Links from Gene
Items: 1 to 20 of 1000
1.
rs1491572747 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->AC,G
[Show Flanks]
- Chromosome:
- 7:6402537
(GRCh38)
7:6442169
(GRCh37)
- Canonical SPDI:
- NC_000007.14:6402537::AC,NC_000007.14:6402537::G
- Gene:
- RAC1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
AC=0.000008/1
(GnomAD)
- HGVS:
NC_000007.14:g.6402537_6402538insAC, NC_000007.14:g.6402537_6402538insG, NC_000007.13:g.6442168_6442169insAC, NC_000007.13:g.6442168_6442169insG, NG_029431.1:g.33043_33044insAC, NG_029431.1:g.33043_33044insG, NM_006908.5:c.*91_*92insAC, NM_006908.5:c.*91_*92insG, NM_006908.4:c.*91_*92insAC, NM_006908.4:c.*91_*92insG, NM_018890.4:c.*91_*92insAC, NM_018890.4:c.*91_*92insG, NM_018890.3:c.*91_*92insAC, NM_018890.3:c.*91_*92insG, NM_198829.1:c.*91_*92insAC, NM_198829.1:c.*91_*92insG
3.
rs1491459304 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 7:6378180
(GRCh38)
7:6417812
(GRCh37)
- Canonical SPDI:
- NC_000007.14:6378180::G
- Gene:
- RAC1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000142/2
(
ALFA)
G=0.000337/47
(GnomAD)
G=0.000359/95
(TOPMED)
G=0.000468/2
(1000Genomes)
- HGVS:
4.
rs1491450639 has merged into rs372331869 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 7:6373328
(GRCh38)
7:6412959
(GRCh37)
- Canonical SPDI:
- NC_000007.14:6373314:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:6373314:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:6373314:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:6373314:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:6373314:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:6373314:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:6373314:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- RAC1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.425/17
(GENOME_DK)
-=0.46306/2319
(1000Genomes)
- HGVS:
NC_000007.14:g.6373328_6373331del, NC_000007.14:g.6373329_6373331del, NC_000007.14:g.6373330_6373331del, NC_000007.14:g.6373331del, NC_000007.14:g.6373331dup, NC_000007.14:g.6373330_6373331dup, NC_000007.14:g.6373324_6373331dup, NC_000007.13:g.6412959_6412962del, NC_000007.13:g.6412960_6412962del, NC_000007.13:g.6412961_6412962del, NC_000007.13:g.6412962del, NC_000007.13:g.6412962dup, NC_000007.13:g.6412961_6412962dup, NC_000007.13:g.6412955_6412962dup, NG_029431.1:g.3834_3837del, NG_029431.1:g.3835_3837del, NG_029431.1:g.3836_3837del, NG_029431.1:g.3837del, NG_029431.1:g.3837dup, NG_029431.1:g.3836_3837dup, NG_029431.1:g.3830_3837dup
5.
rs1491448174 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 7:6379268
(GRCh38)
7:6418899
(GRCh37)
- Canonical SPDI:
- NC_000007.14:6379267:AT:
- Gene:
- RAC1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000011/1
(GnomAD)
- HGVS:
6.
rs1491391236 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 7:6376780
(GRCh38)
7:6416412
(GRCh37)
- Canonical SPDI:
- NC_000007.14:6376780::A
- Gene:
- RAC1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.00067/2
(GnomAD)
- HGVS:
7.
rs1491363464 has merged into rs35795933 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 7:6376792
(GRCh38)
7:6416423
(GRCh37)
- Canonical SPDI:
- NC_000007.14:6376779:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:6376779:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:6376779:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:6376779:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:6376779:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:6376779:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:6376779:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:6376779:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:6376779:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:6376779:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:6376779:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:6376779:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:6376779:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:6376779:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- RAC1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000007.14:g.6376792_6376800del, NC_000007.14:g.6376793_6376800del, NC_000007.14:g.6376794_6376800del, NC_000007.14:g.6376795_6376800del, NC_000007.14:g.6376796_6376800del, NC_000007.14:g.6376797_6376800del, NC_000007.14:g.6376798_6376800del, NC_000007.14:g.6376799_6376800del, NC_000007.14:g.6376800del, NC_000007.14:g.6376800dup, NC_000007.14:g.6376799_6376800dup, NC_000007.14:g.6376798_6376800dup, NC_000007.14:g.6376797_6376800dup, NC_000007.14:g.6376796_6376800dup, NC_000007.13:g.6416423_6416431del, NC_000007.13:g.6416424_6416431del, NC_000007.13:g.6416425_6416431del, NC_000007.13:g.6416426_6416431del, NC_000007.13:g.6416427_6416431del, NC_000007.13:g.6416428_6416431del, NC_000007.13:g.6416429_6416431del, NC_000007.13:g.6416430_6416431del, NC_000007.13:g.6416431del, NC_000007.13:g.6416431dup, NC_000007.13:g.6416430_6416431dup, NC_000007.13:g.6416429_6416431dup, NC_000007.13:g.6416428_6416431dup, NC_000007.13:g.6416427_6416431dup, NG_029431.1:g.7298_7306del, NG_029431.1:g.7299_7306del, NG_029431.1:g.7300_7306del, NG_029431.1:g.7301_7306del, NG_029431.1:g.7302_7306del, NG_029431.1:g.7303_7306del, NG_029431.1:g.7304_7306del, NG_029431.1:g.7305_7306del, NG_029431.1:g.7306del, NG_029431.1:g.7306dup, NG_029431.1:g.7305_7306dup, NG_029431.1:g.7304_7306dup, NG_029431.1:g.7303_7306dup, NG_029431.1:g.7302_7306dup
8.
rs1491296962 has merged into rs5882093 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 7:6389210
(GRCh38)
7:6428841
(GRCh37)
- Canonical SPDI:
- NC_000007.14:6389203:AAAAAAAAAAAAAAA:AAAAAA,NC_000007.14:6389203:AAAAAAAAAAAAAAA:AAAAAAAAA,NC_000007.14:6389203:AAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:6389203:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:6389203:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:6389203:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:6389203:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:6389203:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:6389203:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
- Gene:
- RAC1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAA=0./0
(
ALFA)
AA=0.3001/1503
(1000Genomes)
- HGVS:
NC_000007.14:g.6389210_6389218del, NC_000007.14:g.6389213_6389218del, NC_000007.14:g.6389214_6389218del, NC_000007.14:g.6389215_6389218del, NC_000007.14:g.6389216_6389218del, NC_000007.14:g.6389217_6389218del, NC_000007.14:g.6389218del, NC_000007.14:g.6389218dup, NC_000007.14:g.6389217_6389218dup, NC_000007.13:g.6428841_6428849del, NC_000007.13:g.6428844_6428849del, NC_000007.13:g.6428845_6428849del, NC_000007.13:g.6428846_6428849del, NC_000007.13:g.6428847_6428849del, NC_000007.13:g.6428848_6428849del, NC_000007.13:g.6428849del, NC_000007.13:g.6428849dup, NC_000007.13:g.6428848_6428849dup, NG_029431.1:g.19716_19724del, NG_029431.1:g.19719_19724del, NG_029431.1:g.19720_19724del, NG_029431.1:g.19721_19724del, NG_029431.1:g.19722_19724del, NG_029431.1:g.19723_19724del, NG_029431.1:g.19724del, NG_029431.1:g.19724dup, NG_029431.1:g.19723_19724dup
9.
rs1491279712 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 7:6380378
(GRCh38)
7:6420009
(GRCh37)
- Canonical SPDI:
- NC_000007.14:6380377:AT:
- Gene:
- RAC1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00017/2
(
ALFA)
-=0.00015/15
(GnomAD)
-=0.00016/1
(1000Genomes)
- HGVS:
10.
rs1491230747 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 7:6373314
(GRCh38)
7:6412945
(GRCh37)
- Canonical SPDI:
- NC_000007.14:6373313:CT:
- Gene:
- RAC1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000008/1
(GnomAD)
-=0.000312/2
(1000Genomes)
- HGVS:
11.
rs1491166978 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-,CACA
[Show Flanks]
- Chromosome:
- 7:6402538
(GRCh38)
7:6442169
(GRCh37)
- Canonical SPDI:
- NC_000007.14:6402536:ACA:A,NC_000007.14:6402536:ACA:ACACA
- Gene:
- RAC1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.0003/5
(TOMMO)
- HGVS:
NC_000007.14:g.6402538_6402539del, NC_000007.14:g.6402538_6402539dup, NC_000007.13:g.6442169_6442170del, NC_000007.13:g.6442169_6442170dup, NG_029431.1:g.33044_33045del, NG_029431.1:g.33044_33045dup, NM_006908.5:c.*92_*93del, NM_006908.5:c.*92_*93dup, NM_006908.4:c.*92_*93del, NM_006908.4:c.*92_*93dup, NM_018890.4:c.*92_*93del, NM_018890.4:c.*92_*93dup, NM_018890.3:c.*92_*93del, NM_018890.3:c.*92_*93dup, NM_198829.1:c.*92_*93del, NM_198829.1:c.*92_*93dup
12.
rs1491097235 has merged into rs1189477952 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 7:6376779
(GRCh38)
7:6416410
(GRCh37)
- Canonical SPDI:
- NC_000007.14:6376777:TGT:T
- Gene:
- RAC1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.027508/102
(TWINSUK)
- HGVS:
13.
rs1490964408 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:6392854
(GRCh38)
7:6432485
(GRCh37)
- Canonical SPDI:
- NC_000007.14:6392853:C:T
- Gene:
- RAC1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
T=0.000342/1
(KOREAN)
- HGVS:
14.
rs1490954056 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 7:6393648
(GRCh38)
7:6433279
(GRCh37)
- Canonical SPDI:
- NC_000007.14:6393647:T:A
- Gene:
- RAC1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
16.
rs1490698903 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 7:6382957
(GRCh38)
7:6422588
(GRCh37)
- Canonical SPDI:
- NC_000007.14:6382956:C:A
- Gene:
- RAC1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
17.
rs1490633966 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:6377712
(GRCh38)
7:6417343
(GRCh37)
- Canonical SPDI:
- NC_000007.14:6377711:T:C
- Gene:
- RAC1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.00028/8
(TOMMO)
- HGVS:
18.
rs1490615269 has merged into rs1436549557 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-,AA
[Show Flanks]
- Chromosome:
- 7:6390598
(GRCh38)
7:6430229
(GRCh37)
- Canonical SPDI:
- NC_000007.14:6390597:AAAAAAAAAA:AAAAAAAAA,NC_000007.14:6390597:AAAAAAAAAA:AAAAAAAAAAA
- Gene:
- RAC1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0.000762/14
(
ALFA)
-=0.000514/136
(TOPMED)
A=0.000895/15
(TOMMO)
-=0.003129/14
(Estonian)
-=0.016376/30
(Korea1K)
- HGVS:
19.
rs1490569581 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 7:6387367
(GRCh38)
7:6426998
(GRCh37)
- Canonical SPDI:
- NC_000007.14:6387366:T:G
- Gene:
- RAC1 (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:
20.
rs1490462622 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:6393190
(GRCh38)
7:6432821
(GRCh37)
- Canonical SPDI:
- NC_000007.14:6393189:T:C
- Gene:
- RAC1 (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: