Links from Gene
Items: 1 to 20 of 1000
3.
rs1491540505 has merged into rs374305646 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:46890294
(GRCh38)
1:47355966
(GRCh37)
- Canonical SPDI:
- NC_000001.11:46890278:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:46890278:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:46890278:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:46890278:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:46890278:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:46890278:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46890278:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46890278:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46890278:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46890278:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- CYP4Z2P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAA=0./0
(
ALFA)
A=0.1757/880
(1000Genomes)
- HGVS:
NC_000001.11:g.46890294_46890296del, NC_000001.11:g.46890295_46890296del, NC_000001.11:g.46890296del, NC_000001.11:g.46890296dup, NC_000001.11:g.46890295_46890296dup, NC_000001.11:g.46890294_46890296dup, NC_000001.11:g.46890293_46890296dup, NC_000001.11:g.46890290_46890296dup, NC_000001.11:g.46890296_46890297insAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.46890279_46890296A[32]CAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.47355966_47355968del, NC_000001.10:g.47355967_47355968del, NC_000001.10:g.47355968del, NC_000001.10:g.47355968dup, NC_000001.10:g.47355967_47355968dup, NC_000001.10:g.47355966_47355968dup, NC_000001.10:g.47355965_47355968dup, NC_000001.10:g.47355962_47355968dup, NC_000001.10:g.47355968_47355969insAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.47355951_47355968A[32]CAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
4.
rs1491448903 has merged into rs58807102 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAGAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:46867733
(GRCh38)
1:47333405
(GRCh37)
- Canonical SPDI:
- NC_000001.11:46867720:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:46867720:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:46867720:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:46867720:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:46867720:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:46867720:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:46867720:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:46867720:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:46867720:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46867720:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46867720:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46867720:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46867720:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46867720:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46867720:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46867720:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46867720:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46867720:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46867720:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46867720:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46867720:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46867720:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46867720:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46867720:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46867720:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46867720:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46867720:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46867720:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46867720:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46867720:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAA
- Gene:
- CYP4Z2P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
-=0.0032/16
(1000Genomes)
- HGVS:
NC_000001.11:g.46867733_46867735del, NC_000001.11:g.46867734_46867735del, NC_000001.11:g.46867735del, NC_000001.11:g.46867735dup, NC_000001.11:g.46867734_46867735dup, NC_000001.11:g.46867733_46867735dup, NC_000001.11:g.46867732_46867735dup, NC_000001.11:g.46867731_46867735dup, NC_000001.11:g.46867730_46867735dup, NC_000001.11:g.46867729_46867735dup, NC_000001.11:g.46867728_46867735dup, NC_000001.11:g.46867727_46867735dup, NC_000001.11:g.46867726_46867735dup, NC_000001.11:g.46867725_46867735dup, NC_000001.11:g.46867724_46867735dup, NC_000001.11:g.46867723_46867735dup, NC_000001.11:g.46867722_46867735dup, NC_000001.11:g.46867721_46867735dup, NC_000001.11:g.46867735_46867736insAAAAAAAAAAAAAAAA, NC_000001.11:g.46867735_46867736insAAAAAAAAAAAAAAAAA, NC_000001.11:g.46867735_46867736insAAAAAAAAAAAAAAAAAA, NC_000001.11:g.46867735_46867736insAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.46867735_46867736insAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.46867735_46867736insAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.46867735_46867736insAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.46867735_46867736insAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.46867735_46867736insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.46867735_46867736insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.46867735_46867736insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.46867721_46867735A[18]GAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.47333405_47333407del, NC_000001.10:g.47333406_47333407del, NC_000001.10:g.47333407del, NC_000001.10:g.47333407dup, NC_000001.10:g.47333406_47333407dup, NC_000001.10:g.47333405_47333407dup, NC_000001.10:g.47333404_47333407dup, NC_000001.10:g.47333403_47333407dup, NC_000001.10:g.47333402_47333407dup, NC_000001.10:g.47333401_47333407dup, NC_000001.10:g.47333400_47333407dup, NC_000001.10:g.47333399_47333407dup, NC_000001.10:g.47333398_47333407dup, NC_000001.10:g.47333397_47333407dup, NC_000001.10:g.47333396_47333407dup, NC_000001.10:g.47333395_47333407dup, NC_000001.10:g.47333394_47333407dup, NC_000001.10:g.47333393_47333407dup, NC_000001.10:g.47333407_47333408insAAAAAAAAAAAAAAAA, NC_000001.10:g.47333407_47333408insAAAAAAAAAAAAAAAAA, NC_000001.10:g.47333407_47333408insAAAAAAAAAAAAAAAAAA, NC_000001.10:g.47333407_47333408insAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.47333407_47333408insAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.47333407_47333408insAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.47333407_47333408insAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.47333407_47333408insAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.47333407_47333408insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.47333407_47333408insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.47333407_47333408insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.47333393_47333407A[18]GAAAAAAAAAAAAAAAAA[1]
5.
rs1491427883 has merged into rs1180883650 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:46852643
(GRCh38)
1:47318315
(GRCh37)
- Canonical SPDI:
- NC_000001.11:46852633:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:46852633:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:46852633:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:46852633:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:46852633:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:46852633:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:46852633:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:46852633:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:46852633:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:46852633:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:46852633:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:46852633:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:46852633:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46852633:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46852633:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46852633:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46852633:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46852633:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46852633:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46852633:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46852633:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46852633:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46852633:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46852633:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46852633:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46852633:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46852633:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46852633:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46852633:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46852633:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46852633:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46852633:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46852633:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46852633:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46852633:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46852633:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46852633:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46852633:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46852633:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46852633:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46852633:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46852633:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46852633:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46852633:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46852633:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46852633:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46852633:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46852633:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46852633:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46852633:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46852633:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46852633:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46852633:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46852633:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46852633:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46852633:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46852633:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- CYP4Z2P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000001.11:g.46852643_46852656del, NC_000001.11:g.46852644_46852656del, NC_000001.11:g.46852645_46852656del, NC_000001.11:g.46852646_46852656del, NC_000001.11:g.46852647_46852656del, NC_000001.11:g.46852648_46852656del, NC_000001.11:g.46852649_46852656del, NC_000001.11:g.46852650_46852656del, NC_000001.11:g.46852651_46852656del, NC_000001.11:g.46852652_46852656del, NC_000001.11:g.46852653_46852656del, NC_000001.11:g.46852654_46852656del, NC_000001.11:g.46852655_46852656del, NC_000001.11:g.46852656del, NC_000001.11:g.46852656dup, NC_000001.11:g.46852655_46852656dup, NC_000001.11:g.46852654_46852656dup, NC_000001.11:g.46852653_46852656dup, NC_000001.11:g.46852652_46852656dup, NC_000001.11:g.46852651_46852656dup, NC_000001.11:g.46852650_46852656dup, NC_000001.11:g.46852649_46852656dup, NC_000001.11:g.46852648_46852656dup, NC_000001.11:g.46852647_46852656dup, NC_000001.11:g.46852646_46852656dup, NC_000001.11:g.46852645_46852656dup, NC_000001.11:g.46852644_46852656dup, NC_000001.11:g.46852643_46852656dup, NC_000001.11:g.46852642_46852656dup, NC_000001.11:g.46852641_46852656dup, NC_000001.11:g.46852640_46852656dup, NC_000001.11:g.46852639_46852656dup, NC_000001.11:g.46852638_46852656dup, NC_000001.11:g.46852637_46852656dup, NC_000001.11:g.46852636_46852656dup, NC_000001.11:g.46852635_46852656dup, NC_000001.11:g.46852634_46852656dup, NC_000001.11:g.46852656_46852657insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.46852656_46852657insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.46852656_46852657insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.46852656_46852657insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.46852656_46852657insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.46852656_46852657insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.46852656_46852657insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.46852656_46852657insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.46852656_46852657insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.46852656_46852657insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.46852656_46852657insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.46852656_46852657insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.46852634_46852656A[35]TAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.11:g.46852634_46852656A[34]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.11:g.46852634_46852656A[28]GAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.11:g.46852634_46852656A[25]GAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.11:g.46852634_46852656A[25]GAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.11:g.46852634_46852656A[24]GAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.11:g.46852634_46852656A[24]GAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.11:g.46852634_46852656A[24]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.47318315_47318328del, NC_000001.10:g.47318316_47318328del, NC_000001.10:g.47318317_47318328del, NC_000001.10:g.47318318_47318328del, NC_000001.10:g.47318319_47318328del, NC_000001.10:g.47318320_47318328del, NC_000001.10:g.47318321_47318328del, NC_000001.10:g.47318322_47318328del, NC_000001.10:g.47318323_47318328del, NC_000001.10:g.47318324_47318328del, NC_000001.10:g.47318325_47318328del, NC_000001.10:g.47318326_47318328del, NC_000001.10:g.47318327_47318328del, NC_000001.10:g.47318328del, NC_000001.10:g.47318328dup, NC_000001.10:g.47318327_47318328dup, NC_000001.10:g.47318326_47318328dup, NC_000001.10:g.47318325_47318328dup, NC_000001.10:g.47318324_47318328dup, NC_000001.10:g.47318323_47318328dup, NC_000001.10:g.47318322_47318328dup, NC_000001.10:g.47318321_47318328dup, NC_000001.10:g.47318320_47318328dup, NC_000001.10:g.47318319_47318328dup, NC_000001.10:g.47318318_47318328dup, NC_000001.10:g.47318317_47318328dup, NC_000001.10:g.47318316_47318328dup, NC_000001.10:g.47318315_47318328dup, NC_000001.10:g.47318314_47318328dup, NC_000001.10:g.47318313_47318328dup, NC_000001.10:g.47318312_47318328dup, NC_000001.10:g.47318311_47318328dup, NC_000001.10:g.47318310_47318328dup, NC_000001.10:g.47318309_47318328dup, NC_000001.10:g.47318308_47318328dup, NC_000001.10:g.47318307_47318328dup, NC_000001.10:g.47318306_47318328dup, NC_000001.10:g.47318328_47318329insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.47318328_47318329insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.47318328_47318329insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.47318328_47318329insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.47318328_47318329insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.47318328_47318329insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.47318328_47318329insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.47318328_47318329insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.47318328_47318329insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.47318328_47318329insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.47318328_47318329insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.47318328_47318329insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.47318306_47318328A[35]TAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.47318306_47318328A[34]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.47318306_47318328A[28]GAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.47318306_47318328A[25]GAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.47318306_47318328A[25]GAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.47318306_47318328A[24]GAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.47318306_47318328A[24]GAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.47318306_47318328A[24]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
8.
rs1491206476 has merged into rs550571037 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAA>-,A,AAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:46851184
(GRCh38)
1:47316856
(GRCh37)
- Canonical SPDI:
- NC_000001.11:46851172:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:46851172:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:46851172:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:46851172:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:46851172:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:46851172:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:46851172:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:46851172:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46851172:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46851172:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46851172:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46851172:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46851172:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46851172:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46851172:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46851172:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46851172:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46851172:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46851172:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46851172:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:46851172:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- CYP4Z2P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
-=0.00003/8
(TOPMED)
-=0.19389/971
(1000Genomes)
- HGVS:
NC_000001.11:g.46851184_46851195del, NC_000001.11:g.46851185_46851195del, NC_000001.11:g.46851187_46851195del, NC_000001.11:g.46851189_46851195del, NC_000001.11:g.46851191_46851195del, NC_000001.11:g.46851192_46851195del, NC_000001.11:g.46851193_46851195del, NC_000001.11:g.46851194_46851195del, NC_000001.11:g.46851195del, NC_000001.11:g.46851195dup, NC_000001.11:g.46851194_46851195dup, NC_000001.11:g.46851193_46851195dup, NC_000001.11:g.46851192_46851195dup, NC_000001.11:g.46851191_46851195dup, NC_000001.11:g.46851190_46851195dup, NC_000001.11:g.46851189_46851195dup, NC_000001.11:g.46851188_46851195dup, NC_000001.11:g.46851187_46851195dup, NC_000001.11:g.46851186_46851195dup, NC_000001.11:g.46851185_46851195dup, NC_000001.11:g.46851178_46851195dup, NC_000001.10:g.47316856_47316867del, NC_000001.10:g.47316857_47316867del, NC_000001.10:g.47316859_47316867del, NC_000001.10:g.47316861_47316867del, NC_000001.10:g.47316863_47316867del, NC_000001.10:g.47316864_47316867del, NC_000001.10:g.47316865_47316867del, NC_000001.10:g.47316866_47316867del, NC_000001.10:g.47316867del, NC_000001.10:g.47316867dup, NC_000001.10:g.47316866_47316867dup, NC_000001.10:g.47316865_47316867dup, NC_000001.10:g.47316864_47316867dup, NC_000001.10:g.47316863_47316867dup, NC_000001.10:g.47316862_47316867dup, NC_000001.10:g.47316861_47316867dup, NC_000001.10:g.47316860_47316867dup, NC_000001.10:g.47316859_47316867dup, NC_000001.10:g.47316858_47316867dup, NC_000001.10:g.47316857_47316867dup, NC_000001.10:g.47316850_47316867dup
10.
rs1491048898 has merged into rs56272454 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 1:46899499
(GRCh38)
1:47365171
(GRCh37)
- Canonical SPDI:
- NC_000001.11:46899488:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:46899488:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:46899488:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:46899488:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:46899488:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:46899488:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:46899488:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:46899488:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:46899488:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:46899488:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:46899488:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:46899488:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:46899488:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:46899488:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:46899488:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:46899488:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:46899488:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:46899488:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:46899488:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:46899488:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:46899488:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:46899488:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:46899488:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:46899488:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:46899488:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:46899488:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:46899488:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:46899488:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:46899488:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:46899488:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- CYP4Z2P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000001.11:g.46899499_46899512del, NC_000001.11:g.46899501_46899512del, NC_000001.11:g.46899502_46899512del, NC_000001.11:g.46899503_46899512del, NC_000001.11:g.46899504_46899512del, NC_000001.11:g.46899505_46899512del, NC_000001.11:g.46899506_46899512del, NC_000001.11:g.46899507_46899512del, NC_000001.11:g.46899508_46899512del, NC_000001.11:g.46899509_46899512del, NC_000001.11:g.46899510_46899512del, NC_000001.11:g.46899511_46899512del, NC_000001.11:g.46899512del, NC_000001.11:g.46899512dup, NC_000001.11:g.46899511_46899512dup, NC_000001.11:g.46899510_46899512dup, NC_000001.11:g.46899509_46899512dup, NC_000001.11:g.46899508_46899512dup, NC_000001.11:g.46899507_46899512dup, NC_000001.11:g.46899505_46899512dup, NC_000001.11:g.46899504_46899512dup, NC_000001.11:g.46899503_46899512dup, NC_000001.11:g.46899502_46899512dup, NC_000001.11:g.46899501_46899512dup, NC_000001.11:g.46899500_46899512dup, NC_000001.11:g.46899498_46899512dup, NC_000001.11:g.46899497_46899512dup, NC_000001.11:g.46899495_46899512dup, NC_000001.11:g.46899493_46899512dup, NC_000001.11:g.46899490_46899512dup, NC_000001.10:g.47365171_47365184del, NC_000001.10:g.47365173_47365184del, NC_000001.10:g.47365174_47365184del, NC_000001.10:g.47365175_47365184del, NC_000001.10:g.47365176_47365184del, NC_000001.10:g.47365177_47365184del, NC_000001.10:g.47365178_47365184del, NC_000001.10:g.47365179_47365184del, NC_000001.10:g.47365180_47365184del, NC_000001.10:g.47365181_47365184del, NC_000001.10:g.47365182_47365184del, NC_000001.10:g.47365183_47365184del, NC_000001.10:g.47365184del, NC_000001.10:g.47365184dup, NC_000001.10:g.47365183_47365184dup, NC_000001.10:g.47365182_47365184dup, NC_000001.10:g.47365181_47365184dup, NC_000001.10:g.47365180_47365184dup, NC_000001.10:g.47365179_47365184dup, NC_000001.10:g.47365177_47365184dup, NC_000001.10:g.47365176_47365184dup, NC_000001.10:g.47365175_47365184dup, NC_000001.10:g.47365174_47365184dup, NC_000001.10:g.47365173_47365184dup, NC_000001.10:g.47365172_47365184dup, NC_000001.10:g.47365170_47365184dup, NC_000001.10:g.47365169_47365184dup, NC_000001.10:g.47365167_47365184dup, NC_000001.10:g.47365165_47365184dup, NC_000001.10:g.47365162_47365184dup
11.
rs1491029914 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 1:46890297
(GRCh38)
1:47355969
(GRCh37)
- Canonical SPDI:
- NC_000001.11:46890295:AGA:A
- Gene:
- CYP4Z2P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000337/4
(
ALFA)
-=0.00005/7
(GnomAD)
- HGVS:
12.
rs1491000637 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:46897089
(GRCh38)
1:47362761
(GRCh37)
- Canonical SPDI:
- NC_000001.11:46897088:G:C
- Gene:
- CYP4Z2P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000024/3
(GnomAD)
- HGVS:
13.
rs1490968248 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 1:46878715
(GRCh38)
1:47344387
(GRCh37)
- Canonical SPDI:
- NC_000001.11:46878714:G:T
- Gene:
- CYP4Z2P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
15.
rs1490820338 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 1:46853756
(GRCh38)
1:47319428
(GRCh37)
- Canonical SPDI:
- NC_000001.11:46853755:A:C,NC_000001.11:46853755:A:G
- Gene:
- CYP4Z2P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000036/5
(GnomAD)
- HGVS:
16.
rs1490816143 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 1:46854768
(GRCh38)
1:47320440
(GRCh37)
- Canonical SPDI:
- NC_000001.11:46854767:T:A
- Gene:
- CYP4Z2P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
17.
rs1490787408 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:46870103
(GRCh38)
1:47335775
(GRCh37)
- Canonical SPDI:
- NC_000001.11:46870102:A:G
- Gene:
- CYP4Z2P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
18.
rs1490683332 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:46885126
(GRCh38)
1:47350798
(GRCh37)
- Canonical SPDI:
- NC_000001.11:46885125:T:C
- Gene:
- CYP4Z2P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000026/7
(TOPMED)
- HGVS:
19.
rs1490676043 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 1:46853194
(GRCh38)
1:47318866
(GRCh37)
- Canonical SPDI:
- NC_000001.11:46853193:TTTTT:TTTT
- Gene:
- CYP4Z2P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTT=0./0
(
ALFA)
-=0.000014/2
(GnomAD)
-=0.000057/15
(TOPMED)
- HGVS:
20.
rs1490609996 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:46881070
(GRCh38)
1:47346742
(GRCh37)
- Canonical SPDI:
- NC_000001.11:46881069:G:C
- Gene:
- CYP4Z2P (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: