Links from Gene
Items: 1 to 20 of 44931
1.
rs1491582685 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 8:144602149
(GRCh38)
8:145827533
(GRCh37)
- Canonical SPDI:
- NC_000008.11:144602148:CT:
- Gene:
- ARHGAP39 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00017/2
(
ALFA)
-=0.00018/18
(GnomAD)
- HGVS:
3.
rs1491543175 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 8:144601510
(GRCh38)
8:145826894
(GRCh37)
- Canonical SPDI:
- NC_000008.11:144601509:AT:
- Gene:
- ARHGAP39 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00017/15
(GnomAD)
-=0.00114/19
(TOMMO)
-=0.00164/3
(Korea1K)
-=0.00167/1
(NorthernSweden)
- HGVS:
4.
rs1491525591 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 8:144601801
(GRCh38)
8:145827185
(GRCh37)
- Canonical SPDI:
- NC_000008.11:144601800:CT:
- Gene:
- ARHGAP39 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.000084/1
(
ALFA)
-=0.000107/11
(GnomAD)
- HGVS:
5.
rs1491519769 has merged into rs1354743945 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATAAAA>-,ATAAAAATAAAA
[Show Flanks]
- Chromosome:
- 8:144683332
(GRCh38)
8:145908717
(GRCh37)
- Canonical SPDI:
- NC_000008.11:144683320:TAAAAATAAAAATAAAA:TAAAAATAAAA,NC_000008.11:144683320:TAAAAATAAAAATAAAA:TAAAAATAAAAATAAAAATAAAA
- Gene:
- ARHGAP39 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TAAAAATAAAAATAAAAATAAAA=0./0
(
ALFA)
- HGVS:
6.
rs1491512183 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 8:144602848
(GRCh38)
8:145828233
(GRCh37)
- Canonical SPDI:
- NC_000008.11:144602848:T:TT
- Gene:
- ARHGAP39 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TT=0./0
(
ALFA)
T=0.000015/2
(GnomAD)
- HGVS:
7.
rs1491509050 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TG>-,TGTG
[Show Flanks]
- Chromosome:
- 8:144601257
(GRCh38)
8:145826641
(GRCh37)
- Canonical SPDI:
- NC_000008.11:144601251:GTGTGTG:GTGTG,NC_000008.11:144601251:GTGTGTG:GTGTGTGTG
- Gene:
- ARHGAP39 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTG=0.00025/3
(
ALFA)
-=0.00012/2
(TOMMO)
- HGVS:
8.
rs1491490233 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CATG
[Show Flanks]
- Chromosome:
- 8:144601252
(GRCh38)
8:145826637
(GRCh37)
- Canonical SPDI:
- NC_000008.11:144601252:TG:TGCATG
- Gene:
- ARHGAP39 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGCATG=0.000506/6
(
ALFA)
TGCA=0.000008/1
(GnomAD)
- HGVS:
9.
rs1491474129 has merged into rs367845670 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGTGTG>-,TG,TGTG,TGTGTGTG
[Show Flanks]
- Chromosome:
- 8:144601810
(GRCh38)
8:145827194
(GRCh37)
- Canonical SPDI:
- NC_000008.11:144601801:TGTGTGTGTGTGTG:TGTGTGTG,NC_000008.11:144601801:TGTGTGTGTGTGTG:TGTGTGTGTG,NC_000008.11:144601801:TGTGTGTGTGTGTG:TGTGTGTGTGTG,NC_000008.11:144601801:TGTGTGTGTGTGTG:TGTGTGTGTGTGTGTG
- Gene:
- ARHGAP39 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTG=0.00025/4
(
ALFA)
-=0.00836/5
(NorthernSweden)
-=0.00986/38
(ALSPAC)
- HGVS:
11.
rs1491466270 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 8:144627572
(GRCh38)
8:145852957
(GRCh37)
- Canonical SPDI:
- NC_000008.11:144627570:AGA:A
- Gene:
- ARHGAP39 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000084/1
(
ALFA)
-=0.000108/2
(TOMMO)
-=0.000145/20
(GnomAD)
-=0.000312/2
(1000Genomes)
- HGVS:
12.
rs1491448117 has merged into rs34670018 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 8:144568346
(GRCh38)
8:145793730
(GRCh37)
- Canonical SPDI:
- NC_000008.11:144568333:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:144568333:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:144568333:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:144568333:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:144568333:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:144568333:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:144568333:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:144568333:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:144568333:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144568333:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144568333:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144568333:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144568333:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144568333:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144568333:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144568333:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144568333:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144568333:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ARHGAP39 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000008.11:g.144568346_144568358del, NC_000008.11:g.144568348_144568358del, NC_000008.11:g.144568349_144568358del, NC_000008.11:g.144568350_144568358del, NC_000008.11:g.144568351_144568358del, NC_000008.11:g.144568352_144568358del, NC_000008.11:g.144568353_144568358del, NC_000008.11:g.144568354_144568358del, NC_000008.11:g.144568355_144568358del, NC_000008.11:g.144568356_144568358del, NC_000008.11:g.144568357_144568358del, NC_000008.11:g.144568358del, NC_000008.11:g.144568358dup, NC_000008.11:g.144568357_144568358dup, NC_000008.11:g.144568356_144568358dup, NC_000008.11:g.144568355_144568358dup, NC_000008.11:g.144568354_144568358dup, NC_000008.11:g.144568353_144568358dup, NC_000008.10:g.145793730_145793742del, NC_000008.10:g.145793732_145793742del, NC_000008.10:g.145793733_145793742del, NC_000008.10:g.145793734_145793742del, NC_000008.10:g.145793735_145793742del, NC_000008.10:g.145793736_145793742del, NC_000008.10:g.145793737_145793742del, NC_000008.10:g.145793738_145793742del, NC_000008.10:g.145793739_145793742del, NC_000008.10:g.145793740_145793742del, NC_000008.10:g.145793741_145793742del, NC_000008.10:g.145793742del, NC_000008.10:g.145793742dup, NC_000008.10:g.145793741_145793742dup, NC_000008.10:g.145793740_145793742dup, NC_000008.10:g.145793739_145793742dup, NC_000008.10:g.145793738_145793742dup, NC_000008.10:g.145793737_145793742dup
13.
rs1491423952 has merged into rs59435627 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 8:144559366
(GRCh38)
8:145784750
(GRCh37)
- Canonical SPDI:
- NC_000008.11:144559354:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:144559354:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:144559354:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:144559354:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:144559354:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:144559354:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:144559354:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:144559354:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:144559354:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:144559354:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:144559354:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144559354:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144559354:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144559354:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144559354:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144559354:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144559354:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144559354:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144559354:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144559354:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144559354:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144559354:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144559354:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144559354:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144559354:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144559354:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144559354:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144559354:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144559354:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ARHGAP39 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
-=0.375/15
(GENOME_DK)
- HGVS:
NC_000008.11:g.144559366_144559382del, NC_000008.11:g.144559367_144559382del, NC_000008.11:g.144559368_144559382del, NC_000008.11:g.144559369_144559382del, NC_000008.11:g.144559370_144559382del, NC_000008.11:g.144559371_144559382del, NC_000008.11:g.144559372_144559382del, NC_000008.11:g.144559373_144559382del, NC_000008.11:g.144559374_144559382del, NC_000008.11:g.144559375_144559382del, NC_000008.11:g.144559376_144559382del, NC_000008.11:g.144559377_144559382del, NC_000008.11:g.144559378_144559382del, NC_000008.11:g.144559379_144559382del, NC_000008.11:g.144559380_144559382del, NC_000008.11:g.144559381_144559382del, NC_000008.11:g.144559382del, NC_000008.11:g.144559382dup, NC_000008.11:g.144559381_144559382dup, NC_000008.11:g.144559380_144559382dup, NC_000008.11:g.144559379_144559382dup, NC_000008.11:g.144559378_144559382dup, NC_000008.11:g.144559377_144559382dup, NC_000008.11:g.144559376_144559382dup, NC_000008.11:g.144559375_144559382dup, NC_000008.11:g.144559372_144559382dup, NC_000008.11:g.144559367_144559382dup, NC_000008.11:g.144559365_144559382dup, NC_000008.11:g.144559361_144559382dup, NC_000008.10:g.145784750_145784766del, NC_000008.10:g.145784751_145784766del, NC_000008.10:g.145784752_145784766del, NC_000008.10:g.145784753_145784766del, NC_000008.10:g.145784754_145784766del, NC_000008.10:g.145784755_145784766del, NC_000008.10:g.145784756_145784766del, NC_000008.10:g.145784757_145784766del, NC_000008.10:g.145784758_145784766del, NC_000008.10:g.145784759_145784766del, NC_000008.10:g.145784760_145784766del, NC_000008.10:g.145784761_145784766del, NC_000008.10:g.145784762_145784766del, NC_000008.10:g.145784763_145784766del, NC_000008.10:g.145784764_145784766del, NC_000008.10:g.145784765_145784766del, NC_000008.10:g.145784766del, NC_000008.10:g.145784766dup, NC_000008.10:g.145784765_145784766dup, NC_000008.10:g.145784764_145784766dup, NC_000008.10:g.145784763_145784766dup, NC_000008.10:g.145784762_145784766dup, NC_000008.10:g.145784761_145784766dup, NC_000008.10:g.145784760_145784766dup, NC_000008.10:g.145784759_145784766dup, NC_000008.10:g.145784756_145784766dup, NC_000008.10:g.145784751_145784766dup, NC_000008.10:g.145784749_145784766dup, NC_000008.10:g.145784745_145784766dup
16.
rs1491360515 has merged into rs5895824 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 8:144697329
(GRCh38)
8:145922714
(GRCh37)
- Canonical SPDI:
- NC_000008.11:144697315:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:144697315:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:144697315:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:144697315:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:144697315:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:144697315:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:144697315:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:144697315:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ARHGAP39 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.0916/353
(ALSPAC)
-=0.4485/2246
(1000Genomes)
- HGVS:
NC_000008.11:g.144697329_144697333del, NC_000008.11:g.144697330_144697333del, NC_000008.11:g.144697331_144697333del, NC_000008.11:g.144697332_144697333del, NC_000008.11:g.144697333del, NC_000008.11:g.144697333dup, NC_000008.11:g.144697332_144697333dup, NC_000008.11:g.144697326_144697333dup, NC_000008.10:g.145922714_145922718del, NC_000008.10:g.145922715_145922718del, NC_000008.10:g.145922716_145922718del, NC_000008.10:g.145922717_145922718del, NC_000008.10:g.145922718del, NC_000008.10:g.145922718dup, NC_000008.10:g.145922717_145922718dup, NC_000008.10:g.145922711_145922718dup, NT_187569.1:g.71812_71816del, NT_187569.1:g.71813_71816del, NT_187569.1:g.71814_71816del, NT_187569.1:g.71815_71816del, NT_187569.1:g.71816del, NT_187569.1:g.71816dup, NT_187569.1:g.71815_71816dup, NT_187569.1:g.71809_71816dup
17.
rs1491352696 has merged into rs1041779842 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 8:144682563
(GRCh38)
8:145907948
(GRCh37)
- Canonical SPDI:
- NC_000008.11:144682548:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:144682548:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:144682548:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:144682548:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:144682548:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:144682548:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:144682548:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144682548:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144682548:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144682548:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144682548:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144682548:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ARHGAP39 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.00347/2
(NorthernSweden)
- HGVS:
NC_000008.11:g.144682563_144682570del, NC_000008.11:g.144682564_144682570del, NC_000008.11:g.144682566_144682570del, NC_000008.11:g.144682567_144682570del, NC_000008.11:g.144682568_144682570del, NC_000008.11:g.144682569_144682570del, NC_000008.11:g.144682570del, NC_000008.11:g.144682570dup, NC_000008.11:g.144682569_144682570dup, NC_000008.11:g.144682568_144682570dup, NC_000008.11:g.144682567_144682570dup, NC_000008.11:g.144682566_144682570dup, NC_000008.10:g.145907948_145907955del, NC_000008.10:g.145907949_145907955del, NC_000008.10:g.145907951_145907955del, NC_000008.10:g.145907952_145907955del, NC_000008.10:g.145907953_145907955del, NC_000008.10:g.145907954_145907955del, NC_000008.10:g.145907955del, NC_000008.10:g.145907955dup, NC_000008.10:g.145907954_145907955dup, NC_000008.10:g.145907953_145907955dup, NC_000008.10:g.145907952_145907955dup, NC_000008.10:g.145907951_145907955dup, NT_187569.1:g.54796_54803del, NT_187569.1:g.54797_54803del, NT_187569.1:g.54799_54803del, NT_187569.1:g.54800_54803del, NT_187569.1:g.54801_54803del, NT_187569.1:g.54802_54803del, NT_187569.1:g.54803del, NT_187569.1:g.54803dup, NT_187569.1:g.54802_54803dup, NT_187569.1:g.54801_54803dup, NT_187569.1:g.54800_54803dup, NT_187569.1:g.54799_54803dup