Links from Gene
Items: 1 to 20 of 1000
1.
rs1491535068 has merged into rs1206308709 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 16:89628270
(GRCh38)
16:89694678
(GRCh37)
- Canonical SPDI:
- NC_000016.10:89628256:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:89628256:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:89628256:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:89628256:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:89628256:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:89628256:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:89628256:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:89628256:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:89628256:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:89628256:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- DPEP1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTT=0./0
(
ALFA)
TT=0.000004/1
(TOPMED)
TTTTT=0.005076/2
(NorthernSweden)
- HGVS:
NC_000016.10:g.89628270_89628272del, NC_000016.10:g.89628271_89628272del, NC_000016.10:g.89628272del, NC_000016.10:g.89628272dup, NC_000016.10:g.89628271_89628272dup, NC_000016.10:g.89628270_89628272dup, NC_000016.10:g.89628269_89628272dup, NC_000016.10:g.89628268_89628272dup, NC_000016.10:g.89628265_89628272dup, NC_000016.10:g.89628263_89628272dup, NC_000016.9:g.89694678_89694680del, NC_000016.9:g.89694679_89694680del, NC_000016.9:g.89694680del, NC_000016.9:g.89694680dup, NC_000016.9:g.89694679_89694680dup, NC_000016.9:g.89694678_89694680dup, NC_000016.9:g.89694677_89694680dup, NC_000016.9:g.89694676_89694680dup, NC_000016.9:g.89694673_89694680dup, NC_000016.9:g.89694671_89694680dup
2.
rs1491461224 has merged into rs200936498 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-,CC
[Show Flanks]
- Chromosome:
- 16:89619124
(GRCh38)
16:89685532
(GRCh37)
- Canonical SPDI:
- NC_000016.10:89619123:CCCCCCC:CCCCCC,NC_000016.10:89619123:CCCCCCC:CCCCCCCC
- Gene:
- DPEP1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCCCCC=0./0
(
ALFA)
-=0.00596/33
(TOMMO)
- HGVS:
3.
rs1491452468 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,C,T
[Show Flanks]
- Chromosome:
- 16:89641227
(GRCh38)
16:89707636
(GRCh37)
- Canonical SPDI:
- NC_000016.10:89641227::A,NC_000016.10:89641227::C,NC_000016.10:89641227::T
- Gene:
- DPEP1 (Varview), LOC124903758 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
T=0.000064/17
(TOPMED)
- HGVS:
NC_000016.10:g.89641227_89641228insA, NC_000016.10:g.89641227_89641228insC, NC_000016.10:g.89641227_89641228insT, NC_000016.9:g.89707635_89707636insA, NC_000016.9:g.89707635_89707636insC, NC_000016.9:g.89707635_89707636insT, XM_047433691.1:c.*622_*623insA, XM_047433691.1:c.*622_*623insC, XM_047433691.1:c.*622_*623insT, NM_001389471.1:c.*622_*623insA, NM_001389471.1:c.*622_*623insC, NM_001389471.1:c.*622_*623insT, NM_001389470.1:c.*622_*623insA, NM_001389470.1:c.*622_*623insC, NM_001389470.1:c.*622_*623insT
4.
rs1491303686 has merged into rs3039849 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 16:89634100
(GRCh38)
16:89700508
(GRCh37)
- Canonical SPDI:
- NC_000016.10:89634091:TTTTTTTTTTTTTTTT:TTTTTTTT,NC_000016.10:89634091:TTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000016.10:89634091:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000016.10:89634091:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:89634091:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:89634091:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:89634091:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:89634091:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:89634091:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:89634091:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:89634091:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:89634091:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:89634091:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:89634091:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:89634091:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:89634091:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:89634091:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:89634091:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:89634091:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:89634091:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:89634091:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:89634091:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:89634091:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:89634091:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:89634091:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:89634091:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:89634091:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- DPEP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTT=0./0
(
ALFA)
-=0.04153/208
(1000Genomes)
- HGVS:
NC_000016.10:g.89634100_89634107del, NC_000016.10:g.89634101_89634107del, NC_000016.10:g.89634102_89634107del, NC_000016.10:g.89634103_89634107del, NC_000016.10:g.89634105_89634107del, NC_000016.10:g.89634106_89634107del, NC_000016.10:g.89634107del, NC_000016.10:g.89634107dup, NC_000016.10:g.89634106_89634107dup, NC_000016.10:g.89634105_89634107dup, NC_000016.10:g.89634104_89634107dup, NC_000016.10:g.89634103_89634107dup, NC_000016.10:g.89634102_89634107dup, NC_000016.10:g.89634101_89634107dup, NC_000016.10:g.89634100_89634107dup, NC_000016.10:g.89634099_89634107dup, NC_000016.10:g.89634098_89634107dup, NC_000016.10:g.89634097_89634107dup, NC_000016.10:g.89634096_89634107dup, NC_000016.10:g.89634095_89634107dup, NC_000016.10:g.89634107_89634108insTTTTTTTTTTTTTTTTT, NC_000016.10:g.89634107_89634108insTTTTTTTTTTTTTTTTTT, NC_000016.10:g.89634107_89634108insTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.89634107_89634108insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.89634107_89634108insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.89634107_89634108insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.89634107_89634108insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.89700508_89700515del, NC_000016.9:g.89700509_89700515del, NC_000016.9:g.89700510_89700515del, NC_000016.9:g.89700511_89700515del, NC_000016.9:g.89700513_89700515del, NC_000016.9:g.89700514_89700515del, NC_000016.9:g.89700515del, NC_000016.9:g.89700515dup, NC_000016.9:g.89700514_89700515dup, NC_000016.9:g.89700513_89700515dup, NC_000016.9:g.89700512_89700515dup, NC_000016.9:g.89700511_89700515dup, NC_000016.9:g.89700510_89700515dup, NC_000016.9:g.89700509_89700515dup, NC_000016.9:g.89700508_89700515dup, NC_000016.9:g.89700507_89700515dup, NC_000016.9:g.89700506_89700515dup, NC_000016.9:g.89700505_89700515dup, NC_000016.9:g.89700504_89700515dup, NC_000016.9:g.89700503_89700515dup, NC_000016.9:g.89700515_89700516insTTTTTTTTTTTTTTTTT, NC_000016.9:g.89700515_89700516insTTTTTTTTTTTTTTTTTT, NC_000016.9:g.89700515_89700516insTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.89700515_89700516insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.89700515_89700516insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.89700515_89700516insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.89700515_89700516insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
5.
rs1491219003 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CC>-,CCC
[Show Flanks]
- Chromosome:
- 16:89634908
(GRCh38)
16:89701316
(GRCh37)
- Canonical SPDI:
- NC_000016.10:89634906:CCC:C,NC_000016.10:89634906:CCC:CCCC
- Gene:
- DPEP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCC=0./0
(
ALFA)
-=0.00062/53
(GnomAD)
-=0.00774/128
(TOMMO)
-=0.00928/17
(Korea1K)
- HGVS:
7.
rs1491127213 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 16:89628256
(GRCh38)
16:89694664
(GRCh37)
- Canonical SPDI:
- NC_000016.10:89628254:TCT:T
- Gene:
- DPEP1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.00025/3
(
ALFA)
-=0.00004/1
(TOMMO)
-=0.00078/5
(1000Genomes)
-=0.00093/72
(GnomAD)
-=0.00438/8
(Korea1K)
- HGVS:
8.
rs1491018781 has merged into rs60768956 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GGG>-,G,GG,GGGG,GGGGG
[Show Flanks]
- Chromosome:
- 16:89611589
(GRCh38)
16:89677997
(GRCh37)
- Canonical SPDI:
- NC_000016.10:89611581:GGGGGGGGGG:GGGGGGG,NC_000016.10:89611581:GGGGGGGGGG:GGGGGGGG,NC_000016.10:89611581:GGGGGGGGGG:GGGGGGGGG,NC_000016.10:89611581:GGGGGGGGGG:GGGGGGGGGGG,NC_000016.10:89611581:GGGGGGGGGG:GGGGGGGGGGGG
- Gene:
- DPEP1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGGGGGGGG=0./0
(
ALFA)
G=0.0741/74
(GoNL)
G=0.075/3
(GENOME_DK)
G=0.0864/387
(Estonian)
G=0.0887/342
(ALSPAC)
G=0.0967/58
(NorthernSweden)
G=0.0982/364
(TWINSUK)
G=0.1941/971
(1000Genomes)
- HGVS:
9.
rs1490992802 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 16:89641594
(GRCh38)
16:89708003
(GRCh37)
- Canonical SPDI:
- NC_000016.10:89641594::A
- Gene:
- DPEP1 (Varview), LOC124903758 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
10.
rs1490960996 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:89623194
(GRCh38)
16:89689602
(GRCh37)
- Canonical SPDI:
- NC_000016.10:89623193:G:A
- Gene:
- DPEP1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
11.
rs1490838879 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 16:89618970
(GRCh38)
16:89685378
(GRCh37)
- Canonical SPDI:
- NC_000016.10:89618969:T:C,NC_000016.10:89618969:T:G
- Gene:
- DPEP1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.00015/2
(TOMMO)
G=0.24235/618
(KOREAN)
T=0.34322/81
(SGDP_PRJ)
- HGVS:
12.
rs1490835452 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 16:89612326
(GRCh38)
16:89678734
(GRCh37)
- Canonical SPDI:
- NC_000016.10:89612325:T:A
- Gene:
- DPEP1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
13.
rs1490807359 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 16:89634108
(GRCh38)
16:89700516
(GRCh37)
- Canonical SPDI:
- NC_000016.10:89634107:G:T
- Gene:
- DPEP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.00076/9
(
ALFA)
T=0.00211/31
(TOMMO)
T=0.13134/383
(KOREAN)
G=0.5/2
(SGDP_PRJ)
- HGVS:
14.
rs1490786391 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 16:89631473
(GRCh38)
16:89697881
(GRCh37)
- Canonical SPDI:
- NC_000016.10:89631472:T:C
- Gene:
- DPEP1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_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:
15.
rs1490776662 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 16:89628347
(GRCh38)
16:89694755
(GRCh37)
- Canonical SPDI:
- NC_000016.10:89628346:T:A
- Gene:
- DPEP1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
16.
rs1490750842 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 16:89627878
(GRCh38)
16:89694286
(GRCh37)
- Canonical SPDI:
- NC_000016.10:89627877:T:C
- Gene:
- DPEP1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000283/5
(TOMMO)
C=0.001092/2
(Korea1K)
- HGVS:
17.
rs1490650135 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:89619209
(GRCh38)
16:89685617
(GRCh37)
- Canonical SPDI:
- NC_000016.10:89619208:C:T
- Gene:
- DPEP1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.0333/395
(
ALFA)
C=0.05/1
(SGDP_PRJ)
T=0.16116/78
(KOREAN)
- HGVS:
18.
rs1490624843 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 16:89619147
(GRCh38)
16:89685556
(GRCh37)
- Canonical SPDI:
- NC_000016.10:89619147:CCCCC:CCCCCC
- Gene:
- DPEP1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
CCCCCC=0.00152/18
(
ALFA)
C=0.00205/2
(Korea1K)
- HGVS:
19.
rs1490513604 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:89612640
(GRCh38)
16:89679048
(GRCh37)
- Canonical SPDI:
- NC_000016.10:89612639:C:T
- Gene:
- DPEP1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
T=0.000177/3
(TOMMO)
- HGVS:
20.
rs1490434658 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:89621606
(GRCh38)
16:89688014
(GRCh37)
- Canonical SPDI:
- NC_000016.10:89621605:C:T
- Gene:
- DPEP1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
T=0.008333/5
(NorthernSweden)
- HGVS: