Links from Gene
Items: 1 to 20 of 3830
1.
rs1491080061 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTG
[Show Flanks]
- Chromosome:
- 2:130428058
(GRCh38)
2:131185632
(GRCh37)
- Canonical SPDI:
- NC_000002.12:130428058:TG:TGCTG
- Gene:
- FAR2P2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TGCTG=0.000169/2
(
ALFA)
TGC=0.00003/4
(GnomAD)
- HGVS:
2.
rs1490789295 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 2:130428744
(GRCh38)
2:131186317
(GRCh37)
- Canonical SPDI:
- NC_000002.12:130428743:C:G,NC_000002.12:130428743:C:T
- Gene:
- FAR2P2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
3.
rs1490787190 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:130419670
(GRCh38)
2:131177243
(GRCh37)
- Canonical SPDI:
- NC_000002.12:130419669:A:G
- Gene:
- FAR2P2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
5.
rs1490688402 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 2:130427911
(GRCh38)
2:131185484
(GRCh37)
- Canonical SPDI:
- NC_000002.12:130427910:C:A,NC_000002.12:130427910:C:T
- Gene:
- FAR2P2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
T=0.000342/1
(KOREAN)
- HGVS:
NC_000002.12:g.130427911C>A, NC_000002.12:g.130427911C>T, NC_000002.11:g.131185484C>A, NC_000002.11:g.131185484C>T, NG_045031.1:g.281C>A, NG_045031.1:g.281C>T, NR_046258.1:n.636G>T, NR_046258.1:n.636G>A, NR_046259.1:n.636G>T, NR_046259.1:n.636G>A, NR_046260.1:n.636G>T, NR_046260.1:n.636G>A
6.
rs1490524521 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 2:130428398
(GRCh38)
2:131185971
(GRCh37)
- Canonical SPDI:
- NC_000002.12:130428397:G:A,NC_000002.12:130428397:G:C
- Gene:
- FAR2P2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
NC_000002.12:g.130428398G>A, NC_000002.12:g.130428398G>C, NC_000002.11:g.131185971G>A, NC_000002.11:g.131185971G>C, NG_045031.1:g.768G>A, NG_045031.1:g.768G>C, NR_046258.1:n.149C>T, NR_046258.1:n.149C>G, NR_046259.1:n.149C>T, NR_046259.1:n.149C>G, NR_046260.1:n.149C>T, NR_046260.1:n.149C>G
7.
rs1490477602 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:130427261
(GRCh38)
2:131184834
(GRCh37)
- Canonical SPDI:
- NC_000002.12:130427260:C:T
- Gene:
- FAR2P2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000084/1
(
ALFA)
T=0.000033/4
(GnomAD)
- HGVS:
8.
rs1490420386 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 2:130423809
(GRCh38)
2:131181383
(GRCh37)
- Canonical SPDI:
- NC_000002.12:130423809:T:TT
- Gene:
- FAR2P2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0.000071/1
(
ALFA)
T=0.000023/6
(TOPMED)
T=0.00003/4
(GnomAD)
- HGVS:
9.
rs1490368554 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 2:130424554
(GRCh38)
2:131182127
(GRCh37)
- Canonical SPDI:
- NC_000002.12:130424553:G:A,NC_000002.12:130424553:G:C
- Gene:
- FAR2P2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
10.
rs1490198588 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:130427497
(GRCh38)
2:131185070
(GRCh37)
- Canonical SPDI:
- NC_000002.12:130427496:T:C
- Gene:
- FAR2P2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000061/1
(
ALFA)
C=0.000062/8
(GnomAD)
- HGVS:
11.
rs1490188984 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 2:130424170
(GRCh38)
2:131181743
(GRCh37)
- Canonical SPDI:
- NC_000002.12:130424169:T:C,NC_000002.12:130424169:T:G
- Gene:
- FAR2P2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
12.
rs1490159228 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 2:130425863
(GRCh38)
2:131183436
(GRCh37)
- Canonical SPDI:
- NC_000002.12:130425862:A:G,NC_000002.12:130425862:A:T
- Gene:
- FAR2P2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
13.
rs1489988481 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:130426560
(GRCh38)
2:131184133
(GRCh37)
- Canonical SPDI:
- NC_000002.12:130426559:G:A
- Gene:
- FAR2P2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
14.
rs1489865940 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 2:130417549
(GRCh38)
2:131175122
(GRCh37)
- Canonical SPDI:
- NC_000002.12:130417548:C:A,NC_000002.12:130417548:C:G
- Gene:
- FAR2P2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
15.
rs1489807492 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:130428435
(GRCh38)
2:131186008
(GRCh37)
- Canonical SPDI:
- NC_000002.12:130428434:T:C
- Gene:
- FAR2P2 (Varview)
- Functional Consequence:
- non_coding_transcript_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.
rs1489779273 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:130419350
(GRCh38)
2:131176923
(GRCh37)
- Canonical SPDI:
- NC_000002.12:130419349:G:A
- Gene:
- FAR2P2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000169/2
(
ALFA)
A=0.000072/10
(GnomAD)
- HGVS:
17.
rs1489758755 has merged into rs528874370 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-,GG
[Show Flanks]
- Chromosome:
- 2:130425357
(GRCh38)
2:131182930
(GRCh37)
- Canonical SPDI:
- NC_000002.12:130425356:GGGGGGG:GGGGGG,NC_000002.12:130425356:GGGGGGG:GGGGGGGG
- Gene:
- FAR2P2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGGGGG=0./0
(
ALFA)
-=0.01811/91
(1000Genomes)
- HGVS:
18.
rs1489727947 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:130426151
(GRCh38)
2:131183724
(GRCh37)
- Canonical SPDI:
- NC_000002.12:130426150:C:T
- Gene:
- FAR2P2 (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:
20.
rs1489546712 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:130418020
(GRCh38)
2:131175593
(GRCh37)
- Canonical SPDI:
- NC_000002.12:130418019:C:T
- Gene:
- FAR2P2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS: