Links from Gene
Items: 1 to 20 of 10932
2.
rs1491550945 has merged into rs113156661 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 14:73927100
(GRCh38)
14:74393803
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73927089:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000014.9:73927089:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:73927089:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:73927089:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:73927089:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:73927089:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:73927089:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:73927089:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ZNF410 (Varview), FAM161B (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
-=0.3826/544
(1000Genomes)
- HGVS:
NC_000014.9:g.73927100_73927103del, NC_000014.9:g.73927101_73927103del, NC_000014.9:g.73927102_73927103del, NC_000014.9:g.73927103del, NC_000014.9:g.73927103dup, NC_000014.9:g.73927102_73927103dup, NC_000014.9:g.73927101_73927103dup, NC_000014.9:g.73927093_73927103dup, NC_000014.8:g.74393803_74393806del, NC_000014.8:g.74393804_74393806del, NC_000014.8:g.74393805_74393806del, NC_000014.8:g.74393806del, NC_000014.8:g.74393806dup, NC_000014.8:g.74393805_74393806dup, NC_000014.8:g.74393804_74393806dup, NC_000014.8:g.74393796_74393806dup
5.
rs1491420464 has merged into rs34227581 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GG>-,G,GGG,GGGG,GGGGG,GGGGGG
[Show Flanks]
- Chromosome:
- 14:73909615
(GRCh38)
14:74376318
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73909607:GGGGGGGGG:GGGGGGG,NC_000014.9:73909607:GGGGGGGGG:GGGGGGGG,NC_000014.9:73909607:GGGGGGGGG:GGGGGGGGGG,NC_000014.9:73909607:GGGGGGGGG:GGGGGGGGGGG,NC_000014.9:73909607:GGGGGGGGG:GGGGGGGGGGGG,NC_000014.9:73909607:GGGGGGGGG:GGGGGGGGGGGGG
- Gene:
- ZNF410 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGGGGGGGGGG=0./0
(
ALFA)
-=0.126/631
(1000Genomes)
- HGVS:
NC_000014.9:g.73909615_73909616del, NC_000014.9:g.73909616del, NC_000014.9:g.73909616dup, NC_000014.9:g.73909615_73909616dup, NC_000014.9:g.73909614_73909616dup, NC_000014.9:g.73909613_73909616dup, NC_000014.8:g.74376318_74376319del, NC_000014.8:g.74376319del, NC_000014.8:g.74376319dup, NC_000014.8:g.74376318_74376319dup, NC_000014.8:g.74376317_74376319dup, NC_000014.8:g.74376316_74376319dup
6.
rs1491402333 has merged into rs34162465 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,T,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 14:73912178
(GRCh38)
14:74378881
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73912169:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000014.9:73912169:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000014.9:73912169:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:73912169:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:73912169:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:73912169:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:73912169:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:73912169:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:73912169:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:73912169:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:73912169:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:73912169:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:73912169:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:73912169:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:73912169:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:73912169:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ZNF410 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTT=0./0
(
ALFA)
T=0.3005/1505
(1000Genomes)
- HGVS:
NC_000014.9:g.73912178_73912189del, NC_000014.9:g.73912179_73912189del, NC_000014.9:g.73912182_73912189del, NC_000014.9:g.73912183_73912189del, NC_000014.9:g.73912184_73912189del, NC_000014.9:g.73912185_73912189del, NC_000014.9:g.73912186_73912189del, NC_000014.9:g.73912187_73912189del, NC_000014.9:g.73912188_73912189del, NC_000014.9:g.73912189del, NC_000014.9:g.73912189dup, NC_000014.9:g.73912188_73912189dup, NC_000014.9:g.73912187_73912189dup, NC_000014.9:g.73912186_73912189dup, NC_000014.9:g.73912185_73912189dup, NC_000014.9:g.73912184_73912189dup, NC_000014.8:g.74378881_74378892del, NC_000014.8:g.74378882_74378892del, NC_000014.8:g.74378885_74378892del, NC_000014.8:g.74378886_74378892del, NC_000014.8:g.74378887_74378892del, NC_000014.8:g.74378888_74378892del, NC_000014.8:g.74378889_74378892del, NC_000014.8:g.74378890_74378892del, NC_000014.8:g.74378891_74378892del, NC_000014.8:g.74378892del, NC_000014.8:g.74378892dup, NC_000014.8:g.74378891_74378892dup, NC_000014.8:g.74378890_74378892dup, NC_000014.8:g.74378889_74378892dup, NC_000014.8:g.74378888_74378892dup, NC_000014.8:g.74378887_74378892dup
7.
rs1491342310 has merged into rs71115932 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 14:73918695
(GRCh38)
14:74385398
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73918686:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000014.9:73918686:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000014.9:73918686:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:73918686:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:73918686:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:73918686:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:73918686:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:73918686:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:73918686:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:73918686:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:73918686:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:73918686:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:73918686:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:73918686:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:73918686:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:73918686:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:73918686:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:73918686:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:73918686:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:73918686:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:73918686:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:73918686:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:73918686:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:73918686:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:73918686:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ZNF410 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000014.9:g.73918695_73918714del, NC_000014.9:g.73918697_73918714del, NC_000014.9:g.73918698_73918714del, NC_000014.9:g.73918699_73918714del, NC_000014.9:g.73918700_73918714del, NC_000014.9:g.73918701_73918714del, NC_000014.9:g.73918702_73918714del, NC_000014.9:g.73918703_73918714del, NC_000014.9:g.73918704_73918714del, NC_000014.9:g.73918705_73918714del, NC_000014.9:g.73918706_73918714del, NC_000014.9:g.73918707_73918714del, NC_000014.9:g.73918708_73918714del, NC_000014.9:g.73918709_73918714del, NC_000014.9:g.73918710_73918714del, NC_000014.9:g.73918711_73918714del, NC_000014.9:g.73918712_73918714del, NC_000014.9:g.73918713_73918714del, NC_000014.9:g.73918714del, NC_000014.9:g.73918714dup, NC_000014.9:g.73918713_73918714dup, NC_000014.9:g.73918712_73918714dup, NC_000014.9:g.73918711_73918714dup, NC_000014.9:g.73918710_73918714dup, NC_000014.9:g.73918707_73918714dup, NC_000014.8:g.74385398_74385417del, NC_000014.8:g.74385400_74385417del, NC_000014.8:g.74385401_74385417del, NC_000014.8:g.74385402_74385417del, NC_000014.8:g.74385403_74385417del, NC_000014.8:g.74385404_74385417del, NC_000014.8:g.74385405_74385417del, NC_000014.8:g.74385406_74385417del, NC_000014.8:g.74385407_74385417del, NC_000014.8:g.74385408_74385417del, NC_000014.8:g.74385409_74385417del, NC_000014.8:g.74385410_74385417del, NC_000014.8:g.74385411_74385417del, NC_000014.8:g.74385412_74385417del, NC_000014.8:g.74385413_74385417del, NC_000014.8:g.74385414_74385417del, NC_000014.8:g.74385415_74385417del, NC_000014.8:g.74385416_74385417del, NC_000014.8:g.74385417del, NC_000014.8:g.74385417dup, NC_000014.8:g.74385416_74385417dup, NC_000014.8:g.74385415_74385417dup, NC_000014.8:g.74385414_74385417dup, NC_000014.8:g.74385413_74385417dup, NC_000014.8:g.74385410_74385417dup
8.
rs1491328160 has merged into rs34227581 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GG>-,G,GGG,GGGG,GGGGG,GGGGGG
[Show Flanks]
- Chromosome:
- 14:73909615
(GRCh38)
14:74376318
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73909607:GGGGGGGGG:GGGGGGG,NC_000014.9:73909607:GGGGGGGGG:GGGGGGGG,NC_000014.9:73909607:GGGGGGGGG:GGGGGGGGGG,NC_000014.9:73909607:GGGGGGGGG:GGGGGGGGGGG,NC_000014.9:73909607:GGGGGGGGG:GGGGGGGGGGGG,NC_000014.9:73909607:GGGGGGGGG:GGGGGGGGGGGGG
- Gene:
- ZNF410 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGGGGGGGGGG=0./0
(
ALFA)
-=0.126/631
(1000Genomes)
- HGVS:
NC_000014.9:g.73909615_73909616del, NC_000014.9:g.73909616del, NC_000014.9:g.73909616dup, NC_000014.9:g.73909615_73909616dup, NC_000014.9:g.73909614_73909616dup, NC_000014.9:g.73909613_73909616dup, NC_000014.8:g.74376318_74376319del, NC_000014.8:g.74376319del, NC_000014.8:g.74376319dup, NC_000014.8:g.74376318_74376319dup, NC_000014.8:g.74376317_74376319dup, NC_000014.8:g.74376316_74376319dup
9.
rs1491286014 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 14:73916545
(GRCh38)
14:74383249
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73916545:A:AA
- Gene:
- ZNF410 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000029/4
(GnomAD)
A=0.000312/2
(1000Genomes)
- HGVS:
10.
rs1491258827 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 14:73918686
(GRCh38)
14:74385389
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73918685:CT:
- Gene:
- ZNF410 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000027/3
(GnomAD)
- HGVS:
11.
rs1491231212 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TATATATATATATATATATATATATATATGTATA,TATATATATATATATATATATATATATGTATA,TATATATATATATATATATATATATGTATA,TATATATATATATATATATATATGTATA,TATATATATATATATATATATGTATA,TATATATATATATATATATGTATA,TATATATATATATATATATGTGTATA,TATATATATATATATATGTATA,TATATATATATATATGTATA,TATATATATATATGTATA,TATATATATATGTATA,TATATATATGTATA,TATATATGTATA,TATATGTATA,TATGTATA,TATGTATATATATATGTATA,TGTATA
[Show Flanks]
- Chromosome:
- 14:73905991
(GRCh38)
14:74372695
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73905991:TATA:TATATATATATATATATATATATATATATATATGTATA,NC_000014.9:73905991:TATA:TATATATATATATATATATATATATATATATGTATA,NC_000014.9:73905991:TATA:TATATATATATATATATATATATATATATGTATA,NC_000014.9:73905991:TATA:TATATATATATATATATATATATATATGTATA,NC_000014.9:73905991:TATA:TATATATATATATATATATATATATGTATA,NC_000014.9:73905991:TATA:TATATATATATATATATATATATGTATA,NC_000014.9:73905991:TATA:TATATATATATATATATATATATGTGTATA,NC_000014.9:73905991:TATA:TATATATATATATATATATATGTATA,NC_000014.9:73905991:TATA:TATATATATATATATATATGTATA,NC_000014.9:73905991:TATA:TATATATATATATATATGTATA,NC_000014.9:73905991:TATA:TATATATATATATATGTATA,NC_000014.9:73905991:TATA:TATATATATATATGTATA,NC_000014.9:73905991:TATA:TATATATATATGTATA,NC_000014.9:73905991:TATA:TATATATATGTATA,NC_000014.9:73905991:TATA:TATATATGTATA,NC_000014.9:73905991:TATA:TATATATGTATATATATATGTATA,NC_000014.9:73905991:TATA:TATATGTATA
- Gene:
- ZNF410 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATATATGTATA=0./0
(
ALFA)
TATATATATATATATATATG=0.00167/1
(NorthernSweden)
- HGVS:
NC_000014.9:g.73905992_73905995TA[16]TGTATA[1], NC_000014.9:g.73905992_73905995TA[15]TGTATA[1], NC_000014.9:g.73905992_73905995TA[14]TGTATA[1], NC_000014.9:g.73905992_73905995TA[13]TGTATA[1], NC_000014.9:g.73905992_73905995TA[12]TGTATA[1], NC_000014.9:g.73905992_73905995TA[11]TGTATA[1], NC_000014.9:g.73905992_73905995TA[11]TG[2]TA[2], NC_000014.9:g.73905992_73905995TA[10]TGTATA[1], NC_000014.9:g.73905992_73905995TA[9]TGTATA[1], NC_000014.9:g.73905992_73905995TA[8]TGTATA[1], NC_000014.9:g.73905992_73905995TA[7]TGTATA[1], NC_000014.9:g.73905992_73905995TA[6]TGTATA[1], NC_000014.9:g.73905992_73905995TA[5]TGTATA[1], NC_000014.9:g.73905992_73905995TA[4]TGTATA[1], NC_000014.9:g.73905992_73905995TA[3]TGTATA[1], NC_000014.9:g.73905995_73905996insTATGTATATATATATGTATA, NC_000014.9:g.73905992_73905995TA[2]TGTATA[1], NC_000014.8:g.74372695_74372698TA[16]TGTATA[1], NC_000014.8:g.74372695_74372698TA[15]TGTATA[1], NC_000014.8:g.74372695_74372698TA[14]TGTATA[1], NC_000014.8:g.74372695_74372698TA[13]TGTATA[1], NC_000014.8:g.74372695_74372698TA[12]TGTATA[1], NC_000014.8:g.74372695_74372698TA[11]TGTATA[1], NC_000014.8:g.74372695_74372698TA[11]TG[2]TA[2], NC_000014.8:g.74372695_74372698TA[10]TGTATA[1], NC_000014.8:g.74372695_74372698TA[9]TGTATA[1], NC_000014.8:g.74372695_74372698TA[8]TGTATA[1], NC_000014.8:g.74372695_74372698TA[7]TGTATA[1], NC_000014.8:g.74372695_74372698TA[6]TGTATA[1], NC_000014.8:g.74372695_74372698TA[5]TGTATA[1], NC_000014.8:g.74372695_74372698TA[4]TGTATA[1], NC_000014.8:g.74372695_74372698TA[3]TGTATA[1], NC_000014.8:g.74372698_74372699insTATGTATATATATATGTATA, NC_000014.8:g.74372695_74372698TA[2]TGTATA[1]
12.
rs1491112924 has merged into rs755623044 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 14:73910763
(GRCh38)
14:74377466
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73910753:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000014.9:73910753:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:73910753:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:73910753:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:73910753:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:73910753:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:73910753:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:73910753:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:73910753:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:73910753:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:73910753:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:73910753:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:73910753:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:73910753:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ZNF410 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000014.9:g.73910763_73910773del, NC_000014.9:g.73910766_73910773del, NC_000014.9:g.73910767_73910773del, NC_000014.9:g.73910768_73910773del, NC_000014.9:g.73910769_73910773del, NC_000014.9:g.73910770_73910773del, NC_000014.9:g.73910771_73910773del, NC_000014.9:g.73910772_73910773del, NC_000014.9:g.73910773del, NC_000014.9:g.73910773dup, NC_000014.9:g.73910772_73910773dup, NC_000014.9:g.73910771_73910773dup, NC_000014.9:g.73910770_73910773dup, NC_000014.9:g.73910768_73910773dup, NC_000014.8:g.74377466_74377476del, NC_000014.8:g.74377469_74377476del, NC_000014.8:g.74377470_74377476del, NC_000014.8:g.74377471_74377476del, NC_000014.8:g.74377472_74377476del, NC_000014.8:g.74377473_74377476del, NC_000014.8:g.74377474_74377476del, NC_000014.8:g.74377475_74377476del, NC_000014.8:g.74377476del, NC_000014.8:g.74377476dup, NC_000014.8:g.74377475_74377476dup, NC_000014.8:g.74377474_74377476dup, NC_000014.8:g.74377473_74377476dup, NC_000014.8:g.74377471_74377476dup
13.
rs1491109024 has merged into rs11461357 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTT>-,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 14:73927844
(GRCh38)
14:74394547
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73927832:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:73927832:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:73927832:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:73927832:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:73927832:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:73927832:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:73927832:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:73927832:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:73927832:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ZNF410 (Varview), FAM161B (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
T=0.4397/2202
(1000Genomes)
- HGVS:
NC_000014.9:g.73927844_73927848del, NC_000014.9:g.73927847_73927848del, NC_000014.9:g.73927848del, NC_000014.9:g.73927848dup, NC_000014.9:g.73927847_73927848dup, NC_000014.9:g.73927846_73927848dup, NC_000014.9:g.73927845_73927848dup, NC_000014.9:g.73927844_73927848dup, NC_000014.9:g.73927841_73927848dup, NC_000014.8:g.74394547_74394551del, NC_000014.8:g.74394550_74394551del, NC_000014.8:g.74394551del, NC_000014.8:g.74394551dup, NC_000014.8:g.74394550_74394551dup, NC_000014.8:g.74394549_74394551dup, NC_000014.8:g.74394548_74394551dup, NC_000014.8:g.74394547_74394551dup, NC_000014.8:g.74394544_74394551dup
14.
rs1491074077 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 14:73925148
(GRCh38)
14:74391851
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73925146:TGT:T
- Gene:
- ZNF410 (Varview), FAM161B (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency
- MAF:
-=0.000021/3
(GnomAD)
- HGVS:
15.
rs1490958419 has merged into rs755623044 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 14:73910763
(GRCh38)
14:74377466
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73910753:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000014.9:73910753:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:73910753:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:73910753:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:73910753:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:73910753:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:73910753:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:73910753:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:73910753:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:73910753:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:73910753:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:73910753:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:73910753:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:73910753:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ZNF410 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000014.9:g.73910763_73910773del, NC_000014.9:g.73910766_73910773del, NC_000014.9:g.73910767_73910773del, NC_000014.9:g.73910768_73910773del, NC_000014.9:g.73910769_73910773del, NC_000014.9:g.73910770_73910773del, NC_000014.9:g.73910771_73910773del, NC_000014.9:g.73910772_73910773del, NC_000014.9:g.73910773del, NC_000014.9:g.73910773dup, NC_000014.9:g.73910772_73910773dup, NC_000014.9:g.73910771_73910773dup, NC_000014.9:g.73910770_73910773dup, NC_000014.9:g.73910768_73910773dup, NC_000014.8:g.74377466_74377476del, NC_000014.8:g.74377469_74377476del, NC_000014.8:g.74377470_74377476del, NC_000014.8:g.74377471_74377476del, NC_000014.8:g.74377472_74377476del, NC_000014.8:g.74377473_74377476del, NC_000014.8:g.74377474_74377476del, NC_000014.8:g.74377475_74377476del, NC_000014.8:g.74377476del, NC_000014.8:g.74377476dup, NC_000014.8:g.74377475_74377476dup, NC_000014.8:g.74377474_74377476dup, NC_000014.8:g.74377473_74377476dup, NC_000014.8:g.74377471_74377476dup
17.
rs1490896873 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:73887811
(GRCh38)
14:74354514
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73887810:G:A
- Gene:
- ZNF410 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
18.
rs1490874383 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 14:73898644
(GRCh38)
14:74365347
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73898643:T:A
- Gene:
- ZNF410 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000043/6
(GnomAD)
A=0.000057/15
(TOPMED)
- HGVS:
20.
rs1490855372 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 14:73904079
(GRCh38)
14:74370782
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73904078:G:T
- Gene:
- ZNF410 (Varview)
- Functional Consequence:
- coding_sequence_variant,non_coding_transcript_variant,missense_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000014.9:g.73904079G>T, NC_000014.8:g.74370782G>T, NM_021188.3:c.700G>T, NM_021188.2:c.700G>T, NM_001242924.2:c.751G>T, NM_001242924.1:c.751G>T, NM_001242928.2:c.141G>T, NM_001242928.1:c.141G>T, NR_040251.2:n.874G>T, NR_040251.1:n.1118G>T, NM_001242926.2:c.700G>T, NM_001242926.1:c.700G>T, NM_001242927.2:c.481G>T, NM_001242927.1:c.481G>T, NP_067011.1:p.Ala234Ser, NP_001229853.1:p.Ala251Ser, NP_001229857.1:p.Gln47His, NP_001229855.1:p.Ala234Ser, NP_001229856.1:p.Ala161Ser