Links from Gene
Items: 1 to 20 of 1000
1.
rs1491468539 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAAA
[Show Flanks]
- Chromosome:
- 6:142079112
(GRCh38)
6:142400249
(GRCh37)
- Canonical SPDI:
- NC_000006.12:142079110:AAA:A,NC_000006.12:142079110:AAA:AA,NC_000006.12:142079110:AAA:AAAAA
- Gene:
- NMBR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0./0
(GnomAD)
-=0.00049/6
(TOMMO)
- HGVS:
2.
rs1491404926 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 6:142079129
(GRCh38)
6:142400266
(GRCh37)
- Canonical SPDI:
- NC_000006.12:142079127:AGA:A
- Gene:
- NMBR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
-=0.00014/3
(GnomAD)
- HGVS:
3.
rs1491270224 has merged into rs767477652 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTT>-,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 6:142080322
(GRCh38)
6:142401459
(GRCh37)
- Canonical SPDI:
- NC_000006.12:142080311:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:142080311:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:142080311:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:142080311:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:142080311:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:142080311:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:142080311:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:142080311:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:142080311:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:142080311:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:142080311:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:142080311:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:142080311:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:142080311:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:142080311:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:142080311:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- NMBR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
T=0.425/17
(GENOME_DK)
- HGVS:
NC_000006.12:g.142080322_142080330del, NC_000006.12:g.142080324_142080330del, NC_000006.12:g.142080325_142080330del, NC_000006.12:g.142080327_142080330del, NC_000006.12:g.142080328_142080330del, NC_000006.12:g.142080329_142080330del, NC_000006.12:g.142080330del, NC_000006.12:g.142080330dup, NC_000006.12:g.142080329_142080330dup, NC_000006.12:g.142080328_142080330dup, NC_000006.12:g.142080327_142080330dup, NC_000006.12:g.142080326_142080330dup, NC_000006.12:g.142080325_142080330dup, NC_000006.12:g.142080324_142080330dup, NC_000006.12:g.142080323_142080330dup, NC_000006.12:g.142080321_142080330dup, NC_000006.11:g.142401459_142401467del, NC_000006.11:g.142401461_142401467del, NC_000006.11:g.142401462_142401467del, NC_000006.11:g.142401464_142401467del, NC_000006.11:g.142401465_142401467del, NC_000006.11:g.142401466_142401467del, NC_000006.11:g.142401467del, NC_000006.11:g.142401467dup, NC_000006.11:g.142401466_142401467dup, NC_000006.11:g.142401465_142401467dup, NC_000006.11:g.142401464_142401467dup, NC_000006.11:g.142401463_142401467dup, NC_000006.11:g.142401462_142401467dup, NC_000006.11:g.142401461_142401467dup, NC_000006.11:g.142401460_142401467dup, NC_000006.11:g.142401458_142401467dup
4.
rs1491211054 has merged into rs34172798 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG
[Show Flanks]
- Chromosome:
- 6:142126278
(GRCh38)
6:142447415
(GRCh37)
- Canonical SPDI:
- NC_000006.12:142126261:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTG,NC_000006.12:142126261:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG,NC_000006.12:142126261:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTG,NC_000006.12:142126261:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:142126261:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:142126261:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:142126261:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:142126261:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
- Gene:
- NMBR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGTGTGTG=0./0
(
ALFA)
TG=0.09167/55
(NorthernSweden)
TG=0.15/6
(GENOME_DK)
- HGVS:
NC_000006.12:g.142126262TG[8], NC_000006.12:g.142126262TG[9], NC_000006.12:g.142126262TG[10], NC_000006.12:g.142126262TG[11], NC_000006.12:g.142126262TG[13], NC_000006.12:g.142126262TG[14], NC_000006.12:g.142126262TG[15], NC_000006.12:g.142126262TG[16], NC_000006.11:g.142447399TG[8], NC_000006.11:g.142447399TG[9], NC_000006.11:g.142447399TG[10], NC_000006.11:g.142447399TG[11], NC_000006.11:g.142447399TG[13], NC_000006.11:g.142447399TG[14], NC_000006.11:g.142447399TG[15], NC_000006.11:g.142447399TG[16]
5.
rs1491094068 has merged into rs907843418 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TG>-,TGTG
[Show Flanks]
- Chromosome:
- 6:142075402
(GRCh38)
6:142396539
(GRCh37)
- Canonical SPDI:
- NC_000006.12:142075393:TGTGTGTGTG:TGTGTGTG,NC_000006.12:142075393:TGTGTGTGTG:TGTGTGTGTGTG
- Gene:
- NMBR (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTG=0./0
(
ALFA)
-=0.000026/7
(TOPMED)
- HGVS:
NC_000006.12:g.142075394TG[4], NC_000006.12:g.142075394TG[6], NC_000006.11:g.142396531TG[4], NC_000006.11:g.142396531TG[6], NM_002511.4:c.*245CA[4], NM_002511.4:c.*245CA[6], NM_002511.3:c.*245CA[4], NM_002511.3:c.*245CA[6], NM_001324307.2:c.*245CA[4], NM_001324307.2:c.*245CA[6], NM_001324307.1:c.*245CA[4], NM_001324307.1:c.*245CA[6], NM_001324308.2:c.*245CA[4], NM_001324308.2:c.*245CA[6], NM_001324308.1:c.*245CA[4], NM_001324308.1:c.*245CA[6]
6.
rs1491082090 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 6:142094000
(GRCh38)
6:142415137
(GRCh37)
- Canonical SPDI:
- NC_000006.12:142093998:TGT:T
- Gene:
- NMBR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000169/2
(
ALFA)
-=0.00003/3
(GnomAD)
-=0.000212/2
(TOMMO)
-=0.002294/3
(Korea1K)
- HGVS:
7.
rs1490998752 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:142084110
(GRCh38)
6:142405247
(GRCh37)
- Canonical SPDI:
- NC_000006.12:142084109:T:C
- Gene:
- NMBR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000021/3
(GnomAD)
C=0.000023/6
(TOPMED)
- HGVS:
8.
rs1490973951 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:142143551
(GRCh38)
6:142464688
(GRCh37)
- Canonical SPDI:
- NC_000006.12:142143550:T:C
- Gene:
- NMBR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD)
- HGVS:
9.
rs1490908126 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:142121691
(GRCh38)
6:142442828
(GRCh37)
- Canonical SPDI:
- NC_000006.12:142121690:C:T
- Gene:
- NMBR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
10.
rs1490828231 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 6:142103739
(GRCh38)
6:142424876
(GRCh37)
- Canonical SPDI:
- NC_000006.12:142103738:C:A
- Gene:
- NMBR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
11.
rs1490824000 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:142094628
(GRCh38)
6:142415765
(GRCh37)
- Canonical SPDI:
- NC_000006.12:142094627:A:G
- Gene:
- NMBR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000035/1
(TOMMO)
- HGVS:
12.
rs1490790558 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:142091498
(GRCh38)
6:142412635
(GRCh37)
- Canonical SPDI:
- NC_000006.12:142091497:T:C
- Gene:
- NMBR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
13.
rs1490734270 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 6:142129744
(GRCh38)
6:142450881
(GRCh37)
- Canonical SPDI:
- NC_000006.12:142129743:T:C,NC_000006.12:142129743:T:G
- Gene:
- NMBR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
14.
rs1490710352 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 6:142096077
(GRCh38)
6:142417214
(GRCh37)
- Canonical SPDI:
- NC_000006.12:142096076:A:C
- Gene:
- NMBR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.00086/14
(
ALFA)
C=0.02635/77
(KOREAN)
- HGVS:
15.
rs1490698805 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:142077036
(GRCh38)
6:142398173
(GRCh37)
- Canonical SPDI:
- NC_000006.12:142077035:T:C
- Gene:
- NMBR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
16.
rs1490695811 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:142075960
(GRCh38)
6:142397097
(GRCh37)
- Canonical SPDI:
- NC_000006.12:142075959:C:T
- Gene:
- NMBR (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
NC_000006.12:g.142075960C>T, NC_000006.11:g.142397097C>T, NM_002511.4:c.861G>A, NM_002511.3:c.861G>A, NM_002511.2:c.861G>A, NM_001324307.2:c.417G>A, NM_001324307.1:c.417G>A, NM_001324308.2:c.417G>A, NM_001324308.1:c.417G>A, NP_002502.2:p.Met287Ile, NP_001311236.1:p.Met139Ile, NP_001311237.1:p.Met139Ile
17.
rs1490682605 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 6:142127657
(GRCh38)
6:142448794
(GRCh37)
- Canonical SPDI:
- NC_000006.12:142127656:C:A,NC_000006.12:142127656:C:T
- Gene:
- NMBR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000184/3
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
T=0.00067/3
(Estonian)
- HGVS:
18.
rs1490629221 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAGT>-
[Show Flanks]
- Chromosome:
- 6:142091918
(GRCh38)
6:142413055
(GRCh37)
- Canonical SPDI:
- NC_000006.12:142091915:GTAAGT:GT
- Gene:
- NMBR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GT=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
- HGVS:
19.
rs1490606634 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:142078400
(GRCh38)
6:142399537
(GRCh37)
- Canonical SPDI:
- NC_000006.12:142078399:A:G
- Gene:
- NMBR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
G=0.000312/2
(1000Genomes)
- HGVS:
20.
rs1490558343 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 6:142145202
(GRCh38)
6:142466339
(GRCh37)
- Canonical SPDI:
- NC_000006.12:142145201:A:T
- Gene:
- NMBR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000034/9
(TOPMED)
- HGVS: