Links from Gene
Items: 1 to 20 of 3357
1.
rs1490686161 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:2837183
(GRCh38)
12:2946349
(GRCh37)
- Canonical SPDI:
- NC_000012.12:2837182:A:G
- Gene:
- ITFG2 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000015/4
(TOPMED)
- HGVS:
2.
rs1490196826 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:2828784
(GRCh38)
12:2937950
(GRCh37)
- Canonical SPDI:
- NC_000012.12:2828783:G:A
- Gene:
- ITFG2 (Varview), NRIP2 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
3.
rs1489551103 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:2834602
(GRCh38)
12:2943768
(GRCh37)
- Canonical SPDI:
- NC_000012.12:2834601:A:G
- Gene:
- ITFG2 (Varview), NRIP2 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
4.
rs1489409113 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:2830261
(GRCh38)
12:2939427
(GRCh37)
- Canonical SPDI:
- NC_000012.12:2830260:T:C
- Gene:
- ITFG2 (Varview), NRIP2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000036/5
(GnomAD)
C=0.000106/28
(TOPMED)
- HGVS:
5.
rs1489373918 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:2831132
(GRCh38)
12:2940298
(GRCh37)
- Canonical SPDI:
- NC_000012.12:2831131:C:T
- Gene:
- ITFG2 (Varview), NRIP2 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
T=0.000156/1
(1000Genomes)
- HGVS:
6.
rs1489144118 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 12:2826087
(GRCh38)
12:2935253
(GRCh37)
- Canonical SPDI:
- NC_000012.12:2826086:A:T
- Gene:
- ITFG2 (Varview), NRIP2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
7.
rs1488956330 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:2836981
(GRCh38)
12:2946147
(GRCh37)
- Canonical SPDI:
- NC_000012.12:2836980:T:C
- Gene:
- ITFG2 (Varview), NRIP2 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
8.
rs1488849361 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:2828091
(GRCh38)
12:2937257
(GRCh37)
- Canonical SPDI:
- NC_000012.12:2828090:G:A
- Gene:
- ITFG2 (Varview), NRIP2 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
A=0.000023/6
(TOPMED)
A=0.000029/4
(GnomAD)
- HGVS:
9.
rs1487733859 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 12:2834244
(GRCh38)
12:2943410
(GRCh37)
- Canonical SPDI:
- NC_000012.12:2834243:T:G
- Gene:
- ITFG2 (Varview), NRIP2 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
G=0.000546/1
(Korea1K)
- HGVS:
10.
rs1487614191 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:2835988
(GRCh38)
12:2945154
(GRCh37)
- Canonical SPDI:
- NC_000012.12:2835987:A:G
- Gene:
- ITFG2 (Varview), NRIP2 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
G=0.000007/1
(GnomAD)
- HGVS:
11.
rs1487504663 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 12:2826227
(GRCh38)
12:2935393
(GRCh37)
- Canonical SPDI:
- NC_000012.12:2826226:T:G
- Gene:
- ITFG2 (Varview), NRIP2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_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.
rs1487427101 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:2830338
(GRCh38)
12:2939504
(GRCh37)
- Canonical SPDI:
- NC_000012.12:2830337:T:C
- Gene:
- ITFG2 (Varview), NRIP2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0./0
(GnomAD)
C=0.000023/6
(TOPMED)
C=0.000684/2
(KOREAN)
- HGVS:
14.
rs1487240494 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:2835609
(GRCh38)
12:2944775
(GRCh37)
- Canonical SPDI:
- NC_000012.12:2835608:C:T
- Gene:
- ITFG2 (Varview), NRIP2 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
15.
rs1487026321 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 12:2836601
(GRCh38)
12:2945767
(GRCh37)
- Canonical SPDI:
- NC_000012.12:2836600:T:G
- Gene:
- ITFG2 (Varview), NRIP2 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
16.
rs1486852406 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:2824990
(GRCh38)
12:2934156
(GRCh37)
- Canonical SPDI:
- NC_000012.12:2824989:A:G
- Gene:
- ITFG2 (Varview), NRIP2 (Varview)
- Functional Consequence:
- downstream_transcript_variant,intron_variant,3_prime_UTR_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
17.
rs1486780935 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:2830430
(GRCh38)
12:2939596
(GRCh37)
- Canonical SPDI:
- NC_000012.12:2830429:T:C
- Gene:
- ITFG2 (Varview), NRIP2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
18.
rs1486547090 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AACCCCATCTCTA>-
[Show Flanks]
- Chromosome:
- 12:2829901
(GRCh38)
12:2939067
(GRCh37)
- Canonical SPDI:
- NC_000012.12:2829899:AAACCCCATCTCTA:A
- Gene:
- ITFG2 (Varview), NRIP2 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency
- MAF:
-=0.000036/5
(GnomAD)
- HGVS:
19.
rs1486430960 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 12:2831638
(GRCh38)
12:2940804
(GRCh37)
- Canonical SPDI:
- NC_000012.12:2831637:C:G
- Gene:
- ITFG2 (Varview), NRIP2 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS: