Links from Gene
Items: 1 to 20 of 22753
1.
rs1491510797 has merged into rs1303746385 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CCC>-,C,CC,CCCC
[Show Flanks]
- Chromosome:
- 2:20637040
(GRCh38)
2:20836800
(GRCh37)
- Canonical SPDI:
- NC_000002.12:20637034:CCCCCCCC:CCCCC,NC_000002.12:20637034:CCCCCCCC:CCCCCC,NC_000002.12:20637034:CCCCCCCC:CCCCCCC,NC_000002.12:20637034:CCCCCCCC:CCCCCCCCC
- Gene:
- HS1BP3 (Varview), LOC124907740 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCCC=0./0
(
ALFA)
-=0.06521/995
(TOMMO)
- HGVS:
NC_000002.12:g.20637040_20637042del, NC_000002.12:g.20637041_20637042del, NC_000002.12:g.20637042del, NC_000002.12:g.20637042dup, NC_000002.11:g.20836800_20836802del, NC_000002.11:g.20836801_20836802del, NC_000002.11:g.20836802del, NC_000002.11:g.20836802dup, XR_007086243.1:n.1393_1395del, XR_007086243.1:n.1394_1395del, XR_007086243.1:n.1395del, XR_007086243.1:n.1395dup
2.
rs1491493672 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CT
[Show Flanks]
- Chromosome:
- 2:20601771
(GRCh38)
2:20801532
(GRCh37)
- Canonical SPDI:
- NC_000002.12:20601771:T:TCT
- Gene:
- HS1BP3 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TCT=0./0
(
ALFA)
TC=0.00007/1
(GnomAD)
- HGVS:
3.
rs1491479237 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 2:20608574
(GRCh38)
2:20808334
(GRCh37)
- Canonical SPDI:
- NC_000002.12:20608573:CA:
- Gene:
- HS1BP3 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.02428/288
(
ALFA)
-=0.00647/182
(TOMMO)
- HGVS:
4.
rs1491443277 has merged into rs60486220 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAA>-,AA,AAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 2:20608583
(GRCh38)
2:20808343
(GRCh37)
- Canonical SPDI:
- NC_000002.12:20608574:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000002.12:20608574:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:20608574:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:20608574:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:20608574:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:20608574:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:20608574:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:20608574:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:20608574:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:20608574:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:20608574:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:20608574:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:20608574:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:20608574:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:20608574:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- HS1BP3 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000002.12:g.20608583_20608596del, NC_000002.12:g.20608585_20608596del, NC_000002.12:g.20608588_20608596del, NC_000002.12:g.20608591_20608596del, NC_000002.12:g.20608592_20608596del, NC_000002.12:g.20608593_20608596del, NC_000002.12:g.20608594_20608596del, NC_000002.12:g.20608595_20608596del, NC_000002.12:g.20608596del, NC_000002.12:g.20608596dup, NC_000002.12:g.20608595_20608596dup, NC_000002.12:g.20608594_20608596dup, NC_000002.12:g.20608593_20608596dup, NC_000002.12:g.20608592_20608596dup, NC_000002.12:g.20608591_20608596dup, NC_000002.11:g.20808343_20808356del, NC_000002.11:g.20808345_20808356del, NC_000002.11:g.20808348_20808356del, NC_000002.11:g.20808351_20808356del, NC_000002.11:g.20808352_20808356del, NC_000002.11:g.20808353_20808356del, NC_000002.11:g.20808354_20808356del, NC_000002.11:g.20808355_20808356del, NC_000002.11:g.20808356del, NC_000002.11:g.20808356dup, NC_000002.11:g.20808355_20808356dup, NC_000002.11:g.20808354_20808356dup, NC_000002.11:g.20808353_20808356dup, NC_000002.11:g.20808352_20808356dup, NC_000002.11:g.20808351_20808356dup
5.
rs1491219145 has merged into rs1244973904 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-,CTCT
[Show Flanks]
- Chromosome:
- 2:20599651
(GRCh38)
2:20799411
(GRCh37)
- Canonical SPDI:
- NC_000002.12:20599648:CTCT:CT,NC_000002.12:20599648:CTCT:CTCTCT
- Gene:
- HS1BP3 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTCTCT=0./0
(
ALFA)
-=0.006/11
(Korea1K)
- HGVS:
7.
rs1491168444 has merged into rs35644786 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 2:20601782
(GRCh38)
2:20801542
(GRCh37)
- Canonical SPDI:
- NC_000002.12:20601770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:20601770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:20601770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:20601770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:20601770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:20601770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:20601770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:20601770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:20601770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:20601770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:20601770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:20601770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:20601770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:20601770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:20601770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:20601770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:20601770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:20601770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:20601770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:20601770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:20601770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:20601770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:20601770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:20601770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:20601770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:20601770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:20601770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:20601770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:20601770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:20601770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:20601770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- HS1BP3 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000002.12:g.20601782_20601796del, NC_000002.12:g.20601783_20601796del, NC_000002.12:g.20601784_20601796del, NC_000002.12:g.20601785_20601796del, NC_000002.12:g.20601786_20601796del, NC_000002.12:g.20601787_20601796del, NC_000002.12:g.20601788_20601796del, NC_000002.12:g.20601789_20601796del, NC_000002.12:g.20601790_20601796del, NC_000002.12:g.20601791_20601796del, NC_000002.12:g.20601792_20601796del, NC_000002.12:g.20601793_20601796del, NC_000002.12:g.20601794_20601796del, NC_000002.12:g.20601795_20601796del, NC_000002.12:g.20601796del, NC_000002.12:g.20601796dup, NC_000002.12:g.20601795_20601796dup, NC_000002.12:g.20601794_20601796dup, NC_000002.12:g.20601793_20601796dup, NC_000002.12:g.20601792_20601796dup, NC_000002.12:g.20601791_20601796dup, NC_000002.12:g.20601790_20601796dup, NC_000002.12:g.20601789_20601796dup, NC_000002.12:g.20601788_20601796dup, NC_000002.12:g.20601787_20601796dup, NC_000002.12:g.20601786_20601796dup, NC_000002.12:g.20601785_20601796dup, NC_000002.12:g.20601784_20601796dup, NC_000002.12:g.20601781_20601796dup, NC_000002.12:g.20601779_20601796dup, NC_000002.12:g.20601771_20601796dup, NC_000002.11:g.20801542_20801556del, NC_000002.11:g.20801543_20801556del, NC_000002.11:g.20801544_20801556del, NC_000002.11:g.20801545_20801556del, NC_000002.11:g.20801546_20801556del, NC_000002.11:g.20801547_20801556del, NC_000002.11:g.20801548_20801556del, NC_000002.11:g.20801549_20801556del, NC_000002.11:g.20801550_20801556del, NC_000002.11:g.20801551_20801556del, NC_000002.11:g.20801552_20801556del, NC_000002.11:g.20801553_20801556del, NC_000002.11:g.20801554_20801556del, NC_000002.11:g.20801555_20801556del, NC_000002.11:g.20801556del, NC_000002.11:g.20801556dup, NC_000002.11:g.20801555_20801556dup, NC_000002.11:g.20801554_20801556dup, NC_000002.11:g.20801553_20801556dup, NC_000002.11:g.20801552_20801556dup, NC_000002.11:g.20801551_20801556dup, NC_000002.11:g.20801550_20801556dup, NC_000002.11:g.20801549_20801556dup, NC_000002.11:g.20801548_20801556dup, NC_000002.11:g.20801547_20801556dup, NC_000002.11:g.20801546_20801556dup, NC_000002.11:g.20801545_20801556dup, NC_000002.11:g.20801544_20801556dup, NC_000002.11:g.20801541_20801556dup, NC_000002.11:g.20801539_20801556dup, NC_000002.11:g.20801531_20801556dup
8.
rs1491135433 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 2:20599653
(GRCh38)
2:20799413
(GRCh37)
- Canonical SPDI:
- NC_000002.12:20599651:TGT:T
- Gene:
- HS1BP3 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
-=0./0
(GnomAD)
- HGVS:
9.
rs1491094844 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 2:20599652
(GRCh38)
2:20799413
(GRCh37)
- Canonical SPDI:
- NC_000002.12:20599652::C
- Gene:
- HS1BP3 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000008/1
(GnomAD)
- HGVS:
10.
rs1491066853 has merged into rs59149167 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACACACACACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACAC
[Show Flanks]
- Chromosome:
- 2:20599630
(GRCh38)
2:20799390
(GRCh37)
- Canonical SPDI:
- NC_000002.12:20599609:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000002.12:20599609:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000002.12:20599609:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000002.12:20599609:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000002.12:20599609:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000002.12:20599609:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000002.12:20599609:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000002.12:20599609:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000002.12:20599609:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000002.12:20599609:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC,NC_000002.12:20599609:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC,NC_000002.12:20599609:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACAC,NC_000002.12:20599609:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACAC,NC_000002.12:20599609:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000002.12:20599609:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000002.12:20599609:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000002.12:20599609:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000002.12:20599609:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000002.12:20599609:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC
- Gene:
- HS1BP3 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACACACACAC=0./0
(
ALFA)
AC=0.3099/1552
(1000Genomes)
- HGVS:
NC_000002.12:g.20599610AC[10], NC_000002.12:g.20599610AC[11], NC_000002.12:g.20599610AC[12], NC_000002.12:g.20599610AC[13], NC_000002.12:g.20599610AC[14], NC_000002.12:g.20599610AC[15], NC_000002.12:g.20599610AC[16], NC_000002.12:g.20599610AC[17], NC_000002.12:g.20599610AC[18], NC_000002.12:g.20599610AC[19], NC_000002.12:g.20599610AC[21], NC_000002.12:g.20599610AC[22], NC_000002.12:g.20599610AC[23], NC_000002.12:g.20599610AC[24], NC_000002.12:g.20599610AC[25], NC_000002.12:g.20599610AC[26], NC_000002.12:g.20599610AC[27], NC_000002.12:g.20599610AC[28], NC_000002.12:g.20599610AC[29], NC_000002.11:g.20799370AC[10], NC_000002.11:g.20799370AC[11], NC_000002.11:g.20799370AC[12], NC_000002.11:g.20799370AC[13], NC_000002.11:g.20799370AC[14], NC_000002.11:g.20799370AC[15], NC_000002.11:g.20799370AC[16], NC_000002.11:g.20799370AC[17], NC_000002.11:g.20799370AC[18], NC_000002.11:g.20799370AC[19], NC_000002.11:g.20799370AC[21], NC_000002.11:g.20799370AC[22], NC_000002.11:g.20799370AC[23], NC_000002.11:g.20799370AC[24], NC_000002.11:g.20799370AC[25], NC_000002.11:g.20799370AC[26], NC_000002.11:g.20799370AC[27], NC_000002.11:g.20799370AC[28], NC_000002.11:g.20799370AC[29]
11.
rs1490993023 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:20571293
(GRCh38)
2:20771053
(GRCh37)
- Canonical SPDI:
- NC_000002.12:20571292:G:A
- Gene:
- HS1BP3 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
12.
rs1490968160 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:20623947
(GRCh38)
2:20823707
(GRCh37)
- Canonical SPDI:
- NC_000002.12:20623946:C:T
- Gene:
- HS1BP3 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000002.12:g.20623947C>T, NC_000002.11:g.20823707C>T, NM_022460.4:c.869G>A, NM_022460.3:c.869G>A, XM_017004697.3:c.869G>A, XM_017004697.2:c.869G>A, XM_017004697.1:c.869G>A, XM_017004696.3:c.869G>A, XM_017004696.2:c.869G>A, XM_017004696.1:c.869G>A, XM_017004698.2:c.869G>A, XM_017004698.1:c.869G>A, XM_017004701.2:c.869G>A, XM_017004701.1:c.869G>A, NP_071905.3:p.Gly290Glu, XP_016860186.1:p.Gly290Glu, XP_016860185.1:p.Gly290Glu, XP_016860187.1:p.Gly290Glu, XP_016860190.1:p.Gly290Glu
13.
rs1490968120 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:20635878
(GRCh38)
2:20835638
(GRCh37)
- Canonical SPDI:
- NC_000002.12:20635877:A:G
- Gene:
- HS1BP3 (Varview), LOC124907740 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
14.
rs1490960129 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:20600325
(GRCh38)
2:20800085
(GRCh37)
- Canonical SPDI:
- NC_000002.12:20600324:G:A
- Gene:
- HS1BP3 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000198/3
(
ALFA)
A=0.000029/4
(GnomAD)
A=0.00067/3
(Estonian)
- HGVS:
15.
rs1490926585 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 2:20571134
(GRCh38)
2:20770894
(GRCh37)
- Canonical SPDI:
- NC_000002.12:20571133:A:G,NC_000002.12:20571133:A:T
- Gene:
- HS1BP3 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
T=0.000035/1
(TOMMO)
- HGVS:
16.
rs1490880760 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 2:20637044
(GRCh38)
2:20836804
(GRCh37)
- Canonical SPDI:
- NC_000002.12:20637043:C:A,NC_000002.12:20637043:C:G
- Gene:
- HS1BP3 (Varview), LOC124907740 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
G=0.000022/3
(GnomAD)
- HGVS:
17.
rs1490818091 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:20553987
(GRCh38)
2:20753747
(GRCh37)
- Canonical SPDI:
- NC_000002.12:20553986:C:T
- Gene:
- HS1BP3 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
18.
rs1490780836 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 2:20612570
(GRCh38)
2:20812330
(GRCh37)
- Canonical SPDI:
- NC_000002.12:20612569:G:T
- Gene:
- HS1BP3 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
19.
rs1490780418 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 2:20554686
(GRCh38)
2:20754446
(GRCh37)
- Canonical SPDI:
- NC_000002.12:20554685:A:C
- Gene:
- HS1BP3 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000022/3
(GnomAD)
- HGVS:
20.
rs1490765156 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 2:20554831
(GRCh38)
2:20754591
(GRCh37)
- Canonical SPDI:
- NC_000002.12:20554830:G:C
- Gene:
- HS1BP3 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS: