SNP Links for Gene (Select 1744) - SNP

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Select item 14911098331.

rs1491109833 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 1:75742919 (GRCh38)
1:76208604 (GRCh37)
Canonical SPDI:: NC_000001.11:75742917:CAC:C
Gene:: ACADM (Varview), DLSTP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.255928/1144 (ALFA)
-=0.031283/524 (TOMMO)
-=0.178638/1144 (1000Genomes)
-=0.236765/33176 (GnomAD)
-=0.281667/169 (NorthernSweden)
HGVS:: NC_000001.11:g.75742919_75742920del, NC_000001.10:g.76208604_76208605del, NG_007045.2:g.23562_23563del, NR_130749.1:n.2095_2096del

Select item 14901143242.

rs1490114324 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:75745445 (GRCh38)
1:76211130 (GRCh37)
Canonical SPDI:: NC_000001.11:75745444:C:T
Gene:: ACADM (Varview), DLSTP1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.75745445C>T, NC_000001.10:g.76211130C>T, NG_007045.2:g.26088C>T

Select item 14901043053.

rs1490104305 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:75745860 (GRCh38)
1:76211545 (GRCh37)
Canonical SPDI:: NC_000001.11:75745859:C:T
Gene:: ACADM (Varview), DLSTP1 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.75745860C>T, NC_000001.10:g.76211545C>T, NG_007045.2:g.26503C>T, NM_000016.6:c.654C>T, NM_000016.5:c.654C>T, NM_000016.4:c.654C>T, NM_001127328.3:c.666C>T, NM_001127328.2:c.666C>T, NM_001127328.1:c.666C>T, NM_001286043.2:c.753C>T, NM_001286043.1:c.753C>T, NM_001286042.2:c.546C>T, NM_001286042.1:c.546C>T, NM_001286044.2:c.87C>T, NM_001286044.1:c.87C>T, NR_022013.1:n.983C>T

Select item 14899928424.

rs1489992842 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:75746110 (GRCh38)
1:76211795 (GRCh37)
Canonical SPDI:: NC_000001.11:75746109:A:G
Gene:: ACADM (Varview), DLSTP1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.75746110A>G, NC_000001.10:g.76211795A>G, NG_007045.2:g.26753A>G

Select item 14881128325.

rs1488112832 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:75745712 (GRCh38)
1:76211397 (GRCh37)
Canonical SPDI:: NC_000001.11:75745711:A:C,NC_000001.11:75745711:A:G
Gene:: ACADM (Varview), DLSTP1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.75745712A>C, NC_000001.11:g.75745712A>G, NC_000001.10:g.76211397A>C, NC_000001.10:g.76211397A>G, NG_007045.2:g.26355A>C, NG_007045.2:g.26355A>G

Select item 14880822056.

rs1488082205 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:75741753 (GRCh38)
1:76207438 (GRCh37)
Canonical SPDI:: NC_000001.11:75741752:C:G
Gene:: ACADM (Varview), DLSTP1 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
HGVS:: NC_000001.11:g.75741753C>G, NC_000001.10:g.76207438C>G, NG_007045.2:g.22396C>G

Select item 14879032707.

rs1487903270 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:75743666 (GRCh38)
1:76209351 (GRCh37)
Canonical SPDI:: NC_000001.11:75743665:T:C
Gene:: ACADM (Varview), DLSTP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.75743666T>C, NC_000001.10:g.76209351T>C, NG_007045.2:g.24309T>C, NR_130749.1:n.1348A>G

Select item 14865572448.

rs1486557244 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:75743786 (GRCh38)
1:76209471 (GRCh37)
Canonical SPDI:: NC_000001.11:75743785:C:T
Gene:: ACADM (Varview), DLSTP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.75743786C>T, NC_000001.10:g.76209471C>T, NG_007045.2:g.24429C>T, NR_130749.1:n.1228G>A

Select item 14864109689.

rs1486410968 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:75742944 (GRCh38)
1:76208629 (GRCh37)
Canonical SPDI:: NC_000001.11:75742943:C:T
Gene:: ACADM (Varview), DLSTP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000026/7 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000001.11:g.75742944C>T, NC_000001.10:g.76208629C>T, NG_007045.2:g.23587C>T, NR_130749.1:n.2070G>A

Select item 148636039310.

rs1486360393 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:75747009 (GRCh38)
1:76212694 (GRCh37)
Canonical SPDI:: NC_000001.11:75747008:G:A
Gene:: ACADM (Varview), DLSTP1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.75747009G>A, NC_000001.10:g.76212694G>A, NG_007045.2:g.27652G>A

Select item 148635052311.

