Links from Gene
Items: 1 to 20 of 3170
1.
rs1491071796 has merged into rs539317022 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAA>-,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 9:94324668
(GRCh38)
9:97086950
(GRCh37)
- Canonical SPDI:
- NC_000009.12:94324662:AAAAAAAAAAAAAAAA:AAAAA,NC_000009.12:94324662:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000009.12:94324662:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:94324662:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:94324662:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:94324662:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:94324662:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:94324662:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:94324662:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:94324662:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
- Gene:
- NUTM2F (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.05021/251
(1000Genomes)
- HGVS:
NC_000009.12:g.94324668_94324678del, NC_000009.12:g.94324673_94324678del, NC_000009.12:g.94324674_94324678del, NC_000009.12:g.94324676_94324678del, NC_000009.12:g.94324677_94324678del, NC_000009.12:g.94324678del, NC_000009.12:g.94324678dup, NC_000009.12:g.94324677_94324678dup, NC_000009.12:g.94324675_94324678dup, NC_000009.12:g.94324674_94324678dup, NC_000009.11:g.97086950_97086960del, NC_000009.11:g.97086955_97086960del, NC_000009.11:g.97086956_97086960del, NC_000009.11:g.97086958_97086960del, NC_000009.11:g.97086959_97086960del, NC_000009.11:g.97086960del, NC_000009.11:g.97086960dup, NC_000009.11:g.97086959_97086960dup, NC_000009.11:g.97086957_97086960dup, NC_000009.11:g.97086956_97086960dup
2.
rs1490870365 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:94322065
(GRCh38)
9:97084347
(GRCh37)
- Canonical SPDI:
- NC_000009.12:94322064:G:A
- Gene:
- NUTM2F (Varview), LOC105376154 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
4.
rs1490633666 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,T
[Show Flanks]
- Chromosome:
- 9:94322484
(GRCh38)
9:97084766
(GRCh37)
- Canonical SPDI:
- NC_000009.12:94322483:A:C,NC_000009.12:94322483:A:T
- Gene:
- NUTM2F (Varview), LOC105376154 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000142/2
(
ALFA)
T=0.00003/8
(TOPMED)
T=0.000043/6
(GnomAD)
C=0.001092/2
(Korea1K)
- HGVS:
5.
rs1490598993 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:94324193
(GRCh38)
9:97086475
(GRCh37)
- Canonical SPDI:
- NC_000009.12:94324192:C:T
- Gene:
- NUTM2F (Varview), LOC105376154 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00003/8
(TOPMED)
T=0.00005/7
(GnomAD)
- HGVS:
6.
rs1490404959 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:94329351
(GRCh38)
9:97091633
(GRCh37)
- Canonical SPDI:
- NC_000009.12:94329350:A:G
- Gene:
- NUTM2F (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
G=0.000142/2
(TOMMO)
- HGVS:
7.
rs1490325597 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:94326870
(GRCh38)
9:97089152
(GRCh37)
- Canonical SPDI:
- NC_000009.12:94326869:C:T
- Gene:
- NUTM2F (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
8.
rs1490253276 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 9:94327690
(GRCh38)
9:97089972
(GRCh37)
- Canonical SPDI:
- NC_000009.12:94327689:T:G
- Gene:
- NUTM2F (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.00001/1
(GnomAD)
- HGVS:
9.
rs1490054034 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:94321715
(GRCh38)
9:97083997
(GRCh37)
- Canonical SPDI:
- NC_000009.12:94321714:G:A
- Gene:
- NUTM2F (Varview), LOC105376154 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000015/2
(GnomAD)
- HGVS:
10.
rs1490039138 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:94322451
(GRCh38)
9:97084733
(GRCh37)
- Canonical SPDI:
- NC_000009.12:94322450:T:C
- Gene:
- NUTM2F (Varview), LOC105376154 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
11.
rs1489868949 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:94321305
(GRCh38)
9:97083587
(GRCh37)
- Canonical SPDI:
- NC_000009.12:94321304:A:G
- Gene:
- NUTM2F (Varview), LOC105376154 (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)
- HGVS:
12.
rs1489770022 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 9:94323546
(GRCh38)
9:97085828
(GRCh37)
- Canonical SPDI:
- NC_000009.12:94323545:C:A,NC_000009.12:94323545:C:G,NC_000009.12:94323545:C:T
- Gene:
- NUTM2F (Varview), LOC105376154 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
13.
rs1489351634 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 9:94318765
(GRCh38)
9:97081047
(GRCh37)
- Canonical SPDI:
- NC_000009.12:94318764:G:C
- Gene:
- NUTM2F (Varview), LOC105376154 (Varview)
- Functional Consequence:
- coding_sequence_variant,intron_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000006/1
(GnomAD_exomes)
C=0.000007/1
(GnomAD)
- HGVS:
15.
rs1489024115 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:94323326
(GRCh38)
9:97085608
(GRCh37)
- Canonical SPDI:
- NC_000009.12:94323325:C:T
- Gene:
- NUTM2F (Varview), LOC105376154 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000015/4
(TOPMED)
- HGVS:
17.
rs1488847630 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 9:94327838
(GRCh38)
9:97090120
(GRCh37)
- Canonical SPDI:
- NC_000009.12:94327837:A:C
- Gene:
- NUTM2F (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000019/5
(TOPMED)
C=0.000022/3
(GnomAD)
- HGVS:
18.
rs1488644347 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 9:94323731
(GRCh38)
9:97086013
(GRCh37)
- Canonical SPDI:
- NC_000009.12:94323730:C:G
- Gene:
- NUTM2F (Varview), LOC105376154 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS: