Links from Gene
Items: 1 to 20 of 2310
1.
rs1491555660 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CG>-
[Show Flanks]
- Chromosome:
- 12:7715793
(GRCh38)
12:7868389
(GRCh37)
- Canonical SPDI:
- NC_000012.12:7715791:GCG:G
- Gene:
- DPPA3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
2.
rs1491527600 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TA,TTA
[Show Flanks]
- Chromosome:
- 12:7711749
(GRCh38)
12:7864346
(GRCh37)
- Canonical SPDI:
- NC_000012.12:7711749::TA,NC_000012.12:7711749::TTA
- Gene:
- DPPA3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TTA=0./0
(
ALFA)
TA=0.00017/16
(GnomAD)
- HGVS:
3.
rs1491514467 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 12:7711749
(GRCh38)
12:7864345
(GRCh37)
- Canonical SPDI:
- NC_000012.12:7711748:TA:
- Gene:
- DPPA3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.00006/1
(
ALFA)
-=0.00033/9
(TOMMO)
- HGVS:
5.
rs1491043834 has merged into rs35565808 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAA>-,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAGAAAAAAACTGAAGAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 12:7711150
(GRCh38)
12:7863746
(GRCh37)
- Canonical SPDI:
- NC_000012.12:7711144:AAAAAAAAAAAAAAAAAAAAA:AAAAA,NC_000012.12:7711144:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:7711144:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:7711144:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:7711144:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:7711144:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:7711144:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:7711144:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:7711144:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:7711144:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:7711144:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:7711144:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:7711144:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:7711144:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:7711144:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:7711144:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:7711144:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:7711144:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:7711144:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:7711144:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:7711144:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:7711144:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:7711144:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:7711144:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:7711144:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:7711144:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:7711144:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:7711144:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:7711144:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:7711144:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:7711144:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:7711144:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:7711144:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:7711144:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:7711144:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:7711144:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAACTGAAGAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- DPPA3 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
-=0./0
(GENOME_DK)
A=0.0104/52
(1000Genomes)
- HGVS:
NC_000012.12:g.7711150_7711165del, NC_000012.12:g.7711155_7711165del, NC_000012.12:g.7711156_7711165del, NC_000012.12:g.7711157_7711165del, NC_000012.12:g.7711158_7711165del, NC_000012.12:g.7711159_7711165del, NC_000012.12:g.7711160_7711165del, NC_000012.12:g.7711161_7711165del, NC_000012.12:g.7711162_7711165del, NC_000012.12:g.7711163_7711165del, NC_000012.12:g.7711164_7711165del, NC_000012.12:g.7711165del, NC_000012.12:g.7711165dup, NC_000012.12:g.7711164_7711165dup, NC_000012.12:g.7711163_7711165dup, NC_000012.12:g.7711162_7711165dup, NC_000012.12:g.7711161_7711165dup, NC_000012.12:g.7711160_7711165dup, NC_000012.12:g.7711159_7711165dup, NC_000012.12:g.7711158_7711165dup, NC_000012.12:g.7711157_7711165dup, NC_000012.12:g.7711156_7711165dup, NC_000012.12:g.7711155_7711165dup, NC_000012.12:g.7711154_7711165dup, NC_000012.12:g.7711153_7711165dup, NC_000012.12:g.7711152_7711165dup, NC_000012.12:g.7711151_7711165dup, NC_000012.12:g.7711150_7711165dup, NC_000012.12:g.7711149_7711165dup, NC_000012.12:g.7711148_7711165dup, NC_000012.12:g.7711147_7711165dup, NC_000012.12:g.7711146_7711165dup, NC_000012.12:g.7711165_7711166insAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.7711145_7711165A[42]TAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000012.12:g.7711145_7711165A[27]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000012.12:g.7711145_7711165A[25]GAAAAAAACTGAAGAAAAAAAAAAAAAAAAAAAAAA[1], NC_000012.11:g.7863746_7863761del, NC_000012.11:g.7863751_7863761del, NC_000012.11:g.7863752_7863761del, NC_000012.11:g.7863753_7863761del, NC_000012.11:g.7863754_7863761del, NC_000012.11:g.7863755_7863761del, NC_000012.11:g.7863756_7863761del, NC_000012.11:g.7863757_7863761del, NC_000012.11:g.7863758_7863761del, NC_000012.11:g.7863759_7863761del, NC_000012.11:g.7863760_7863761del, NC_000012.11:g.7863761del, NC_000012.11:g.7863761dup, NC_000012.11:g.7863760_7863761dup, NC_000012.11:g.7863759_7863761dup, NC_000012.11:g.7863758_7863761dup, NC_000012.11:g.7863757_7863761dup, NC_000012.11:g.7863756_7863761dup, NC_000012.11:g.7863755_7863761dup, NC_000012.11:g.7863754_7863761dup, NC_000012.11:g.7863753_7863761dup, NC_000012.11:g.7863752_7863761dup, NC_000012.11:g.7863751_7863761dup, NC_000012.11:g.7863750_7863761dup, NC_000012.11:g.7863749_7863761dup, NC_000012.11:g.7863748_7863761dup, NC_000012.11:g.7863747_7863761dup, NC_000012.11:g.7863746_7863761dup, NC_000012.11:g.7863745_7863761dup, NC_000012.11:g.7863744_7863761dup, NC_000012.11:g.7863743_7863761dup, NC_000012.11:g.7863742_7863761dup, NC_000012.11:g.7863761_7863762insAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.7863741_7863761A[42]TAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000012.11:g.7863741_7863761A[27]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000012.11:g.7863741_7863761A[25]GAAAAAAACTGAAGAAAAAAAAAAAAAAAAAAAAAA[1]
6.
rs1490785035 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:7715585
(GRCh38)
12:7868181
(GRCh37)
- Canonical SPDI:
- NC_000012.12:7715584:C:T
- Gene:
- DPPA3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
8.
rs1490620170 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 12:7712081
(GRCh38)
12:7864677
(GRCh37)
- Canonical SPDI:
- NC_000012.12:7712080:T:A
- Gene:
- DPPA3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
A=0.00213/35
(GnomAD)
A=0.02022/303
(TOMMO)
- HGVS:
10.
rs1490581179 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 12:7710494
(GRCh38)
12:7863090
(GRCh37)
- Canonical SPDI:
- NC_000012.12:7710493:TTTT:TTT
- Gene:
- DPPA3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
11.
rs1490287938 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 12:7716128
(GRCh38)
12:7868724
(GRCh37)
- Canonical SPDI:
- NC_000012.12:7716127:T:G
- Gene:
- DPPA3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
12.
rs1489742048 has merged into rs142367308 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATTTTTATTTTT>-,ATTTTT,ATTTTTATTTTTATTTTT,ATTTTTATTTTTATTTTTATTTTT
[Show Flanks]
- Chromosome:
- 12:7712759
(GRCh38)
12:7865355
(GRCh37)
- Canonical SPDI:
- NC_000012.12:7712745:TATTTTTATTTTTATTTTTATTTTT:TATTTTTATTTTT,NC_000012.12:7712745:TATTTTTATTTTTATTTTTATTTTT:TATTTTTATTTTTATTTTT,NC_000012.12:7712745:TATTTTTATTTTTATTTTTATTTTT:TATTTTTATTTTTATTTTTATTTTTATTTTT,NC_000012.12:7712745:TATTTTTATTTTTATTTTTATTTTT:TATTTTTATTTTTATTTTTATTTTTATTTTTATTTTT
- Gene:
- DPPA3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATTTTTATTTTTATTTTTATTTTTATTTTT=0./0
(
ALFA)
-=0.21/126
(NorthernSweden)
-=0.22943/1149
(1000Genomes)
-=0.28179/1086
(ALSPAC)
-=0.28344/1051
(TWINSUK)
-=0.28557/285
(GoNL)
-=0.325/13
(GENOME_DK)
- HGVS:
13.
rs1489504263 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:7710512
(GRCh38)
12:7863108
(GRCh37)
- Canonical SPDI:
- NC_000012.12:7710511:T:C
- Gene:
- DPPA3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000132/2
(
ALFA)
C=0.000029/4
(GnomAD)
C=0.000446/2
(Estonian)
- HGVS:
14.
rs1489070826 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 12:7714258
(GRCh38)
12:7866854
(GRCh37)
- Canonical SPDI:
- NC_000012.12:7714257:A:C
- Gene:
- DPPA3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
C=0.000008/1
(GnomAD)
- HGVS:
15.
rs1488511201 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 12:7716094
(GRCh38)
12:7868690
(GRCh37)
- Canonical SPDI:
- NC_000012.12:7716093:C:A
- Gene:
- DPPA3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
16.
rs1487999614 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GAGGAGT>-
[Show Flanks]
- Chromosome:
- 12:7715348
(GRCh38)
12:7867944
(GRCh37)
- Canonical SPDI:
- NC_000012.12:7715347:GAGGAGT:
- Gene:
- DPPA3 (Varview)
- Functional Consequence:
- frameshift_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
-=0.000008/2
(GnomAD_exomes)
- HGVS:
17.
rs1487923220 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 12:7713308
(GRCh38)
12:7865904
(GRCh37)
- Canonical SPDI:
- NC_000012.12:7713307:G:A,NC_000012.12:7713307:G:T
- Gene:
- DPPA3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
18.
rs1487541584 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 12:7714506
(GRCh38)
12:7867102
(GRCh37)
- Canonical SPDI:
- NC_000012.12:7714505:C:G
- Gene:
- DPPA3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
19.
rs1487160131 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 12:7712298
(GRCh38)
12:7864894
(GRCh37)
- Canonical SPDI:
- NC_000012.12:7712297:T:A
- Gene:
- DPPA3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000036/5
(GnomAD)
- HGVS:
20.
rs1486553352 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 12:7714536
(GRCh38)
12:7867132
(GRCh37)
- Canonical SPDI:
- NC_000012.12:7714535:G:A,NC_000012.12:7714535:G:C
- Gene:
- DPPA3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000066/1
(
ALFA)
C=0.000004/1
(TOPMED)
A=0.000223/1
(Estonian)
- HGVS: