Links from Gene
Items: 1 to 20 of 7883
1.
rs1491075925 has merged into rs35791914 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAAAA>-,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 13:97435469
(GRCh38)
13:98087723
(GRCh37)
- Canonical SPDI:
- NC_000013.11:97435465:AAAAAAAAAAAAAAAAAAAAAA:AAA,NC_000013.11:97435465:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000013.11:97435465:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000013.11:97435465:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000013.11:97435465:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:97435465:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:97435465:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:97435465:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:97435465:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:97435465:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000013.11:97435465:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:97435465:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000013.11:97435465:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000013.11:97435465:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000013.11:97435465:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:97435465:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:97435465:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:97435465:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:97435465:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:97435465:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:97435465:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:97435465:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- RAP2A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAA=0./0
(
ALFA)
A=0.013/65
(1000Genomes)
- HGVS:
NC_000013.11:g.97435469_97435487del, NC_000013.11:g.97435475_97435487del, NC_000013.11:g.97435476_97435487del, NC_000013.11:g.97435477_97435487del, NC_000013.11:g.97435478_97435487del, NC_000013.11:g.97435479_97435487del, NC_000013.11:g.97435480_97435487del, NC_000013.11:g.97435481_97435487del, NC_000013.11:g.97435482_97435487del, NC_000013.11:g.97435483_97435487del, NC_000013.11:g.97435484_97435487del, NC_000013.11:g.97435485_97435487del, NC_000013.11:g.97435486_97435487del, NC_000013.11:g.97435487del, NC_000013.11:g.97435487dup, NC_000013.11:g.97435486_97435487dup, NC_000013.11:g.97435485_97435487dup, NC_000013.11:g.97435484_97435487dup, NC_000013.11:g.97435483_97435487dup, NC_000013.11:g.97435482_97435487dup, NC_000013.11:g.97435481_97435487dup, NC_000013.11:g.97435475_97435487dup, NC_000013.10:g.98087723_98087741del, NC_000013.10:g.98087729_98087741del, NC_000013.10:g.98087730_98087741del, NC_000013.10:g.98087731_98087741del, NC_000013.10:g.98087732_98087741del, NC_000013.10:g.98087733_98087741del, NC_000013.10:g.98087734_98087741del, NC_000013.10:g.98087735_98087741del, NC_000013.10:g.98087736_98087741del, NC_000013.10:g.98087737_98087741del, NC_000013.10:g.98087738_98087741del, NC_000013.10:g.98087739_98087741del, NC_000013.10:g.98087740_98087741del, NC_000013.10:g.98087741del, NC_000013.10:g.98087741dup, NC_000013.10:g.98087740_98087741dup, NC_000013.10:g.98087739_98087741dup, NC_000013.10:g.98087738_98087741dup, NC_000013.10:g.98087737_98087741dup, NC_000013.10:g.98087736_98087741dup, NC_000013.10:g.98087735_98087741dup, NC_000013.10:g.98087729_98087741dup
2.
rs1490971153 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 13:97451409
(GRCh38)
13:98103663
(GRCh37)
- Canonical SPDI:
- NC_000013.11:97451408:C:T
- Gene:
- RAP2A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
3.
rs1490797891 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 13:97439034
(GRCh38)
13:98091288
(GRCh37)
- Canonical SPDI:
- NC_000013.11:97439033:C:T
- Gene:
- RAP2A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
4.
rs1490624551 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 13:97461339
(GRCh38)
13:98113593
(GRCh37)
- Canonical SPDI:
- NC_000013.11:97461338:G:T
- Gene:
- RAP2A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
5.
rs1490560422 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 13:97435280
(GRCh38)
13:98087534
(GRCh37)
- Canonical SPDI:
- NC_000013.11:97435279:T:G
- Gene:
- RAP2A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
6.
rs1490494981 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 13:97452952
(GRCh38)
13:98105206
(GRCh37)
- Canonical SPDI:
- NC_000013.11:97452951:T:C
- Gene:
- RAP2A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
7.
rs1490452059 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 13:97436025
(GRCh38)
13:98088279
(GRCh37)
- Canonical SPDI:
- NC_000013.11:97436024:T:C
- Gene:
- RAP2A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
8.
rs1490449289 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 13:97461968
(GRCh38)
13:98114223
(GRCh37)
- Canonical SPDI:
- NC_000013.11:97461968::T
- Gene:
- RAP2A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
T=0.000107/14
(GnomAD)
T=0.000625/4
(1000Genomes)
T=0.001699/28
(TOMMO)
T=0.002818/5
(Korea1K)
- HGVS:
9.
rs1490310714 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 13:97443272
(GRCh38)
13:98095526
(GRCh37)
- Canonical SPDI:
- NC_000013.11:97443271:T:G
- Gene:
- RAP2A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
G=0.000007/1
(GnomAD)
- HGVS:
11.
rs1490293918 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 13:97460341
(GRCh38)
13:98112595
(GRCh37)
- Canonical SPDI:
- NC_000013.11:97460340:G:T
- Gene:
- RAP2A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
12.
rs1490287435 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 13:97464480
(GRCh38)
13:98116734
(GRCh37)
- Canonical SPDI:
- NC_000013.11:97464479:T:C
- Gene:
- RAP2A (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000102/2
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
C=0.000008/2
(GnomAD_exomes)
- HGVS:
13.
rs1490117053 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AATA>-
[Show Flanks]
- Chromosome:
- 13:97450993
(GRCh38)
13:98103247
(GRCh37)
- Canonical SPDI:
- NC_000013.11:97450992:AATA:
- Gene:
- RAP2A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
14.
rs1490042942 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 13:97467428
(GRCh38)
13:98119682
(GRCh37)
- Canonical SPDI:
- NC_000013.11:97467427:C:G
- Gene:
- RAP2A (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
15.
rs1489958043 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 13:97462941
(GRCh38)
13:98115195
(GRCh37)
- Canonical SPDI:
- NC_000013.11:97462940:T:G
- Gene:
- RAP2A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
- HGVS:
16.
rs1489894984 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 13:97444004
(GRCh38)
13:98096258
(GRCh37)
- Canonical SPDI:
- NC_000013.11:97444003:T:C
- Gene:
- RAP2A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
17.
rs1489868996 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 13:97442878
(GRCh38)
13:98095132
(GRCh37)
- Canonical SPDI:
- NC_000013.11:97442877:A:C
- Gene:
- RAP2A (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:
18.
rs1489819197 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 13:97444404
(GRCh38)
13:98096658
(GRCh37)
- Canonical SPDI:
- NC_000013.11:97444403:A:G
- Gene:
- RAP2A (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:
19.
rs1489805355 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 13:97460800
(GRCh38)
13:98113054
(GRCh37)
- Canonical SPDI:
- NC_000013.11:97460799:C:T
- Gene:
- RAP2A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
20.
rs1489699517 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 13:97434882
(GRCh38)
13:98087136
(GRCh37)
- Canonical SPDI:
- NC_000013.11:97434881:G:C,NC_000013.11:97434881:G:T
- Gene:
- RAP2A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000342/1
(KOREAN)
- HGVS: