SNP Links for Gene (Select 28976) - SNP

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Select item 14915448851.

rs1491544885 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 3:128889180 (GRCh38)
3:128608023 (GRCh37)
Canonical SPDI:: NC_000003.12:128889178:ACA:A
Gene:: ACAD9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000253/3 (ALFA)
-=0.000494/69 (GnomAD)
HGVS:: NC_000003.12:g.128889180_128889181del, NC_000003.11:g.128608023_128608024del, NG_017064.1:g.14691_14692del

Select item 14915000842.

rs1491500084 has merged into rs138817276 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:128894882 (GRCh38)
3:128613725 (GRCh37)
Canonical SPDI:: NC_000003.12:128894872:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000003.12:128894872:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:128894872:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:128894872:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:128894872:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:128894872:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:128894872:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:128894872:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:128894872:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:128894872:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:128894872:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:128894872:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:128894872:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:128894872:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:128894872:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:128894872:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ACAD9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
TT=0.475/19 (GENOME_DK)
HGVS:: NC_000003.12:g.128894882_128894894del, NC_000003.12:g.128894883_128894894del, NC_000003.12:g.128894888_128894894del, NC_000003.12:g.128894889_128894894del, NC_000003.12:g.128894890_128894894del, NC_000003.12:g.128894891_128894894del, NC_000003.12:g.128894892_128894894del, NC_000003.12:g.128894893_128894894del, NC_000003.12:g.128894894del, NC_000003.12:g.128894894dup, NC_000003.12:g.128894893_128894894dup, NC_000003.12:g.128894892_128894894dup, NC_000003.12:g.128894891_128894894dup, NC_000003.12:g.128894890_128894894dup, NC_000003.12:g.128894889_128894894dup, NC_000003.12:g.128894888_128894894dup, NC_000003.11:g.128613725_128613737del, NC_000003.11:g.128613726_128613737del, NC_000003.11:g.128613731_128613737del, NC_000003.11:g.128613732_128613737del, NC_000003.11:g.128613733_128613737del, NC_000003.11:g.128613734_128613737del, NC_000003.11:g.128613735_128613737del, NC_000003.11:g.128613736_128613737del, NC_000003.11:g.128613737del, NC_000003.11:g.128613737dup, NC_000003.11:g.128613736_128613737dup, NC_000003.11:g.128613735_128613737dup, NC_000003.11:g.128613734_128613737dup, NC_000003.11:g.128613733_128613737dup, NC_000003.11:g.128613732_128613737dup, NC_000003.11:g.128613731_128613737dup, NG_017064.1:g.20393_20405del, NG_017064.1:g.20394_20405del, NG_017064.1:g.20399_20405del, NG_017064.1:g.20400_20405del, NG_017064.1:g.20401_20405del, NG_017064.1:g.20402_20405del, NG_017064.1:g.20403_20405del, NG_017064.1:g.20404_20405del, NG_017064.1:g.20405del, NG_017064.1:g.20405dup, NG_017064.1:g.20404_20405dup, NG_017064.1:g.20403_20405dup, NG_017064.1:g.20402_20405dup, NG_017064.1:g.20401_20405dup, NG_017064.1:g.20400_20405dup, NG_017064.1:g.20399_20405dup

Select item 14913823053.

rs1491382305 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 3:128879626 (GRCh38)
3:128598469 (GRCh37)
Canonical SPDI:: NC_000003.12:128879625:CG:
Gene:: ACAD9 (Varview), ACAD9-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000019/4 (GnomAD_exomes)
-=0.00002/2 (ExAC)
-=0.000023/6 (TOPMED)
-=0.000028/3 (GnomAD)
HGVS:: NC_000003.12:g.128879626_128879627del, NC_000003.11:g.128598469_128598470del, NG_017064.1:g.5137_5138del, NM_014049.5:c.-66_-65del, NM_014049.4:c.-66_-65del, NR_033426.2:n.7_8del, NR_033426.1:n.137_138del, NM_001410805.1:c.-341_-340del, XR_427367.4:n.7_8del, XR_427367.3:n.7_8del, XR_427367.2:n.7_8del, XR_427367.1:n.7_8del, XM_024453485.2:c.-341_-340del

Select item 14912685824.

rs1491268582 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 3:128899523 (GRCh38)
3:128618366 (GRCh37)
Canonical SPDI:: NC_000003.12:128899522:GG:
Gene:: ACAD9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00046/8 (TOMMO)
-=0.00208/184 (GnomAD)
HGVS:: NC_000003.12:g.128899523_128899524del, NC_000003.11:g.128618366_128618367del, NG_017064.1:g.25034_25035del

Select item 14912470125.

rs1491247012 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 3:128889179 (GRCh38)
3:128608023 (GRCh37)
Canonical SPDI:: NC_000003.12:128889179:C:CC
Gene:: ACAD9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.128889180dup, NC_000003.11:g.128608023dup, NG_017064.1:g.14691dup

Select item 14911475856.

rs1491147585 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 3:128894873 (GRCh38)
3:128613717 (GRCh37)
Canonical SPDI:: NC_000003.12:128894873::A
Gene:: ACAD9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000003.12:g.128894873_128894874insA, NC_000003.11:g.128613716_128613717insA, NG_017064.1:g.20384_20385insA

Select item 14911112827.

rs1491111282 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 3:128912829 (GRCh38)
3:128631672 (GRCh37)
Canonical SPDI:: NC_000003.12:128912828:GG:
Gene:: ACAD9 (Varview), CFAP92 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000782/18 (ALFA)
-=0.000411/46 (ExAC)
-=0.000415/58 (GnomAD)
-=0.000427/99 (GnomAD_exomes)
-=0.00048/127 (TOPMED)
-=0.038157/405 (GoESP)
HGVS:: NC_000003.12:g.128912829_128912830del, NC_000003.11:g.128631672_128631673del, NG_017064.1:g.38340_38341del, NM_014049.5:c.*222_*223del, NM_014049.4:c.*222_*223del, NR_033426.2:n.2336_2337del, NR_033426.1:n.2466_2467del, NM_001410805.1:c.*222_*223del, XM_024453485.2:c.*222_*223del, XM_024453484.2:c.*222_*223del, XM_024453484.1:c.*222_*223del

Select item 14910142428.

rs1491014242 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 3:128899563 (GRCh38)
3:128618406 (GRCh37)
Canonical SPDI:: NC_000003.12:128899562:TA:
Gene:: ACAD9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000022/3 (GnomAD)
HGVS:: NC_000003.12:g.128899563_128899564del, NC_000003.11:g.128618406_128618407del, NG_017064.1:g.25074_25075del

Select item 14909752699.

rs1490975269 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:128909846 (GRCh38)
3:128628689 (GRCh37)
Canonical SPDI:: NC_000003.12:128909845:A:G
Gene:: ACAD9 (Varview), CFAP92 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.128909846A>G, NC_000003.11:g.128628689A>G, NG_017064.1:g.35357A>G

Select item 149095092710.

rs1490950927 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:128903660 (GRCh38)
3:128622503 (GRCh37)
Canonical SPDI:: NC_000003.12:128903659:G:A
Gene:: ACAD9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.128903660G>A, NC_000003.11:g.128622503G>A, NG_017064.1:g.29171G>A

Select item 149084998111.

rs1490849981 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:128894991 (GRCh38)
3:128613834 (GRCh37)
Canonical SPDI:: NC_000003.12:128894990:C:T
Gene:: ACAD9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.128894991C>T, NC_000003.11:g.128613834C>T, NG_017064.1:g.20502C>T

Select item 149083251012.

rs1490832510 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 3:128901663 (GRCh38)
3:128620506 (GRCh37)
Canonical SPDI:: NC_000003.12:128901662:C:A,NC_000003.12:128901662:C:T
Gene:: ACAD9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.128901663C>A, NC_000003.12:g.128901663C>T, NC_000003.11:g.128620506C>A, NC_000003.11:g.128620506C>T, NG_017064.1:g.27174C>A, NG_017064.1:g.27174C>T

Select item 149081964613.

rs1490819646 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 3:128888956 (GRCh38)
3:128607799 (GRCh37)
Canonical SPDI:: NC_000003.12:128888950:CACACAC:CACAC
Gene:: ACAD9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACAC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.128888952AC[2], NC_000003.11:g.128607795AC[2], NG_017064.1:g.14463AC[2]

Select item 149055578314.

rs1490555783 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:128888176 (GRCh38)
3:128607019 (GRCh37)
Canonical SPDI:: NC_000003.12:128888175:A:G
Gene:: ACAD9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.128888176A>G, NC_000003.11:g.128607019A>G, NG_017064.1:g.13687A>G

Select item 149055035015.

rs1490550350 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:128886381 (GRCh38)
3:128605224 (GRCh37)
Canonical SPDI:: NC_000003.12:128886380:G:A
Gene:: ACAD9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000029/4 (GnomAD)
A=0.000071/1 (TOMMO)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000003.12:g.128886381G>A, NC_000003.11:g.128605224G>A, NG_017064.1:g.11892G>A

Select item 149045347016.

rs1490453470 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 3:128910958 (GRCh38)
3:128629801 (GRCh37)
Canonical SPDI:: NC_000003.12:128910957:GGG:GG
Gene:: ACAD9 (Varview), CFAP92 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.128910960del, NC_000003.11:g.128629803del, NG_017064.1:g.36471del

Select item 149036932217.

rs1490369322 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:128904792 (GRCh38)
3:128623635 (GRCh37)
Canonical SPDI:: NC_000003.12:128904791:C:T
Gene:: ACAD9 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.128904792C>T, NC_000003.11:g.128623635C>T, NG_017064.1:g.30303C>T

Select item 149015146418.

rs1490151464 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 3:128883104 (GRCh38)
3:128601947 (GRCh37)
Canonical SPDI:: NC_000003.12:128883103:C:A,NC_000003.12:128883103:C:T
Gene:: ACAD9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.128883104C>A, NC_000003.12:g.128883104C>T, NC_000003.11:g.128601947C>A, NC_000003.11:g.128601947C>T, NG_017064.1:g.8615C>A, NG_017064.1:g.8615C>T

Select item 149006591819.

rs1490065918 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 3:128903217 (GRCh38)
3:128622060 (GRCh37)
Canonical SPDI:: NC_000003.12:128903216:GGGG:GGG,NC_000003.12:128903216:GGGG:GGGGG
Gene:: ACAD9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.128903220del, NC_000003.12:g.128903220dup, NC_000003.11:g.128622063del, NC_000003.11:g.128622063dup, NG_017064.1:g.28731del, NG_017064.1:g.28731dup, NG_083127.1:g.1227del, NG_083127.1:g.1227dup

Select item 148987940320.

rs1489879403 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:128882292 (GRCh38)
3:128601135 (GRCh37)
Canonical SPDI:: NC_000003.12:128882291:C:G
Gene:: ACAD9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000026/7 (TOPMED)
HGVS:: NC_000003.12:g.128882292C>G, NC_000003.11:g.128601135C>G, NG_017064.1:g.7803C>G

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