Links from Gene
Items: 1 to 20 of 4884
1.
rs1491485357 has merged into rs71984552 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTTT,TTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 12:4553649
(GRCh38)
12:4662815
(GRCh37)
- Canonical SPDI:
- NC_000012.12:4553638:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:4553638:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:4553638:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:4553638:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:4553638:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:4553638:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:4553638:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- RAD51AP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
-=0.15833/95
(NorthernSweden)
-=0.22366/862
(ALSPAC)
-=0.23544/873
(TWINSUK)
-=0.29054/1455
(1000Genomes)
-=0.325/13
(GENOME_DK)
- HGVS:
NC_000012.12:g.4553649_4553651del, NC_000012.12:g.4553650_4553651del, NC_000012.12:g.4553651del, NC_000012.12:g.4553651dup, NC_000012.12:g.4553649_4553651dup, NC_000012.12:g.4553645_4553651dup, NC_000012.12:g.4553651_4553652insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.4662815_4662817del, NC_000012.11:g.4662816_4662817del, NC_000012.11:g.4662817del, NC_000012.11:g.4662817dup, NC_000012.11:g.4662815_4662817dup, NC_000012.11:g.4662811_4662817dup, NC_000012.11:g.4662817_4662818insTTTTTTTTTTTTTTTTTTTTTTTTTT
2.
rs1491292109 has merged into rs34322898 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 12:4540568
(GRCh38)
12:4649734
(GRCh37)
- Canonical SPDI:
- NC_000012.12:4540553:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:4540553:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:4540553:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:4540553:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:4540553:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:4540553:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:4540553:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- RAD51AP1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.425/17
(GENOME_DK)
- HGVS:
NC_000012.12:g.4540568_4540570del, NC_000012.12:g.4540569_4540570del, NC_000012.12:g.4540570del, NC_000012.12:g.4540570dup, NC_000012.12:g.4540569_4540570dup, NC_000012.12:g.4540568_4540570dup, NC_000012.12:g.4540563_4540570dup, NC_000012.11:g.4649734_4649736del, NC_000012.11:g.4649735_4649736del, NC_000012.11:g.4649736del, NC_000012.11:g.4649736dup, NC_000012.11:g.4649735_4649736dup, NC_000012.11:g.4649734_4649736dup, NC_000012.11:g.4649729_4649736dup, NG_051648.1:g.2953_2955del, NG_051648.1:g.2954_2955del, NG_051648.1:g.2955del, NG_051648.1:g.2955dup, NG_051648.1:g.2954_2955dup, NG_051648.1:g.2953_2955dup, NG_051648.1:g.2948_2955dup
4.
rs1491258322 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 12:4551511
(GRCh38)
12:4660677
(GRCh37)
- Canonical SPDI:
- NC_000012.12:4551510:AG:
- Gene:
- RAD51AP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.000084/1
(
ALFA)
-=0.000014/2
(GnomAD)
- HGVS:
5.
rs1491117282 has merged into rs11435226 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT
[Show Flanks]
- Chromosome:
- 12:4554056
(GRCh38)
12:4663222
(GRCh37)
- Canonical SPDI:
- NC_000012.12:4554047:TTTTTTTTTT:TTTTTTTT,NC_000012.12:4554047:TTTTTTTTTT:TTTTTTTTT,NC_000012.12:4554047:TTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:4554047:TTTTTTTTTT:TTTTTTTTTTTT
- Gene:
- RAD51AP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
-=0.0071/13
(Korea1K)
-=0.1092/501
(1000Genomes)
- HGVS:
6.
rs1491025311 has merged into rs34322898 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 12:4540568
(GRCh38)
12:4649734
(GRCh37)
- Canonical SPDI:
- NC_000012.12:4540553:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:4540553:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:4540553:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:4540553:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:4540553:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:4540553:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:4540553:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- RAD51AP1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.425/17
(GENOME_DK)
- HGVS:
NC_000012.12:g.4540568_4540570del, NC_000012.12:g.4540569_4540570del, NC_000012.12:g.4540570del, NC_000012.12:g.4540570dup, NC_000012.12:g.4540569_4540570dup, NC_000012.12:g.4540568_4540570dup, NC_000012.12:g.4540563_4540570dup, NC_000012.11:g.4649734_4649736del, NC_000012.11:g.4649735_4649736del, NC_000012.11:g.4649736del, NC_000012.11:g.4649736dup, NC_000012.11:g.4649735_4649736dup, NC_000012.11:g.4649734_4649736dup, NC_000012.11:g.4649729_4649736dup, NG_051648.1:g.2953_2955del, NG_051648.1:g.2954_2955del, NG_051648.1:g.2955del, NG_051648.1:g.2955dup, NG_051648.1:g.2954_2955dup, NG_051648.1:g.2953_2955dup, NG_051648.1:g.2948_2955dup
7.
rs1491009604 has merged into rs11435226 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT
[Show Flanks]
- Chromosome:
- 12:4554056
(GRCh38)
12:4663222
(GRCh37)
- Canonical SPDI:
- NC_000012.12:4554047:TTTTTTTTTT:TTTTTTTT,NC_000012.12:4554047:TTTTTTTTTT:TTTTTTTTT,NC_000012.12:4554047:TTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:4554047:TTTTTTTTTT:TTTTTTTTTTTT
- Gene:
- RAD51AP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
-=0.0071/13
(Korea1K)
-=0.1092/501
(1000Genomes)
- HGVS:
8.
rs1490881391 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 12:4559087
(GRCh38)
12:4668253
(GRCh37)
- Canonical SPDI:
- NC_000012.12:4559086:A:G,NC_000012.12:4559086:A:T
- Gene:
- RAD51AP1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000012.12:g.4559087A>G, NC_000012.12:g.4559087A>T, NC_000012.11:g.4668253A>G, NC_000012.11:g.4668253A>T, NM_006479.5:c.*94A>G, NM_006479.5:c.*94A>T, NM_006479.4:c.*94A>G, NM_006479.4:c.*94A>T, NM_001130862.2:c.*94A>G, NM_001130862.2:c.*94A>T, NM_001130862.1:c.*94A>G, NM_001130862.1:c.*94A>T, XM_047428085.1:c.*94A>G, XM_047428085.1:c.*94A>T, XM_047428086.1:c.*94A>G, XM_047428086.1:c.*94A>T, XM_047428087.1:c.*94A>G, XM_047428087.1:c.*94A>T, XM_047428088.1:c.*94A>G, XM_047428088.1:c.*94A>T, XM_047428092.1:c.*94A>G, XM_047428092.1:c.*94A>T, XM_047428093.1:c.*94A>G, XM_047428093.1:c.*94A>T, XM_047428089.1:c.*94A>G, XM_047428089.1:c.*94A>T, XM_047428091.1:c.*94A>G, XM_047428091.1:c.*94A>T, XM_047428090.1:c.*94A>G, XM_047428090.1:c.*94A>T, XM_047428095.1:c.*186A>G, XM_047428095.1:c.*186A>T, XM_047428094.1:c.*94A>G, XM_047428094.1:c.*94A>T, XM_047428097.1:c.*186A>G, XM_047428097.1:c.*186A>T, NM_001410959.1:c.*186A>G, NM_001410959.1:c.*186A>T, XM_047428098.1:c.*94A>G, XM_047428098.1:c.*94A>T
9.
rs1490807409 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 12:4540221
(GRCh38)
12:4649387
(GRCh37)
- Canonical SPDI:
- NC_000012.12:4540220:A:T
- Gene:
- RAD51AP1 (Varview), C12orf4 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
10.
rs1490715664 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:4553697
(GRCh38)
12:4662863
(GRCh37)
- Canonical SPDI:
- NC_000012.12:4553696:C:T
- Gene:
- RAD51AP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000029/4
(GnomAD)
T=0.000177/3
(TOMMO)
T=0.000546/1
(Korea1K)
T=0.00463/1
(Vietnamese)
- HGVS:
11.
rs1490651767 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:4551101
(GRCh38)
12:4660267
(GRCh37)
- Canonical SPDI:
- NC_000012.12:4551100:A:G
- Gene:
- RAD51AP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
12.
rs1490564857 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 12:4548450
(GRCh38)
12:4657616
(GRCh37)
- Canonical SPDI:
- NC_000012.12:4548449:T:G
- Gene:
- RAD51AP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
13.
rs1490534332 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 12:4548272
(GRCh38)
12:4657438
(GRCh37)
- Canonical SPDI:
- NC_000012.12:4548271:T:A
- Gene:
- RAD51AP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
A=0./0
(KOREAN)
A=0.000007/1
(GnomAD)
- HGVS:
14.
rs1490408522 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:4548094
(GRCh38)
12:4657260
(GRCh37)
- Canonical SPDI:
- NC_000012.12:4548093:A:G
- Gene:
- RAD51AP1 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000012.12:g.4548094A>G, NC_000012.11:g.4657260A>G, NM_006479.5:c.322A>G, NM_006479.4:c.322A>G, NM_001130862.2:c.373A>G, NM_001130862.1:c.373A>G, XM_047428085.1:c.373A>G, XM_047428086.1:c.322A>G, XM_047428087.1:c.211A>G, XM_047428088.1:c.211A>G, XM_047428092.1:c.112A>G, XM_047428093.1:c.112A>G, XM_047428089.1:c.373A>G, XM_047428091.1:c.112A>G, XM_047428090.1:c.322A>G, XM_047428095.1:c.373A>G, XM_047428094.1:c.112A>G, XM_047428097.1:c.322A>G, NM_001410959.1:c.322A>G, XM_047428098.1:c.-33A>G, XM_047428096.1:c.373A>G, XM_047428099.1:c.322A>G, NP_006470.1:p.Ile108Val, NP_001124334.1:p.Ile125Val, XP_047284041.1:p.Ile125Val, XP_047284042.1:p.Ile108Val, XP_047284043.1:p.Ile71Val, XP_047284044.1:p.Ile71Val, XP_047284048.1:p.Ile38Val, XP_047284049.1:p.Ile38Val, XP_047284045.1:p.Ile125Val, XP_047284047.1:p.Ile38Val, XP_047284046.1:p.Ile108Val, XP_047284051.1:p.Ile125Val, XP_047284050.1:p.Ile38Val, XP_047284053.1:p.Ile108Val, XP_047284052.1:p.Ile125Val, XP_047284055.1:p.Ile108Val
15.
rs1490390343 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 12:4558500
(GRCh38)
12:4667666
(GRCh37)
- Canonical SPDI:
- NC_000012.12:4558499:AAAAA:AAAA
- Gene:
- RAD51AP1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAA=0.000071/1
(
ALFA)
-=0.000036/5
(GnomAD)
-=0.000049/13
(TOPMED)
- HGVS:
16.
rs1490296951 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 12:4551771
(GRCh38)
12:4660937
(GRCh37)
- Canonical SPDI:
- NC_000012.12:4551770:G:A,NC_000012.12:4551770:G:T
- Gene:
- RAD51AP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
18.
rs1490061933 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:4559666
(GRCh38)
12:4668832
(GRCh37)
- Canonical SPDI:
- NC_000012.12:4559665:T:C
- Gene:
- RAD51AP1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,genic_downstream_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:
NC_000012.12:g.4559666T>C, NC_000012.11:g.4668832T>C, NM_006479.5:c.*673T>C, NM_006479.4:c.*673T>C, NM_001130862.2:c.*673T>C, NM_001130862.1:c.*673T>C, XM_047428085.1:c.*673T>C, XM_047428086.1:c.*673T>C, XM_047428087.1:c.*673T>C, XM_047428088.1:c.*673T>C, XM_047428092.1:c.*673T>C, XM_047428093.1:c.*673T>C, XM_047428089.1:c.*673T>C, XM_047428091.1:c.*673T>C, XM_047428090.1:c.*673T>C, XM_047428095.1:c.*765T>C, XM_047428094.1:c.*673T>C, XM_047428097.1:c.*765T>C, NM_001410959.1:c.*765T>C, XM_047428098.1:c.*673T>C
19.
rs1489922415 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 12:4545255
(GRCh38)
12:4654421
(GRCh37)
- Canonical SPDI:
- NC_000012.12:4545254:C:G
- Gene:
- RAD51AP1 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000016/2
(GnomAD_exomes)
G=0.000212/4
(TOMMO)
G=0.001092/2
(Korea1K)
G=0.001711/5
(KOREAN)
- HGVS:
20.
rs1489641553 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:4549591
(GRCh38)
12:4658757
(GRCh37)
- Canonical SPDI:
- NC_000012.12:4549590:C:T
- Gene:
- RAD51AP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000019/5
(TOPMED)
T=0.000043/6
(GnomAD)
- HGVS: