Links from Gene
Items: 1 to 20 of 12148
1.
rs1491580672 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 13:105467730
(GRCh38)
13:106120080
(GRCh37)
- Canonical SPDI:
- NC_000013.11:105467730::G
- Gene:
- DAOA (Varview), DAOA-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.0002/8
(GnomAD)
- HGVS:
2.
rs1491577152 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 13:105487603
(GRCh38)
13:106139953
(GRCh37)
- Canonical SPDI:
- NC_000013.11:105487603::G
- Gene:
- DAOA (Varview), DAOA-AS1 (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:
3.
rs1491555197 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,TTT,TTTT,TTTTTT
[Show Flanks]
- Chromosome:
- 13:105486629
(GRCh38)
13:106138978
(GRCh37)
- Canonical SPDI:
- NC_000013.11:105486621:TTTTTTTTT:TTTTTTT,NC_000013.11:105486621:TTTTTTTTT:TTTTTTTTTT,NC_000013.11:105486621:TTTTTTTTT:TTTTTTTTTTT,NC_000013.11:105486621:TTTTTTTTT:TTTTTTTTTTTTT
- Gene:
- DAOA (Varview), DAOA-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTT=0./0
(
ALFA)
-=0.00006/1
(TOMMO)
- HGVS:
NC_000013.11:g.105486629_105486630del, NC_000013.11:g.105486630dup, NC_000013.11:g.105486629_105486630dup, NC_000013.11:g.105486627_105486630dup, NC_000013.10:g.106138978_106138979del, NC_000013.10:g.106138979dup, NC_000013.10:g.106138978_106138979dup, NC_000013.10:g.106138976_106138979dup, NG_012694.1:g.25763_25764del, NG_012694.1:g.25764dup, NG_012694.1:g.25763_25764dup, NG_012694.1:g.25761_25764dup
4.
rs1491397625 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 13:105498772
(GRCh38)
13:106151121
(GRCh37)
- Canonical SPDI:
- NC_000013.11:105498771:GA:
- Gene:
- DAOA-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00001/1
(GnomAD)
- HGVS:
5.
rs1491380633 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 13:105473179
(GRCh38)
13:106125528
(GRCh37)
- Canonical SPDI:
- NC_000013.11:105473177:TTT:T
- Gene:
- DAOA (Varview), DAOA-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
-=0.000029/4
(GnomAD)
- HGVS:
6.
rs1491067035 has merged into rs11441420 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,A,AAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 13:105502579
(GRCh38)
13:106154928
(GRCh37)
- Canonical SPDI:
- NC_000013.11:105502566:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:105502566:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:105502566:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:105502566:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000013.11:105502566:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:105502566:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000013.11:105502566:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000013.11:105502566:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:105502566:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:105502566:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:105502566:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:105502566:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:105502566:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:105502566:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- DAOA-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000013.11:g.105502579_105502585del, NC_000013.11:g.105502580_105502585del, NC_000013.11:g.105502582_105502585del, NC_000013.11:g.105502584_105502585del, NC_000013.11:g.105502585del, NC_000013.11:g.105502585dup, NC_000013.11:g.105502584_105502585dup, NC_000013.11:g.105502583_105502585dup, NC_000013.11:g.105502582_105502585dup, NC_000013.11:g.105502581_105502585dup, NC_000013.11:g.105502580_105502585dup, NC_000013.11:g.105502579_105502585dup, NC_000013.11:g.105502578_105502585dup, NC_000013.11:g.105502577_105502585dup, NC_000013.10:g.106154928_106154934del, NC_000013.10:g.106154929_106154934del, NC_000013.10:g.106154931_106154934del, NC_000013.10:g.106154933_106154934del, NC_000013.10:g.106154934del, NC_000013.10:g.106154934dup, NC_000013.10:g.106154933_106154934dup, NC_000013.10:g.106154932_106154934dup, NC_000013.10:g.106154931_106154934dup, NC_000013.10:g.106154930_106154934dup, NC_000013.10:g.106154929_106154934dup, NC_000013.10:g.106154928_106154934dup, NC_000013.10:g.106154927_106154934dup, NC_000013.10:g.106154926_106154934dup
7.
rs1491052373 has merged into rs71114923 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTT>-,T,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 13:105467591
(GRCh38)
13:106119940
(GRCh37)
- Canonical SPDI:
- NC_000013.11:105467583:TTTTTTTTTTTTTTTT:TTTTTTT,NC_000013.11:105467583:TTTTTTTTTTTTTTTT:TTTTTTTT,NC_000013.11:105467583:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000013.11:105467583:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:105467583:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:105467583:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:105467583:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000013.11:105467583:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000013.11:105467583:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000013.11:105467583:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:105467583:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:105467583:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- DAOA (Varview), DAOA-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000013.11:g.105467591_105467599del, NC_000013.11:g.105467592_105467599del, NC_000013.11:g.105467597_105467599del, NC_000013.11:g.105467598_105467599del, NC_000013.11:g.105467599del, NC_000013.11:g.105467599dup, NC_000013.11:g.105467598_105467599dup, NC_000013.11:g.105467597_105467599dup, NC_000013.11:g.105467595_105467599dup, NC_000013.11:g.105467593_105467599dup, NC_000013.11:g.105467592_105467599dup, NC_000013.11:g.105467590_105467599dup, NC_000013.10:g.106119940_106119948del, NC_000013.10:g.106119941_106119948del, NC_000013.10:g.106119946_106119948del, NC_000013.10:g.106119947_106119948del, NC_000013.10:g.106119948del, NC_000013.10:g.106119948dup, NC_000013.10:g.106119947_106119948dup, NC_000013.10:g.106119946_106119948dup, NC_000013.10:g.106119944_106119948dup, NC_000013.10:g.106119942_106119948dup, NC_000013.10:g.106119941_106119948dup, NC_000013.10:g.106119939_106119948dup, NG_012694.1:g.6725_6733del, NG_012694.1:g.6726_6733del, NG_012694.1:g.6731_6733del, NG_012694.1:g.6732_6733del, NG_012694.1:g.6733del, NG_012694.1:g.6733dup, NG_012694.1:g.6732_6733dup, NG_012694.1:g.6731_6733dup, NG_012694.1:g.6729_6733dup, NG_012694.1:g.6727_6733dup, NG_012694.1:g.6726_6733dup, NG_012694.1:g.6724_6733dup
8.
rs1491008020 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CA
[Show Flanks]
- Chromosome:
- 13:105498788
(GRCh38)
13:106151138
(GRCh37)
- Canonical SPDI:
- NC_000013.11:105498788:ACA:ACACA
- Gene:
- DAOA-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACA=0./0
(
ALFA)
AC=0.000004/1
(TOPMED)
AC=0.000008/1
(GnomAD)
- HGVS:
9.
rs1490989237 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 13:105477954
(GRCh38)
13:106130303
(GRCh37)
- Canonical SPDI:
- NC_000013.11:105477953:T:G
- Gene:
- DAOA (Varview), DAOA-AS1 (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:
10.
rs1490907366 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 13:105489942
(GRCh38)
13:106142291
(GRCh37)
- Canonical SPDI:
- NC_000013.11:105489941:C:A
- Gene:
- DAOA (Varview), DAOA-AS1 (Varview)
- Functional Consequence:
- coding_sequence_variant,non_coding_transcript_variant,missense_variant,3_prime_UTR_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000013.11:g.105489942C>A, NC_000013.10:g.106142291C>A, NG_012694.1:g.29076C>A, NM_172370.5:c.323C>A, NM_172370.4:c.323C>A, NM_001384644.1:c.*36C>A, NM_001161814.1:c.110C>A, NM_001384646.1:c.110C>A, NM_001384645.1:c.116C>A, NM_001161812.1:c.239C>A, NR_040247.1:n.339G>T, NM_172368.1:c.-20G>T, NP_758958.3:p.Ala108Glu, NP_001155286.1:p.Ala37Glu, NP_001371575.1:p.Ala37Glu, NP_001371574.1:p.Ala39Glu, NP_001155284.1:p.Ala80Glu
11.
rs1490862526 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CAG>-
[Show Flanks]
- Chromosome:
- 13:105503588
(GRCh38)
13:106155937
(GRCh37)
- Canonical SPDI:
- NC_000013.11:105503584:CAGCAG:CAG
- Gene:
- DAOA-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CAGCAG=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
12.
rs1490844389 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 13:105500992
(GRCh38)
13:106153341
(GRCh37)
- Canonical SPDI:
- NC_000013.11:105500991:T:C
- Gene:
- DAOA-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
13.
rs1490702249 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 13:105484034
(GRCh38)
13:106136383
(GRCh37)
- Canonical SPDI:
- NC_000013.11:105484033:A:G
- Gene:
- DAOA (Varview), DAOA-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
14.
rs1490669277 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 13:105487915
(GRCh38)
13:106140264
(GRCh37)
- Canonical SPDI:
- NC_000013.11:105487914:G:T
- Gene:
- DAOA (Varview), DAOA-AS1 (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:
15.
rs1490625697 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 13:105485944
(GRCh38)
13:106138293
(GRCh37)
- Canonical SPDI:
- NC_000013.11:105485943:T:C
- Gene:
- DAOA (Varview), DAOA-AS1 (Varview)
- Functional Consequence:
- intron_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:
16.
rs1490602147 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 13:105497927
(GRCh38)
13:106150276
(GRCh37)
- Canonical SPDI:
- NC_000013.11:105497926:TT:T
- Gene:
- DAOA-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
17.
rs1490553524 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 13:105464586
(GRCh38)
13:106116935
(GRCh37)
- Canonical SPDI:
- NC_000013.11:105464585:G:C
- Gene:
- DAOA (Varview), DAOA-AS1 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
18.
rs1490527783 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 13:105463614
(GRCh38)
13:106115963
(GRCh37)
- Canonical SPDI:
- NC_000013.11:105463613:A:G
- Gene:
- DAOA-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
19.
rs1490365467 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 13:105505002
(GRCh38)
13:106157351
(GRCh37)
- Canonical SPDI:
- NC_000013.11:105505001:C:A,NC_000013.11:105505001:C:T
- Gene:
- DAOA-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
20.
rs1490349068 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 13:105496271
(GRCh38)
13:106148620
(GRCh37)
- Canonical SPDI:
- NC_000013.11:105496270:C:A
- Gene:
- DAOA-AS1 (Varview)
- Functional Consequence:
- 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: