Links from Gene
Items: 1 to 20 of 1000
1.
rs1491481533 has merged into rs35167727 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAA>-,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 2:27126952
(GRCh38)
2:27349820
(GRCh37)
- Canonical SPDI:
- NC_000002.12:27126945:AAAAAAAAAAAAAAAAA:AAAAAA,NC_000002.12:27126945:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:27126945:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:27126945:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:27126945:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:27126945:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:27126945:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:27126945:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:27126945:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:27126945:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:27126945:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
- Gene:
- ABHD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
-=0.363/1818
(1000Genomes)
- HGVS:
NC_000002.12:g.27126952_27126962del, NC_000002.12:g.27126957_27126962del, NC_000002.12:g.27126958_27126962del, NC_000002.12:g.27126959_27126962del, NC_000002.12:g.27126960_27126962del, NC_000002.12:g.27126961_27126962del, NC_000002.12:g.27126962del, NC_000002.12:g.27126962dup, NC_000002.12:g.27126961_27126962dup, NC_000002.12:g.27126960_27126962dup, NC_000002.12:g.27126959_27126962dup, NC_000002.11:g.27349820_27349830del, NC_000002.11:g.27349825_27349830del, NC_000002.11:g.27349826_27349830del, NC_000002.11:g.27349827_27349830del, NC_000002.11:g.27349828_27349830del, NC_000002.11:g.27349829_27349830del, NC_000002.11:g.27349830del, NC_000002.11:g.27349830dup, NC_000002.11:g.27349829_27349830dup, NC_000002.11:g.27349828_27349830dup, NC_000002.11:g.27349827_27349830dup
2.
rs1491369861 has merged into rs61505752 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 2:27127249
(GRCh38)
2:27350117
(GRCh37)
- Canonical SPDI:
- NC_000002.12:27127236:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:27127236:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:27127236:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:27127236:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:27127236:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:27127236:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:27127236:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:27127236:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:27127236:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:27127236:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27127236:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27127236:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27127236:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27127236:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27127236:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27127236:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27127236:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27127236:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27127236:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27127236:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27127236:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27127236:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27127236:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27127236:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ABHD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00356/2
(NorthernSweden)
-=0.475/19
(GENOME_DK)
- HGVS:
NC_000002.12:g.27127249_27127262del, NC_000002.12:g.27127250_27127262del, NC_000002.12:g.27127251_27127262del, NC_000002.12:g.27127252_27127262del, NC_000002.12:g.27127253_27127262del, NC_000002.12:g.27127254_27127262del, NC_000002.12:g.27127255_27127262del, NC_000002.12:g.27127256_27127262del, NC_000002.12:g.27127257_27127262del, NC_000002.12:g.27127258_27127262del, NC_000002.12:g.27127259_27127262del, NC_000002.12:g.27127260_27127262del, NC_000002.12:g.27127261_27127262del, NC_000002.12:g.27127262del, NC_000002.12:g.27127262dup, NC_000002.12:g.27127261_27127262dup, NC_000002.12:g.27127260_27127262dup, NC_000002.12:g.27127259_27127262dup, NC_000002.12:g.27127258_27127262dup, NC_000002.12:g.27127257_27127262dup, NC_000002.12:g.27127256_27127262dup, NC_000002.12:g.27127255_27127262dup, NC_000002.12:g.27127254_27127262dup, NC_000002.12:g.27127262_27127263insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.27350117_27350130del, NC_000002.11:g.27350118_27350130del, NC_000002.11:g.27350119_27350130del, NC_000002.11:g.27350120_27350130del, NC_000002.11:g.27350121_27350130del, NC_000002.11:g.27350122_27350130del, NC_000002.11:g.27350123_27350130del, NC_000002.11:g.27350124_27350130del, NC_000002.11:g.27350125_27350130del, NC_000002.11:g.27350126_27350130del, NC_000002.11:g.27350127_27350130del, NC_000002.11:g.27350128_27350130del, NC_000002.11:g.27350129_27350130del, NC_000002.11:g.27350130del, NC_000002.11:g.27350130dup, NC_000002.11:g.27350129_27350130dup, NC_000002.11:g.27350128_27350130dup, NC_000002.11:g.27350127_27350130dup, NC_000002.11:g.27350126_27350130dup, NC_000002.11:g.27350125_27350130dup, NC_000002.11:g.27350124_27350130dup, NC_000002.11:g.27350123_27350130dup, NC_000002.11:g.27350122_27350130dup, NC_000002.11:g.27350130_27350131insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
3.
rs1491332907 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GT
[Show Flanks]
- Chromosome:
- 2:27127237
(GRCh38)
2:27350106
(GRCh37)
- Canonical SPDI:
- NC_000002.12:27127237:T:TGT
- Gene:
- ABHD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGT=0.00008/1
(
ALFA)
TG=0.00249/119
(GnomAD)
- HGVS:
4.
rs1491214636 has merged into rs34226076 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA
[Show Flanks]
- Chromosome:
- 2:27125911
(GRCh38)
2:27348779
(GRCh37)
- Canonical SPDI:
- NC_000002.12:27125900:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:27125900:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:27125900:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:27125900:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:27125900:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:27125900:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:27125900:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:27125900:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
- Gene:
- ABHD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
A=0.3231/1618
(1000Genomes)
- HGVS:
NC_000002.12:g.27125911_27125919del, NC_000002.12:g.27125914_27125919del, NC_000002.12:g.27125915_27125919del, NC_000002.12:g.27125916_27125919del, NC_000002.12:g.27125917_27125919del, NC_000002.12:g.27125918_27125919del, NC_000002.12:g.27125919del, NC_000002.12:g.27125919dup, NC_000002.11:g.27348779_27348787del, NC_000002.11:g.27348782_27348787del, NC_000002.11:g.27348783_27348787del, NC_000002.11:g.27348784_27348787del, NC_000002.11:g.27348785_27348787del, NC_000002.11:g.27348786_27348787del, NC_000002.11:g.27348787del, NC_000002.11:g.27348787dup
6.
rs1490017975 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:27127573
(GRCh38)
2:27350441
(GRCh37)
- Canonical SPDI:
- NC_000002.12:27127572:A:G
- Gene:
- ABHD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.00346/41
(
ALFA)
G=0.00007/2
(TOMMO)
G=0.00013/11
(GnomAD)
G=0.02122/62
(KOREAN)
A=0.5/4
(SGDP_PRJ)
- HGVS:
7.
rs1489070473 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 2:27124549
(GRCh38)
2:27347417
(GRCh37)
- Canonical SPDI:
- NC_000002.12:27124548:T:G
- Gene:
- ABHD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
8.
rs1489040461 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:27125467
(GRCh38)
2:27348335
(GRCh37)
- Canonical SPDI:
- NC_000002.12:27125466:T:C
- Gene:
- ABHD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
9.
rs1488212457 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 2:27122541
(GRCh38)
2:27345409
(GRCh37)
- Canonical SPDI:
- NC_000002.12:27122540:C:A
- Gene:
- ABHD1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
10.
rs1487991398 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:27126294
(GRCh38)
2:27349162
(GRCh37)
- Canonical SPDI:
- NC_000002.12:27126293:A:G
- Gene:
- ABHD1 (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:
11.
rs1487789526 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 2:27128743
(GRCh38)
2:27351611
(GRCh37)
- Canonical SPDI:
- NC_000002.12:27128742:G:A,NC_000002.12:27128742:G:C
- Gene:
- ABHD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000029/4
(GnomAD)
- HGVS:
12.
rs1487767346 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:27129709
(GRCh38)
2:27352577
(GRCh37)
- Canonical SPDI:
- NC_000002.12:27129708:A:G
- Gene:
- ABHD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
13.
rs1486980593 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 2:27124101
(GRCh38)
2:27346969
(GRCh37)
- Canonical SPDI:
- NC_000002.12:27124100:T:C,NC_000002.12:27124100:T:G
- Gene:
- ABHD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(GnomAD_exomes)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
G=0.003275/6
(Korea1K)
- HGVS:
14.
rs1486871442 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GACA>-
[Show Flanks]
- Chromosome:
- 2:27122408
(GRCh38)
2:27345276
(GRCh37)
- Canonical SPDI:
- NC_000002.12:27122406:AGACA:A
- Gene:
- ABHD1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000008/2
(TOPMED)
- HGVS:
15.
rs1486753031 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:27129045
(GRCh38)
2:27351913
(GRCh37)
- Canonical SPDI:
- NC_000002.12:27129044:C:T
- Gene:
- ABHD1 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000002.12:g.27129045C>T, NC_000002.11:g.27351913C>T, NM_032604.4:c.376C>T, NM_032604.3:c.376C>T, XM_011533135.4:c.376C>T, XM_011533135.3:c.376C>T, XM_011533135.2:c.376C>T, XM_011533135.1:c.376C>T, XM_011533136.4:c.376C>T, XM_011533136.3:c.376C>T, XM_011533136.2:c.376C>T, XM_011533136.1:c.376C>T, XM_011533137.4:c.376C>T, XM_011533137.3:c.376C>T, XM_011533137.2:c.376C>T, XM_011533137.1:c.376C>T, XM_011533138.4:c.187C>T, XM_011533138.3:c.187C>T, XM_011533138.2:c.187C>T, XM_011533138.1:c.187C>T, NM_152870.1:c.376C>T
16.
rs1486603749 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 2:27126974
(GRCh38)
2:27349842
(GRCh37)
- Canonical SPDI:
- NC_000002.12:27126973:T:G
- Gene:
- ABHD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0.0277/81
(KOREAN)
- HGVS:
17.
rs1486492317 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:27127458
(GRCh38)
2:27350326
(GRCh37)
- Canonical SPDI:
- NC_000002.12:27127457:G:A
- Gene:
- ABHD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000016/2
(GnomAD)
- HGVS:
18.
rs1485890875 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:27122843
(GRCh38)
2:27345711
(GRCh37)
- Canonical SPDI:
- NC_000002.12:27122842:C:T
- Gene:
- ABHD1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
19.
rs1485801052 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 2:27123788
(GRCh38)
2:27346656
(GRCh37)
- Canonical SPDI:
- NC_000002.12:27123787:C:A,NC_000002.12:27123787:C:T
- Gene:
- ABHD1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.00112/2
(Korea1K)
- HGVS:
20.
rs1485626815 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:27127541
(GRCh38)
2:27350409
(GRCh37)
- Canonical SPDI:
- NC_000002.12:27127540:G:A
- Gene:
- ABHD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00253/30
(
ALFA)
A=0.00007/2
(TOMMO)
A=0.00288/280
(GnomAD)
A=0.00344/22
(1000Genomes)
- HGVS: