Links from Gene
Items: 1 to 20 of 1000
1.
rs1491530529 has merged into rs1164023098 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TATATA>-,TA,TATA,TATATATA
[Show Flanks]
- Chromosome:
- 15:73580427
(GRCh38)
15:73872768
(GRCh37)
- Canonical SPDI:
- NC_000015.10:73580421:ATATATATATA:ATATA,NC_000015.10:73580421:ATATATATATA:ATATATA,NC_000015.10:73580421:ATATATATATA:ATATATATA,NC_000015.10:73580421:ATATATATATA:ATATATATATATA
- Gene:
- NPTN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATA=0./0
(
ALFA)
-=0.00135/22
(TOMMO)
-=0.00296/5
(Korea1K)
- HGVS:
2.
rs1491512232 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 15:73580421
(GRCh38)
15:73872762
(GRCh37)
- Canonical SPDI:
- NC_000015.10:73580420:AA:
- Gene:
- NPTN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000077/8
(GnomAD)
- HGVS:
3.
rs1491508158 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 15:73607546
(GRCh38)
15:73899888
(GRCh37)
- Canonical SPDI:
- NC_000015.10:73607546:TTTTTTT:TTTTTTTT
- Gene:
- NPTN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTT=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
4.
rs1491496787 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 15:73580597
(GRCh38)
15:73872939
(GRCh37)
- Canonical SPDI:
- NC_000015.10:73580597:A:AA
- Gene:
- NPTN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
A=0.000038/10
(TOPMED)
A=0.000039/4
(GnomAD)
- HGVS:
5.
rs1491494217 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TATATATAT,TATATATATATTATATATAT,TATATATATTATATATAT
[Show Flanks]
- Chromosome:
- 15:73580422
(GRCh38)
15:73872764
(GRCh37)
- Canonical SPDI:
- NC_000015.10:73580422:TATATATAT:TATATATATTATATATAT,NC_000015.10:73580422:TATATATAT:TATATATATTATATATATATTATATATAT,NC_000015.10:73580422:TATATATAT:TATATATATTATATATATTATATATAT
- Gene:
- NPTN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATATATTATATATATATTATATATAT=0./0
(
ALFA)
TATATATATTATATATAT=0.000004/1
(TOPMED)
- HGVS:
7.
rs1491449789 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 15:73559637
(GRCh38)
15:73851978
(GRCh37)
- Canonical SPDI:
- NC_000015.10:73559636:AT:
- Gene:
- NPTN (Varview), REC114 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
8.
rs1491435344 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TATATATATAATATATAT
[Show Flanks]
- Chromosome:
- 15:73580411
(GRCh38)
15:73872753
(GRCh37)
- Canonical SPDI:
- NC_000015.10:73580411:TATATATATAATATATAT:TATATATATAATATATATTATATATATAATATATAT
- Gene:
- NPTN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TATATATATAATATATATTATATATATAATATATAT=0./0
(
ALFA)
- HGVS:
9.
rs1491415330 has merged into rs10539085 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 15:73567013
(GRCh38)
15:73859354
(GRCh37)
- Canonical SPDI:
- NC_000015.10:73567002:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000015.10:73567002:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:73567002:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:73567002:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:73567002:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:73567002:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:73567002:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:73567002:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:73567002:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:73567002:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:73567002:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:73567002:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:73567002:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:73567002:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- NPTN (Varview), NPTN-IT1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
-=0.0828/319
(ALSPAC)
-=0.1931/967
(1000Genomes)
- HGVS:
NC_000015.10:g.73567013_73567023del, NC_000015.10:g.73567015_73567023del, NC_000015.10:g.73567016_73567023del, NC_000015.10:g.73567017_73567023del, NC_000015.10:g.73567018_73567023del, NC_000015.10:g.73567019_73567023del, NC_000015.10:g.73567020_73567023del, NC_000015.10:g.73567021_73567023del, NC_000015.10:g.73567022_73567023del, NC_000015.10:g.73567023del, NC_000015.10:g.73567023dup, NC_000015.10:g.73567022_73567023dup, NC_000015.10:g.73567021_73567023dup, NC_000015.10:g.73567013_73567023dup, NC_000015.9:g.73859354_73859364del, NC_000015.9:g.73859356_73859364del, NC_000015.9:g.73859357_73859364del, NC_000015.9:g.73859358_73859364del, NC_000015.9:g.73859359_73859364del, NC_000015.9:g.73859360_73859364del, NC_000015.9:g.73859361_73859364del, NC_000015.9:g.73859362_73859364del, NC_000015.9:g.73859363_73859364del, NC_000015.9:g.73859364del, NC_000015.9:g.73859364dup, NC_000015.9:g.73859363_73859364dup, NC_000015.9:g.73859362_73859364dup, NC_000015.9:g.73859354_73859364dup, NR_103844.1:n.2531_2541del, NR_103844.1:n.2533_2541del, NR_103844.1:n.2534_2541del, NR_103844.1:n.2535_2541del, NR_103844.1:n.2536_2541del, NR_103844.1:n.2537_2541del, NR_103844.1:n.2538_2541del, NR_103844.1:n.2539_2541del, NR_103844.1:n.2540_2541del, NR_103844.1:n.2541del, NR_103844.1:n.2541dup, NR_103844.1:n.2540_2541dup, NR_103844.1:n.2539_2541dup, NR_103844.1:n.2531_2541dup
10.
rs1491402138 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 15:73567002
(GRCh38)
15:73859343
(GRCh37)
- Canonical SPDI:
- NC_000015.10:73567001:CT:
- Gene:
- NPTN (Varview), NPTN-IT1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00008/1
(
ALFA)
-=0.00004/4
(GnomAD)
- HGVS:
11.
rs1491342329 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T,TATATATATTATATATATAATATATATATT
[Show Flanks]
- Chromosome:
- 15:73580421
(GRCh38)
15:73872763
(GRCh37)
- Canonical SPDI:
- NC_000015.10:73580421::T,NC_000015.10:73580421::TATATATATTATATATATAATATATATATT
- Gene:
- NPTN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00004/1
(TOMMO)
- HGVS:
12.
rs1491315196 has merged into rs77251246 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA,AAAAAA
[Show Flanks]
- Chromosome:
- 15:73605738
(GRCh38)
15:73898079
(GRCh37)
- Canonical SPDI:
- NC_000015.10:73605726:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:73605726:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:73605726:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:73605726:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:73605726:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:73605726:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
- Gene:
- NPTN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.2817/1411
(1000Genomes)
-=0.3706/209
(NorthernSweden)
A=0.475/19
(GENOME_DK)
-=0.4819/1787
(TWINSUK)
-=0.4896/1887
(ALSPAC)
- HGVS:
NC_000015.10:g.73605738_73605741del, NC_000015.10:g.73605739_73605741del, NC_000015.10:g.73605740_73605741del, NC_000015.10:g.73605741del, NC_000015.10:g.73605741dup, NC_000015.10:g.73605740_73605741dup, NC_000015.9:g.73898079_73898082del, NC_000015.9:g.73898080_73898082del, NC_000015.9:g.73898081_73898082del, NC_000015.9:g.73898082del, NC_000015.9:g.73898082dup, NC_000015.9:g.73898081_73898082dup
13.
rs1491304368 has merged into rs112811114 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 15:73579288
(GRCh38)
15:73871629
(GRCh37)
- Canonical SPDI:
- NC_000015.10:73579277:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:73579277:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:73579277:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:73579277:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:73579277:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:73579277:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:73579277:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:73579277:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- NPTN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.4406/252
(NorthernSweden)
- HGVS:
NC_000015.10:g.73579288_73579294del, NC_000015.10:g.73579291_73579294del, NC_000015.10:g.73579292_73579294del, NC_000015.10:g.73579293_73579294del, NC_000015.10:g.73579294del, NC_000015.10:g.73579294dup, NC_000015.10:g.73579293_73579294dup, NC_000015.10:g.73579287_73579294dup, NC_000015.9:g.73871629_73871635del, NC_000015.9:g.73871632_73871635del, NC_000015.9:g.73871633_73871635del, NC_000015.9:g.73871634_73871635del, NC_000015.9:g.73871635del, NC_000015.9:g.73871635dup, NC_000015.9:g.73871634_73871635dup, NC_000015.9:g.73871628_73871635dup
14.
rs1491285783 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 15:73580410
(GRCh38)
15:73872752
(GRCh37)
- Canonical SPDI:
- NC_000015.10:73580410::T
- Gene:
- NPTN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.00001/1
(GnomAD)
- HGVS:
16.
rs1491267074 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 15:73560150
(GRCh38)
15:73852491
(GRCh37)
- Canonical SPDI:
- NC_000015.10:73560147:AAAA:AA
- Gene:
- NPTN (Varview), REC114 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,genic_downstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
17.
rs1491249039 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 15:73580441
(GRCh38)
15:73872782
(GRCh37)
- Canonical SPDI:
- NC_000015.10:73580440:AA:
- Gene:
- NPTN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.0006/41
(GnomAD)
- HGVS:
18.
rs1491190799 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 15:73580410
(GRCh38)
15:73872751
(GRCh37)
- Canonical SPDI:
- NC_000015.10:73580409:AA:
- Gene:
- NPTN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00034/32
(GnomAD)
- HGVS:
19.
rs1491157320 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TATCATCAACCAGTAAATC
[Show Flanks]
- Chromosome:
- 15:73560148
(GRCh38)
15:73852490
(GRCh37)
- Canonical SPDI:
- NC_000015.10:73560148:AAATCTATCATCAACCAGTAAATC:AAATCTATCATCAACCAGTAAATCTATCATCAACCAGTAAATC
- Gene:
- NPTN (Varview), REC114 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,genic_downstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
AAATCTATCATCAACCAGTAAATCTATCATCAACCAGTAAATC=0./0
(
ALFA)
AAATCTATCATCAACCAGT=0.00005/7
(GnomAD)
- HGVS:
20.
rs1491066382 has merged into rs55815192 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 15:73584773
(GRCh38)
15:73877114
(GRCh37)
- Canonical SPDI:
- NC_000015.10:73584764:AAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000015.10:73584764:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:73584764:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:73584764:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:73584764:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:73584764:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:73584764:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:73584764:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:73584764:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73584764:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73584764:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73584764:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73584764:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- NPTN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000015.10:g.73584773_73584784del, NC_000015.10:g.73584777_73584784del, NC_000015.10:g.73584778_73584784del, NC_000015.10:g.73584779_73584784del, NC_000015.10:g.73584781_73584784del, NC_000015.10:g.73584782_73584784del, NC_000015.10:g.73584783_73584784del, NC_000015.10:g.73584784del, NC_000015.10:g.73584784dup, NC_000015.10:g.73584783_73584784dup, NC_000015.10:g.73584782_73584784dup, NC_000015.10:g.73584781_73584784dup, NC_000015.10:g.73584780_73584784dup, NC_000015.9:g.73877114_73877125del, NC_000015.9:g.73877118_73877125del, NC_000015.9:g.73877119_73877125del, NC_000015.9:g.73877120_73877125del, NC_000015.9:g.73877122_73877125del, NC_000015.9:g.73877123_73877125del, NC_000015.9:g.73877124_73877125del, NC_000015.9:g.73877125del, NC_000015.9:g.73877125dup, NC_000015.9:g.73877124_73877125dup, NC_000015.9:g.73877123_73877125dup, NC_000015.9:g.73877122_73877125dup, NC_000015.9:g.73877121_73877125dup