Links from Gene
Items: 1 to 20 of 8944
2.
rs1491480445 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,ATA,ATATA,ATATATA
[Show Flanks]
- Chromosome:
- 3:121599725
(GRCh38)
3:121318573
(GRCh37)
- Canonical SPDI:
- NC_000003.12:121599725::A,NC_000003.12:121599725::ATA,NC_000003.12:121599725::ATATA,NC_000003.12:121599725::ATATATA
- Gene:
- FBXO40 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATA=0./0
(
ALFA)
A=0.29065/143
(NorthernSweden)
- HGVS:
3.
rs1491359462 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GC
[Show Flanks]
- Chromosome:
- 3:121599673
(GRCh38)
3:121318521
(GRCh37)
- Canonical SPDI:
- NC_000003.12:121599673:GC:GCGC
- Gene:
- FBXO40 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GCGC=0./0
(
ALFA)
GC=0.00005/2
(GnomAD)
GC=0.00018/3
(TOMMO)
- HGVS:
4.
rs1491331294 has merged into rs35637771 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:121599481
(GRCh38)
3:121318328
(GRCh37)
- Canonical SPDI:
- NC_000003.12:121599468:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:121599468:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:121599468:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:121599468:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:121599468:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:121599468:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:121599468:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:121599468:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:121599468:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:121599468:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- FBXO40 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.4683/2345
(1000Genomes)
- HGVS:
NC_000003.12:g.121599481_121599487del, NC_000003.12:g.121599483_121599487del, NC_000003.12:g.121599484_121599487del, NC_000003.12:g.121599485_121599487del, NC_000003.12:g.121599486_121599487del, NC_000003.12:g.121599487del, NC_000003.12:g.121599487dup, NC_000003.12:g.121599486_121599487dup, NC_000003.12:g.121599485_121599487dup, NC_000003.12:g.121599484_121599487dup, NC_000003.11:g.121318328_121318334del, NC_000003.11:g.121318330_121318334del, NC_000003.11:g.121318331_121318334del, NC_000003.11:g.121318332_121318334del, NC_000003.11:g.121318333_121318334del, NC_000003.11:g.121318334del, NC_000003.11:g.121318334dup, NC_000003.11:g.121318333_121318334dup, NC_000003.11:g.121318332_121318334dup, NC_000003.11:g.121318331_121318334dup
5.
rs1491316675 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 3:121599673
(GRCh38)
3:121318520
(GRCh37)
- Canonical SPDI:
- NC_000003.12:121599672:TG:
- Gene:
- FBXO40 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00332/54
(
ALFA)
-=0.00028/20
(GnomAD)
- HGVS:
6.
rs1491266710 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 3:121619177
(GRCh38)
3:121338024
(GRCh37)
- Canonical SPDI:
- NC_000003.12:121619175:TGT:T
- Gene:
- FBXO40 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.018608/69
(TWINSUK)
-=0.023352/90
(ALSPAC)
- HGVS:
7.
rs1491260850 has merged into rs753693720 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 3:121599732
(GRCh38)
3:121318579
(GRCh37)
- Canonical SPDI:
- NC_000003.12:121599724:TTTTTTTTTTTTTTT:TTTTTTT,NC_000003.12:121599724:TTTTTTTTTTTTTTT:TTTTTTTT,NC_000003.12:121599724:TTTTTTTTTTTTTTT:TTTTTTTTT,NC_000003.12:121599724:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:121599724:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:121599724:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:121599724:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:121599724:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:121599724:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:121599724:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:121599724:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:121599724:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
- Gene:
- FBXO40 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000003.12:g.121599732_121599739del, NC_000003.12:g.121599733_121599739del, NC_000003.12:g.121599734_121599739del, NC_000003.12:g.121599735_121599739del, NC_000003.12:g.121599736_121599739del, NC_000003.12:g.121599737_121599739del, NC_000003.12:g.121599738_121599739del, NC_000003.12:g.121599739del, NC_000003.12:g.121599739dup, NC_000003.12:g.121599738_121599739dup, NC_000003.12:g.121599737_121599739dup, NC_000003.12:g.121599736_121599739dup, NC_000003.11:g.121318579_121318586del, NC_000003.11:g.121318580_121318586del, NC_000003.11:g.121318581_121318586del, NC_000003.11:g.121318582_121318586del, NC_000003.11:g.121318583_121318586del, NC_000003.11:g.121318584_121318586del, NC_000003.11:g.121318585_121318586del, NC_000003.11:g.121318586del, NC_000003.11:g.121318586dup, NC_000003.11:g.121318585_121318586dup, NC_000003.11:g.121318584_121318586dup, NC_000003.11:g.121318583_121318586dup
8.
rs1491136115 has merged into rs34114730 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:121613083
(GRCh38)
3:121331930
(GRCh37)
- Canonical SPDI:
- NC_000003.12:121613071:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:121613071:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:121613071:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:121613071:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:121613071:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:121613071:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:121613071:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:121613071:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
- Gene:
- FBXO40 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.253/1267
(1000Genomes)
- HGVS:
NC_000003.12:g.121613083_121613089del, NC_000003.12:g.121613087_121613089del, NC_000003.12:g.121613088_121613089del, NC_000003.12:g.121613089del, NC_000003.12:g.121613089dup, NC_000003.12:g.121613088_121613089dup, NC_000003.12:g.121613087_121613089dup, NC_000003.12:g.121613086_121613089dup, NC_000003.11:g.121331930_121331936del, NC_000003.11:g.121331934_121331936del, NC_000003.11:g.121331935_121331936del, NC_000003.11:g.121331936del, NC_000003.11:g.121331936dup, NC_000003.11:g.121331935_121331936dup, NC_000003.11:g.121331934_121331936dup, NC_000003.11:g.121331933_121331936dup
9.
rs1491088029 has merged into rs34194992 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:121615572
(GRCh38)
3:121334419
(GRCh37)
- Canonical SPDI:
- NC_000003.12:121615562:AAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000003.12:121615562:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:121615562:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:121615562:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:121615562:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:121615562:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:121615562:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:121615562:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:121615562:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:121615562:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:121615562:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:121615562:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:121615562:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:121615562:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:121615562:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- FBXO40 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
-=0.1853/928
(1000Genomes)
- HGVS:
NC_000003.12:g.121615572_121615578del, NC_000003.12:g.121615573_121615578del, NC_000003.12:g.121615575_121615578del, NC_000003.12:g.121615576_121615578del, NC_000003.12:g.121615577_121615578del, NC_000003.12:g.121615578del, NC_000003.12:g.121615578dup, NC_000003.12:g.121615577_121615578dup, NC_000003.12:g.121615576_121615578dup, NC_000003.12:g.121615575_121615578dup, NC_000003.12:g.121615574_121615578dup, NC_000003.12:g.121615573_121615578dup, NC_000003.12:g.121615572_121615578dup, NC_000003.12:g.121615571_121615578dup, NC_000003.12:g.121615570_121615578dup, NC_000003.11:g.121334419_121334425del, NC_000003.11:g.121334420_121334425del, NC_000003.11:g.121334422_121334425del, NC_000003.11:g.121334423_121334425del, NC_000003.11:g.121334424_121334425del, NC_000003.11:g.121334425del, NC_000003.11:g.121334425dup, NC_000003.11:g.121334424_121334425dup, NC_000003.11:g.121334423_121334425dup, NC_000003.11:g.121334422_121334425dup, NC_000003.11:g.121334421_121334425dup, NC_000003.11:g.121334420_121334425dup, NC_000003.11:g.121334419_121334425dup, NC_000003.11:g.121334418_121334425dup, NC_000003.11:g.121334417_121334425dup
10.
rs1491054660 has merged into rs35824526 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:121614280
(GRCh38)
3:121333127
(GRCh37)
- Canonical SPDI:
- NC_000003.12:121614269:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:121614269:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:121614269:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:121614269:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:121614269:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:121614269:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:121614269:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:121614269:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:121614269:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:121614269:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:121614269:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:121614269:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:121614269:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:121614269:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:121614269:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:121614269:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:121614269:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:121614269:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- FBXO40 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
NC_000003.12:g.121614280_121614292del, NC_000003.12:g.121614283_121614292del, NC_000003.12:g.121614284_121614292del, NC_000003.12:g.121614285_121614292del, NC_000003.12:g.121614286_121614292del, NC_000003.12:g.121614287_121614292del, NC_000003.12:g.121614288_121614292del, NC_000003.12:g.121614289_121614292del, NC_000003.12:g.121614290_121614292del, NC_000003.12:g.121614291_121614292del, NC_000003.12:g.121614292del, NC_000003.12:g.121614292dup, NC_000003.12:g.121614291_121614292dup, NC_000003.12:g.121614290_121614292dup, NC_000003.12:g.121614289_121614292dup, NC_000003.12:g.121614288_121614292dup, NC_000003.12:g.121614287_121614292dup, NC_000003.12:g.121614285_121614292dup, NC_000003.11:g.121333127_121333139del, NC_000003.11:g.121333130_121333139del, NC_000003.11:g.121333131_121333139del, NC_000003.11:g.121333132_121333139del, NC_000003.11:g.121333133_121333139del, NC_000003.11:g.121333134_121333139del, NC_000003.11:g.121333135_121333139del, NC_000003.11:g.121333136_121333139del, NC_000003.11:g.121333137_121333139del, NC_000003.11:g.121333138_121333139del, NC_000003.11:g.121333139del, NC_000003.11:g.121333139dup, NC_000003.11:g.121333138_121333139dup, NC_000003.11:g.121333137_121333139dup, NC_000003.11:g.121333136_121333139dup, NC_000003.11:g.121333135_121333139dup, NC_000003.11:g.121333134_121333139dup, NC_000003.11:g.121333132_121333139dup
12.
rs1491050463 has merged into rs34114730 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:121613083
(GRCh38)
3:121331930
(GRCh37)
- Canonical SPDI:
- NC_000003.12:121613071:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:121613071:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:121613071:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:121613071:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:121613071:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:121613071:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:121613071:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:121613071:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
- Gene:
- FBXO40 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.253/1267
(1000Genomes)
- HGVS:
NC_000003.12:g.121613083_121613089del, NC_000003.12:g.121613087_121613089del, NC_000003.12:g.121613088_121613089del, NC_000003.12:g.121613089del, NC_000003.12:g.121613089dup, NC_000003.12:g.121613088_121613089dup, NC_000003.12:g.121613087_121613089dup, NC_000003.12:g.121613086_121613089dup, NC_000003.11:g.121331930_121331936del, NC_000003.11:g.121331934_121331936del, NC_000003.11:g.121331935_121331936del, NC_000003.11:g.121331936del, NC_000003.11:g.121331936dup, NC_000003.11:g.121331935_121331936dup, NC_000003.11:g.121331934_121331936dup, NC_000003.11:g.121331933_121331936dup
14.
rs1491031864 has merged into rs11448457 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,AA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:121615209
(GRCh38)
3:121334056
(GRCh37)
- Canonical SPDI:
- NC_000003.12:121615200:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000003.12:121615200:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:121615200:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:121615200:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:121615200:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:121615200:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:121615200:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:121615200:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:121615200:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:121615200:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:121615200:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:121615200:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:121615200:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:121615200:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:121615200:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:121615200:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:121615200:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- FBXO40 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000003.12:g.121615209_121615221del, NC_000003.12:g.121615211_121615221del, NC_000003.12:g.121615214_121615221del, NC_000003.12:g.121615215_121615221del, NC_000003.12:g.121615216_121615221del, NC_000003.12:g.121615217_121615221del, NC_000003.12:g.121615218_121615221del, NC_000003.12:g.121615219_121615221del, NC_000003.12:g.121615220_121615221del, NC_000003.12:g.121615221del, NC_000003.12:g.121615221dup, NC_000003.12:g.121615220_121615221dup, NC_000003.12:g.121615219_121615221dup, NC_000003.12:g.121615218_121615221dup, NC_000003.12:g.121615217_121615221dup, NC_000003.12:g.121615216_121615221dup, NC_000003.12:g.121615204_121615221dup, NC_000003.11:g.121334056_121334068del, NC_000003.11:g.121334058_121334068del, NC_000003.11:g.121334061_121334068del, NC_000003.11:g.121334062_121334068del, NC_000003.11:g.121334063_121334068del, NC_000003.11:g.121334064_121334068del, NC_000003.11:g.121334065_121334068del, NC_000003.11:g.121334066_121334068del, NC_000003.11:g.121334067_121334068del, NC_000003.11:g.121334068del, NC_000003.11:g.121334068dup, NC_000003.11:g.121334067_121334068dup, NC_000003.11:g.121334066_121334068dup, NC_000003.11:g.121334065_121334068dup, NC_000003.11:g.121334064_121334068dup, NC_000003.11:g.121334063_121334068dup, NC_000003.11:g.121334051_121334068dup
15.
rs1490891575 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:121610813
(GRCh38)
3:121329660
(GRCh37)
- Canonical SPDI:
- NC_000003.12:121610812:G:A
- Gene:
- FBXO40 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
16.
rs1490884879 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:121602533
(GRCh38)
3:121321380
(GRCh37)
- Canonical SPDI:
- NC_000003.12:121602532:C:T
- Gene:
- FBXO40 (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:
18.
rs1490699282 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AATAACAAGGCAGCATTGCTGTAAACA>-
[Show Flanks]
- Chromosome:
- 3:121611480
(GRCh38)
3:121330327
(GRCh37)
- Canonical SPDI:
- NC_000003.12:121611479:AATAACAAGGCAGCATTGCTGTAAACA:
- Gene:
- FBXO40 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
-=0.000029/4
(GnomAD)
- HGVS:
19.
rs1490651943 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 3:121616426
(GRCh38)
3:121335273
(GRCh37)
- Canonical SPDI:
- NC_000003.12:121616425:T:A
- Gene:
- FBXO40 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
20.
rs1490553027 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:121611920
(GRCh38)
3:121330767
(GRCh37)
- Canonical SPDI:
- NC_000003.12:121611919:T:C
- Gene:
- FBXO40 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.0114/51
(
ALFA)
C=0.0005/1
(Korea1K)
- HGVS: