SNP Links for Gene (Select 13) - SNP

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Select item 14913931171.

rs1491393117 [Homo sapiens]

Variant type:: INS
Alleles:: ->AC [Show Flanks]
Chromosome:: 3:151813740 (GRCh38)
3:151531529 (GRCh37)
Canonical SPDI:: NC_000003.12:151813740::AC
Gene:: AADAC (Varview), AADACL2-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: AC=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.151813740_151813741insAC, NC_000003.11:g.151531528_151531529insAC

Select item 14913423152.

rs1491342315 has merged into rs57922305 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:151818250 (GRCh38)
3:151536038 (GRCh37)
Canonical SPDI:: NC_000003.12:151818240:AAAAAAAAAAAAAAA:AAAAAAAAA,NC_000003.12:151818240:AAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:151818240:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:151818240:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:151818240:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:151818240:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:151818240:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:151818240:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:151818240:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: AADAC (Varview), AADACL2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
AA=0.3379/1692 (1000Genomes)
HGVS:: NC_000003.12:g.151818250_151818255del, NC_000003.12:g.151818251_151818255del, NC_000003.12:g.151818252_151818255del, NC_000003.12:g.151818253_151818255del, NC_000003.12:g.151818254_151818255del, NC_000003.12:g.151818255del, NC_000003.12:g.151818255dup, NC_000003.12:g.151818254_151818255dup, NC_000003.12:g.151818250_151818255dup, NC_000003.11:g.151536038_151536043del, NC_000003.11:g.151536039_151536043del, NC_000003.11:g.151536040_151536043del, NC_000003.11:g.151536041_151536043del, NC_000003.11:g.151536042_151536043del, NC_000003.11:g.151536043del, NC_000003.11:g.151536043dup, NC_000003.11:g.151536042_151536043dup, NC_000003.11:g.151536038_151536043dup

Select item 14912595993.

rs1491259599 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 3:151818240 (GRCh38)
3:151536028 (GRCh37)
Canonical SPDI:: NC_000003.12:151818239:CA:
Gene:: AADAC (Varview), AADACL2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00034/4 (ALFA)
HGVS:: NC_000003.12:g.151818240_151818241del, NC_000003.11:g.151536028_151536029del

Select item 14912496874.

rs1491249687 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT [Show Flanks]
Chromosome:: 3:151820517 (GRCh38)
3:151538306 (GRCh37)
Canonical SPDI:: NC_000003.12:151820517:TT:TTCTT
Gene:: AADAC (Varview), AADACL2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTCTT=0.00051/6 (ALFA)
TTC=0.00394/54 (GnomAD)
HGVS:: NC_000003.12:g.151820519_151820520insCTT, NC_000003.11:g.151538307_151538308insCTT

Select item 14912238535.

rs1491223853 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 3:151827448 (GRCh38)
3:151545236 (GRCh37)
Canonical SPDI:: NC_000003.12:151827447:TA:
Gene:: AADAC (Varview), AADACL2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000003.12:g.151827448_151827449del, NC_000003.11:g.151545236_151545237del

Select item 14912005166.

rs1491200516 has merged into rs34039248 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,TT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:151820526 (GRCh38)
3:151538314 (GRCh37)
Canonical SPDI:: NC_000003.12:151820516:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000003.12:151820516:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:151820516:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:151820516:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:151820516:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:151820516:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:151820516:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:151820516:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:151820516:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:151820516:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:151820516:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:151820516:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:151820516:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:151820516:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:151820516:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:151820516:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:151820516:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:151820516:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:151820516:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: AADAC (Varview), AADACL2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000003.12:g.151820526_151820535del, NC_000003.12:g.151820528_151820535del, NC_000003.12:g.151820531_151820535del, NC_000003.12:g.151820532_151820535del, NC_000003.12:g.151820533_151820535del, NC_000003.12:g.151820534_151820535del, NC_000003.12:g.151820535del, NC_000003.12:g.151820535dup, NC_000003.12:g.151820534_151820535dup, NC_000003.12:g.151820533_151820535dup, NC_000003.12:g.151820532_151820535dup, NC_000003.12:g.151820531_151820535dup, NC_000003.12:g.151820530_151820535dup, NC_000003.12:g.151820529_151820535dup, NC_000003.12:g.151820528_151820535dup, NC_000003.12:g.151820527_151820535dup, NC_000003.12:g.151820526_151820535dup, NC_000003.12:g.151820525_151820535dup, NC_000003.12:g.151820524_151820535dup, NC_000003.11:g.151538314_151538323del, NC_000003.11:g.151538316_151538323del, NC_000003.11:g.151538319_151538323del, NC_000003.11:g.151538320_151538323del, NC_000003.11:g.151538321_151538323del, NC_000003.11:g.151538322_151538323del, NC_000003.11:g.151538323del, NC_000003.11:g.151538323dup, NC_000003.11:g.151538322_151538323dup, NC_000003.11:g.151538321_151538323dup, NC_000003.11:g.151538320_151538323dup, NC_000003.11:g.151538319_151538323dup, NC_000003.11:g.151538318_151538323dup, NC_000003.11:g.151538317_151538323dup, NC_000003.11:g.151538316_151538323dup, NC_000003.11:g.151538315_151538323dup, NC_000003.11:g.151538314_151538323dup, NC_000003.11:g.151538313_151538323dup, NC_000003.11:g.151538312_151538323dup

Select item 14910548107.

rs1491054810 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTAT,GTATATATATGTAT [Show Flanks]
Chromosome:: 3:151813735 (GRCh38)
3:151531524 (GRCh37)
Canonical SPDI:: NC_000003.12:151813735:TAT:TATGTAT,NC_000003.12:151813735:TAT:TATGTATATATATGTAT
Gene:: AADAC (Varview), AADACL2-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: TATGTATATATATGTAT=0./0 (ALFA)
TATG=0.00012/3 (GnomAD)
HGVS:: NC_000003.12:g.151813738_151813739insGTAT, NC_000003.12:g.151813738_151813739insGTATATATATGTAT, NC_000003.11:g.151531526_151531527insGTAT, NC_000003.11:g.151531526_151531527insGTATATATATGTAT

Select item 14908275538.

rs1490827553 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:151828451 (GRCh38)
3:151546239 (GRCh37)
Canonical SPDI:: NC_000003.12:151828450:T:C
Gene:: AADAC (Varview), AADACL2-AS1 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000003.12:g.151828451T>C, NC_000003.11:g.151546239T>C, XM_005247104.5:c.*279T>C, XM_005247104.4:c.*279T>C, XM_005247104.3:c.*279T>C, XM_005247104.2:c.*279T>C, XM_005247104.1:c.*279T>C, NM_001086.3:c.*279T>C, NM_001086.2:c.*279T>C

Select item 14908091359.

rs1490809135 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:151827832 (GRCh38)
3:151545620 (GRCh37)
Canonical SPDI:: NC_000003.12:151827831:T:C
Gene:: AADAC (Varview), AADACL2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.151827832T>C, NC_000003.11:g.151545620T>C, XM_005247104.5:c.809T>C, XM_005247104.4:c.809T>C, XM_005247104.3:c.809T>C, XM_005247104.2:c.809T>C, XM_005247104.1:c.809T>C, NM_001086.3:c.860T>C, NM_001086.2:c.860T>C, XP_005247161.1:p.Leu270Pro, NP_001077.2:p.Leu287Pro

Select item 149069274310.

rs1490692743 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:151828340 (GRCh38)
3:151546128 (GRCh37)
Canonical SPDI:: NC_000003.12:151828339:A:T
Gene:: AADAC (Varview), AADACL2-AS1 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.151828340A>T, NC_000003.11:g.151546128A>T, XM_005247104.5:c.*168A>T, XM_005247104.4:c.*168A>T, XM_005247104.3:c.*168A>T, XM_005247104.2:c.*168A>T, XM_005247104.1:c.*168A>T, NM_001086.3:c.*168A>T, NM_001086.2:c.*168A>T

Select item 149062455911.

rs1490624559 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:151820115 (GRCh38)
3:151537903 (GRCh37)
Canonical SPDI:: NC_000003.12:151820114:T:C
Gene:: AADAC (Varview), AADACL2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.151820115T>C, NC_000003.11:g.151537903T>C

Select item 149042184612.

rs1490421846 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:151812579 (GRCh38)
3:151530367 (GRCh37)
Canonical SPDI:: NC_000003.12:151812578:G:C
Gene:: AADAC (Varview), AADACL2-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.151812579G>C, NC_000003.11:g.151530367G>C

Select item 149033389013.

rs1490333890 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 3:151826042 (GRCh38)
3:151543830 (GRCh37)
Canonical SPDI:: NC_000003.12:151826041:G:A,NC_000003.12:151826041:G:C,NC_000003.12:151826041:G:T
Gene:: AADAC (Varview), AADACL2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000003.12:g.151826042G>A, NC_000003.12:g.151826042G>C, NC_000003.12:g.151826042G>T, NC_000003.11:g.151543830G>A, NC_000003.11:g.151543830G>C, NC_000003.11:g.151543830G>T

Select item 149031377214.

rs1490313772 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:151817889 (GRCh38)
3:151535677 (GRCh37)
Canonical SPDI:: NC_000003.12:151817888:G:A
Gene:: AADAC (Varview), AADACL2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.151817889G>A, NC_000003.11:g.151535677G>A

Select item 149021300715.

rs1490213007 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:151816881 (GRCh38)
3:151534669 (GRCh37)
Canonical SPDI:: NC_000003.12:151816880:T:G
Gene:: AADAC (Varview), AADACL2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.151816881T>G, NC_000003.11:g.151534669T>G

Select item 148983530416.

rs1489835304 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:151818301 (GRCh38)
3:151536089 (GRCh37)
Canonical SPDI:: NC_000003.12:151818300:G:A
Gene:: AADAC (Varview), AADACL2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.151818301G>A, NC_000003.11:g.151536089G>A

Select item 148980816417.

rs1489808164 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:151819508 (GRCh38)
3:151537296 (GRCh37)
Canonical SPDI:: NC_000003.12:151819507:T:C
Gene:: AADAC (Varview), AADACL2-AS1 (Varview)
Functional Consequence:: 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:: NC_000003.12:g.151819508T>C, NC_000003.11:g.151537296T>C

Select item 148948872918.

rs1489488729 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:151820961 (GRCh38)
3:151538749 (GRCh37)
Canonical SPDI:: NC_000003.12:151820960:T:A
Gene:: AADAC (Varview), AADACL2-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:: NC_000003.12:g.151820961T>A, NC_000003.11:g.151538749T>A

Select item 148923575419.

rs1489235754 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 3:151824967 (GRCh38)
3:151542755 (GRCh37)
Canonical SPDI:: NC_000003.12:151824965:AAA:A
Gene:: AADAC (Varview), AADACL2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.151824967_151824968del, NC_000003.11:g.151542755_151542756del

Select item 148911765120.

rs1489117651 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:151817768 (GRCh38)
3:151535556 (GRCh37)
Canonical SPDI:: NC_000003.12:151817767:C:T
Gene:: AADAC (Varview), AADACL2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.151817768C>T, NC_000003.11:g.151535556C>T

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