SNP Links for Gene (Select 95) - SNP

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Items: 1 to 20 of 2186

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Select item 14896111081.

rs1489611108 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:51988483 (GRCh38)
3:52022499 (GRCh37)
Canonical SPDI:: NC_000003.12:51988482:C:A
Gene:: ACY1 (Varview), ABHD14A-ACY1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000169/2 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000003.12:g.51988483C>A, NC_000003.11:g.52022499C>A, NG_012036.1:g.9937C>A

Select item 14894552132.

rs1489455213 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:51982193 (GRCh38)
3:52016209 (GRCh37)
Canonical SPDI:: NC_000003.12:51982192:C:G,NC_000003.12:51982192:C:T
Gene:: ACY1 (Varview), ABHD14A-ACY1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.51982193C>G, NC_000003.12:g.51982193C>T, NC_000003.11:g.52016209C>G, NC_000003.11:g.52016209C>T, NG_012036.1:g.3647C>G, NG_012036.1:g.3647C>T

Select item 14892165853.

rs1489216585 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:51987622 (GRCh38)
3:52021638 (GRCh37)
Canonical SPDI:: NC_000003.12:51987621:C:T
Gene:: ACY1 (Varview), ABHD14A-ACY1 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.51987622C>T, NC_000003.11:g.52021638C>T, NG_012036.1:g.9076C>T, NM_000666.3:c.919C>T, NM_000666.2:c.919C>T, NM_001198895.2:c.919C>T, NM_001198895.1:c.919C>T, NM_001198898.2:c.814C>T, NM_001198898.1:c.814C>T, NM_001198897.2:c.724C>T, NM_001198897.1:c.724C>T, NM_001198896.2:c.703C>T, NM_001198896.1:c.703C>T, NM_001316331.2:c.1189C>T, NM_001316331.1:c.1189C>T, NR_037192.1:n.1444C>T, NP_000657.1:p.Gln307Ter, NP_001185824.1:p.Gln307Ter, NP_001185827.1:p.Gln272Ter, NP_001185826.1:p.Gln242Ter, NP_001185825.1:p.Gln235Ter, NP_001303260.1:p.Gln397Ter

Select item 14883032234.

rs1488303223 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:51983179 (GRCh38)
3:52017195 (GRCh37)
Canonical SPDI:: NC_000003.12:51983178:G:A,NC_000003.12:51983178:G:T
Gene:: ACY1 (Varview), ABHD14A-ACY1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000343/1 (KOREAN)
HGVS:: NC_000003.12:g.51983179G>A, NC_000003.12:g.51983179G>T, NC_000003.11:g.52017195G>A, NC_000003.11:g.52017195G>T, NG_012036.1:g.4633G>A, NG_012036.1:g.4633G>T

Select item 14876135085.

rs1487613508 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:51981764 (GRCh38)
3:52015780 (GRCh37)
Canonical SPDI:: NC_000003.12:51981763:A:G
Gene:: ACY1 (Varview), ABHD14A-ACY1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.51981764A>G, NC_000003.11:g.52015780A>G, NG_012036.1:g.3218A>G

Select item 14875408916.

rs1487540891 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:51988963 (GRCh38)
3:52022979 (GRCh37)
Canonical SPDI:: NC_000003.12:51988962:T:C
Gene:: ACY1 (Varview), ABHD14A-ACY1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000043/6 (GnomAD)
HGVS:: NC_000003.12:g.51988963T>C, NC_000003.11:g.52022979T>C, NG_012036.1:g.10417T>C, NM_000666.3:c.1115T>C, NM_000666.2:c.1115T>C, NM_001198895.2:c.1115T>C, NM_001198895.1:c.1115T>C, NM_001198898.2:c.1010T>C, NM_001198898.1:c.1010T>C, NM_001198897.2:c.920T>C, NM_001198897.1:c.920T>C, NM_001198896.2:c.899T>C, NM_001198896.1:c.899T>C, NM_001316331.2:c.1385T>C, NM_001316331.1:c.1385T>C, NR_037192.1:n.1640T>C, NP_000657.1:p.Leu372Pro, NP_001185824.1:p.Leu372Pro, NP_001185827.1:p.Leu337Pro, NP_001185826.1:p.Leu307Pro, NP_001185825.1:p.Leu300Pro, NP_001303260.1:p.Leu462Pro

Select item 14871867407.

rs1487186740 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:51982899 (GRCh38)
3:52016915 (GRCh37)
Canonical SPDI:: NC_000003.12:51982898:G:A
Gene:: ACY1 (Varview), ABHD14A-ACY1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.51982899G>A, NC_000003.11:g.52016915G>A, NG_012036.1:g.4353G>A

Select item 14861186598.

rs1486118659 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:51982920 (GRCh38)
3:52016936 (GRCh37)
Canonical SPDI:: NC_000003.12:51982919:G:C
Gene:: ACY1 (Varview), ABHD14A-ACY1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.51982920G>C, NC_000003.11:g.52016936G>C, NG_012036.1:g.4374G>C

Select item 14859469419.

rs1485946941 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:51989116 (GRCh38)
3:52023132 (GRCh37)
Canonical SPDI:: NC_000003.12:51989115:C:T
Gene:: ACY1 (Varview), ABHD14A-ACY1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.51989116C>T, NC_000003.11:g.52023132C>T, NG_012036.1:g.10570C>T, NM_000666.3:c.*41C>T, NM_000666.2:c.*41C>T, NM_001198895.2:c.*41C>T, NM_001198895.1:c.*41C>T, NM_001198898.2:c.*41C>T, NM_001198898.1:c.*41C>T, NM_001198897.2:c.*41C>T, NM_001198897.1:c.*41C>T, NM_001198896.2:c.*41C>T, NM_001198896.1:c.*41C>T, NM_001316331.2:c.*41C>T, NM_001316331.1:c.*41C>T, NR_037192.1:n.1793C>T

Select item 148522951710.

rs1485229517 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:51982001 (GRCh38)
3:52016017 (GRCh37)
Canonical SPDI:: NC_000003.12:51982000:G:A
Gene:: ACY1 (Varview), ABHD14A-ACY1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000003.12:g.51982001G>A, NC_000003.11:g.52016017G>A, NG_012036.1:g.3455G>A

Select item 148490166011.

rs1484901660 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:51981884 (GRCh38)
3:52015900 (GRCh37)
Canonical SPDI:: NC_000003.12:51981883:G:C
Gene:: ACY1 (Varview), ABHD14A-ACY1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
HGVS:: NC_000003.12:g.51981884G>C, NC_000003.11:g.52015900G>C, NG_012036.1:g.3338G>C

Select item 148488303312.

rs1484883033 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:51984834 (GRCh38)
3:52018850 (GRCh37)
Canonical SPDI:: NC_000003.12:51984833:G:A
Gene:: ACY1 (Varview), ABHD14A-ACY1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
A=0.00003/4 (GnomAD)
A=0.005133/15 (KOREAN)
HGVS:: NC_000003.12:g.51984834G>A, NC_000003.11:g.52018850G>A, NG_012036.1:g.6288G>A

Select item 148463739713.

rs1484637397 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:51988892 (GRCh38)
3:52022908 (GRCh37)
Canonical SPDI:: NC_000003.12:51988891:C:T
Gene:: ACY1 (Varview), ABHD14A-ACY1 (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_000003.12:g.51988892C>T, NC_000003.11:g.52022908C>T, NG_012036.1:g.10346C>T

Select item 148461435314.

rs1484614353 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:51987770 (GRCh38)
3:52021786 (GRCh37)
Canonical SPDI:: NC_000003.12:51987769:T:C
Gene:: ACY1 (Varview), ABHD14A-ACY1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.51987770T>C, NC_000003.11:g.52021786T>C, NG_012036.1:g.9224T>C

Select item 148410319015.

rs1484103190 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:51988081 (GRCh38)
3:52022097 (GRCh37)
Canonical SPDI:: NC_000003.12:51988080:G:T
Gene:: ACY1 (Varview), ABHD14A-ACY1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000036/5 (GnomAD)
T=0.000042/11 (TOPMED)
HGVS:: NC_000003.12:g.51988081G>T, NC_000003.11:g.52022097G>T, NG_012036.1:g.9535G>T

Select item 148263204816.

rs1482632048 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:51981420 (GRCh38)
3:52015436 (GRCh37)
Canonical SPDI:: NC_000003.12:51981419:A:G
Gene:: ABHD14A (Varview), ABHD14A-ACY1 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000026/7 (TOPMED)
HGVS:: NC_000003.12:g.51981420A>G, NC_000003.11:g.52015436A>G, NG_012036.1:g.2874A>G

Select item 148241792517.

rs1482417925 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:51987015 (GRCh38)
3:52021031 (GRCh37)
Canonical SPDI:: NC_000003.12:51987014:C:T
Gene:: ACY1 (Varview), ABHD14A-ACY1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.51987015C>T, NC_000003.11:g.52021031C>T, NG_012036.1:g.8469C>T, NM_000666.3:c.611C>T, NM_000666.2:c.611C>T, NM_001198895.2:c.611C>T, NM_001198895.1:c.611C>T, NM_001198898.2:c.506C>T, NM_001198898.1:c.506C>T, NM_001198897.2:c.611C>T, NM_001198897.1:c.611C>T, NM_001198896.2:c.395C>T, NM_001198896.1:c.395C>T, NM_001316331.2:c.881C>T, NM_001316331.1:c.881C>T, NR_037192.1:n.1136C>T, NP_000657.1:p.Pro204Leu, NP_001185824.1:p.Pro204Leu, NP_001185827.1:p.Pro169Leu, NP_001185826.1:p.Pro204Leu, NP_001185825.1:p.Pro132Leu, NP_001303260.1:p.Pro294Leu

Select item 148225459318.

rs1482254593 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:51987823 (GRCh38)
3:52021839 (GRCh37)
Canonical SPDI:: NC_000003.12:51987822:C:T
Gene:: ACY1 (Varview), ABHD14A-ACY1 (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.51987823C>T, NC_000003.11:g.52021839C>T, NG_012036.1:g.9277C>T

Select item 148208511919.

rs1482085119 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:51987187 (GRCh38)
3:52021203 (GRCh37)
Canonical SPDI:: NC_000003.12:51987186:A:C
Gene:: ACY1 (Varview), ABHD14A-ACY1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.51987187A>C, NC_000003.11:g.52021203A>C, NG_012036.1:g.8641A>C, NM_000666.3:c.698A>C, NM_000666.2:c.698A>C, NM_001198895.2:c.698A>C, NM_001198895.1:c.698A>C, NM_001198898.2:c.593A>C, NM_001198898.1:c.593A>C, NM_001198896.2:c.482A>C, NM_001198896.1:c.482A>C, NM_001316331.2:c.968A>C, NM_001316331.1:c.968A>C, NR_037192.1:n.1223A>C, NP_000657.1:p.Glu233Ala, NP_001185824.1:p.Glu233Ala, NP_001185827.1:p.Glu198Ala, NP_001185825.1:p.Glu161Ala, NP_001303260.1:p.Glu323Ala

Select item 148072561820.

rs1480725618 [Homo sapiens]

Variant type:: DELINS
Alleles:: GACAACCGCTATATCCGCGCGGTGAGCCACT>- [Show Flanks]
Chromosome:: 3:51988806 (GRCh38)
3:52022822 (GRCh37)
Canonical SPDI:: NC_000003.12:51988799:GCCACTGACAACCGCTATATCCGCGCGGTGAGCCACT:GCCACT
Gene:: ACY1 (Varview), ABHD14A-ACY1 (Varview)
Functional Consequence:: coding_sequence_variant,splice_donor_variant,intron_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.51988806_51988836del, NC_000003.11:g.52022822_52022852del, NG_012036.1:g.10260_10290del

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