Links from Gene
Items: 1 to 20 of 1000
1.
rs1491480614 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 9:113392816
(GRCh38)
9:116155097
(GRCh37)
- Canonical SPDI:
- NC_000009.12:113392816::C
- Gene:
- ALAD (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.00008/1
(
ALFA)
C=0.00011/3
(GnomAD)
- HGVS:
2.
rs1491236829 has merged into rs34148636 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTT>-,T,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 9:113392825
(GRCh38)
9:116155105
(GRCh37)
- Canonical SPDI:
- NC_000009.12:113392815:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000009.12:113392815:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000009.12:113392815:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:113392815:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:113392815:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:113392815:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:113392815:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:113392815:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:113392815:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:113392815:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:113392815:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:113392815:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:113392815:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:113392815:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:113392815:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:113392815:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:113392815:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:113392815:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:113392815:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ALAD (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTT=0./0
(
ALFA)
-=0.0038/14
(TWINSUK)
-=0.0039/15
(ALSPAC)
- HGVS:
NC_000009.12:g.113392825_113392835del, NC_000009.12:g.113392826_113392835del, NC_000009.12:g.113392830_113392835del, NC_000009.12:g.113392831_113392835del, NC_000009.12:g.113392832_113392835del, NC_000009.12:g.113392833_113392835del, NC_000009.12:g.113392834_113392835del, NC_000009.12:g.113392835del, NC_000009.12:g.113392835dup, NC_000009.12:g.113392834_113392835dup, NC_000009.12:g.113392833_113392835dup, NC_000009.12:g.113392832_113392835dup, NC_000009.12:g.113392831_113392835dup, NC_000009.12:g.113392830_113392835dup, NC_000009.12:g.113392829_113392835dup, NC_000009.12:g.113392828_113392835dup, NC_000009.12:g.113392827_113392835dup, NC_000009.12:g.113392825_113392835dup, NC_000009.12:g.113392822_113392835dup, NC_000009.11:g.116155105_116155115del, NC_000009.11:g.116155106_116155115del, NC_000009.11:g.116155110_116155115del, NC_000009.11:g.116155111_116155115del, NC_000009.11:g.116155112_116155115del, NC_000009.11:g.116155113_116155115del, NC_000009.11:g.116155114_116155115del, NC_000009.11:g.116155115del, NC_000009.11:g.116155115dup, NC_000009.11:g.116155114_116155115dup, NC_000009.11:g.116155113_116155115dup, NC_000009.11:g.116155112_116155115dup, NC_000009.11:g.116155111_116155115dup, NC_000009.11:g.116155110_116155115dup, NC_000009.11:g.116155109_116155115dup, NC_000009.11:g.116155108_116155115dup, NC_000009.11:g.116155107_116155115dup, NC_000009.11:g.116155105_116155115dup, NC_000009.11:g.116155102_116155115dup, NG_008716.1:g.13513_13523del, NG_008716.1:g.13514_13523del, NG_008716.1:g.13518_13523del, NG_008716.1:g.13519_13523del, NG_008716.1:g.13520_13523del, NG_008716.1:g.13521_13523del, NG_008716.1:g.13522_13523del, NG_008716.1:g.13523del, NG_008716.1:g.13523dup, NG_008716.1:g.13522_13523dup, NG_008716.1:g.13521_13523dup, NG_008716.1:g.13520_13523dup, NG_008716.1:g.13519_13523dup, NG_008716.1:g.13518_13523dup, NG_008716.1:g.13517_13523dup, NG_008716.1:g.13516_13523dup, NG_008716.1:g.13515_13523dup, NG_008716.1:g.13513_13523dup, NG_008716.1:g.13510_13523dup
3.
rs1490656654 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 9:113386778
(GRCh38)
9:116149058
(GRCh37)
- Canonical SPDI:
- NC_000009.12:113386777:T:A
- Gene:
- ALAD (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
NC_000009.12:g.113386778T>A, NC_000009.11:g.116149058T>A, NG_008716.1:g.19561A>T, NM_000031.6:c.*1522A>T, NM_000031.5:c.*1522A>T, NM_001003945.3:c.*1522A>T, NM_001003945.2:c.*1522A>T, NM_001003945.1:c.*1522A>T, NM_001317745.2:c.*1522A>T, NM_001317745.1:c.*1522A>T, XM_011518364.3:c.*1522A>T, XM_011518364.2:c.*1522A>T, XM_011518364.1:c.*1522A>T, XM_047422945.1:c.*1522A>T, XM_047422944.1:c.*1522A>T, XM_047422946.1:c.*1522A>T, XM_047422947.1:c.*1522A>T
4.
rs1490600841 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:113386888
(GRCh38)
9:116149168
(GRCh37)
- Canonical SPDI:
- NC_000009.12:113386887:C:T
- Gene:
- ALAD (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
NC_000009.12:g.113386888C>T, NC_000009.11:g.116149168C>T, NG_008716.1:g.19451G>A, NM_000031.6:c.*1412G>A, NM_000031.5:c.*1412G>A, NM_001003945.3:c.*1412G>A, NM_001003945.2:c.*1412G>A, NM_001003945.1:c.*1412G>A, NM_001317745.2:c.*1412G>A, NM_001317745.1:c.*1412G>A, XM_011518364.3:c.*1412G>A, XM_011518364.2:c.*1412G>A, XM_011518364.1:c.*1412G>A, XM_047422945.1:c.*1412G>A, XM_047422944.1:c.*1412G>A, XM_047422946.1:c.*1412G>A, XM_047422947.1:c.*1412G>A
5.
rs1490373342 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:113402082
(GRCh38)
9:116164362
(GRCh37)
- Canonical SPDI:
- NC_000009.12:113402081:G:A
- Gene:
- ALAD (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
6.
rs1490287048 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 9:113395641
(GRCh38)
9:116157921
(GRCh37)
- Canonical SPDI:
- NC_000009.12:113395640:C:G,NC_000009.12:113395640:C:T
- Gene:
- ALAD (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
7.
rs1490243833 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:113395091
(GRCh38)
9:116157371
(GRCh37)
- Canonical SPDI:
- NC_000009.12:113395090:T:C
- Gene:
- ALAD (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000224/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000223/1
(Estonian)
- HGVS:
8.
rs1489884109 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:113402488
(GRCh38)
9:116164768
(GRCh37)
- Canonical SPDI:
- NC_000009.12:113402487:T:C
- Gene:
- ALAD (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000023/6
(TOPMED)
- HGVS:
9.
rs1489431842 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 9:113396289
(GRCh38)
9:116158569
(GRCh37)
- Canonical SPDI:
- NC_000009.12:113396288:G:T
- Gene:
- ALAD (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000342/1
(KOREAN)
- HGVS:
10.
rs1489165867 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:113393168
(GRCh38)
9:116155448
(GRCh37)
- Canonical SPDI:
- NC_000009.12:113393167:C:T
- Gene:
- ALAD (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.
rs1488551477 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 9:113388790
(GRCh38)
9:116151070
(GRCh37)
- Canonical SPDI:
- NC_000009.12:113388787:CTCT:CT
- Gene:
- ALAD (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CTCT=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
12.
rs1488209931 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 9:113397327
(GRCh38)
9:116159607
(GRCh37)
- Canonical SPDI:
- NC_000009.12:113397326:C:A
- Gene:
- ALAD (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.00003/8
(TOPMED)
- HGVS:
13.
rs1488114112 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 9:113401437
(GRCh38)
9:116163717
(GRCh37)
- Canonical SPDI:
- NC_000009.12:113401436:T:A
- Gene:
- ALAD (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:
14.
rs1488038601 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 9:113390141
(GRCh38)
9:116152421
(GRCh37)
- Canonical SPDI:
- NC_000009.12:113390140:C:A
- Gene:
- ALAD (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
16.
rs1487832298 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:113397045
(GRCh38)
9:116159325
(GRCh37)
- Canonical SPDI:
- NC_000009.12:113397044:C:T
- Gene:
- ALAD (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,splice_donor_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
17.
rs1487596944 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:113390149
(GRCh38)
9:116152429
(GRCh37)
- Canonical SPDI:
- NC_000009.12:113390148:G:A
- Gene:
- ALAD (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
18.
rs1487138329 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:113397942
(GRCh38)
9:116160222
(GRCh37)
- Canonical SPDI:
- NC_000009.12:113397941:T:C
- Gene:
- ALAD (Varview)
- Functional Consequence:
- genic_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:
19.
rs1487026320 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:113400706
(GRCh38)
9:116162986
(GRCh37)
- Canonical SPDI:
- NC_000009.12:113400705:C:T
- Gene:
- ALAD (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
20.
rs1486979091 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:113398566
(GRCh38)
9:116160846
(GRCh37)
- Canonical SPDI:
- NC_000009.12:113398565:G:A
- Gene:
- ALAD (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS: