Links from Gene
Items: 1 to 20 of 1000
1.
rs1491581738 has merged into rs34176259 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-,TT,TTT
[Show Flanks]
- Chromosome:
- 16:69774048
(GRCh38)
16:69807951
(GRCh37)
- Canonical SPDI:
- NC_000016.10:69774047:TTTTTTTTT:TTTTTTTT,NC_000016.10:69774047:TTTTTTTTT:TTTTTTTTTT,NC_000016.10:69774047:TTTTTTTTT:TTTTTTTTTTT
- Gene:
- WWP2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTT=0.02478/318
(
ALFA)
-=0.11299/207
(Korea1K)
-=0.11641/557
(1000Genomes)
- HGVS:
NC_000016.10:g.69774056del, NC_000016.10:g.69774056dup, NC_000016.10:g.69774055_69774056dup, NC_000016.9:g.69807959del, NC_000016.9:g.69807959dup, NC_000016.9:g.69807958_69807959dup, XM_047433520.1:c.-1261del, XM_047433520.1:c.-1261dup, XM_047433520.1:c.-1262_-1261dup, XM_047433522.1:c.-1140del, XM_047433522.1:c.-1140dup, XM_047433522.1:c.-1141_-1140dup
3.
rs1491566322 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TATAGGTGGTGCTTGCCTATAATCC,TATAGGTGGTGCTTGCCTATAATCCCAGCTACTCG,TATAGGTGGTGCTTGCCTATAATCCCAGCTACTCGCGAGGCTGAGGAAGGAGAATCGCTTGAACCTGGGAGG,TATAGGTGGTGCTTGCCTATAATCCCAGCTACTCGCGAGGCTGAGGAAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAACTGAGATCACA,TATAGGTGGTGCTTGCCTATAATCCCAGCTACTCGCGAGGCTGAGGAAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAACTGAGATCACACCATTG,TATAGGTGGTGCTTGCCTATAATCCCAGCTACTCGCGAGGCTGAGGAAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAACTGAGATCACACCATTGCA,TATAGGTGGTGCTTGCCTATAATCCCAGCTACTCGCGAGGCTGAGGAAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAACTGAGATCACACCATTGCACTCCAG
[Show Flanks]
- Chromosome:
- 16:69912912
(GRCh38)
16:69946816
(GRCh37)
- Canonical SPDI:
- NC_000016.10:69912912::TATAGGTGGTGCTTGCCTATAATCC,NC_000016.10:69912912::TATAGGTGGTGCTTGCCTATAATCCCAGCTACTCG,NC_000016.10:69912912::TATAGGTGGTGCTTGCCTATAATCCCAGCTACTCGCGAGGCTGAGGAAGGAGAATCGCTTGAACCTGGGAGG,NC_000016.10:69912912::TATAGGTGGTGCTTGCCTATAATCCCAGCTACTCGCGAGGCTGAGGAAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAACTGAGATCACA,NC_000016.10:69912912::TATAGGTGGTGCTTGCCTATAATCCCAGCTACTCGCGAGGCTGAGGAAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAACTGAGATCACACCATTG,NC_000016.10:69912912::TATAGGTGGTGCTTGCCTATAATCCCAGCTACTCGCGAGGCTGAGGAAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAACTGAGATCACACCATTGCA,NC_000016.10:69912912::TATAGGTGGTGCTTGCCTATAATCCCAGCTACTCGCGAGGCTGAGGAAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAACTGAGATCACACCATTGCACTCCAG
- Gene:
- WWP2 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by cluster
- HGVS:
NC_000016.10:g.69912912_69912913insTATAGGTGGTGCTTGCCTATAATCC, NC_000016.10:g.69912912_69912913insTATAGGTGGTGCTTGCCTATAATCCCAGCTACTCG, NC_000016.10:g.69912912_69912913insTATAGGTGGTGCTTGCCTATAATCCCAGCTACTCGCGAGGCTGAGGAAGGAGAATCGCTTGAACCTGGGAGG, NC_000016.10:g.69912912_69912913insTATAGGTGGTGCTTGCCTATAATCCCAGCTACTCGCGAGGCTGAGGAAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAACTGAGATCACA, NC_000016.10:g.69912912_69912913insTATAGGTGGTGCTTGCCTATAATCCCAGCTACTCGCGAGGCTGAGGAAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAACTGAGATCACACCATTG, NC_000016.10:g.69912912_69912913insTATAGGTGGTGCTTGCCTATAATCCCAGCTACTCGCGAGGCTGAGGAAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAACTGAGATCACACCATTGCA, NC_000016.10:g.69912912_69912913insTATAGGTGGTGCTTGCCTATAATCCCAGCTACTCGCGAGGCTGAGGAAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAACTGAGATCACACCATTGCACTCCAG, NC_000016.9:g.69946815_69946816insTATAGGTGGTGCTTGCCTATAATCC, NC_000016.9:g.69946815_69946816insTATAGGTGGTGCTTGCCTATAATCCCAGCTACTCG, NC_000016.9:g.69946815_69946816insTATAGGTGGTGCTTGCCTATAATCCCAGCTACTCGCGAGGCTGAGGAAGGAGAATCGCTTGAACCTGGGAGG, NC_000016.9:g.69946815_69946816insTATAGGTGGTGCTTGCCTATAATCCCAGCTACTCGCGAGGCTGAGGAAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAACTGAGATCACA, NC_000016.9:g.69946815_69946816insTATAGGTGGTGCTTGCCTATAATCCCAGCTACTCGCGAGGCTGAGGAAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAACTGAGATCACACCATTG, NC_000016.9:g.69946815_69946816insTATAGGTGGTGCTTGCCTATAATCCCAGCTACTCGCGAGGCTGAGGAAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAACTGAGATCACACCATTGCA, NC_000016.9:g.69946815_69946816insTATAGGTGGTGCTTGCCTATAATCCCAGCTACTCGCGAGGCTGAGGAAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAACTGAGATCACACCATTGCACTCCAG
4.
rs1491535355 has merged into rs71151139 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 16:69826279
(GRCh38)
16:69860182
(GRCh37)
- Canonical SPDI:
- NC_000016.10:69826267:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:69826267:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:69826267:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:69826267:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:69826267:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:69826267:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:69826267:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:69826267:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
- Gene:
- WWP2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
A=0.0372/138
(TWINSUK)
A=0.0426/164
(ALSPAC)
A=0.2428/1216
(1000Genomes)
- HGVS:
NC_000016.10:g.69826279_69826282del, NC_000016.10:g.69826280_69826282del, NC_000016.10:g.69826281_69826282del, NC_000016.10:g.69826282del, NC_000016.10:g.69826282dup, NC_000016.10:g.69826281_69826282dup, NC_000016.10:g.69826279_69826282dup, NC_000016.10:g.69826276_69826282dup, NC_000016.9:g.69860182_69860185del, NC_000016.9:g.69860183_69860185del, NC_000016.9:g.69860184_69860185del, NC_000016.9:g.69860185del, NC_000016.9:g.69860185dup, NC_000016.9:g.69860184_69860185dup, NC_000016.9:g.69860182_69860185dup, NC_000016.9:g.69860179_69860185dup
5.
rs1491521075 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 16:69849486
(GRCh38)
16:69883389
(GRCh37)
- Canonical SPDI:
- NC_000016.10:69849485:CA:
- Gene:
- WWP2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.005921/823
(GnomAD)
- HGVS:
7.
rs1491490261 has merged into rs34176259 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-,TT,TTT
[Show Flanks]
- Chromosome:
- 16:69774048
(GRCh38)
16:69807951
(GRCh37)
- Canonical SPDI:
- NC_000016.10:69774047:TTTTTTTTT:TTTTTTTT,NC_000016.10:69774047:TTTTTTTTT:TTTTTTTTTT,NC_000016.10:69774047:TTTTTTTTT:TTTTTTTTTTT
- Gene:
- WWP2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTT=0.02478/318
(
ALFA)
-=0.11299/207
(Korea1K)
-=0.11641/557
(1000Genomes)
- HGVS:
NC_000016.10:g.69774056del, NC_000016.10:g.69774056dup, NC_000016.10:g.69774055_69774056dup, NC_000016.9:g.69807959del, NC_000016.9:g.69807959dup, NC_000016.9:g.69807958_69807959dup, XM_047433520.1:c.-1261del, XM_047433520.1:c.-1261dup, XM_047433520.1:c.-1262_-1261dup, XM_047433522.1:c.-1140del, XM_047433522.1:c.-1140dup, XM_047433522.1:c.-1141_-1140dup
8.
rs1491468115 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 16:69769316
(GRCh38)
16:69803219
(GRCh37)
- Canonical SPDI:
- NC_000016.10:69769315:CA:
- Gene:
- WWP2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00004/1
(TOMMO)
- HGVS:
9.
rs1491462566 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 16:69912915
(GRCh38)
16:69946818
(GRCh37)
- Canonical SPDI:
- NC_000016.10:69912911:TCTCT:TCT
- Gene:
- WWP2 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TCT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
11.
rs1491445435 has merged into rs201294551 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 16:69813176
(GRCh38)
16:69847079
(GRCh37)
- Canonical SPDI:
- NC_000016.10:69813161:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:69813161:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:69813161:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:69813161:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:69813161:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:69813161:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:69813161:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:69813161:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:69813161:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT
- Gene:
- WWP2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000016.10:g.69813176_69813179del, NC_000016.10:g.69813177_69813179del, NC_000016.10:g.69813178_69813179del, NC_000016.10:g.69813179del, NC_000016.10:g.69813179dup, NC_000016.10:g.69813178_69813179dup, NC_000016.10:g.69813177_69813179dup, NC_000016.10:g.69813176_69813179dup, NC_000016.10:g.69813162_69813179T[26]GTTTTTTTTTTTTTTTTTTTT[1], NC_000016.9:g.69847079_69847082del, NC_000016.9:g.69847080_69847082del, NC_000016.9:g.69847081_69847082del, NC_000016.9:g.69847082del, NC_000016.9:g.69847082dup, NC_000016.9:g.69847081_69847082dup, NC_000016.9:g.69847080_69847082dup, NC_000016.9:g.69847079_69847082dup, NC_000016.9:g.69847065_69847082T[26]GTTTTTTTTTTTTTTTTTTTT[1]
12.
rs1491444669 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 16:69795295
(GRCh38)
16:69829198
(GRCh37)
- Canonical SPDI:
- NC_000016.10:69795293:ATA:A
- Gene:
- WWP2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000253/3
(
ALFA)
-=0.00057/78
(GnomAD)
-=0.000781/5
(1000Genomes)
- HGVS:
13.
rs1491444333 has merged into rs113061460 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-,TT,TTT
[Show Flanks]
- Chromosome:
- 16:69879994
(GRCh38)
16:69913897
(GRCh37)
- Canonical SPDI:
- NC_000016.10:69879993:TTTTTTTTTT:TTTTTTTTT,NC_000016.10:69879993:TTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:69879993:TTTTTTTTTT:TTTTTTTTTTTT
- Gene:
- WWP2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
-=0.00315/53
(TOMMO)
-=0.00546/10
(Korea1K)
-=0.04288/192
(Estonian)
-=0.05/30
(NorthernSweden)
-=0.05631/282
(1000Genomes)
-=0.07343/283
(ALSPAC)
-=0.0801/297
(TWINSUK)
-=0.1/4
(GENOME_DK)
- HGVS:
14.
rs1491428434 has merged into rs386384998 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 16:69795662
(GRCh38)
16:69829565
(GRCh37)
- Canonical SPDI:
- NC_000016.10:69795649:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:69795649:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:69795649:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:69795649:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:69795649:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:69795649:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:69795649:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:69795649:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:69795649:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:69795649:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:69795649:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:69795649:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:69795649:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:69795649:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:69795649:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:69795649:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:69795649:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:69795649:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:69795649:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:69795649:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:69795649:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:69795649:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:69795649:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:69795649:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:69795649:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:69795649:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:69795649:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:69795649:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:69795649:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:69795649:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- WWP2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000016.10:g.69795662_69795675del, NC_000016.10:g.69795663_69795675del, NC_000016.10:g.69795664_69795675del, NC_000016.10:g.69795665_69795675del, NC_000016.10:g.69795666_69795675del, NC_000016.10:g.69795667_69795675del, NC_000016.10:g.69795668_69795675del, NC_000016.10:g.69795669_69795675del, NC_000016.10:g.69795670_69795675del, NC_000016.10:g.69795671_69795675del, NC_000016.10:g.69795672_69795675del, NC_000016.10:g.69795674_69795675del, NC_000016.10:g.69795675del, NC_000016.10:g.69795675dup, NC_000016.10:g.69795674_69795675dup, NC_000016.10:g.69795673_69795675dup, NC_000016.10:g.69795672_69795675dup, NC_000016.10:g.69795671_69795675dup, NC_000016.10:g.69795670_69795675dup, NC_000016.10:g.69795669_69795675dup, NC_000016.10:g.69795668_69795675dup, NC_000016.10:g.69795667_69795675dup, NC_000016.10:g.69795666_69795675dup, NC_000016.10:g.69795665_69795675dup, NC_000016.10:g.69795664_69795675dup, NC_000016.10:g.69795663_69795675dup, NC_000016.10:g.69795662_69795675dup, NC_000016.10:g.69795661_69795675dup, NC_000016.10:g.69795660_69795675dup, NC_000016.10:g.69795675_69795676insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.69829565_69829578del, NC_000016.9:g.69829566_69829578del, NC_000016.9:g.69829567_69829578del, NC_000016.9:g.69829568_69829578del, NC_000016.9:g.69829569_69829578del, NC_000016.9:g.69829570_69829578del, NC_000016.9:g.69829571_69829578del, NC_000016.9:g.69829572_69829578del, NC_000016.9:g.69829573_69829578del, NC_000016.9:g.69829574_69829578del, NC_000016.9:g.69829575_69829578del, NC_000016.9:g.69829577_69829578del, NC_000016.9:g.69829578del, NC_000016.9:g.69829578dup, NC_000016.9:g.69829577_69829578dup, NC_000016.9:g.69829576_69829578dup, NC_000016.9:g.69829575_69829578dup, NC_000016.9:g.69829574_69829578dup, NC_000016.9:g.69829573_69829578dup, NC_000016.9:g.69829572_69829578dup, NC_000016.9:g.69829571_69829578dup, NC_000016.9:g.69829570_69829578dup, NC_000016.9:g.69829569_69829578dup, NC_000016.9:g.69829568_69829578dup, NC_000016.9:g.69829567_69829578dup, NC_000016.9:g.69829566_69829578dup, NC_000016.9:g.69829565_69829578dup, NC_000016.9:g.69829564_69829578dup, NC_000016.9:g.69829563_69829578dup, NC_000016.9:g.69829578_69829579insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
16.
rs1491360077 has merged into rs57651000 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 16:69778202
(GRCh38)
16:69812105
(GRCh37)
- Canonical SPDI:
- NC_000016.10:69778192:TTTTTTTTTTTTT:TTTTTTTTT,NC_000016.10:69778192:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000016.10:69778192:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:69778192:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:69778192:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:69778192:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:69778192:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:69778192:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:69778192:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:69778192:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
- Gene:
- WWP2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTT=0./0
(
ALFA)
-=0.125/1
(KOREAN)
- HGVS:
NC_000016.10:g.69778202_69778205del, NC_000016.10:g.69778203_69778205del, NC_000016.10:g.69778204_69778205del, NC_000016.10:g.69778205del, NC_000016.10:g.69778205dup, NC_000016.10:g.69778204_69778205dup, NC_000016.10:g.69778203_69778205dup, NC_000016.10:g.69778202_69778205dup, NC_000016.10:g.69778201_69778205dup, NC_000016.10:g.69778199_69778205dup, NC_000016.9:g.69812105_69812108del, NC_000016.9:g.69812106_69812108del, NC_000016.9:g.69812107_69812108del, NC_000016.9:g.69812108del, NC_000016.9:g.69812108dup, NC_000016.9:g.69812107_69812108dup, NC_000016.9:g.69812106_69812108dup, NC_000016.9:g.69812105_69812108dup, NC_000016.9:g.69812104_69812108dup, NC_000016.9:g.69812102_69812108dup
17.
rs1491356028 has merged into rs57201672 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 16:69846059
(GRCh38)
16:69879962
(GRCh37)
- Canonical SPDI:
- NC_000016.10:69846049:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000016.10:69846049:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:69846049:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:69846049:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:69846049:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:69846049:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:69846049:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:69846049:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:69846049:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:69846049:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:69846049:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:69846049:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69846049:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69846049:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69846049:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69846049:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69846049:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69846049:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69846049:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69846049:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69846049:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69846049:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69846049:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69846049:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69846049:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69846049:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69846049:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69846049:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69846049:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69846049:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69846049:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69846049:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69846049:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69846049:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69846049:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69846049:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69846049:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69846049:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69846049:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69846049:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69846049:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69846049:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69846049:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69846049:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- WWP2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0./0
(
ALFA)
-=0./0
(GENOME_DK)
-=0.0377/189
(1000Genomes)
- HGVS:
NC_000016.10:g.69846059_69846070del, NC_000016.10:g.69846061_69846070del, NC_000016.10:g.69846062_69846070del, NC_000016.10:g.69846063_69846070del, NC_000016.10:g.69846064_69846070del, NC_000016.10:g.69846065_69846070del, NC_000016.10:g.69846066_69846070del, NC_000016.10:g.69846067_69846070del, NC_000016.10:g.69846068_69846070del, NC_000016.10:g.69846069_69846070del, NC_000016.10:g.69846070del, NC_000016.10:g.69846070dup, NC_000016.10:g.69846069_69846070dup, NC_000016.10:g.69846068_69846070dup, NC_000016.10:g.69846067_69846070dup, NC_000016.10:g.69846066_69846070dup, NC_000016.10:g.69846065_69846070dup, NC_000016.10:g.69846064_69846070dup, NC_000016.10:g.69846063_69846070dup, NC_000016.10:g.69846062_69846070dup, NC_000016.10:g.69846061_69846070dup, NC_000016.10:g.69846060_69846070dup, NC_000016.10:g.69846059_69846070dup, NC_000016.10:g.69846058_69846070dup, NC_000016.10:g.69846057_69846070dup, NC_000016.10:g.69846056_69846070dup, NC_000016.10:g.69846055_69846070dup, NC_000016.10:g.69846054_69846070dup, NC_000016.10:g.69846053_69846070dup, NC_000016.10:g.69846052_69846070dup, NC_000016.10:g.69846051_69846070dup, NC_000016.10:g.69846050_69846070dup, NC_000016.10:g.69846070_69846071insAAAAAAAAAAAAAAAAAAAAAA, NC_000016.10:g.69846070_69846071insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.10:g.69846070_69846071insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.10:g.69846070_69846071insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.10:g.69846070_69846071insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.10:g.69846070_69846071insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.10:g.69846070_69846071insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.10:g.69846070_69846071insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.10:g.69846070_69846071insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.10:g.69846070_69846071insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.10:g.69846070_69846071insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.10:g.69846050_69846070A[26]CAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.9:g.69879962_69879973del, NC_000016.9:g.69879964_69879973del, NC_000016.9:g.69879965_69879973del, NC_000016.9:g.69879966_69879973del, NC_000016.9:g.69879967_69879973del, NC_000016.9:g.69879968_69879973del, NC_000016.9:g.69879969_69879973del, NC_000016.9:g.69879970_69879973del, NC_000016.9:g.69879971_69879973del, NC_000016.9:g.69879972_69879973del, NC_000016.9:g.69879973del, NC_000016.9:g.69879973dup, NC_000016.9:g.69879972_69879973dup, NC_000016.9:g.69879971_69879973dup, NC_000016.9:g.69879970_69879973dup, NC_000016.9:g.69879969_69879973dup, NC_000016.9:g.69879968_69879973dup, NC_000016.9:g.69879967_69879973dup, NC_000016.9:g.69879966_69879973dup, NC_000016.9:g.69879965_69879973dup, NC_000016.9:g.69879964_69879973dup, NC_000016.9:g.69879963_69879973dup, NC_000016.9:g.69879962_69879973dup, NC_000016.9:g.69879961_69879973dup, NC_000016.9:g.69879960_69879973dup, NC_000016.9:g.69879959_69879973dup, NC_000016.9:g.69879958_69879973dup, NC_000016.9:g.69879957_69879973dup, NC_000016.9:g.69879956_69879973dup, NC_000016.9:g.69879955_69879973dup, NC_000016.9:g.69879954_69879973dup, NC_000016.9:g.69879953_69879973dup, NC_000016.9:g.69879973_69879974insAAAAAAAAAAAAAAAAAAAAAA, NC_000016.9:g.69879973_69879974insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.9:g.69879973_69879974insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.9:g.69879973_69879974insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.9:g.69879973_69879974insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.9:g.69879973_69879974insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.9:g.69879973_69879974insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.9:g.69879973_69879974insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.9:g.69879973_69879974insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.9:g.69879973_69879974insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.9:g.69879973_69879974insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.9:g.69879953_69879973A[26]CAAAAAAAAAAAAAAAAAAAAAA[1]
18.
rs1491351994 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->ACCA
[Show Flanks]
- Chromosome:
- 16:69894108
(GRCh38)
16:69928012
(GRCh37)
- Canonical SPDI:
- NC_000016.10:69894108::ACCA
- Gene:
- WWP2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
ACCA=0.000029/4
(GnomAD)
- HGVS:
19.
rs1491338417 has merged into rs57953452 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT
[Show Flanks]
- Chromosome:
- 16:69876367
(GRCh38)
16:69910270
(GRCh37)
- Canonical SPDI:
- NC_000016.10:69876354:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:69876354:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:69876354:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:69876354:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
- Gene:
- WWP2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0.00286/40
(
ALFA)
-=0.045/27
(NorthernSweden)
- HGVS:
20.
rs1491326781 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 16:69831827
(GRCh38)
16:69865730
(GRCh37)
- Canonical SPDI:
- NC_000016.10:69831826:CT:
- Gene:
- WWP2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000062/1
(
ALFA)
-=0.000141/19
(GnomAD)
- HGVS: