Links from Gene
Items: 1 to 20 of 3754
1.
rs1490921399 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:49210150
(GRCh38)
17:47287512
(GRCh37)
- Canonical SPDI:
- NC_000017.11:49210149:T:C
- Gene:
- GNGT2 (Varview), ABI3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
2.
rs1490845398 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 17:49211149
(GRCh38)
17:47288511
(GRCh37)
- Canonical SPDI:
- NC_000017.11:49211148:C:G
- Gene:
- GNGT2 (Varview), ABI3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,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:
3.
rs1490658520 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 17:49218410
(GRCh38)
17:47295772
(GRCh37)
- Canonical SPDI:
- NC_000017.11:49218409:T:A
- Gene:
- ABI3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
4.
rs1490218681 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 17:49211852
(GRCh38)
17:47289214
(GRCh37)
- Canonical SPDI:
- NC_000017.11:49211851:A:C
- Gene:
- GNGT2 (Varview), ABI3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000021/3
(GnomAD)
C=0.000023/6
(TOPMED)
- HGVS:
5.
rs1490203701 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 17:49209210
(GRCh38)
17:47286572
(GRCh37)
- Canonical SPDI:
- NC_000017.11:49209209:G:A,NC_000017.11:49209209:G:T
- Gene:
- GNGT2 (Varview), ABI3 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000021/3
(GnomAD)
- HGVS:
6.
rs1489881521 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 17:49213360
(GRCh38)
17:47290722
(GRCh37)
- Canonical SPDI:
- NC_000017.11:49213359:T:A
- Gene:
- ABI3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000038/10
(TOPMED)
- HGVS:
8.
rs1489408466 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CATTGCAC>-
[Show Flanks]
- Chromosome:
- 17:49220803
(GRCh38)
17:47298165
(GRCh37)
- Canonical SPDI:
- NC_000017.11:49220801:CCATTGCAC:C
- Gene:
- ABI3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
9.
rs1489385249 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 17:49217122
(GRCh38)
17:47294484
(GRCh37)
- Canonical SPDI:
- NC_000017.11:49217121:G:T
- Gene:
- ABI3 (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:
10.
rs1489374795 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:49220037
(GRCh38)
17:47297399
(GRCh37)
- Canonical SPDI:
- NC_000017.11:49220036:C:T
- Gene:
- ABI3 (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:
11.
rs1488683468 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:49214342
(GRCh38)
17:47291704
(GRCh37)
- Canonical SPDI:
- NC_000017.11:49214341:G:A
- Gene:
- ABI3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000061/1
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000223/1
(Estonian)
- HGVS:
12.
rs1488368532 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:49214941
(GRCh38)
17:47292303
(GRCh37)
- Canonical SPDI:
- NC_000017.11:49214940:A:G
- Gene:
- ABI3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
13.
rs1488358887 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 17:49213956
(GRCh38)
17:47291318
(GRCh37)
- Canonical SPDI:
- NC_000017.11:49213955:T:G
- Gene:
- ABI3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
15.
rs1487674143 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:49210117
(GRCh38)
17:47287479
(GRCh37)
- Canonical SPDI:
- NC_000017.11:49210116:G:A
- Gene:
- GNGT2 (Varview), ABI3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
16.
rs1487467791 has merged into rs71144583 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 17:49218780
(GRCh38)
17:47296142
(GRCh37)
- Canonical SPDI:
- NC_000017.11:49218770:TTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000017.11:49218770:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:49218770:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:49218770:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:49218770:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:49218770:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:49218770:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:49218770:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:49218770:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:49218770:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:49218770:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:49218770:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:49218770:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:49218770:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:49218770:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:49218770:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:49218770:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:49218770:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:49218770:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:49218770:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:49218770:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:49218770:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:49218770:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:49218770:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:49218770:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:49218770:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ABI3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
TTTTTTTT=0.0264/98
(TWINSUK)
TTTTTTTT=0.0535/206
(ALSPAC)
- HGVS:
NC_000017.11:g.49218780_49218788del, NC_000017.11:g.49218781_49218788del, NC_000017.11:g.49218782_49218788del, NC_000017.11:g.49218783_49218788del, NC_000017.11:g.49218784_49218788del, NC_000017.11:g.49218786_49218788del, NC_000017.11:g.49218787_49218788del, NC_000017.11:g.49218788del, NC_000017.11:g.49218788dup, NC_000017.11:g.49218787_49218788dup, NC_000017.11:g.49218786_49218788dup, NC_000017.11:g.49218785_49218788dup, NC_000017.11:g.49218784_49218788dup, NC_000017.11:g.49218783_49218788dup, NC_000017.11:g.49218782_49218788dup, NC_000017.11:g.49218781_49218788dup, NC_000017.11:g.49218779_49218788dup, NC_000017.11:g.49218778_49218788dup, NC_000017.11:g.49218776_49218788dup, NC_000017.11:g.49218775_49218788dup, NC_000017.11:g.49218774_49218788dup, NC_000017.11:g.49218773_49218788dup, NC_000017.11:g.49218772_49218788dup, NC_000017.11:g.49218771_49218788dup, NC_000017.11:g.49218788_49218789insTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.49218788_49218789insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.47296142_47296150del, NC_000017.10:g.47296143_47296150del, NC_000017.10:g.47296144_47296150del, NC_000017.10:g.47296145_47296150del, NC_000017.10:g.47296146_47296150del, NC_000017.10:g.47296148_47296150del, NC_000017.10:g.47296149_47296150del, NC_000017.10:g.47296150del, NC_000017.10:g.47296150dup, NC_000017.10:g.47296149_47296150dup, NC_000017.10:g.47296148_47296150dup, NC_000017.10:g.47296147_47296150dup, NC_000017.10:g.47296146_47296150dup, NC_000017.10:g.47296145_47296150dup, NC_000017.10:g.47296144_47296150dup, NC_000017.10:g.47296143_47296150dup, NC_000017.10:g.47296141_47296150dup, NC_000017.10:g.47296140_47296150dup, NC_000017.10:g.47296138_47296150dup, NC_000017.10:g.47296137_47296150dup, NC_000017.10:g.47296136_47296150dup, NC_000017.10:g.47296135_47296150dup, NC_000017.10:g.47296134_47296150dup, NC_000017.10:g.47296133_47296150dup, NC_000017.10:g.47296150_47296151insTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.47296150_47296151insTTTTTTTTTTTTTTTTTTTTTTTT
17.
rs1487356968 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:49222103
(GRCh38)
17:47299465
(GRCh37)
- Canonical SPDI:
- NC_000017.11:49222102:C:T
- Gene:
- ABI3 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
NC_000017.11:g.49222103C>T, NC_000017.10:g.47299465C>T, XM_005257429.3:c.836C>T, XM_005257429.2:c.836C>T, XM_005257429.1:c.836C>T, NM_016428.3:c.815C>T, NM_016428.2:c.815C>T, XM_011524873.2:c.833C>T, XM_011524873.1:c.833C>T, XM_017024721.2:c.812C>T, XM_017024721.1:c.812C>T, NM_001135186.2:c.797C>T, NM_001135186.1:c.797C>T, XP_005257486.1:p.Pro279Leu, NP_057512.2:p.Pro272Leu, XP_011523175.1:p.Pro278Leu, XP_016880210.1:p.Pro271Leu, NP_001128658.2:p.Pro266Leu
19.
rs1487085800 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:49219110
(GRCh38)
17:47296472
(GRCh37)
- Canonical SPDI:
- NC_000017.11:49219109:C:T
- Gene:
- ABI3 (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)
T=0.000071/1
(TOMMO)
- HGVS:
20.
rs1486824399 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G,T
[Show Flanks]
- Chromosome:
- 17:49220726
(GRCh38)
17:47298088
(GRCh37)
- Canonical SPDI:
- NC_000017.11:49220725:A:C,NC_000017.11:49220725:A:G,NC_000017.11:49220725:A:T
- Gene:
- ABI3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS: