Links from Gene
Items: 1 to 20 of 1000
3.
rs1491568604 has merged into rs1196645006 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 15:75477844
(GRCh38)
15:75770185
(GRCh37)
- Canonical SPDI:
- NC_000015.10:75477833:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000015.10:75477833:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000015.10:75477833:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:75477833:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:75477833:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:75477833:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:75477833:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:75477833:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:75477833:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:75477833:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:75477833:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:75477833:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000015.10:75477833:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:75477833:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:75477833:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:75477833:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:75477833:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:75477833:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:75477833:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:75477833:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:75477833:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:75477833:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:75477833:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:75477833:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:75477833:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:75477833:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:75477833:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:75477833:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:75477833:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- PTPN9 (Varview), LOC105370902 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000015.10:g.75477844_75477858del, NC_000015.10:g.75477845_75477858del, NC_000015.10:g.75477846_75477858del, NC_000015.10:g.75477847_75477858del, NC_000015.10:g.75477848_75477858del, NC_000015.10:g.75477849_75477858del, NC_000015.10:g.75477850_75477858del, NC_000015.10:g.75477851_75477858del, NC_000015.10:g.75477852_75477858del, NC_000015.10:g.75477853_75477858del, NC_000015.10:g.75477854_75477858del, NC_000015.10:g.75477855_75477858del, NC_000015.10:g.75477856_75477858del, NC_000015.10:g.75477857_75477858del, NC_000015.10:g.75477858del, NC_000015.10:g.75477858dup, NC_000015.10:g.75477857_75477858dup, NC_000015.10:g.75477856_75477858dup, NC_000015.10:g.75477855_75477858dup, NC_000015.10:g.75477854_75477858dup, NC_000015.10:g.75477853_75477858dup, NC_000015.10:g.75477852_75477858dup, NC_000015.10:g.75477851_75477858dup, NC_000015.10:g.75477850_75477858dup, NC_000015.10:g.75477849_75477858dup, NC_000015.10:g.75477848_75477858dup, NC_000015.10:g.75477847_75477858dup, NC_000015.10:g.75477858_75477859insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.75477858_75477859insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.75770185_75770199del, NC_000015.9:g.75770186_75770199del, NC_000015.9:g.75770187_75770199del, NC_000015.9:g.75770188_75770199del, NC_000015.9:g.75770189_75770199del, NC_000015.9:g.75770190_75770199del, NC_000015.9:g.75770191_75770199del, NC_000015.9:g.75770192_75770199del, NC_000015.9:g.75770193_75770199del, NC_000015.9:g.75770194_75770199del, NC_000015.9:g.75770195_75770199del, NC_000015.9:g.75770196_75770199del, NC_000015.9:g.75770197_75770199del, NC_000015.9:g.75770198_75770199del, NC_000015.9:g.75770199del, NC_000015.9:g.75770199dup, NC_000015.9:g.75770198_75770199dup, NC_000015.9:g.75770197_75770199dup, NC_000015.9:g.75770196_75770199dup, NC_000015.9:g.75770195_75770199dup, NC_000015.9:g.75770194_75770199dup, NC_000015.9:g.75770193_75770199dup, NC_000015.9:g.75770192_75770199dup, NC_000015.9:g.75770191_75770199dup, NC_000015.9:g.75770190_75770199dup, NC_000015.9:g.75770189_75770199dup, NC_000015.9:g.75770188_75770199dup, NC_000015.9:g.75770199_75770200insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.75770199_75770200insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
6.
rs1491534869 has merged into rs1207870145 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-,TATA
[Show Flanks]
- Chromosome:
- 15:75530742
(GRCh38)
15:75823083
(GRCh37)
- Canonical SPDI:
- NC_000015.10:75530737:TATATA:TATA,NC_000015.10:75530737:TATATA:TATATATA
- Gene:
- PTPN9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TATATATA=0./0
(
ALFA)
-=0.0001/3
(GnomAD)
- HGVS:
7.
rs1491519417 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ATA
[Show Flanks]
- Chromosome:
- 15:75530712
(GRCh38)
15:75823054
(GRCh37)
- Canonical SPDI:
- NC_000015.10:75530712:ATA:ATAATA
- Gene:
- PTPN9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATAATA=0./0
(
ALFA)
ATA=0.00151/26
(GnomAD)
- HGVS:
10.
rs1491464409 has merged into rs34339660 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-,GTGT
[Show Flanks]
- Chromosome:
- 15:75520492
(GRCh38)
15:75812833
(GRCh37)
- Canonical SPDI:
- NC_000015.10:75520482:TGTGTGTGTGT:TGTGTGTGT,NC_000015.10:75520482:TGTGTGTGTGT:TGTGTGTGTGTGT
- Gene:
- PTPN9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGT=0.000214/3
(
ALFA)
-=0.000079/21
(TOPMED)
-=0.001345/96
(GnomAD)
- HGVS:
12.
rs1491446039 has merged into rs35248279 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA
[Show Flanks]
- Chromosome:
- 15:75500358
(GRCh38)
15:75792699
(GRCh37)
- Canonical SPDI:
- NC_000015.10:75500344:ACACACACACACACACACACACACACA:ACACACACACACA,NC_000015.10:75500344:ACACACACACACACACACACACACACA:ACACACACACACACA,NC_000015.10:75500344:ACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000015.10:75500344:ACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000015.10:75500344:ACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000015.10:75500344:ACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000015.10:75500344:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000015.10:75500344:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000015.10:75500344:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000015.10:75500344:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000015.10:75500344:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000015.10:75500344:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA
- Gene:
- PTPN9 (Varview), LOC105370902 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACA=0./0
(
ALFA)
- HGVS:
NC_000015.10:g.75500346CA[6], NC_000015.10:g.75500346CA[7], NC_000015.10:g.75500346CA[8], NC_000015.10:g.75500346CA[9], NC_000015.10:g.75500346CA[10], NC_000015.10:g.75500346CA[11], NC_000015.10:g.75500346CA[12], NC_000015.10:g.75500346CA[14], NC_000015.10:g.75500346CA[15], NC_000015.10:g.75500346CA[16], NC_000015.10:g.75500346CA[17], NC_000015.10:g.75500346CA[18], NC_000015.9:g.75792687CA[6], NC_000015.9:g.75792687CA[7], NC_000015.9:g.75792687CA[8], NC_000015.9:g.75792687CA[9], NC_000015.9:g.75792687CA[10], NC_000015.9:g.75792687CA[11], NC_000015.9:g.75792687CA[12], NC_000015.9:g.75792687CA[14], NC_000015.9:g.75792687CA[15], NC_000015.9:g.75792687CA[16], NC_000015.9:g.75792687CA[17], NC_000015.9:g.75792687CA[18]
13.
rs1491441135 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 15:75544810
(GRCh38)
15:75837151
(GRCh37)
- Canonical SPDI:
- NC_000015.10:75544809:AT:
- Gene:
- PTPN9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
-=0.000007/1
(GnomAD)
- HGVS:
14.
rs1491387111 has merged into rs1420968374 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-,TATA
[Show Flanks]
- Chromosome:
- 15:75500344
(GRCh38)
15:75792685
(GRCh37)
- Canonical SPDI:
- NC_000015.10:75500342:ATA:A,NC_000015.10:75500342:ATA:ATATA
- Gene:
- PTPN9 (Varview), LOC105370902 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATA=0./0
(
ALFA)
AT=0.00016/1
(1000Genomes)
-=0.07228/268
(TWINSUK)
-=0.07421/286
(ALSPAC)
- HGVS:
15.
rs1491379888 has merged into rs10699634 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 15:75524787
(GRCh38)
15:75817128
(GRCh37)
- Canonical SPDI:
- NC_000015.10:75524777:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000015.10:75524777:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:75524777:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:75524777:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:75524777:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:75524777:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:75524777:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:75524777:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:75524777:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:75524777:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:75524777:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:75524777:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:75524777:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:75524777:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:75524777:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:75524777:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:75524777:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:75524777:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:75524777:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:75524777:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:75524777:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:75524777:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:75524777:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:75524777:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:75524777:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:75524777:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:75524777:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:75524777:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:75524777:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:75524777:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- PTPN9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0./0
(
ALFA)
AAAAAAAAAAA=0.2382/1193
(1000Genomes)
- HGVS:
NC_000015.10:g.75524787_75524801del, NC_000015.10:g.75524789_75524801del, NC_000015.10:g.75524790_75524801del, NC_000015.10:g.75524791_75524801del, NC_000015.10:g.75524792_75524801del, NC_000015.10:g.75524793_75524801del, NC_000015.10:g.75524794_75524801del, NC_000015.10:g.75524795_75524801del, NC_000015.10:g.75524796_75524801del, NC_000015.10:g.75524797_75524801del, NC_000015.10:g.75524798_75524801del, NC_000015.10:g.75524799_75524801del, NC_000015.10:g.75524800_75524801del, NC_000015.10:g.75524801del, NC_000015.10:g.75524801dup, NC_000015.10:g.75524800_75524801dup, NC_000015.10:g.75524799_75524801dup, NC_000015.10:g.75524798_75524801dup, NC_000015.10:g.75524797_75524801dup, NC_000015.10:g.75524796_75524801dup, NC_000015.10:g.75524795_75524801dup, NC_000015.10:g.75524794_75524801dup, NC_000015.10:g.75524793_75524801dup, NC_000015.10:g.75524792_75524801dup, NC_000015.10:g.75524791_75524801dup, NC_000015.10:g.75524783_75524801dup, NC_000015.10:g.75524778_75524801dup, NC_000015.10:g.75524801_75524802insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.75524801_75524802insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.75524801_75524802insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.75817128_75817142del, NC_000015.9:g.75817130_75817142del, NC_000015.9:g.75817131_75817142del, NC_000015.9:g.75817132_75817142del, NC_000015.9:g.75817133_75817142del, NC_000015.9:g.75817134_75817142del, NC_000015.9:g.75817135_75817142del, NC_000015.9:g.75817136_75817142del, NC_000015.9:g.75817137_75817142del, NC_000015.9:g.75817138_75817142del, NC_000015.9:g.75817139_75817142del, NC_000015.9:g.75817140_75817142del, NC_000015.9:g.75817141_75817142del, NC_000015.9:g.75817142del, NC_000015.9:g.75817142dup, NC_000015.9:g.75817141_75817142dup, NC_000015.9:g.75817140_75817142dup, NC_000015.9:g.75817139_75817142dup, NC_000015.9:g.75817138_75817142dup, NC_000015.9:g.75817137_75817142dup, NC_000015.9:g.75817136_75817142dup, NC_000015.9:g.75817135_75817142dup, NC_000015.9:g.75817134_75817142dup, NC_000015.9:g.75817133_75817142dup, NC_000015.9:g.75817132_75817142dup, NC_000015.9:g.75817124_75817142dup, NC_000015.9:g.75817119_75817142dup, NC_000015.9:g.75817142_75817143insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.75817142_75817143insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.75817142_75817143insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
16.
rs1491375428 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 15:75537443
(GRCh38)
15:75829784
(GRCh37)
- Canonical SPDI:
- NC_000015.10:75537442:TA:
- Gene:
- PTPN9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00002/1
(GnomAD)
- HGVS:
17.
rs1491367024 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 15:75481382
(GRCh38)
15:75773723
(GRCh37)
- Canonical SPDI:
- NC_000015.10:75481380:GAG:G
- Gene:
- PTPN9 (Varview), LOC105370902 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.00497/59
(
ALFA)
-=0.01396/23
(TOMMO)
-=0.02469/8
(Korea1K)
- HGVS:
18.
rs1491294638 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 15:75530716
(GRCh38)
15:75823057
(GRCh37)
- Canonical SPDI:
- NC_000015.10:75530711:TATATA:TATA
- Gene:
- PTPN9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TATA=0./0
(
ALFA)
-=0.00014/4
(GnomAD)
- HGVS:
19.
rs1491282943 has merged into rs1314961729 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAA>-,A,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 15:75537361
(GRCh38)
15:75829702
(GRCh37)
- Canonical SPDI:
- NC_000015.10:75537351:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000015.10:75537351:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:75537351:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:75537351:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:75537351:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:75537351:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:75537351:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:75537351:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:75537351:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:75537351:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:75537351:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:75537351:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- PTPN9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
NC_000015.10:g.75537361_75537372del, NC_000015.10:g.75537362_75537372del, NC_000015.10:g.75537365_75537372del, NC_000015.10:g.75537366_75537372del, NC_000015.10:g.75537367_75537372del, NC_000015.10:g.75537368_75537372del, NC_000015.10:g.75537369_75537372del, NC_000015.10:g.75537371_75537372del, NC_000015.10:g.75537372del, NC_000015.10:g.75537372dup, NC_000015.10:g.75537371_75537372dup, NC_000015.10:g.75537370_75537372dup, NC_000015.9:g.75829702_75829713del, NC_000015.9:g.75829703_75829713del, NC_000015.9:g.75829706_75829713del, NC_000015.9:g.75829707_75829713del, NC_000015.9:g.75829708_75829713del, NC_000015.9:g.75829709_75829713del, NC_000015.9:g.75829710_75829713del, NC_000015.9:g.75829712_75829713del, NC_000015.9:g.75829713del, NC_000015.9:g.75829713dup, NC_000015.9:g.75829712_75829713dup, NC_000015.9:g.75829711_75829713dup