SNP Links for Gene (Select 84519) - SNP

Links from Gene

Items: 1 to 20 of 2927

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Select item 14908962971.

rs1490896297 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 12:6638947 (GRCh38)
12:6748113 (GRCh37)
Canonical SPDI:: NC_000012.12:6638946:T:C,NC_000012.12:6638946:T:G
Gene:: ACRBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
G=0.010371/19 (Korea1K)
HGVS:: NC_000012.12:g.6638947T>C, NC_000012.12:g.6638947T>G, NC_000012.11:g.6748113T>C, NC_000012.11:g.6748113T>G

Select item 14908107912.

rs1490810791 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:6643295 (GRCh38)
12:6752461 (GRCh37)
Canonical SPDI:: NC_000012.12:6643294:C:G
Gene:: ACRBP (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:: NC_000012.12:g.6643295C>G, NC_000012.11:g.6752461C>G

Select item 14907033633.

rs1490703363 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:6642042 (GRCh38)
12:6751208 (GRCh37)
Canonical SPDI:: NC_000012.12:6642041:C:T
Gene:: ACRBP (Varview)
Functional Consequence:: 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_000012.12:g.6642042C>T, NC_000012.11:g.6751208C>T

Select item 14902169024.

rs1490216902 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:6641355 (GRCh38)
12:6750521 (GRCh37)
Canonical SPDI:: NC_000012.12:6641354:A:G
Gene:: ACRBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.6641355A>G, NC_000012.11:g.6750521A>G

Select item 14902052175.

rs1490205217 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:6643944 (GRCh38)
12:6753110 (GRCh37)
Canonical SPDI:: NC_000012.12:6643943:C:T
Gene:: ACRBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.000142/2 (TOMMO)
T=0.000546/1 (Korea1K)
T=0.001027/3 (KOREAN)
HGVS:: NC_000012.12:g.6643944C>T, NC_000012.11:g.6753110C>T

Select item 14899787146.

rs1489978714 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:6648983 (GRCh38)
12:6758149 (GRCh37)
Canonical SPDI:: NC_000012.12:6648982:T:A
Gene:: ACRBP (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000012.12:g.6648983T>A, NC_000012.11:g.6758149T>A, NG_047151.1:g.19167A>T

Select item 14898323837.

rs1489832383 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:6642157 (GRCh38)
12:6751323 (GRCh37)
Canonical SPDI:: NC_000012.12:6642156:G:A
Gene:: ACRBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.6642157G>A, NC_000012.11:g.6751323G>A

Select item 14896579478.

rs1489657947 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:6640884 (GRCh38)
12:6750050 (GRCh37)
Canonical SPDI:: NC_000012.12:6640883:A:G
Gene:: ACRBP (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:: NC_000012.12:g.6640884A>G, NC_000012.11:g.6750050A>G

Select item 14892036329.

rs1489203632 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:6646964 (GRCh38)
12:6756130 (GRCh37)
Canonical SPDI:: NC_000012.12:6646963:G:A
Gene:: ACRBP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.6646964G>A, NC_000012.11:g.6756130G>A, NM_032489.3:c.92C>T, NM_032489.2:c.92C>T, NP_115878.2:p.Ala31Val

Select item 148905533010.

rs1489055330 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:6639608 (GRCh38)
12:6748774 (GRCh37)
Canonical SPDI:: NC_000012.12:6639607:A:G
Gene:: ACRBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000094/1 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.6639608A>G, NC_000012.11:g.6748774A>G

Select item 148878043511.

rs1488780435 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 12:6647680 (GRCh38)
12:6756846 (GRCh37)
Canonical SPDI:: NC_000012.12:6647679:A:C,NC_000012.12:6647679:A:G
Gene:: ACRBP (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000012.12:g.6647680A>C, NC_000012.12:g.6647680A>G, NC_000012.11:g.6756846A>C, NC_000012.11:g.6756846A>G

Select item 148873834112.

rs1488738341 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:6639349 (GRCh38)
12:6748515 (GRCh37)
Canonical SPDI:: NC_000012.12:6639348:A:G
Gene:: ACRBP (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:: NC_000012.12:g.6639349A>G, NC_000012.11:g.6748515A>G

Select item 148868117213.

rs1488681172 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 12:6640269 (GRCh38)
12:6749435 (GRCh37)
Canonical SPDI:: NC_000012.12:6640268:A:C,NC_000012.12:6640268:A:G,NC_000012.12:6640268:A:T
Gene:: ACRBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
C=0.002183/4 (Korea1K)
HGVS:: NC_000012.12:g.6640269A>C, NC_000012.12:g.6640269A>G, NC_000012.12:g.6640269A>T, NC_000012.11:g.6749435A>C, NC_000012.11:g.6749435A>G, NC_000012.11:g.6749435A>T

Select item 148769762414.

rs1487697624 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:6637593 (GRCh38)
12:6746759 (GRCh37)
Canonical SPDI:: NC_000012.12:6637592:A:T
Gene:: LPAR5 (Varview), ACRBP (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.6637593A>T, NC_000012.11:g.6746759A>T

Select item 148736849215.

rs1487368492 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:6647257 (GRCh38)
12:6756423 (GRCh37)
Canonical SPDI:: NC_000012.12:6647256:G:A
Gene:: ACRBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.6647257G>A, NC_000012.11:g.6756423G>A

Select item 148730074316.

rs1487300743 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:6639824 (GRCh38)
12:6748990 (GRCh37)
Canonical SPDI:: NC_000012.12:6639823:C:T
Gene:: ACRBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.6639824C>T, NC_000012.11:g.6748990C>T

Select item 148718517417.

rs1487185174 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:6647106 (GRCh38)
12:6756272 (GRCh37)
Canonical SPDI:: NC_000012.12:6647105:G:A
Gene:: ACRBP (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_000012.12:g.6647106G>A, NC_000012.11:g.6756272G>A

Select item 148588252418.

rs1485882524 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:6644595 (GRCh38)
12:6753761 (GRCh37)
Canonical SPDI:: NC_000012.12:6644594:G:A
Gene:: ACRBP (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.6644595G>A, NC_000012.11:g.6753761G>A, NM_032489.3:c.486C>T, NM_032489.2:c.486C>T

Select item 148586806019.

rs1485868060 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:6644804 (GRCh38)
12:6753970 (GRCh37)
Canonical SPDI:: NC_000012.12:6644803:T:C
Gene:: ACRBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.0005/1 (Korea1K)
HGVS:: NC_000012.12:g.6644804T>C, NC_000012.11:g.6753970T>C

Select item 148558709720.

rs1485587097 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:6645762 (GRCh38)
12:6754928 (GRCh37)
Canonical SPDI:: NC_000012.12:6645761:G:A,NC_000012.12:6645761:G:C
Gene:: ACRBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000093/13 (GnomAD)
HGVS:: NC_000012.12:g.6645762G>A, NC_000012.12:g.6645762G>C, NC_000012.11:g.6754928G>A, NC_000012.11:g.6754928G>C

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