SNP Links for Protein (Select 767915326) - SNP

Select item 14867530311.

rs1486753031 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:27129045 (GRCh38)
2:27351913 (GRCh37)
Canonical SPDI:: NC_000002.12:27129044:C:T
Gene:: ABHD1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27129045C>T, NC_000002.11:g.27351913C>T, NM_032604.4:c.376C>T, NM_032604.3:c.376C>T, XM_011533135.4:c.376C>T, XM_011533135.3:c.376C>T, XM_011533135.2:c.376C>T, XM_011533135.1:c.376C>T, XM_011533136.4:c.376C>T, XM_011533136.3:c.376C>T, XM_011533136.2:c.376C>T, XM_011533136.1:c.376C>T, XM_011533137.4:c.376C>T, XM_011533137.3:c.376C>T, XM_011533137.2:c.376C>T, XM_011533137.1:c.376C>T, XM_011533138.4:c.187C>T, XM_011533138.3:c.187C>T, XM_011533138.2:c.187C>T, XM_011533138.1:c.187C>T, NM_152870.1:c.376C>T

Select item 14834303772.

rs1483430377 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:27128976 (GRCh38)
2:27351844 (GRCh37)
Canonical SPDI:: NC_000002.12:27128975:C:A
Gene:: ABHD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27128976C>A, NC_000002.11:g.27351844C>A, NM_032604.4:c.307C>A, NM_032604.3:c.307C>A, XM_011533135.4:c.307C>A, XM_011533135.3:c.307C>A, XM_011533135.2:c.307C>A, XM_011533135.1:c.307C>A, XM_011533136.4:c.307C>A, XM_011533136.3:c.307C>A, XM_011533136.2:c.307C>A, XM_011533136.1:c.307C>A, XM_011533137.4:c.307C>A, XM_011533137.3:c.307C>A, XM_011533137.2:c.307C>A, XM_011533137.1:c.307C>A, XM_011533138.4:c.118C>A, XM_011533138.3:c.118C>A, XM_011533138.2:c.118C>A, XM_011533138.1:c.118C>A, NM_152870.1:c.307C>A, NP_115993.3:p.Leu103Ile, XP_011531437.1:p.Leu103Ile, XP_011531438.1:p.Leu103Ile, XP_011531439.1:p.Leu103Ile, XP_011531440.1:p.Leu40Ile

Select item 14774502513.

rs1477450251 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:27129031 (GRCh38)
2:27351899 (GRCh37)
Canonical SPDI:: NC_000002.12:27129030:C:T
Gene:: ABHD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.27129031C>T, NC_000002.11:g.27351899C>T, NM_032604.4:c.362C>T, NM_032604.3:c.362C>T, XM_011533135.4:c.362C>T, XM_011533135.3:c.362C>T, XM_011533135.2:c.362C>T, XM_011533135.1:c.362C>T, XM_011533136.4:c.362C>T, XM_011533136.3:c.362C>T, XM_011533136.2:c.362C>T, XM_011533136.1:c.362C>T, XM_011533137.4:c.362C>T, XM_011533137.3:c.362C>T, XM_011533137.2:c.362C>T, XM_011533137.1:c.362C>T, XM_011533138.4:c.173C>T, XM_011533138.3:c.173C>T, XM_011533138.2:c.173C>T, XM_011533138.1:c.173C>T, NM_152870.1:c.362C>T, NP_115993.3:p.Thr121Ile, XP_011531437.1:p.Thr121Ile, XP_011531438.1:p.Thr121Ile, XP_011531439.1:p.Thr121Ile, XP_011531440.1:p.Thr58Ile

Select item 14766012414.

rs1476601241 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:27128518 (GRCh38)
2:27351386 (GRCh37)
Canonical SPDI:: NC_000002.12:27128517:C:G,NC_000002.12:27128517:C:T
Gene:: ABHD1 (Varview)
Functional Consequence:: stop_gained,intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27128518C>G, NC_000002.12:g.27128518C>T, NC_000002.11:g.27351386C>G, NC_000002.11:g.27351386C>T, NM_032604.4:c.192C>G, NM_032604.4:c.192C>T, NM_032604.3:c.192C>G, NM_032604.3:c.192C>T, XM_011533135.4:c.192C>G, XM_011533135.4:c.192C>T, XM_011533135.3:c.192C>G, XM_011533135.3:c.192C>T, XM_011533135.2:c.192C>G, XM_011533135.2:c.192C>T, XM_011533135.1:c.192C>G, XM_011533135.1:c.192C>T, XM_011533136.4:c.192C>G, XM_011533136.4:c.192C>T, XM_011533136.3:c.192C>G, XM_011533136.3:c.192C>T, XM_011533136.2:c.192C>G, XM_011533136.2:c.192C>T, XM_011533136.1:c.192C>G, XM_011533136.1:c.192C>T, XM_011533137.4:c.192C>G, XM_011533137.4:c.192C>T, XM_011533137.3:c.192C>G, XM_011533137.3:c.192C>T, XM_011533137.2:c.192C>G, XM_011533137.2:c.192C>T, XM_011533137.1:c.192C>G, XM_011533137.1:c.192C>T, NM_152870.1:c.192C>G, NM_152870.1:c.192C>T, NP_115993.3:p.Tyr64Ter, XP_011531437.1:p.Tyr64Ter, XP_011531438.1:p.Tyr64Ter, XP_011531439.1:p.Tyr64Ter

Select item 14763382055.

rs1476338205 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:27128981 (GRCh38)
2:27351849 (GRCh37)
Canonical SPDI:: NC_000002.12:27128980:G:C
Gene:: ABHD1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.27128981G>C, NC_000002.11:g.27351849G>C, NM_032604.4:c.312G>C, NM_032604.3:c.312G>C, XM_011533135.4:c.312G>C, XM_011533135.3:c.312G>C, XM_011533135.2:c.312G>C, XM_011533135.1:c.312G>C, XM_011533136.4:c.312G>C, XM_011533136.3:c.312G>C, XM_011533136.2:c.312G>C, XM_011533136.1:c.312G>C, XM_011533137.4:c.312G>C, XM_011533137.3:c.312G>C, XM_011533137.2:c.312G>C, XM_011533137.1:c.312G>C, XM_011533138.4:c.123G>C, XM_011533138.3:c.123G>C, XM_011533138.2:c.123G>C, XM_011533138.1:c.123G>C, NM_152870.1:c.312G>C

Select item 14759082096.

rs1475908209 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:27129586 (GRCh38)
2:27352454 (GRCh37)
Canonical SPDI:: NC_000002.12:27129585:C:T
Gene:: ABHD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.27129586C>T, NC_000002.11:g.27352454C>T, NM_032604.4:c.577C>T, NM_032604.3:c.577C>T, XM_011533135.4:c.577C>T, XM_011533135.3:c.577C>T, XM_011533135.2:c.577C>T, XM_011533135.1:c.577C>T, XM_011533136.4:c.577C>T, XM_011533136.3:c.577C>T, XM_011533136.2:c.577C>T, XM_011533136.1:c.577C>T, XM_011533137.4:c.577C>T, XM_011533137.3:c.577C>T, XM_011533137.2:c.577C>T, XM_011533137.1:c.577C>T, XM_011533138.4:c.388C>T, XM_011533138.3:c.388C>T, XM_011533138.2:c.388C>T, XM_011533138.1:c.388C>T, NM_152870.1:c.577C>T, NP_115993.3:p.Pro193Ser, XP_011531437.1:p.Pro193Ser, XP_011531438.1:p.Pro193Ser, XP_011531439.1:p.Pro193Ser, XP_011531440.1:p.Pro130Ser

Select item 14693156677.

rs1469315667 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:27124016 (GRCh38)
2:27346884 (GRCh37)
Canonical SPDI:: NC_000002.12:27124015:T:C
Gene:: ABHD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_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_000002.12:g.27124016T>C, NC_000002.11:g.27346884T>C, NM_032604.4:c.68T>C, NM_032604.3:c.68T>C, XM_011533135.4:c.68T>C, XM_011533135.3:c.68T>C, XM_011533135.2:c.68T>C, XM_011533135.1:c.68T>C, XM_011533136.4:c.68T>C, XM_011533136.3:c.68T>C, XM_011533136.2:c.68T>C, XM_011533136.1:c.68T>C, XM_011533137.4:c.68T>C, XM_011533137.3:c.68T>C, XM_011533137.2:c.68T>C, XM_011533137.1:c.68T>C, XM_011533138.4:c.40T>C, XM_011533138.3:c.40T>C, XM_011533138.2:c.40T>C, XM_011533138.1:c.40T>C, NM_152870.1:c.68T>C, NP_115993.3:p.Leu23Pro, XP_011531437.1:p.Leu23Pro, XP_011531438.1:p.Leu23Pro, XP_011531439.1:p.Leu23Pro

Select item 14666785078.

rs1466678507 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:27130288 (GRCh38)
2:27353156 (GRCh37)
Canonical SPDI:: NC_000002.12:27130287:C:G,NC_000002.12:27130287:C:T
Gene:: PREB (Varview), ABHD1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,500B_downstream_variant,missense_variant,coding_sequence_variant,downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00006/2 (ALFA)
HGVS:: NC_000002.12:g.27130288C>G, NC_000002.12:g.27130288C>T, NC_000002.11:g.27353156C>G, NC_000002.11:g.27353156C>T, NM_032604.4:c.878C>G, NM_032604.4:c.878C>T, NM_032604.3:c.878C>G, NM_032604.3:c.878C>T, XM_011533135.4:c.886C>G, XM_011533135.4:c.886C>T, XM_011533135.3:c.886C>G, XM_011533135.3:c.886C>T, XM_011533135.2:c.886C>G, XM_011533135.2:c.886C>T, XM_011533135.1:c.886C>G, XM_011533135.1:c.886C>T, XM_011533136.4:c.853C>G, XM_011533136.4:c.853C>T, XM_011533136.3:c.853C>G, XM_011533136.3:c.853C>T, XM_011533136.2:c.853C>G, XM_011533136.2:c.853C>T, XM_011533136.1:c.853C>G, XM_011533136.1:c.853C>T, XM_011533137.4:c.*47C>G, XM_011533137.4:c.*47C>T, XM_011533137.3:c.*47C>G, XM_011533137.3:c.*47C>T, XM_011533137.2:c.*47C>G, XM_011533137.2:c.*47C>T, XM_011533137.1:c.*47C>G, XM_011533137.1:c.*47C>T, XM_011533138.4:c.697C>G, XM_011533138.4:c.697C>T, XM_011533138.3:c.697C>G, XM_011533138.3:c.697C>T, XM_011533138.2:c.697C>G, XM_011533138.2:c.697C>T, XM_011533138.1:c.697C>G, XM_011533138.1:c.697C>T, NM_152870.1:c.853C>G, NM_152870.1:c.853C>T, NP_115993.3:p.Ser293Cys, NP_115993.3:p.Ser293Phe, XP_011531437.1:p.Leu296Val, XP_011531438.1:p.Leu285Val, XP_011531440.1:p.Leu233Val

Select item 14660284639.

rs1466028463 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:27130244 (GRCh38)
2:27353112 (GRCh37)
Canonical SPDI:: NC_000002.12:27130243:C:G
Gene:: ABHD1 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,missense_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.27130244C>G, NC_000002.11:g.27353112C>G, XM_011533135.4:c.842C>G, XM_011533135.3:c.842C>G, XM_011533135.2:c.842C>G, XM_011533135.1:c.842C>G, XM_011533136.4:c.809C>G, XM_011533136.3:c.809C>G, XM_011533136.2:c.809C>G, XM_011533136.1:c.809C>G, XM_011533137.4:c.*3C>G, XM_011533137.3:c.*3C>G, XM_011533137.2:c.*3C>G, XM_011533137.1:c.*3C>G, XM_011533138.4:c.653C>G, XM_011533138.3:c.653C>G, XM_011533138.2:c.653C>G, XM_011533138.1:c.653C>G, NM_152870.1:c.809C>G, XP_011531437.1:p.Thr281Ser, XP_011531438.1:p.Thr270Ser, XP_011531440.1:p.Thr218Ser

Select item 146460477910.

rs1464604779 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:27129569 (GRCh38)
2:27352437 (GRCh37)
Canonical SPDI:: NC_000002.12:27129568:A:G
Gene:: ABHD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27129569A>G, NC_000002.11:g.27352437A>G, NM_032604.4:c.560A>G, NM_032604.3:c.560A>G, XM_011533135.4:c.560A>G, XM_011533135.3:c.560A>G, XM_011533135.2:c.560A>G, XM_011533135.1:c.560A>G, XM_011533136.4:c.560A>G, XM_011533136.3:c.560A>G, XM_011533136.2:c.560A>G, XM_011533136.1:c.560A>G, XM_011533137.4:c.560A>G, XM_011533137.3:c.560A>G, XM_011533137.2:c.560A>G, XM_011533137.1:c.560A>G, XM_011533138.4:c.371A>G, XM_011533138.3:c.371A>G, XM_011533138.2:c.371A>G, XM_011533138.1:c.371A>G, NM_152870.1:c.560A>G, NP_115993.3:p.His187Arg, XP_011531437.1:p.His187Arg, XP_011531438.1:p.His187Arg, XP_011531439.1:p.His187Arg, XP_011531440.1:p.His124Arg

Select item 146317511611.

rs1463175116 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:27124023 (GRCh38)
2:27346891 (GRCh37)
Canonical SPDI:: NC_000002.12:27124022:T:C
Gene:: ABHD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27124023T>C, NC_000002.11:g.27346891T>C, NM_032604.4:c.75T>C, NM_032604.3:c.75T>C, XM_011533135.4:c.75T>C, XM_011533135.3:c.75T>C, XM_011533135.2:c.75T>C, XM_011533135.1:c.75T>C, XM_011533136.4:c.75T>C, XM_011533136.3:c.75T>C, XM_011533136.2:c.75T>C, XM_011533136.1:c.75T>C, XM_011533137.4:c.75T>C, XM_011533137.3:c.75T>C, XM_011533137.2:c.75T>C, XM_011533137.1:c.75T>C, XM_011533138.4:c.47T>C, XM_011533138.3:c.47T>C, XM_011533138.2:c.47T>C, XM_011533138.1:c.47T>C, NM_152870.1:c.75T>C, XP_011531440.1:p.Leu16Ser

Select item 146128637812.

rs1461286378 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:27124031 (GRCh38)
2:27346899 (GRCh37)
Canonical SPDI:: NC_000002.12:27124030:A:G
Gene:: ABHD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27124031A>G, NC_000002.11:g.27346899A>G, NM_032604.4:c.83A>G, NM_032604.3:c.83A>G, XM_011533135.4:c.83A>G, XM_011533135.3:c.83A>G, XM_011533135.2:c.83A>G, XM_011533135.1:c.83A>G, XM_011533136.4:c.83A>G, XM_011533136.3:c.83A>G, XM_011533136.2:c.83A>G, XM_011533136.1:c.83A>G, XM_011533137.4:c.83A>G, XM_011533137.3:c.83A>G, XM_011533137.2:c.83A>G, XM_011533137.1:c.83A>G, XM_011533138.4:c.55A>G, XM_011533138.3:c.55A>G, XM_011533138.2:c.55A>G, XM_011533138.1:c.55A>G, NM_152870.1:c.83A>G, NP_115993.3:p.Tyr28Cys, XP_011531437.1:p.Tyr28Cys, XP_011531438.1:p.Tyr28Cys, XP_011531439.1:p.Tyr28Cys, XP_011531440.1:p.Thr19Ala

Select item 145596069413.

rs1455960694 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:27128961 (GRCh38)
2:27351829 (GRCh37)
Canonical SPDI:: NC_000002.12:27128960:C:A
Gene:: ABHD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000002.12:g.27128961C>A, NC_000002.11:g.27351829C>A, NM_032604.4:c.292C>A, NM_032604.3:c.292C>A, XM_011533135.4:c.292C>A, XM_011533135.3:c.292C>A, XM_011533135.2:c.292C>A, XM_011533135.1:c.292C>A, XM_011533136.4:c.292C>A, XM_011533136.3:c.292C>A, XM_011533136.2:c.292C>A, XM_011533136.1:c.292C>A, XM_011533137.4:c.292C>A, XM_011533137.3:c.292C>A, XM_011533137.2:c.292C>A, XM_011533137.1:c.292C>A, XM_011533138.4:c.103C>A, XM_011533138.3:c.103C>A, XM_011533138.2:c.103C>A, XM_011533138.1:c.103C>A, NM_152870.1:c.292C>A, NP_115993.3:p.Pro98Thr, XP_011531437.1:p.Pro98Thr, XP_011531438.1:p.Pro98Thr, XP_011531439.1:p.Pro98Thr, XP_011531440.1:p.Pro35Thr

Select item 145445228014.

rs1454452280 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:27128964 (GRCh38)
2:27351832 (GRCh37)
Canonical SPDI:: NC_000002.12:27128963:G:A
Gene:: ABHD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000002.12:g.27128964G>A, NC_000002.11:g.27351832G>A, NM_032604.4:c.295G>A, NM_032604.3:c.295G>A, XM_011533135.4:c.295G>A, XM_011533135.3:c.295G>A, XM_011533135.2:c.295G>A, XM_011533135.1:c.295G>A, XM_011533136.4:c.295G>A, XM_011533136.3:c.295G>A, XM_011533136.2:c.295G>A, XM_011533136.1:c.295G>A, XM_011533137.4:c.295G>A, XM_011533137.3:c.295G>A, XM_011533137.2:c.295G>A, XM_011533137.1:c.295G>A, XM_011533138.4:c.106G>A, XM_011533138.3:c.106G>A, XM_011533138.2:c.106G>A, XM_011533138.1:c.106G>A, NM_152870.1:c.295G>A, NP_115993.3:p.Asp99Asn, XP_011531437.1:p.Asp99Asn, XP_011531438.1:p.Asp99Asn, XP_011531439.1:p.Asp99Asn, XP_011531440.1:p.Asp36Asn

Select item 145321476015.

rs1453214760 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:27129342 (GRCh38)
2:27352210 (GRCh37)
Canonical SPDI:: NC_000002.12:27129341:G:A
Gene:: ABHD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27129342G>A, NC_000002.11:g.27352210G>A, NM_032604.4:c.485G>A, NM_032604.3:c.485G>A, XM_011533135.4:c.485G>A, XM_011533135.3:c.485G>A, XM_011533135.2:c.485G>A, XM_011533135.1:c.485G>A, XM_011533136.4:c.485G>A, XM_011533136.3:c.485G>A, XM_011533136.2:c.485G>A, XM_011533136.1:c.485G>A, XM_011533137.4:c.485G>A, XM_011533137.3:c.485G>A, XM_011533137.2:c.485G>A, XM_011533137.1:c.485G>A, XM_011533138.4:c.296G>A, XM_011533138.3:c.296G>A, XM_011533138.2:c.296G>A, XM_011533138.1:c.296G>A, NM_152870.1:c.485G>A, NP_115993.3:p.Cys162Tyr, XP_011531437.1:p.Cys162Tyr, XP_011531438.1:p.Cys162Tyr, XP_011531439.1:p.Cys162Tyr, XP_011531440.1:p.Cys99Tyr

Select item 145183786216.

rs1451837862 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:27129560 (GRCh38)
2:27352428 (GRCh37)
Canonical SPDI:: NC_000002.12:27129559:T:C
Gene:: ABHD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27129560T>C, NC_000002.11:g.27352428T>C, NM_032604.4:c.551T>C, NM_032604.3:c.551T>C, XM_011533135.4:c.551T>C, XM_011533135.3:c.551T>C, XM_011533135.2:c.551T>C, XM_011533135.1:c.551T>C, XM_011533136.4:c.551T>C, XM_011533136.3:c.551T>C, XM_011533136.2:c.551T>C, XM_011533136.1:c.551T>C, XM_011533137.4:c.551T>C, XM_011533137.3:c.551T>C, XM_011533137.2:c.551T>C, XM_011533137.1:c.551T>C, XM_011533138.4:c.362T>C, XM_011533138.3:c.362T>C, XM_011533138.2:c.362T>C, XM_011533138.1:c.362T>C, NM_152870.1:c.551T>C, NP_115993.3:p.Val184Ala, XP_011531437.1:p.Val184Ala, XP_011531438.1:p.Val184Ala, XP_011531439.1:p.Val184Ala, XP_011531440.1:p.Val121Ala

Select item 144872058517.

rs1448720585 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:27129869 (GRCh38)
2:27352737 (GRCh37)
Canonical SPDI:: NC_000002.12:27129868:C:T
Gene:: ABHD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.27129869C>T, NC_000002.11:g.27352737C>T, NM_032604.4:c.733C>T, NM_032604.3:c.733C>T, XM_011533135.4:c.733C>T, XM_011533135.3:c.733C>T, XM_011533135.2:c.733C>T, XM_011533135.1:c.733C>T, XM_011533136.4:c.733C>T, XM_011533136.3:c.733C>T, XM_011533136.2:c.733C>T, XM_011533136.1:c.733C>T, XM_011533137.4:c.733C>T, XM_011533137.3:c.733C>T, XM_011533137.2:c.733C>T, XM_011533137.1:c.733C>T, XM_011533138.4:c.544C>T, XM_011533138.3:c.544C>T, XM_011533138.2:c.544C>T, XM_011533138.1:c.544C>T, NM_152870.1:c.733C>T, NP_115993.3:p.Leu245Phe, XP_011531437.1:p.Leu245Phe, XP_011531438.1:p.Leu245Phe, XP_011531439.1:p.Leu245Phe, XP_011531440.1:p.Leu182Phe

Select item 143712118018.

rs1437121180 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:27129598 (GRCh38)
2:27352466 (GRCh37)
Canonical SPDI:: NC_000002.12:27129597:C:T
Gene:: ABHD1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27129598C>T, NC_000002.11:g.27352466C>T, NM_032604.4:c.589C>T, NM_032604.3:c.589C>T, XM_011533135.4:c.589C>T, XM_011533135.3:c.589C>T, XM_011533135.2:c.589C>T, XM_011533135.1:c.589C>T, XM_011533136.4:c.589C>T, XM_011533136.3:c.589C>T, XM_011533136.2:c.589C>T, XM_011533136.1:c.589C>T, XM_011533137.4:c.589C>T, XM_011533137.3:c.589C>T, XM_011533137.2:c.589C>T, XM_011533137.1:c.589C>T, XM_011533138.4:c.400C>T, XM_011533138.3:c.400C>T, XM_011533138.2:c.400C>T, XM_011533138.1:c.400C>T, NM_152870.1:c.589C>T

Select item 143345787319.

rs1433457873 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:27129903 (GRCh38)
2:27352771 (GRCh37)
Canonical SPDI:: NC_000002.12:27129902:C:A
Gene:: ABHD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27129903C>A, NC_000002.11:g.27352771C>A, NM_032604.4:c.767C>A, NM_032604.3:c.767C>A, XM_011533135.4:c.767C>A, XM_011533135.3:c.767C>A, XM_011533135.2:c.767C>A, XM_011533135.1:c.767C>A, XM_011533136.4:c.767C>A, XM_011533136.3:c.767C>A, XM_011533136.2:c.767C>A, XM_011533136.1:c.767C>A, XM_011533137.4:c.767C>A, XM_011533137.3:c.767C>A, XM_011533137.2:c.767C>A, XM_011533137.1:c.767C>A, XM_011533138.4:c.578C>A, XM_011533138.3:c.578C>A, XM_011533138.2:c.578C>A, XM_011533138.1:c.578C>A, NM_152870.1:c.767C>A, NP_115993.3:p.Ala256Asp, XP_011531437.1:p.Ala256Asp, XP_011531438.1:p.Ala256Asp, XP_011531439.1:p.Ala256Asp, XP_011531440.1:p.Ala193Asp

Select item 143322865920.

rs1433228659 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:27129340 (GRCh38)
2:27352208 (GRCh37)
Canonical SPDI:: NC_000002.12:27129339:C:A,NC_000002.12:27129339:C:T
Gene:: ABHD1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.27129340C>A, NC_000002.12:g.27129340C>T, NC_000002.11:g.27352208C>A, NC_000002.11:g.27352208C>T, NM_032604.4:c.483C>A, NM_032604.4:c.483C>T, NM_032604.3:c.483C>A, NM_032604.3:c.483C>T, XM_011533135.4:c.483C>A, XM_011533135.4:c.483C>T, XM_011533135.3:c.483C>A, XM_011533135.3:c.483C>T, XM_011533135.2:c.483C>A, XM_011533135.2:c.483C>T, XM_011533135.1:c.483C>A, XM_011533135.1:c.483C>T, XM_011533136.4:c.483C>A, XM_011533136.4:c.483C>T, XM_011533136.3:c.483C>A, XM_011533136.3:c.483C>T, XM_011533136.2:c.483C>A, XM_011533136.2:c.483C>T, XM_011533136.1:c.483C>A, XM_011533136.1:c.483C>T, XM_011533137.4:c.483C>A, XM_011533137.4:c.483C>T, XM_011533137.3:c.483C>A, XM_011533137.3:c.483C>T, XM_011533137.2:c.483C>A, XM_011533137.2:c.483C>T, XM_011533137.1:c.483C>A, XM_011533137.1:c.483C>T, XM_011533138.4:c.294C>A, XM_011533138.4:c.294C>T, XM_011533138.3:c.294C>A, XM_011533138.3:c.294C>T, XM_011533138.2:c.294C>A, XM_011533138.2:c.294C>T, XM_011533138.1:c.294C>A, XM_011533138.1:c.294C>T, NM_152870.1:c.483C>A, NM_152870.1:c.483C>T

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Result Filters

Validation Status

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Global MAF

Custom range

Additional filters

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Items: 1 to 20 of 364

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