Links from Gene
Items: 1 to 20 of 54332
1.
rs1491545417 has merged into rs576162508 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CC>-,C,CCCC
[Show Flanks]
- Chromosome:
- 8:22932545
(GRCh38)
8:22790058
(GRCh37)
- Canonical SPDI:
- NC_000008.11:22932541:CCCCC:CCC,NC_000008.11:22932541:CCCCC:CCCC,NC_000008.11:22932541:CCCCC:CCCCCCC
- Gene:
- PEBP4 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCC=0./0
(
ALFA)
-=0.0008/4
(1000Genomes)
-=0.00382/7
(Korea1K)
- HGVS:
2.
rs1491541784 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 8:22905284
(GRCh38)
8:22762797
(GRCh37)
- Canonical SPDI:
- NC_000008.11:22905283:TA:
- Gene:
- PEBP4 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000073/10
(GnomAD)
- HGVS:
3.
rs1491538179 has merged into rs10680983 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGTGTGTGTGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
[Show Flanks]
- Chromosome:
- 8:22726016
(GRCh38)
8:22583529
(GRCh37)
- Canonical SPDI:
- NC_000008.11:22725999:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTG,NC_000008.11:22725999:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG,NC_000008.11:22725999:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTG,NC_000008.11:22725999:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTG,NC_000008.11:22725999:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTG,NC_000008.11:22725999:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000008.11:22725999:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000008.11:22725999:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000008.11:22725999:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000008.11:22725999:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000008.11:22725999:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000008.11:22725999:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000008.11:22725999:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000008.11:22725999:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000008.11:22725999:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000008.11:22725999:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000008.11:22725999:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000008.11:22725999:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000008.11:22725999:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000008.11:22725999:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
- Gene:
- PEBP4 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGTGTG=0./0
(
ALFA)
- HGVS:
NC_000008.11:g.22726000TG[8], NC_000008.11:g.22726000TG[9], NC_000008.11:g.22726000TG[10], NC_000008.11:g.22726000TG[11], NC_000008.11:g.22726000TG[12], NC_000008.11:g.22726000TG[13], NC_000008.11:g.22726000TG[14], NC_000008.11:g.22726000TG[15], NC_000008.11:g.22726000TG[17], NC_000008.11:g.22726000TG[18], NC_000008.11:g.22726000TG[19], NC_000008.11:g.22726000TG[20], NC_000008.11:g.22726000TG[21], NC_000008.11:g.22726000TG[22], NC_000008.11:g.22726000TG[23], NC_000008.11:g.22726000TG[24], NC_000008.11:g.22726000TG[25], NC_000008.11:g.22726000TG[26], NC_000008.11:g.22726000TG[27], NC_000008.11:g.22726000TG[28], NC_000008.10:g.22583513TG[8], NC_000008.10:g.22583513TG[9], NC_000008.10:g.22583513TG[10], NC_000008.10:g.22583513TG[11], NC_000008.10:g.22583513TG[12], NC_000008.10:g.22583513TG[13], NC_000008.10:g.22583513TG[14], NC_000008.10:g.22583513TG[15], NC_000008.10:g.22583513TG[17], NC_000008.10:g.22583513TG[18], NC_000008.10:g.22583513TG[19], NC_000008.10:g.22583513TG[20], NC_000008.10:g.22583513TG[21], NC_000008.10:g.22583513TG[22], NC_000008.10:g.22583513TG[23], NC_000008.10:g.22583513TG[24], NC_000008.10:g.22583513TG[25], NC_000008.10:g.22583513TG[26], NC_000008.10:g.22583513TG[27], NC_000008.10:g.22583513TG[28]
4.
rs1491522838 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TCTT
[Show Flanks]
- Chromosome:
- 8:22728563
(GRCh38)
8:22586077
(GRCh37)
- Canonical SPDI:
- NC_000008.11:22728563:CTT:CTTTCTT
- Gene:
- PEBP4 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CTTTCTT=0./0
(
ALFA)
CTTT=0.00005/3
(GnomAD)
- HGVS:
5.
rs1491501331 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AGGAGGGA
[Show Flanks]
- Chromosome:
- 8:22878240
(GRCh38)
8:22735754
(GRCh37)
- Canonical SPDI:
- NC_000008.11:22878240:GGAGGGA:GGAGGGAAGGAGGGA
- Gene:
- PEBP4 (Varview), LOC101929237 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
GGAGGGAA=0.000029/4
(GnomAD)
- HGVS:
6.
rs1491494141 has merged into rs3060707 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT
[Show Flanks]
- Chromosome:
- 8:22862812
(GRCh38)
8:22720325
(GRCh37)
- Canonical SPDI:
- NC_000008.11:22862799:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:22862799:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:22862799:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:22862799:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:22862799:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:22862799:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:22862799:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:22862799:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:22862799:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22862799:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
- Gene:
- PEBP4 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
T=0.4006/2006
(1000Genomes)
- HGVS:
NC_000008.11:g.22862812_22862818del, NC_000008.11:g.22862813_22862818del, NC_000008.11:g.22862814_22862818del, NC_000008.11:g.22862815_22862818del, NC_000008.11:g.22862816_22862818del, NC_000008.11:g.22862817_22862818del, NC_000008.11:g.22862818del, NC_000008.11:g.22862818dup, NC_000008.11:g.22862817_22862818dup, NC_000008.11:g.22862816_22862818dup, NC_000008.10:g.22720325_22720331del, NC_000008.10:g.22720326_22720331del, NC_000008.10:g.22720327_22720331del, NC_000008.10:g.22720328_22720331del, NC_000008.10:g.22720329_22720331del, NC_000008.10:g.22720330_22720331del, NC_000008.10:g.22720331del, NC_000008.10:g.22720331dup, NC_000008.10:g.22720330_22720331dup, NC_000008.10:g.22720329_22720331dup
7.
rs1491468507 has merged into rs33911395 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 8:22795175
(GRCh38)
8:22652688
(GRCh37)
- Canonical SPDI:
- NC_000008.11:22795163:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:22795163:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:22795163:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:22795163:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:22795163:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:22795163:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:22795163:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:22795163:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:22795163:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:22795163:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:22795163:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22795163:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22795163:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22795163:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22795163:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22795163:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22795163:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22795163:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22795163:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22795163:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22795163:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22795163:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22795163:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22795163:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22795163:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22795163:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22795163:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22795163:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22795163:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22795163:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22795163:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22795163:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22795163:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22795163:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22795163:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22795163:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22795163:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22795163:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22795163:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22795163:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22795163:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22795163:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22795163:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- PEBP4 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000008.11:g.22795175_22795193del, NC_000008.11:g.22795176_22795193del, NC_000008.11:g.22795177_22795193del, NC_000008.11:g.22795178_22795193del, NC_000008.11:g.22795179_22795193del, NC_000008.11:g.22795180_22795193del, NC_000008.11:g.22795181_22795193del, NC_000008.11:g.22795182_22795193del, NC_000008.11:g.22795183_22795193del, NC_000008.11:g.22795184_22795193del, NC_000008.11:g.22795185_22795193del, NC_000008.11:g.22795186_22795193del, NC_000008.11:g.22795187_22795193del, NC_000008.11:g.22795188_22795193del, NC_000008.11:g.22795189_22795193del, NC_000008.11:g.22795190_22795193del, NC_000008.11:g.22795191_22795193del, NC_000008.11:g.22795192_22795193del, NC_000008.11:g.22795193del, NC_000008.11:g.22795193dup, NC_000008.11:g.22795192_22795193dup, NC_000008.11:g.22795191_22795193dup, NC_000008.11:g.22795190_22795193dup, NC_000008.11:g.22795189_22795193dup, NC_000008.11:g.22795188_22795193dup, NC_000008.11:g.22795187_22795193dup, NC_000008.11:g.22795164_22795193T[37]ATTTATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.22795186_22795193dup, NC_000008.11:g.22795185_22795193dup, NC_000008.11:g.22795184_22795193dup, NC_000008.11:g.22795183_22795193dup, NC_000008.11:g.22795182_22795193dup, NC_000008.11:g.22795181_22795193dup, NC_000008.11:g.22795180_22795193dup, NC_000008.11:g.22795179_22795193dup, NC_000008.11:g.22795177_22795193dup, NC_000008.11:g.22795176_22795193dup, NC_000008.11:g.22795172_22795193dup, NC_000008.11:g.22795169_22795193dup, NC_000008.11:g.22795167_22795193dup, NC_000008.11:g.22795193_22795194insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.22795193_22795194insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.22795193_22795194insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.22652688_22652706del, NC_000008.10:g.22652689_22652706del, NC_000008.10:g.22652690_22652706del, NC_000008.10:g.22652691_22652706del, NC_000008.10:g.22652692_22652706del, NC_000008.10:g.22652693_22652706del, NC_000008.10:g.22652694_22652706del, NC_000008.10:g.22652695_22652706del, NC_000008.10:g.22652696_22652706del, NC_000008.10:g.22652697_22652706del, NC_000008.10:g.22652698_22652706del, NC_000008.10:g.22652699_22652706del, NC_000008.10:g.22652700_22652706del, NC_000008.10:g.22652701_22652706del, NC_000008.10:g.22652702_22652706del, NC_000008.10:g.22652703_22652706del, NC_000008.10:g.22652704_22652706del, NC_000008.10:g.22652705_22652706del, NC_000008.10:g.22652706del, NC_000008.10:g.22652706dup, NC_000008.10:g.22652705_22652706dup, NC_000008.10:g.22652704_22652706dup, NC_000008.10:g.22652703_22652706dup, NC_000008.10:g.22652702_22652706dup, NC_000008.10:g.22652701_22652706dup, NC_000008.10:g.22652700_22652706dup, NC_000008.10:g.22652677_22652706T[37]ATTTATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.22652699_22652706dup, NC_000008.10:g.22652698_22652706dup, NC_000008.10:g.22652697_22652706dup, NC_000008.10:g.22652696_22652706dup, NC_000008.10:g.22652695_22652706dup, NC_000008.10:g.22652694_22652706dup, NC_000008.10:g.22652693_22652706dup, NC_000008.10:g.22652692_22652706dup, NC_000008.10:g.22652690_22652706dup, NC_000008.10:g.22652689_22652706dup, NC_000008.10:g.22652685_22652706dup, NC_000008.10:g.22652682_22652706dup, NC_000008.10:g.22652680_22652706dup, NC_000008.10:g.22652706_22652707insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.22652706_22652707insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.22652706_22652707insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
8.
rs1491429228 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CAA
[Show Flanks]
- Chromosome:
- 8:22908394
(GRCh38)
8:22765908
(GRCh37)
- Canonical SPDI:
- NC_000008.11:22908394:AA:AACAA
- Gene:
- PEBP4 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AACAA=0./0
(
ALFA)
AAC=0.0001/9
(GnomAD)
- HGVS:
10.
rs1491403308 has merged into rs61376190 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 8:22732650
(GRCh38)
8:22590163
(GRCh37)
- Canonical SPDI:
- NC_000008.11:22732634:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000008.11:22732634:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000008.11:22732634:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000008.11:22732634:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000008.11:22732634:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:22732634:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:22732634:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:22732634:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:22732634:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:22732634:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:22732634:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:22732634:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- PEBP4 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGTGT=0./0
(
ALFA)
- HGVS:
NC_000008.11:g.22732636GT[7], NC_000008.11:g.22732636GT[8], NC_000008.11:g.22732636GT[9], NC_000008.11:g.22732636GT[10], NC_000008.11:g.22732636GT[11], NC_000008.11:g.22732636GT[12], NC_000008.11:g.22732636GT[13], NC_000008.11:g.22732636GT[14], NC_000008.11:g.22732636GT[16], NC_000008.11:g.22732636GT[17], NC_000008.11:g.22732636GT[18], NC_000008.11:g.22732636GT[19], NC_000008.10:g.22590149GT[7], NC_000008.10:g.22590149GT[8], NC_000008.10:g.22590149GT[9], NC_000008.10:g.22590149GT[10], NC_000008.10:g.22590149GT[11], NC_000008.10:g.22590149GT[12], NC_000008.10:g.22590149GT[13], NC_000008.10:g.22590149GT[14], NC_000008.10:g.22590149GT[16], NC_000008.10:g.22590149GT[17], NC_000008.10:g.22590149GT[18], NC_000008.10:g.22590149GT[19]
11.
rs1491396105 has merged into rs34489811 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 8:22772503
(GRCh38)
8:22630016
(GRCh37)
- Canonical SPDI:
- NC_000008.11:22772493:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000008.11:22772493:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000008.11:22772493:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:22772493:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:22772493:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:22772493:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:22772493:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:22772493:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:22772493:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:22772493:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:22772493:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22772493:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22772493:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22772493:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22772493:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22772493:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22772493:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22772493:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22772493:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22772493:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22772493:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- PEBP4 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.254593/1275
(1000Genomes)
- HGVS:
NC_000008.11:g.22772503_22772513del, NC_000008.11:g.22772504_22772513del, NC_000008.11:g.22772505_22772513del, NC_000008.11:g.22772506_22772513del, NC_000008.11:g.22772508_22772513del, NC_000008.11:g.22772509_22772513del, NC_000008.11:g.22772510_22772513del, NC_000008.11:g.22772511_22772513del, NC_000008.11:g.22772512_22772513del, NC_000008.11:g.22772513del, NC_000008.11:g.22772513dup, NC_000008.11:g.22772512_22772513dup, NC_000008.11:g.22772511_22772513dup, NC_000008.11:g.22772510_22772513dup, NC_000008.11:g.22772509_22772513dup, NC_000008.11:g.22772508_22772513dup, NC_000008.11:g.22772507_22772513dup, NC_000008.11:g.22772505_22772513dup, NC_000008.11:g.22772504_22772513dup, NC_000008.11:g.22772503_22772513dup, NC_000008.11:g.22772502_22772513dup, NC_000008.10:g.22630016_22630026del, NC_000008.10:g.22630017_22630026del, NC_000008.10:g.22630018_22630026del, NC_000008.10:g.22630019_22630026del, NC_000008.10:g.22630021_22630026del, NC_000008.10:g.22630022_22630026del, NC_000008.10:g.22630023_22630026del, NC_000008.10:g.22630024_22630026del, NC_000008.10:g.22630025_22630026del, NC_000008.10:g.22630026del, NC_000008.10:g.22630026dup, NC_000008.10:g.22630025_22630026dup, NC_000008.10:g.22630024_22630026dup, NC_000008.10:g.22630023_22630026dup, NC_000008.10:g.22630022_22630026dup, NC_000008.10:g.22630021_22630026dup, NC_000008.10:g.22630020_22630026dup, NC_000008.10:g.22630018_22630026dup, NC_000008.10:g.22630017_22630026dup, NC_000008.10:g.22630016_22630026dup, NC_000008.10:g.22630015_22630026dup
12.
rs1491375956 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AC>-
[Show Flanks]
- Chromosome:
- 8:22713553
(GRCh38)
8:22571066
(GRCh37)
- Canonical SPDI:
- NC_000008.11:22713552:AC:
- Gene:
- PEBP4 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
13.
rs1491363389 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CC>-
[Show Flanks]
- Chromosome:
- 8:22728563
(GRCh38)
8:22586076
(GRCh37)
- Canonical SPDI:
- NC_000008.11:22728562:CC:
- Gene:
- PEBP4 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.01017/168
(TOMMO)
-=0.0126/23
(Korea1K)
-=0.04246/1732
(GnomAD)
- HGVS:
14.
rs1491341594 has merged into rs61162189 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAA>-,A,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA
[Show Flanks]
- Chromosome:
- 8:22860124
(GRCh38)
8:22717637
(GRCh37)
- Canonical SPDI:
- NC_000008.11:22860116:AAAAAAAAAAAAAAAA:AAAAAAA,NC_000008.11:22860116:AAAAAAAAAAAAAAAA:AAAAAAAA,NC_000008.11:22860116:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:22860116:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:22860116:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:22860116:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:22860116:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:22860116:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
- Gene:
- PEBP4 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAA=0./0
(
ALFA)
AA=0.364/1823
(1000Genomes)
- HGVS:
NC_000008.11:g.22860124_22860132del, NC_000008.11:g.22860125_22860132del, NC_000008.11:g.22860128_22860132del, NC_000008.11:g.22860129_22860132del, NC_000008.11:g.22860130_22860132del, NC_000008.11:g.22860131_22860132del, NC_000008.11:g.22860132del, NC_000008.11:g.22860132dup, NC_000008.10:g.22717637_22717645del, NC_000008.10:g.22717638_22717645del, NC_000008.10:g.22717641_22717645del, NC_000008.10:g.22717642_22717645del, NC_000008.10:g.22717643_22717645del, NC_000008.10:g.22717644_22717645del, NC_000008.10:g.22717645del, NC_000008.10:g.22717645dup
16.
rs1491335671 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->GAAAAAAA
[Show Flanks]
- Chromosome:
- 8:22860169
(GRCh38)
8:22717683
(GRCh37)
- Canonical SPDI:
- NC_000008.11:22860169::GAAAAAAA
- Gene:
- PEBP4 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GAAAAAAA=0./0
(
ALFA)
GAAAAAAA=0.00001/1
(GnomAD)
- HGVS:
17.
rs1491300508 has merged into rs59038661 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATGAATGAATGA>-,ATGA,ATGAATGA,ATGAATGAATGAATGA,ATGAATGAATGAATGAATGA,ATGAATGAATGAATGAATGAATGA,ATGAATGAATGAATGAATGAATGAATGA
[Show Flanks]
- Chromosome:
- 8:22805898
(GRCh38)
8:22663411
(GRCh37)
- Canonical SPDI:
- NC_000008.11:22805878:TGAATGAATGAATGAATGAATGAATGAATGA:TGAATGAATGAATGAATGA,NC_000008.11:22805878:TGAATGAATGAATGAATGAATGAATGAATGA:TGAATGAATGAATGAATGAATGA,NC_000008.11:22805878:TGAATGAATGAATGAATGAATGAATGAATGA:TGAATGAATGAATGAATGAATGAATGA,NC_000008.11:22805878:TGAATGAATGAATGAATGAATGAATGAATGA:TGAATGAATGAATGAATGAATGAATGAATGAATGA,NC_000008.11:22805878:TGAATGAATGAATGAATGAATGAATGAATGA:TGAATGAATGAATGAATGAATGAATGAATGAATGAATGA,NC_000008.11:22805878:TGAATGAATGAATGAATGAATGAATGAATGA:TGAATGAATGAATGAATGAATGAATGAATGAATGAATGAATGA,NC_000008.11:22805878:TGAATGAATGAATGAATGAATGAATGAATGA:TGAATGAATGAATGAATGAATGAATGAATGAATGAATGAATGAATGA
- Gene:
- PEBP4 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGAATGAATGAATGAATGAATGA=0.0001/1
(
ALFA)
- HGVS:
NC_000008.11:g.22805882ATGA[4], NC_000008.11:g.22805882ATGA[5], NC_000008.11:g.22805882ATGA[6], NC_000008.11:g.22805882ATGA[8], NC_000008.11:g.22805882ATGA[9], NC_000008.11:g.22805882ATGA[10], NC_000008.11:g.22805882ATGA[11], NC_000008.10:g.22663395ATGA[4], NC_000008.10:g.22663395ATGA[5], NC_000008.10:g.22663395ATGA[6], NC_000008.10:g.22663395ATGA[8], NC_000008.10:g.22663395ATGA[9], NC_000008.10:g.22663395ATGA[10], NC_000008.10:g.22663395ATGA[11]
18.
rs1491279278 has merged into rs60863527 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 8:22887098
(GRCh38)
8:22744611
(GRCh37)
- Canonical SPDI:
- NC_000008.11:22887089:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGT,NC_000008.11:22887089:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGT,NC_000008.11:22887089:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGT,NC_000008.11:22887089:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000008.11:22887089:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000008.11:22887089:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000008.11:22887089:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000008.11:22887089:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:22887089:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:22887089:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:22887089:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:22887089:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:22887089:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:22887089:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:22887089:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:22887089:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:22887089:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:22887089:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:22887089:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- PEBP4 (Varview), LOC101929237 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGT=0./0
(
ALFA)
GT=0.492/2464
(1000Genomes)
- HGVS:
NC_000008.11:g.22887090GT[4], NC_000008.11:g.22887090GT[5], NC_000008.11:g.22887090GT[6], NC_000008.11:g.22887090GT[7], NC_000008.11:g.22887090GT[8], NC_000008.11:g.22887090GT[9], NC_000008.11:g.22887090GT[10], NC_000008.11:g.22887090GT[11], NC_000008.11:g.22887090GT[12], NC_000008.11:g.22887090GT[13], NC_000008.11:g.22887090GT[15], NC_000008.11:g.22887090GT[16], NC_000008.11:g.22887090GT[17], NC_000008.11:g.22887090GT[18], NC_000008.11:g.22887090GT[19], NC_000008.11:g.22887090GT[21], NC_000008.11:g.22887090GT[22], NC_000008.11:g.22887090GT[24], NC_000008.11:g.22887090GT[26], NC_000008.10:g.22744603GT[4], NC_000008.10:g.22744603GT[5], NC_000008.10:g.22744603GT[6], NC_000008.10:g.22744603GT[7], NC_000008.10:g.22744603GT[8], NC_000008.10:g.22744603GT[9], NC_000008.10:g.22744603GT[10], NC_000008.10:g.22744603GT[11], NC_000008.10:g.22744603GT[12], NC_000008.10:g.22744603GT[13], NC_000008.10:g.22744603GT[15], NC_000008.10:g.22744603GT[16], NC_000008.10:g.22744603GT[17], NC_000008.10:g.22744603GT[18], NC_000008.10:g.22744603GT[19], NC_000008.10:g.22744603GT[21], NC_000008.10:g.22744603GT[22], NC_000008.10:g.22744603GT[24], NC_000008.10:g.22744603GT[26], NR_125433.1:n.3391GT[4], NR_125433.1:n.3391GT[5], NR_125433.1:n.3391GT[6], NR_125433.1:n.3391GT[7], NR_125433.1:n.3391GT[8], NR_125433.1:n.3391GT[9], NR_125433.1:n.3391GT[10], NR_125433.1:n.3391GT[11], NR_125433.1:n.3391GT[12], NR_125433.1:n.3391GT[13], NR_125433.1:n.3391GT[15], NR_125433.1:n.3391GT[16], NR_125433.1:n.3391GT[17], NR_125433.1:n.3391GT[18], NR_125433.1:n.3391GT[19], NR_125433.1:n.3391GT[21], NR_125433.1:n.3391GT[22], NR_125433.1:n.3391GT[24], NR_125433.1:n.3391GT[26]
19.
rs1491277954 has merged into rs11356446 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA
[Show Flanks]
- Chromosome:
- 8:22908400
(GRCh38)
8:22765913
(GRCh37)
- Canonical SPDI:
- NC_000008.11:22908393:AAAAAAAAAAA:AAAAAA,NC_000008.11:22908393:AAAAAAAAAAA:AAAAAAA,NC_000008.11:22908393:AAAAAAAAAAA:AAAAAAAA,NC_000008.11:22908393:AAAAAAAAAAA:AAAAAAAAA,NC_000008.11:22908393:AAAAAAAAAAA:AAAAAAAAAA,NC_000008.11:22908393:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:22908393:AAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:22908393:AAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:22908393:AAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:22908393:AAAAAAAAAAA:AAAAAAAAAAAAAAAA
- Gene:
- PEBP4 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAA=0./0
(
ALFA)
A=0.125/1
(KOREAN)
A=0.129669/34322
(TOPMED)
A=0.141374/708
(1000Genomes)
- HGVS:
NC_000008.11:g.22908400_22908404del, NC_000008.11:g.22908401_22908404del, NC_000008.11:g.22908402_22908404del, NC_000008.11:g.22908403_22908404del, NC_000008.11:g.22908404del, NC_000008.11:g.22908404dup, NC_000008.11:g.22908403_22908404dup, NC_000008.11:g.22908402_22908404dup, NC_000008.11:g.22908401_22908404dup, NC_000008.11:g.22908400_22908404dup, NC_000008.10:g.22765913_22765917del, NC_000008.10:g.22765914_22765917del, NC_000008.10:g.22765915_22765917del, NC_000008.10:g.22765916_22765917del, NC_000008.10:g.22765917del, NC_000008.10:g.22765917dup, NC_000008.10:g.22765916_22765917dup, NC_000008.10:g.22765915_22765917dup, NC_000008.10:g.22765914_22765917dup, NC_000008.10:g.22765913_22765917dup
20.
rs1491255710 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TC>-
[Show Flanks]
- Chromosome:
- 8:22940505
(GRCh38)
8:22798018
(GRCh37)
- Canonical SPDI:
- NC_000008.11:22940504:TC:
- Gene:
- PEBP4 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000022/3
(GnomAD)
- HGVS: