Links from Gene
Items: 1 to 20 of 8147
1.
rs1491339555 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->ATTT,ATTTTTTTT,GTT,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT
[Show Flanks]
- Chromosome:
- 1:175176668
(GRCh38)
1:175145805
(GRCh37)
- Canonical SPDI:
- NC_000001.11:175176668::ATTT,NC_000001.11:175176668::ATTTTTTTT,NC_000001.11:175176668::GTT,NC_000001.11:175176668::T,NC_000001.11:175176668::TT,NC_000001.11:175176668::TTT,NC_000001.11:175176668::TTTT,NC_000001.11:175176668::TTTTTT,NC_000001.11:175176668::TTTTTTT,NC_000001.11:175176668::TTTTTTTT
- Gene:
- KIAA0040 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
TT=0.00168/3
(Korea1K)
- HGVS:
NC_000001.11:g.175176668_175176669insATTT, NC_000001.11:g.175176668_175176669insATTTTTTTT, NC_000001.11:g.175176668_175176669insGTT, NC_000001.11:g.175176668_175176669insT, NC_000001.11:g.175176668_175176669insTT, NC_000001.11:g.175176668_175176669insTTT, NC_000001.11:g.175176668_175176669insTTTT, NC_000001.11:g.175176668_175176669insTTTTTT, NC_000001.11:g.175176668_175176669insTTTTTTT, NC_000001.11:g.175176668_175176669insTTTTTTTT, NC_000001.10:g.175145804_175145805insATTT, NC_000001.10:g.175145804_175145805insATTTTTTTT, NC_000001.10:g.175145804_175145805insGTT, NC_000001.10:g.175145804_175145805insT, NC_000001.10:g.175145804_175145805insTT, NC_000001.10:g.175145804_175145805insTTT, NC_000001.10:g.175145804_175145805insTTTT, NC_000001.10:g.175145804_175145805insTTTTTT, NC_000001.10:g.175145804_175145805insTTTTTTT, NC_000001.10:g.175145804_175145805insTTTTTTTT
2.
rs1491323367 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GC>-
[Show Flanks]
- Chromosome:
- 1:175176668
(GRCh38)
1:175145804
(GRCh37)
- Canonical SPDI:
- NC_000001.11:175176667:GC:
- Gene:
- KIAA0040 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
-=0.000017/2
(GnomAD)
- HGVS:
3.
rs1491067895 has merged into rs3835506 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TATA>-,TA,TATATA,TATATACACATACATATATATATATATATATA,TATATATA,TATATATATA,TATATATATATA
[Show Flanks]
- Chromosome:
- 1:175174816
(GRCh38)
1:175143952
(GRCh37)
- Canonical SPDI:
- NC_000001.11:175174802:ATATATATATATATATA:ATATATATATATA,NC_000001.11:175174802:ATATATATATATATATA:ATATATATATATATA,NC_000001.11:175174802:ATATATATATATATATA:ATATATATATATATATATA,NC_000001.11:175174802:ATATATATATATATATA:ATATATATATATATATATACACATACATATATATATATATATATA,NC_000001.11:175174802:ATATATATATATATATA:ATATATATATATATATATATA,NC_000001.11:175174802:ATATATATATATATATA:ATATATATATATATATATATATA,NC_000001.11:175174802:ATATATATATATATATA:ATATATATATATATATATATATATA
- Gene:
- KIAA0040 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATATATATATATACACATACATATATATATATATATATA=0./0
(
ALFA)
- HGVS:
NC_000001.11:g.175174804TA[6], NC_000001.11:g.175174804TA[7], NC_000001.11:g.175174804TA[9], NC_000001.11:g.175174803_175174819AT[9]AC[2]ATACATATATATATATATATATA[1], NC_000001.11:g.175174804TA[10], NC_000001.11:g.175174804TA[11], NC_000001.11:g.175174804TA[12], NC_000001.10:g.175143940TA[6], NC_000001.10:g.175143940TA[7], NC_000001.10:g.175143940TA[9], NC_000001.10:g.175143939_175143955AT[9]AC[2]ATACATATATATATATATATATA[1], NC_000001.10:g.175143940TA[10], NC_000001.10:g.175143940TA[11], NC_000001.10:g.175143940TA[12]
4.
rs1491064632 has merged into rs34859478 [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,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 1:175176682
(GRCh38)
1:175145818
(GRCh37)
- Canonical SPDI:
- NC_000001.11:175176669:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:175176669:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:175176669:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:175176669:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:175176669:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:175176669:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:175176669:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:175176669:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:175176669:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:175176669:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:175176669:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:175176669:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:175176669:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:175176669:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:175176669:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:175176669:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:175176669:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:175176669:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:175176669:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:175176669:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:175176669:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:175176669:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:175176669:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:175176669:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:175176669:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:175176669:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:175176669:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:175176669:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:175176669:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:175176669:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:175176669:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:175176669:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:175176669:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:175176669:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:175176669:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:175176669:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:175176669:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:175176669:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:175176669:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:175176669:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:175176669:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:175176669:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:175176669:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:175176669:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:175176669:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:175176669:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:175176669:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:175176669:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:175176669:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:175176669:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:175176669:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:175176669:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:175176669:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:175176669:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- KIAA0040 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
-=0.4557/2282
(1000Genomes)
- HGVS:
NC_000001.11:g.175176682_175176700del, NC_000001.11:g.175176683_175176700del, NC_000001.11:g.175176684_175176700del, NC_000001.11:g.175176685_175176700del, NC_000001.11:g.175176686_175176700del, NC_000001.11:g.175176687_175176700del, NC_000001.11:g.175176688_175176700del, NC_000001.11:g.175176689_175176700del, NC_000001.11:g.175176690_175176700del, NC_000001.11:g.175176691_175176700del, NC_000001.11:g.175176692_175176700del, NC_000001.11:g.175176693_175176700del, NC_000001.11:g.175176694_175176700del, NC_000001.11:g.175176695_175176700del, NC_000001.11:g.175176696_175176700del, NC_000001.11:g.175176697_175176700del, NC_000001.11:g.175176698_175176700del, NC_000001.11:g.175176699_175176700del, NC_000001.11:g.175176700del, NC_000001.11:g.175176700dup, NC_000001.11:g.175176699_175176700dup, NC_000001.11:g.175176698_175176700dup, NC_000001.11:g.175176697_175176700dup, NC_000001.11:g.175176696_175176700dup, NC_000001.11:g.175176695_175176700dup, NC_000001.11:g.175176694_175176700dup, NC_000001.11:g.175176693_175176700dup, NC_000001.11:g.175176692_175176700dup, NC_000001.11:g.175176691_175176700dup, NC_000001.11:g.175176690_175176700dup, NC_000001.11:g.175176689_175176700dup, NC_000001.11:g.175176686_175176700dup, NC_000001.11:g.175176685_175176700dup, NC_000001.11:g.175176684_175176700dup, NC_000001.11:g.175176683_175176700dup, NC_000001.11:g.175176682_175176700dup, NC_000001.11:g.175176681_175176700dup, NC_000001.11:g.175176680_175176700dup, NC_000001.11:g.175176679_175176700dup, NC_000001.11:g.175176678_175176700dup, NC_000001.11:g.175176677_175176700dup, NC_000001.11:g.175176676_175176700dup, NC_000001.11:g.175176675_175176700dup, NC_000001.11:g.175176674_175176700dup, NC_000001.11:g.175176673_175176700dup, NC_000001.11:g.175176672_175176700dup, NC_000001.11:g.175176670_175176700dup, NC_000001.11:g.175176700_175176701insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.175176700_175176701insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.175176700_175176701insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.175176700_175176701insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.175176700_175176701insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.175176700_175176701insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.175176700_175176701insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.175145818_175145836del, NC_000001.10:g.175145819_175145836del, NC_000001.10:g.175145820_175145836del, NC_000001.10:g.175145821_175145836del, NC_000001.10:g.175145822_175145836del, NC_000001.10:g.175145823_175145836del, NC_000001.10:g.175145824_175145836del, NC_000001.10:g.175145825_175145836del, NC_000001.10:g.175145826_175145836del, NC_000001.10:g.175145827_175145836del, NC_000001.10:g.175145828_175145836del, NC_000001.10:g.175145829_175145836del, NC_000001.10:g.175145830_175145836del, NC_000001.10:g.175145831_175145836del, NC_000001.10:g.175145832_175145836del, NC_000001.10:g.175145833_175145836del, NC_000001.10:g.175145834_175145836del, NC_000001.10:g.175145835_175145836del, NC_000001.10:g.175145836del, NC_000001.10:g.175145836dup, NC_000001.10:g.175145835_175145836dup, NC_000001.10:g.175145834_175145836dup, NC_000001.10:g.175145833_175145836dup, NC_000001.10:g.175145832_175145836dup, NC_000001.10:g.175145831_175145836dup, NC_000001.10:g.175145830_175145836dup, NC_000001.10:g.175145829_175145836dup, NC_000001.10:g.175145828_175145836dup, NC_000001.10:g.175145827_175145836dup, NC_000001.10:g.175145826_175145836dup, NC_000001.10:g.175145825_175145836dup, NC_000001.10:g.175145822_175145836dup, NC_000001.10:g.175145821_175145836dup, NC_000001.10:g.175145820_175145836dup, NC_000001.10:g.175145819_175145836dup, NC_000001.10:g.175145818_175145836dup, NC_000001.10:g.175145817_175145836dup, NC_000001.10:g.175145816_175145836dup, NC_000001.10:g.175145815_175145836dup, NC_000001.10:g.175145814_175145836dup, NC_000001.10:g.175145813_175145836dup, NC_000001.10:g.175145812_175145836dup, NC_000001.10:g.175145811_175145836dup, NC_000001.10:g.175145810_175145836dup, NC_000001.10:g.175145809_175145836dup, NC_000001.10:g.175145808_175145836dup, NC_000001.10:g.175145806_175145836dup, NC_000001.10:g.175145836_175145837insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.175145836_175145837insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.175145836_175145837insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.175145836_175145837insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.175145836_175145837insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.175145836_175145837insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.175145836_175145837insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
5.
rs1490983103 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:175176751
(GRCh38)
1:175145887
(GRCh37)
- Canonical SPDI:
- NC_000001.11:175176750:A:G
- Gene:
- KIAA0040 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000009/1
(GnomAD)
- HGVS:
6.
rs1490929582 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 1:175193712
(GRCh38)
1:175162848
(GRCh37)
- Canonical SPDI:
- NC_000001.11:175193711:G:C,NC_000001.11:175193711:G:T
- Gene:
- KIAA0040 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
C=0.00016/1
(1000Genomes)
- HGVS:
7.
rs1490778843 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:175168786
(GRCh38)
1:175137922
(GRCh37)
- Canonical SPDI:
- NC_000001.11:175168785:G:A
- Gene:
- KIAA0040 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
9.
rs1490565744 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:175163263
(GRCh38)
1:175132399
(GRCh37)
- Canonical SPDI:
- NC_000001.11:175163262:T:C
- Gene:
- KIAA0040 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000029/4
(GnomAD)
- HGVS:
10.
rs1490504299 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:175186150
(GRCh38)
1:175155286
(GRCh37)
- Canonical SPDI:
- NC_000001.11:175186149:A:G
- Gene:
- KIAA0040 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
11.
rs1490473084 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 1:175182231
(GRCh38)
1:175151367
(GRCh37)
- Canonical SPDI:
- NC_000001.11:175182230:G:
- Gene:
- KIAA0040 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000071/1
(
ALFA)
-=0.000079/21
(TOPMED)
-=0.0001/14
(GnomAD)
- HGVS:
12.
rs1490459720 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:175179413
(GRCh38)
1:175148549
(GRCh37)
- Canonical SPDI:
- NC_000001.11:175179412:T:C
- Gene:
- KIAA0040 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
13.
rs1490287764 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:175169363
(GRCh38)
1:175138499
(GRCh37)
- Canonical SPDI:
- NC_000001.11:175169362:C:T
- Gene:
- KIAA0040 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
14.
rs1490178987 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:175187309
(GRCh38)
1:175156445
(GRCh37)
- Canonical SPDI:
- NC_000001.11:175187308:C:A
- Gene:
- KIAA0040 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
15.
rs1490078743 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:175162229
(GRCh38)
1:175131365
(GRCh37)
- Canonical SPDI:
- NC_000001.11:175162228:C:T
- Gene:
- KIAA0040 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
16.
rs1490013645 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:175186753
(GRCh38)
1:175155889
(GRCh37)
- Canonical SPDI:
- NC_000001.11:175186752:C:T
- Gene:
- KIAA0040 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000019/5
(TOPMED)
- HGVS:
17.
rs1489983716 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:175181063
(GRCh38)
1:175150199
(GRCh37)
- Canonical SPDI:
- NC_000001.11:175181062:G:C
- Gene:
- KIAA0040 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000142/2
(
ALFA)
C=0.000036/5
(GnomAD)
C=0.000038/10
(TOPMED)
- HGVS:
18.
rs1489968563 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 1:175178294
(GRCh38)
1:175147430
(GRCh37)
- Canonical SPDI:
- NC_000001.11:175178293:T:G
- Gene:
- KIAA0040 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
19.
rs1489919767 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:175160675
(GRCh38)
1:175129811
(GRCh37)
- Canonical SPDI:
- NC_000001.11:175160674:C:T
- Gene:
- KIAA0040 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
NC_000001.11:g.175160675C>T, NC_000001.10:g.175129811C>T, NM_014656.3:c.*39G>A, NM_014656.2:c.*39G>A, XM_017002911.3:c.*39G>A, XM_017002911.2:c.*39G>A, XM_017002911.1:c.*39G>A, NM_001319231.2:c.*39G>A, NM_001319231.1:c.*39G>A, NM_001162893.2:c.*39G>A, NM_001162893.1:c.*39G>A, NR_015350.2:n.876G>A, NM_001162894.2:c.*39G>A, NM_001162894.1:c.*39G>A, NM_001162895.2:c.*39G>A, NM_001162895.1:c.*39G>A, NM_001319230.2:c.*39G>A, NM_001319230.1:c.*39G>A, XM_047435110.1:c.-45G>A, XM_047435111.1:c.-45G>A, NR_015350.1:n.820G>A
20.
rs1489727481 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:175195245
(GRCh38)
1:175164381
(GRCh37)
- Canonical SPDI:
- NC_000001.11:175195244:T:C
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS: