SNP Links for Gene (Select 142827) - SNP

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Items: 1 to 20 of 7693

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Select item 14912305191.

rs1491230519 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 10:95192812 (GRCh38)
10:96952569 (GRCh37)
Canonical SPDI:: NC_000010.11:95192811:CG:
Gene:: ACSM6 (Varview), LOC107984257 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000084/1 (ALFA)
-=0.000034/4 (GnomAD)
HGVS:: NC_000010.11:g.95192812_95192813del, NC_000010.10:g.96952569_96952570del

Select item 14912178542.

rs1491217854 has merged into rs11357937 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA [Show Flanks]
Chromosome:: 10:95198661 (GRCh38)
10:96958418 (GRCh37)
Canonical SPDI:: NC_000010.11:95198648:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:95198648:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:95198648:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:95198648:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:95198648:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
Gene:: ACSM6 (Varview), LOC107984257 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
A=0.006/23 (ALSPAC)
A=0.0086/32 (TWINSUK)
A=0.1068/535 (1000Genomes)
A=0.112/67 (NorthernSweden)
HGVS:: NC_000010.11:g.95198661_95198664del, NC_000010.11:g.95198662_95198664del, NC_000010.11:g.95198663_95198664del, NC_000010.11:g.95198664del, NC_000010.11:g.95198664dup, NC_000010.10:g.96958418_96958421del, NC_000010.10:g.96958419_96958421del, NC_000010.10:g.96958420_96958421del, NC_000010.10:g.96958421del, NC_000010.10:g.96958421dup

Select item 14911293893.

rs1491129389 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 10:95208933 (GRCh38)
10:96968690 (GRCh37)
Canonical SPDI:: NC_000010.11:95208932:TA:
Gene:: ACSM6 (Varview), LOC107984257 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000010.11:g.95208933_95208934del, NC_000010.10:g.96968690_96968691del

Select item 14910758994.

rs1491075899 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: 10:95223190 (GRCh38)
10:96982948 (GRCh37)
Canonical SPDI:: NC_000010.11:95223190:CT:CTCT
Gene:: ACSM6 (Varview), LOC107984257 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CTCT=0./0 (ALFA)
CT=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.95223191_95223192dup, NC_000010.10:g.96982948_96982949dup

Select item 14910651505.

rs1491065150 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 10:95204547 (GRCh38)
10:96964305 (GRCh37)
Canonical SPDI:: NC_000010.11:95204547:T:TT
Gene:: ACSM6 (Varview), LOC107984257 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.95204548dup, NC_000010.10:g.96964305dup

Select item 14909251486.

rs1490925148 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:95204403 (GRCh38)
10:96964160 (GRCh37)
Canonical SPDI:: NC_000010.11:95204402:A:C
Gene:: ACSM6 (Varview), LOC107984257 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000010.11:g.95204403A>C, NC_000010.10:g.96964160A>C

Select item 14909152057.

rs1490915205 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:95210393 (GRCh38)
10:96970150 (GRCh37)
Canonical SPDI:: NC_000010.11:95210392:G:C
Gene:: ACSM6 (Varview), LOC107984257 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000054/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000010.11:g.95210393G>C, NC_000010.10:g.96970150G>C

Select item 14908229958.

rs1490822995 has merged into rs375422959 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA [Show Flanks]
Chromosome:: 10:95208150 (GRCh38)
10:96967907 (GRCh37)
Canonical SPDI:: NC_000010.11:95208140:AAAAAAAAAAAA:AAAAAAAAA,NC_000010.11:95208140:AAAAAAAAAAAA:AAAAAAAAAA,NC_000010.11:95208140:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:95208140:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:95208140:AAAAAAAAAAAA:AAAAAAAAAAAAAA
Gene:: ACSM6 (Varview), LOC107984257 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000010.11:g.95208150_95208152del, NC_000010.11:g.95208151_95208152del, NC_000010.11:g.95208152del, NC_000010.11:g.95208152dup, NC_000010.11:g.95208151_95208152dup, NC_000010.10:g.96967907_96967909del, NC_000010.10:g.96967908_96967909del, NC_000010.10:g.96967909del, NC_000010.10:g.96967909dup, NC_000010.10:g.96967908_96967909dup

Select item 14904950649.

rs1490495064 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAATTTACTATTTTGTGTCTTTGTTGAAGCAGCCAAAC>- [Show Flanks]
Chromosome:: 10:95193202 (GRCh38)
10:96952959 (GRCh37)
Canonical SPDI:: NC_000010.11:95193197:AAACAAATTTACTATTTTGTGTCTTTGTTGAAGCAGCCAAAC:AAAC
Gene:: ACSM6 (Varview), LOC107984257 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAC=0.000367/6 (ALFA)
-=0.000114/16 (GnomAD)
-=0.00067/3 (Estonian)
HGVS:: NC_000010.11:g.95193202_95193239del, NC_000010.10:g.96952959_96952996del

Select item 149047236210.

rs1490472362 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:95221565 (GRCh38)
10:96981322 (GRCh37)
Canonical SPDI:: NC_000010.11:95221564:G:A
Gene:: ACSM6 (Varview), LOC107984257 (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_000010.11:g.95221565G>A, NC_000010.10:g.96981322G>A

Select item 149015486911.

rs1490154869 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:95227896 (GRCh38)
10:96987653 (GRCh37)
Canonical SPDI:: NC_000010.11:95227895:C:T
Gene:: ACSM6 (Varview), LOC107984257 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.95227896C>T, NC_000010.10:g.96987653C>T

Select item 148999044612.

rs1489990446 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:95229078 (GRCh38)
10:96988835 (GRCh37)
Canonical SPDI:: NC_000010.11:95229077:T:C
Gene:: ACSM6 (Varview), LOC107984257 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.95229078T>C, NC_000010.10:g.96988835T>C

Select item 148998092113.

rs1489980921 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:95220987 (GRCh38)
10:96980744 (GRCh37)
Canonical SPDI:: NC_000010.11:95220986:G:T
Gene:: ACSM6 (Varview), LOC107984257 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00008/1 (ALFA)
HGVS:: NC_000010.11:g.95220987G>T, NC_000010.10:g.96980744G>T

Select item 148994172414.

rs1489941724 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:95203634 (GRCh38)
10:96963391 (GRCh37)
Canonical SPDI:: NC_000010.11:95203633:T:C
Gene:: ACSM6 (Varview), LOC107984257 (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_000010.11:g.95203634T>C, NC_000010.10:g.96963391T>C

Select item 148964042315.

rs1489640423 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:95219974 (GRCh38)
10:96979731 (GRCh37)
Canonical SPDI:: NC_000010.11:95219973:A:G
Gene:: ACSM6 (Varview), LOC107984257 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000051/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.95219974A>G, NC_000010.10:g.96979731A>G

Select item 148954565316.

rs1489545653 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:95196503 (GRCh38)
10:96956260 (GRCh37)
Canonical SPDI:: NC_000010.11:95196502:T:G
Gene:: ACSM6 (Varview), LOC107984257 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.95196503T>G, NC_000010.10:g.96956260T>G

Select item 148920295317.

rs1489202953 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:95221701 (GRCh38)
10:96981458 (GRCh37)
Canonical SPDI:: NC_000010.11:95221700:T:C
Gene:: ACSM6 (Varview), LOC107984257 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.95221701T>C, NC_000010.10:g.96981458T>C

Select item 148915222518.

rs1489152225 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 10:95220417 (GRCh38)
10:96980174 (GRCh37)
Canonical SPDI:: NC_000010.11:95220416:T:A
Gene:: ACSM6 (Varview), LOC107984257 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000010.11:g.95220417T>A, NC_000010.10:g.96980174T>A

Select item 148912899719.

rs1489128997 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:95228216 (GRCh38)
10:96987973 (GRCh37)
Canonical SPDI:: NC_000010.11:95228215:G:C
Gene:: ACSM6 (Varview), LOC107984257 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.95228216G>C, NC_000010.10:g.96987973G>C

Select item 148911625020.

rs1489116250 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 10:95203053 (GRCh38)
10:96962810 (GRCh37)
Canonical SPDI:: NC_000010.11:95203052:G:A,NC_000010.11:95203052:G:C
Gene:: ACSM6 (Varview), LOC107984257 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000029/4 (GnomAD)
HGVS:: NC_000010.11:g.95203053G>A, NC_000010.11:g.95203053G>C, NC_000010.10:g.96962810G>A, NC_000010.10:g.96962810G>C

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