rs1486350523 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 1:75745814 (GRCh38)
1:76211499 (GRCh37)
Canonical SPDI:: NC_000001.11:75745813:T:A,NC_000001.11:75745813:T:G
Gene:: ACADM (Varview), DLSTP1 (Varview)
Functional Consequence:: stop_gained,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.75745814T>A, NC_000001.11:g.75745814T>G, NC_000001.10:g.76211499T>A, NC_000001.10:g.76211499T>G, NG_007045.2:g.26457T>A, NG_007045.2:g.26457T>G, NM_000016.6:c.608T>A, NM_000016.6:c.608T>G, NM_000016.5:c.608T>A, NM_000016.5:c.608T>G, NM_000016.4:c.608T>A, NM_000016.4:c.608T>G, NM_001127328.3:c.620T>A, NM_001127328.3:c.620T>G, NM_001127328.2:c.620T>A, NM_001127328.2:c.620T>G, NM_001127328.1:c.620T>A, NM_001127328.1:c.620T>G, NM_001286043.2:c.707T>A, NM_001286043.2:c.707T>G, NM_001286043.1:c.707T>A, NM_001286043.1:c.707T>G, NM_001286042.2:c.500T>A, NM_001286042.2:c.500T>G, NM_001286042.1:c.500T>A, NM_001286042.1:c.500T>G, NM_001286044.2:c.41T>A, NM_001286044.2:c.41T>G, NM_001286044.1:c.41T>A, NM_001286044.1:c.41T>G, NR_022013.1:n.937T>A, NR_022013.1:n.937T>G, NP_000007.1:p.Leu203Ter, NP_000007.1:p.Leu203Ter, NP_001120800.1:p.Leu207Ter, NP_001120800.1:p.Leu207Ter, NP_001272972.1:p.Leu236Ter, NP_001272972.1:p.Leu236Ter, NP_001272971.1:p.Leu167Ter, NP_001272971.1:p.Leu167Ter, NP_001272973.1:p.Leu14Ter, NP_001272973.1:p.Leu14Ter

Select item 148594426512.

rs1485944265 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:75742149 (GRCh38)
1:76207834 (GRCh37)
Canonical SPDI:: NC_000001.11:75742148:C:T
Gene:: ACADM (Varview), DLSTP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.0009/4 (ALFA)
HGVS:: NC_000001.11:g.75742149C>T, NC_000001.10:g.76207834C>T, NG_007045.2:g.22792C>T, NR_130749.1:n.2865G>A

Select item 148580351713.

rs1485803517 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:75744150 (GRCh38)
1:76209835 (GRCh37)
Canonical SPDI:: NC_000001.11:75744149:G:A
Gene:: ACADM (Varview), DLSTP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000038/10 (TOPMED)
A=0.000071/10 (GnomAD)
HGVS:: NC_000001.11:g.75744150G>A, NC_000001.10:g.76209835G>A, NG_007045.2:g.24793G>A, NR_130749.1:n.864C>T

Select item 148552436814.

rs1485524368 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:75742799 (GRCh38)
1:76208484 (GRCh37)
Canonical SPDI:: NC_000001.11:75742798:C:T
Gene:: ACADM (Varview), DLSTP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000049/13 (TOPMED)
HGVS:: NC_000001.11:g.75742799C>T, NC_000001.10:g.76208484C>T, NG_007045.2:g.23442C>T, NR_130749.1:n.2215G>A

Select item 148508113715.

rs1485081137 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:75741739 (GRCh38)
1:76207424 (GRCh37)
Canonical SPDI:: NC_000001.11:75741738:T:G
Gene:: ACADM (Varview), DLSTP1 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.75741739T>G, NC_000001.10:g.76207424T>G, NG_007045.2:g.22382T>G

Select item 148502614016.

rs1485026140 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:75743129 (GRCh38)
1:76208814 (GRCh37)
Canonical SPDI:: NC_000001.11:75743128:G:A,NC_000001.11:75743128:G:C
Gene:: ACADM (Varview), DLSTP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.75743129G>A, NC_000001.11:g.75743129G>C, NC_000001.10:g.76208814G>A, NC_000001.10:g.76208814G>C, NG_007045.2:g.23772G>A, NG_007045.2:g.23772G>C, NR_130749.1:n.1885C>T, NR_130749.1:n.1885C>G

Select item 148388840017.

rs1483888400 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 1:75743980 (GRCh38)
1:76209665 (GRCh37)
Canonical SPDI:: NC_000001.11:75743977:TGTG:TG
Gene:: ACADM (Varview), DLSTP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.75743978TG[1], NC_000001.10:g.76209663TG[1], NG_007045.2:g.24621TG[1], NR_130749.1:n.1033CA[1]

Select item 148323290318.

rs1483232903 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:75744586 (GRCh38)
1:76210271 (GRCh37)
Canonical SPDI:: NC_000001.11:75744585:G:A
Gene:: ACADM (Varview), DLSTP1 (Varview)
Functional Consequence:: non_coding_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:: NC_000001.11:g.75744586G>A, NC_000001.10:g.76210271G>A, NG_007045.2:g.25229G>A, NR_130749.1:n.428C>T

Select item 148308012219.

rs1483080122 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:75746876 (GRCh38)
1:76212561 (GRCh37)
Canonical SPDI:: NC_000001.11:75746875:G:A
Gene:: ACADM (Varview), DLSTP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.75746876G>A, NC_000001.10:g.76212561G>A, NG_007045.2:g.27519G>A

Select item 148197304920.

rs1481973049 has merged into rs1021172541 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 1:75745485 (GRCh38)
1:76211170 (GRCh37)
Canonical SPDI:: NC_000001.11:75745484:AAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:75745484:AAAAAAAAAAA:AAAAAAAAAAAA
Gene:: ACADM (Varview), DLSTP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0.00016/3 (ALFA)
-=0.00028/5 (TOMMO)
HGVS:: NC_000001.11:g.75745495del, NC_000001.11:g.75745495dup, NC_000001.10:g.76211180del, NC_000001.10:g.76211180dup, NG_007045.2:g.26138del, NG_007045.2:g.26138dup

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