000012.11:g.9600750G>T, NR_033399.1:n.19C>T, NR_033399.1:n.19C>G, NR_033399.1:n.19C>A, NM_004400.1:c.-177C>T, NM_004400.1:c.-177C>G, NM_004400.1:c.-177C>A
19.
rs1490381492 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 12:9447003
(GRCh38)
12:9599599
(GRCh37)
- Canonical SPDI:
- NC_000012.12:9447002:C:A,NC_000012.12:9447002:C:G,NC_000012.12:9447002:C:T
- Gene:
- LOC408186 (Varview), DDX12P (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
20.
rs1490362739 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 12:9429000
(GRCh38)
12:9581596
(GRCh37)
- Canonical SPDI:
- NC_000012.12:9428999:G:C,NC_000012.12:9428999:G:T
- Gene:
- DDX12P (Varview), LOC124902873 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS: