Links from Gene
Items: 1 to 20 of 6180
2.
rs1491458536 has merged into rs1015753214 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-,TT
[Show Flanks]
- Chromosome:
- 19:50071116
(GRCh38)
19:50574373
(GRCh37)
- Canonical SPDI:
- NC_000019.10:50071115:TTTTTTTT:TTTTTTT,NC_000019.10:50071115:TTTTTTTT:TTTTTTTTT
- Gene:
- ZNF473CR (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTT=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
4.
rs1491336325 has merged into rs36092598 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 19:50074072
(GRCh38)
19:50577329
(GRCh37)
- Canonical SPDI:
- NC_000019.10:50074062:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000019.10:50074062:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:50074062:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:50074062:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:50074062:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:50074062:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:50074062:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:50074062:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:50074062:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:50074062:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:50074062:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:50074062:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:50074062:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50074062:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50074062:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50074062:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50074062:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50074062:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50074062:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50074062:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50074062:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50074062:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50074062:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50074062:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50074062:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50074062:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50074062:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50074062:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50074062:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50074062:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50074062:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50074062:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50074062:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50074062:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50074062:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ZNF473CR (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
- HGVS:
NC_000019.10:g.50074072_50074087del, NC_000019.10:g.50074073_50074087del, NC_000019.10:g.50074074_50074087del, NC_000019.10:g.50074075_50074087del, NC_000019.10:g.50074076_50074087del, NC_000019.10:g.50074077_50074087del, NC_000019.10:g.50074078_50074087del, NC_000019.10:g.50074079_50074087del, NC_000019.10:g.50074080_50074087del, NC_000019.10:g.50074081_50074087del, NC_000019.10:g.50074082_50074087del, NC_000019.10:g.50074083_50074087del, NC_000019.10:g.50074084_50074087del, NC_000019.10:g.50074085_50074087del, NC_000019.10:g.50074086_50074087del, NC_000019.10:g.50074087del, NC_000019.10:g.50074087dup, NC_000019.10:g.50074086_50074087dup, NC_000019.10:g.50074085_50074087dup, NC_000019.10:g.50074084_50074087dup, NC_000019.10:g.50074083_50074087dup, NC_000019.10:g.50074082_50074087dup, NC_000019.10:g.50074081_50074087dup, NC_000019.10:g.50074080_50074087dup, NC_000019.10:g.50074079_50074087dup, NC_000019.10:g.50074078_50074087dup, NC_000019.10:g.50074077_50074087dup, NC_000019.10:g.50074076_50074087dup, NC_000019.10:g.50074075_50074087dup, NC_000019.10:g.50074074_50074087dup, NC_000019.10:g.50074072_50074087dup, NC_000019.10:g.50074070_50074087dup, NC_000019.10:g.50074068_50074087dup, NC_000019.10:g.50074064_50074087dup, NC_000019.10:g.50074063_50074087dup, NC_000019.9:g.50577329_50577344del, NC_000019.9:g.50577330_50577344del, NC_000019.9:g.50577331_50577344del, NC_000019.9:g.50577332_50577344del, NC_000019.9:g.50577333_50577344del, NC_000019.9:g.50577334_50577344del, NC_000019.9:g.50577335_50577344del, NC_000019.9:g.50577336_50577344del, NC_000019.9:g.50577337_50577344del, NC_000019.9:g.50577338_50577344del, NC_000019.9:g.50577339_50577344del, NC_000019.9:g.50577340_50577344del, NC_000019.9:g.50577341_50577344del, NC_000019.9:g.50577342_50577344del, NC_000019.9:g.50577343_50577344del, NC_000019.9:g.50577344del, NC_000019.9:g.50577344dup, NC_000019.9:g.50577343_50577344dup, NC_000019.9:g.50577342_50577344dup, NC_000019.9:g.50577341_50577344dup, NC_000019.9:g.50577340_50577344dup, NC_000019.9:g.50577339_50577344dup, NC_000019.9:g.50577338_50577344dup, NC_000019.9:g.50577337_50577344dup, NC_000019.9:g.50577336_50577344dup, NC_000019.9:g.50577335_50577344dup, NC_000019.9:g.50577334_50577344dup, NC_000019.9:g.50577333_50577344dup, NC_000019.9:g.50577332_50577344dup, NC_000019.9:g.50577331_50577344dup, NC_000019.9:g.50577329_50577344dup, NC_000019.9:g.50577327_50577344dup, NC_000019.9:g.50577325_50577344dup, NC_000019.9:g.50577321_50577344dup, NC_000019.9:g.50577320_50577344dup
5.
rs1491279464 has merged into rs930964909 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 19:50055707
(GRCh38)
19:50558964
(GRCh37)
- Canonical SPDI:
- NC_000019.10:50055694:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:50055694:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:50055694:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:50055694:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:50055694:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:50055694:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:50055694:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:50055694:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50055694:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50055694:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50055694:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50055694:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50055694:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50055694:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50055694:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50055694:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50055694:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50055694:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50055694:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ZNF473CR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000019.10:g.50055707_50055719del, NC_000019.10:g.50055708_50055719del, NC_000019.10:g.50055709_50055719del, NC_000019.10:g.50055711_50055719del, NC_000019.10:g.50055712_50055719del, NC_000019.10:g.50055713_50055719del, NC_000019.10:g.50055715_50055719del, NC_000019.10:g.50055716_50055719del, NC_000019.10:g.50055717_50055719del, NC_000019.10:g.50055718_50055719del, NC_000019.10:g.50055719del, NC_000019.10:g.50055719dup, NC_000019.10:g.50055718_50055719dup, NC_000019.10:g.50055717_50055719dup, NC_000019.10:g.50055715_50055719dup, NC_000019.10:g.50055714_50055719dup, NC_000019.10:g.50055713_50055719dup, NC_000019.10:g.50055712_50055719dup, NC_000019.10:g.50055709_50055719dup, NC_000019.9:g.50558964_50558976del, NC_000019.9:g.50558965_50558976del, NC_000019.9:g.50558966_50558976del, NC_000019.9:g.50558968_50558976del, NC_000019.9:g.50558969_50558976del, NC_000019.9:g.50558970_50558976del, NC_000019.9:g.50558972_50558976del, NC_000019.9:g.50558973_50558976del, NC_000019.9:g.50558974_50558976del, NC_000019.9:g.50558975_50558976del, NC_000019.9:g.50558976del, NC_000019.9:g.50558976dup, NC_000019.9:g.50558975_50558976dup, NC_000019.9:g.50558974_50558976dup, NC_000019.9:g.50558972_50558976dup, NC_000019.9:g.50558971_50558976dup, NC_000019.9:g.50558970_50558976dup, NC_000019.9:g.50558969_50558976dup, NC_000019.9:g.50558966_50558976dup
6.
rs1491246610 has merged into rs79538334 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT,TTTTTTTT
[Show Flanks]
- Chromosome:
- 19:50061639
(GRCh38)
19:50564896
(GRCh37)
- Canonical SPDI:
- NC_000019.10:50061625:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:50061625:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:50061625:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:50061625:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:50061625:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
- Gene:
- ZNF473CR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.06333/38
(NorthernSweden)
-=0.275/11
(GENOME_DK)
-=0.32149/1610
(1000Genomes)
- HGVS:
7.
rs1491233648 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 19:50069326
(GRCh38)
19:50572583
(GRCh37)
- Canonical SPDI:
- NC_000019.10:50069324:AGA:A
- Gene:
- ZNF473CR (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
-=0.000022/3
(GnomAD)
- HGVS:
8.
rs1491186275 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 19:50055694
(GRCh38)
19:50558951
(GRCh37)
- Canonical SPDI:
- NC_000019.10:50055693:CA:
- Gene:
- ZNF473CR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.00017/2
(
ALFA)
-=0.00234/65
(TOMMO)
- HGVS:
9.
rs1491157923 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 19:50069325
(GRCh38)
19:50572583
(GRCh37)
- Canonical SPDI:
- NC_000019.10:50069325::T
- Gene:
- ZNF473CR (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000022/3
(GnomAD)
- HGVS:
10.
rs1490962518 has merged into rs1164508566 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 19:50057706
(GRCh38)
19:50560963
(GRCh37)
- Canonical SPDI:
- NC_000019.10:50057692:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:50057692:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:50057692:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:50057692:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:50057692:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:50057692:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:50057692:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:50057692:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50057692:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50057692:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50057692:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50057692:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50057692:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50057692:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50057692:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50057692:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50057692:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50057692:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50057692:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50057692:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50057692:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50057692:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50057692:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50057692:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50057692:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50057692:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50057692:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50057692:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50057692:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50057692:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50057692:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50057692:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50057692:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50057692:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50057692:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50057692:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50057692:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50057692:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50057692:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50057692:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50057692:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50057692:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50057692:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50057692:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50057692:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50057692:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50057692:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50057692:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50057692:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50057692:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50057692:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50057692:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ZNF473CR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000019.10:g.50057706_50057721del, NC_000019.10:g.50057707_50057721del, NC_000019.10:g.50057709_50057721del, NC_000019.10:g.50057710_50057721del, NC_000019.10:g.50057711_50057721del, NC_000019.10:g.50057712_50057721del, NC_000019.10:g.50057713_50057721del, NC_000019.10:g.50057714_50057721del, NC_000019.10:g.50057715_50057721del, NC_000019.10:g.50057716_50057721del, NC_000019.10:g.50057717_50057721del, NC_000019.10:g.50057718_50057721del, NC_000019.10:g.50057719_50057721del, NC_000019.10:g.50057720_50057721del, NC_000019.10:g.50057721del, NC_000019.10:g.50057721dup, NC_000019.10:g.50057720_50057721dup, NC_000019.10:g.50057719_50057721dup, NC_000019.10:g.50057718_50057721dup, NC_000019.10:g.50057717_50057721dup, NC_000019.10:g.50057716_50057721dup, NC_000019.10:g.50057715_50057721dup, NC_000019.10:g.50057714_50057721dup, NC_000019.10:g.50057713_50057721dup, NC_000019.10:g.50057712_50057721dup, NC_000019.10:g.50057710_50057721dup, NC_000019.10:g.50057709_50057721dup, NC_000019.10:g.50057706_50057721dup, NC_000019.10:g.50057705_50057721dup, NC_000019.10:g.50057704_50057721dup, NC_000019.10:g.50057703_50057721dup, NC_000019.10:g.50057702_50057721dup, NC_000019.10:g.50057701_50057721dup, NC_000019.10:g.50057700_50057721dup, NC_000019.10:g.50057699_50057721dup, NC_000019.10:g.50057698_50057721dup, NC_000019.10:g.50057697_50057721dup, NC_000019.10:g.50057696_50057721dup, NC_000019.10:g.50057694_50057721dup, NC_000019.10:g.50057693_50057721dup, NC_000019.10:g.50057721_50057722insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.50057721_50057722insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.50057721_50057722insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.50057721_50057722insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.50057721_50057722insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.50057721_50057722insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.50057721_50057722insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.50057721_50057722insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.50057721_50057722insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.50057721_50057722insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.50057721_50057722insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.50057693_50057721A[34]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000019.9:g.50560963_50560978del, NC_000019.9:g.50560964_50560978del, NC_000019.9:g.50560966_50560978del, NC_000019.9:g.50560967_50560978del, NC_000019.9:g.50560968_50560978del, NC_000019.9:g.50560969_50560978del, NC_000019.9:g.50560970_50560978del, NC_000019.9:g.50560971_50560978del, NC_000019.9:g.50560972_50560978del, NC_000019.9:g.50560973_50560978del, NC_000019.9:g.50560974_50560978del, NC_000019.9:g.50560975_50560978del, NC_000019.9:g.50560976_50560978del, NC_000019.9:g.50560977_50560978del, NC_000019.9:g.50560978del, NC_000019.9:g.50560978dup, NC_000019.9:g.50560977_50560978dup, NC_000019.9:g.50560976_50560978dup, NC_000019.9:g.50560975_50560978dup, NC_000019.9:g.50560974_50560978dup, NC_000019.9:g.50560973_50560978dup, NC_000019.9:g.50560972_50560978dup, NC_000019.9:g.50560971_50560978dup, NC_000019.9:g.50560970_50560978dup, NC_000019.9:g.50560969_50560978dup, NC_000019.9:g.50560967_50560978dup, NC_000019.9:g.50560966_50560978dup, NC_000019.9:g.50560963_50560978dup, NC_000019.9:g.50560962_50560978dup, NC_000019.9:g.50560961_50560978dup, NC_000019.9:g.50560960_50560978dup, NC_000019.9:g.50560959_50560978dup, NC_000019.9:g.50560958_50560978dup, NC_000019.9:g.50560957_50560978dup, NC_000019.9:g.50560956_50560978dup, NC_000019.9:g.50560955_50560978dup, NC_000019.9:g.50560954_50560978dup, NC_000019.9:g.50560953_50560978dup, NC_000019.9:g.50560951_50560978dup, NC_000019.9:g.50560950_50560978dup, NC_000019.9:g.50560978_50560979insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.50560978_50560979insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.50560978_50560979insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.50560978_50560979insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.50560978_50560979insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.50560978_50560979insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.50560978_50560979insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.50560978_50560979insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.50560978_50560979insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.50560978_50560979insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.50560978_50560979insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.50560950_50560978A[34]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
12.
rs1490656751 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 19:50072902
(GRCh38)
19:50576159
(GRCh37)
- Canonical SPDI:
- NC_000019.10:50072901:A:T
- Gene:
- ZNF473CR (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
13.
rs1490549612 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 19:50072011
(GRCh38)
19:50575268
(GRCh37)
- Canonical SPDI:
- NC_000019.10:50072010:T:G
- Gene:
- ZNF473CR (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000015/4
(TOPMED)
- HGVS:
14.
rs1490473874 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:50064734
(GRCh38)
19:50567991
(GRCh37)
- Canonical SPDI:
- NC_000019.10:50064733:A:G
- Gene:
- ZNF473CR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
15.
rs1490447706 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 19:50065728
(GRCh38)
19:50568985
(GRCh37)
- Canonical SPDI:
- NC_000019.10:50065727:G:A,NC_000019.10:50065727:G:C
- Gene:
- ZNF473CR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.00046/8
(TOMMO)
- HGVS:
16.
rs1490430692 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 19:50049644
(GRCh38)
19:50552901
(GRCh37)
- Canonical SPDI:
- NC_000019.10:50049643:G:C,NC_000019.10:50049643:G:T
- Gene:
- ZNF473CR (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
17.
rs1490252961 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 19:50058744
(GRCh38)
19:50562001
(GRCh37)
- Canonical SPDI:
- NC_000019.10:50058743:G:T
- Gene:
- ZNF473CR (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.
rs1490248763 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:50068713
(GRCh38)
19:50571970
(GRCh37)
- Canonical SPDI:
- NC_000019.10:50068712:C:T
- Gene:
- ZNF473CR (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000084/1
(
ALFA)
T=0.000029/4
(GnomAD)
T=0.000083/22
(TOPMED)
- HGVS:
19.
rs1490147873 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 19:50065607
(GRCh38)
19:50568864
(GRCh37)
- Canonical SPDI:
- NC_000019.10:50065606:T:G
- Gene:
- ZNF473CR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
20.
rs1490122110 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:50066686
(GRCh38)
19:50569943
(GRCh37)
- Canonical SPDI:
- NC_000019.10:50066685:A:G
- Gene:
- ZNF473CR (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS: