Links from Gene
Items: 1 to 20 of 4770
1.
rs1491507765 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 1:108449416
(GRCh38)
1:108992038
(GRCh37)
- Canonical SPDI:
- NC_000001.11:108449415:CT:
- Gene:
- NBPF6 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00364/34
(GnomAD)
- HGVS:
2.
rs1491425526 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TGT
[Show Flanks]
- Chromosome:
- 1:108470290
(GRCh38)
1:109012913
(GRCh37)
- Canonical SPDI:
- NC_000001.11:108470290::TGT
- Gene:
- NBPF6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
TGT=0.000159/17
(GnomAD)
- HGVS:
3.
rs1491425424 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 1:108436592
(GRCh38)
1:108979214
(GRCh37)
- Canonical SPDI:
- NC_000001.11:108436591:CA:
- Gene:
- NBPF6 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.01332/158
(
ALFA)
-=0.00133/12
(TOMMO)
- HGVS:
4.
rs1491315269 has merged into rs1165819915 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATATATATATATATATATATATATATATATATAT>-,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATAT
[Show Flanks]
- Chromosome:
- 1:108449428
(GRCh38)
1:108992050
(GRCh37)
- Canonical SPDI:
- NC_000001.11:108449416:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATAT,NC_000001.11:108449416:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATAT,NC_000001.11:108449416:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATAT,NC_000001.11:108449416:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATAT,NC_000001.11:108449416:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATAT,NC_000001.11:108449416:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATAT,NC_000001.11:108449416:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATAT,NC_000001.11:108449416:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATAT,NC_000001.11:108449416:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATAT,NC_000001.11:108449416:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATAT,NC_000001.11:108449416:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATAT,NC_000001.11:108449416:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATAT,NC_000001.11:108449416:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATAT,NC_000001.11:108449416:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATAT,NC_000001.11:108449416:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATAT,NC_000001.11:108449416:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATAT,NC_000001.11:108449416:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATAT,NC_000001.11:108449416:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000001.11:108449416:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000001.11:108449416:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATAT
- Gene:
- NBPF6 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATATATATATAT=0./0
(
ALFA)
TATATATATATATATATATATATATA=0.4808/901
(TOMMO)
- HGVS:
NC_000001.11:g.108449418AT[5], NC_000001.11:g.108449418AT[7], NC_000001.11:g.108449418AT[8], NC_000001.11:g.108449418AT[9], NC_000001.11:g.108449418AT[10], NC_000001.11:g.108449418AT[11], NC_000001.11:g.108449418AT[12], NC_000001.11:g.108449418AT[13], NC_000001.11:g.108449418AT[14], NC_000001.11:g.108449418AT[15], NC_000001.11:g.108449418AT[16], NC_000001.11:g.108449418AT[17], NC_000001.11:g.108449418AT[18], NC_000001.11:g.108449418AT[19], NC_000001.11:g.108449418AT[20], NC_000001.11:g.108449418AT[21], NC_000001.11:g.108449418AT[23], NC_000001.11:g.108449418AT[24], NC_000001.11:g.108449418AT[25], NC_000001.11:g.108449418AT[26], NC_000001.10:g.108992040AT[5], NC_000001.10:g.108992040AT[7], NC_000001.10:g.108992040AT[8], NC_000001.10:g.108992040AT[9], NC_000001.10:g.108992040AT[10], NC_000001.10:g.108992040AT[11], NC_000001.10:g.108992040AT[12], NC_000001.10:g.108992040AT[13], NC_000001.10:g.108992040AT[14], NC_000001.10:g.108992040AT[15], NC_000001.10:g.108992040AT[16], NC_000001.10:g.108992040AT[17], NC_000001.10:g.108992040AT[18], NC_000001.10:g.108992040AT[19], NC_000001.10:g.108992040AT[20], NC_000001.10:g.108992040AT[21], NC_000001.10:g.108992040AT[23], NC_000001.10:g.108992040AT[24], NC_000001.10:g.108992040AT[25], NC_000001.10:g.108992040AT[26], NW_017852928.1:g.256985_256986insATA, NW_017852928.1:g.256956_256986del, NW_017852928.1:g.256960_256986del, NW_017852928.1:g.256962_256986del, NW_017852928.1:g.256964_256986del, NW_017852928.1:g.256966_256986del, NW_017852928.1:g.256968_256986del, NW_017852928.1:g.256970_256986del, NW_017852928.1:g.256972_256986del, NW_017852928.1:g.256974_256986del, NW_017852928.1:g.256976_256986del, NW_017852928.1:g.256978_256986del, NW_017852928.1:g.256980_256986del, NW_017852928.1:g.256982_256986del, NW_017852928.1:g.256984_256986del, NW_017852928.1:g.256987del, NW_017852928.1:g.256985_256986insA, NW_017852928.1:g.256985_256986insATATA, NW_017852928.1:g.256985_256986insATATATA, NW_017852928.1:g.256985_256986insATATATATA, NW_017852928.1:g.256985_256986insATATATATATA
5.
rs1491269339 has merged into rs1179619304 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATATATAT>-,AT,ATAT,ATATAT,ATATATATAT,ATATATATATAT
[Show Flanks]
- Chromosome:
- 1:108453016
(GRCh38)
1:108995638
(GRCh37)
- Canonical SPDI:
- NC_000001.11:108453008:TATATATATATATAT:TATATAT,NC_000001.11:108453008:TATATATATATATAT:TATATATAT,NC_000001.11:108453008:TATATATATATATAT:TATATATATAT,NC_000001.11:108453008:TATATATATATATAT:TATATATATATAT,NC_000001.11:108453008:TATATATATATATAT:TATATATATATATATAT,NC_000001.11:108453008:TATATATATATATAT:TATATATATATATATATAT
- Gene:
- NBPF6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATATAT=0./0
(
ALFA)
TA=0.00781/3
(NorthernSweden)
- HGVS:
NC_000001.11:g.108453010AT[3], NC_000001.11:g.108453010AT[4], NC_000001.11:g.108453010AT[5], NC_000001.11:g.108453010AT[6], NC_000001.11:g.108453010AT[8], NC_000001.11:g.108453010AT[9], NC_000001.10:g.108995632AT[3], NC_000001.10:g.108995632AT[4], NC_000001.10:g.108995632AT[5], NC_000001.10:g.108995632AT[6], NC_000001.10:g.108995632AT[8], NC_000001.10:g.108995632AT[9], NW_017852928.1:g.253365TA[5], NW_017852928.1:g.253365TA[6], NW_017852928.1:g.253365TA[7], NW_017852928.1:g.253365TA[8], NW_017852928.1:g.253365TA[10], NW_017852928.1:g.253365TA[11]
6.
rs1491237836 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->GC
[Show Flanks]
- Chromosome:
- 1:108453009
(GRCh38)
1:108995632
(GRCh37)
- Canonical SPDI:
- NC_000001.11:108453009::GC
- Gene:
- NBPF6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GC=0./0
(
ALFA)
GC=0.00037/20
(GnomAD)
- HGVS:
8.
rs1491203147 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->CA,CATA
[Show Flanks]
- Chromosome:
- 1:108449416
(GRCh38)
1:108992039
(GRCh37)
- Canonical SPDI:
- NC_000001.11:108449416::CA,NC_000001.11:108449416::CATA
- Gene:
- NBPF6 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
CATA=0./0
(
ALFA)
CA=0.00034/3
(GnomAD)
- HGVS:
10.
rs1491140096 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TC>-
[Show Flanks]
- Chromosome:
- 1:108470587
(GRCh38)
1:109013209
(GRCh37)
- Canonical SPDI:
- NC_000001.11:108470578:TCTCTCTCTC:TCTCTCTC
- Gene:
- NBPF6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCTCTCTC=0.000043/1
(
ALFA)
-=0.000019/5
(TOPMED)
- HGVS:
11.
rs1491108983 has merged into rs1184109662 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:108436603
(GRCh38)
1:108979225
(GRCh37)
- Canonical SPDI:
- NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- NBPF6 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000001.11:g.108436603_108436613del, NC_000001.11:g.108436605_108436613del, NC_000001.11:g.108436606_108436613del, NC_000001.11:g.108436607_108436613del, NC_000001.11:g.108436608_108436613del, NC_000001.11:g.108436609_108436613del, NC_000001.11:g.108436611_108436613del, NC_000001.11:g.108436612_108436613del, NC_000001.11:g.108436613del, NC_000001.11:g.108436613dup, NC_000001.11:g.108436611_108436613dup, NC_000001.11:g.108436610_108436613dup, NC_000001.11:g.108436609_108436613dup, NC_000001.11:g.108436605_108436613dup, NC_000001.11:g.108436604_108436613dup, NC_000001.11:g.108436596_108436613dup, NC_000001.10:g.108979225_108979235del, NC_000001.10:g.108979227_108979235del, NC_000001.10:g.108979228_108979235del, NC_000001.10:g.108979229_108979235del, NC_000001.10:g.108979230_108979235del, NC_000001.10:g.108979231_108979235del, NC_000001.10:g.108979233_108979235del, NC_000001.10:g.108979234_108979235del, NC_000001.10:g.108979235del, NC_000001.10:g.108979235dup, NC_000001.10:g.108979233_108979235dup, NC_000001.10:g.108979232_108979235dup, NC_000001.10:g.108979231_108979235dup, NC_000001.10:g.108979227_108979235dup, NC_000001.10:g.108979226_108979235dup, NC_000001.10:g.108979218_108979235dup, NW_017852928.1:g.269793_269803del, NW_017852928.1:g.269795_269803del, NW_017852928.1:g.269796_269803del, NW_017852928.1:g.269797_269803del, NW_017852928.1:g.269798_269803del, NW_017852928.1:g.269799_269803del, NW_017852928.1:g.269801_269803del, NW_017852928.1:g.269802_269803del, NW_017852928.1:g.269803del, NW_017852928.1:g.269803dup, NW_017852928.1:g.269801_269803dup, NW_017852928.1:g.269800_269803dup, NW_017852928.1:g.269799_269803dup, NW_017852928.1:g.269795_269803dup, NW_017852928.1:g.269794_269803dup, NW_017852928.1:g.269786_269803dup
13.
rs1490740043 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTT>-
[Show Flanks]
- Chromosome:
- 1:108452502
(GRCh38)
1:108995124
(GRCh37)
- Canonical SPDI:
- NC_000001.11:108452497:TCTTCTT:TCTT
- Gene:
- NBPF6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCTT=0.00135/16
(
ALFA)
-=0.00125/8
(1000Genomes)
-=0.00153/81
(GnomAD)
- HGVS:
14.
rs1490656967 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:108469318
(GRCh38)
1:109011940
(GRCh37)
- Canonical SPDI:
- NC_000001.11:108469317:C:T
- Gene:
- NBPF6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
16.
rs1490597705 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:108438281
(GRCh38)
1:108980903
(GRCh37)
- Canonical SPDI:
- NC_000001.11:108438280:C:A
- Gene:
- NBPF6 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.00003/8
(TOPMED)
- HGVS:
17.
rs1490583574 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:108458559
(GRCh38)
1:109001181
(GRCh37)
- Canonical SPDI:
- NC_000001.11:108458558:A:G
- Gene:
- NBPF6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.00143/17
(
ALFA)
G=0.00116/90
(GnomAD)
- HGVS:
19.
rs1490248311 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 1:108451120
(GRCh38)
1:108993742
(GRCh37)
- Canonical SPDI:
- NC_000001.11:108451119:T:A,NC_000001.11:108451119:T:C
- Gene:
- NBPF6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.00005/2
(GnomAD)
- HGVS: