SNP Links for Gene (Select 55347) - SNP

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Select item 14913696311.

rs1491369631 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 3:111977328 (GRCh38)
3:111696175 (GRCh37)
Canonical SPDI:: NC_000003.12:111977324:AAAAA:AAA
Gene:: ABHD10 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
-=0.000029/4 (GnomAD)
HGVS:: NC_000003.12:g.111977328_111977329del, NC_000003.11:g.111696175_111696176del

Select item 14904627552.

rs1490462755 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:111979137 (GRCh38)
3:111697984 (GRCh37)
Canonical SPDI:: NC_000003.12:111979136:G:A,NC_000003.12:111979136:G:T
Gene:: ABHD10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000003.12:g.111979137G>A, NC_000003.12:g.111979137G>T, NC_000003.11:g.111697984G>A, NC_000003.11:g.111697984G>T, NM_018394.4:c.76G>A, NM_018394.4:c.76G>T, NM_018394.3:c.76G>A, NM_018394.3:c.76G>T, NM_001272069.2:c.76G>A, NM_001272069.2:c.76G>T, NM_001272069.1:c.76G>A, NM_001272069.1:c.76G>T, NR_073570.2:n.112G>A, NR_073570.2:n.112G>T, NR_073570.1:n.262G>A, NR_073570.1:n.262G>T, NR_073571.2:n.112G>A, NR_073571.2:n.112G>T, NR_073571.1:n.262G>A, NR_073571.1:n.262G>T, NP_060864.1:p.Gly26Ser, NP_060864.1:p.Gly26Cys, NP_001258998.1:p.Gly26Ser, NP_001258998.1:p.Gly26Cys

Select item 14904300243.

rs1490430024 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:111981305 (GRCh38)
3:111700152 (GRCh37)
Canonical SPDI:: NC_000003.12:111981304:C:G
Gene:: ABHD10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000025/3 (GnomAD)
HGVS:: NC_000003.12:g.111981305C>G, NC_000003.11:g.111700152C>G

Select item 14903726484.

rs1490372648 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:111990021 (GRCh38)
3:111708868 (GRCh37)
Canonical SPDI:: NC_000003.12:111990020:T:A
Gene:: ABHD10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.111990021T>A, NC_000003.11:g.111708868T>A

Select item 14902092495.

rs1490209249 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:111990638 (GRCh38)
3:111709485 (GRCh37)
Canonical SPDI:: NC_000003.12:111990637:G:A
Gene:: ABHD10 (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_000003.12:g.111990638G>A, NC_000003.11:g.111709485G>A

Select item 14901225216.

rs1490122521 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:111979198 (GRCh38)
3:111698045 (GRCh37)
Canonical SPDI:: NC_000003.12:111979197:T:G
Gene:: ABHD10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.111979198T>G, NC_000003.11:g.111698045T>G, NM_018394.4:c.137T>G, NM_018394.3:c.137T>G, NM_001272069.2:c.137T>G, NM_001272069.1:c.137T>G, NR_073570.2:n.173T>G, NR_073570.1:n.323T>G, NR_073571.2:n.173T>G, NR_073571.1:n.323T>G, NP_060864.1:p.Leu46Arg, NP_001258998.1:p.Leu46Arg

Select item 14901175637.

rs1490117563 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:111981479 (GRCh38)
3:111700326 (GRCh37)
Canonical SPDI:: NC_000003.12:111981478:A:C
Gene:: ABHD10 (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_000003.12:g.111981479A>C, NC_000003.11:g.111700326A>C

Select item 14899787308.

rs1489978730 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:111983291 (GRCh38)
3:111702138 (GRCh37)
Canonical SPDI:: NC_000003.12:111983290:A:G
Gene:: ABHD10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.111983291A>G, NC_000003.11:g.111702138A>G

Select item 14899373039.

rs1489937303 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:111980254 (GRCh38)
3:111699101 (GRCh37)
Canonical SPDI:: NC_000003.12:111980253:A:G
Gene:: ABHD10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000021/3 (GnomAD)
G=0.00003/8 (TOPMED)
HGVS:: NC_000003.12:g.111980254A>G, NC_000003.11:g.111699101A>G

Select item 148990133610.

rs1489901336 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 3:111977880 (GRCh38)
3:111696728 (GRCh37)
Canonical SPDI:: NC_000003.12:111977880:TTTTTTT:TTTTTTTT
Gene:: ABHD10 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: TTTTTTTT=0./0 (ALFA)
HGVS:: NC_000003.12:g.111977887dup, NC_000003.11:g.111696734dup

Select item 148942598811.

rs1489425988 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 3:111979328 (GRCh38)
3:111698175 (GRCh37)
Canonical SPDI:: NC_000003.12:111979327:CCCC:CCC
Gene:: ABHD10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0./0 (ALFA)
-=0.000042/11 (TOPMED)
-=0.000057/8 (GnomAD)
-=0.001667/1 (NorthernSweden)
HGVS:: NC_000003.12:g.111979331del, NC_000003.11:g.111698178del

Select item 148940208812.

rs1489402088 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:111992856 (GRCh38)
3:111711703 (GRCh37)
Canonical SPDI:: NC_000003.12:111992855:G:A
Gene:: ABHD10 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000029/4 (GnomAD)
A=0.000034/9 (TOPMED)
HGVS:: NC_000003.12:g.111992856G>A, NC_000003.11:g.111711703G>A, NM_018394.4:c.*1135G>A, NM_018394.3:c.*1135G>A, NM_001272069.2:c.*1490G>A, NM_001272069.1:c.*1490G>A, NR_073570.2:n.1908G>A, NR_073570.1:n.2058G>A, NR_073571.2:n.1796G>A, NR_073571.1:n.1946G>A

Select item 148908862413.

rs1489088624 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:111992121 (GRCh38)
3:111710968 (GRCh37)
Canonical SPDI:: NC_000003.12:111992120:A:G
Gene:: ABHD10 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000003.12:g.111992121A>G, NC_000003.11:g.111710968A>G, NM_018394.4:c.*400A>G, NM_018394.3:c.*400A>G, NM_001272069.2:c.*755A>G, NM_001272069.1:c.*755A>G, NR_073570.2:n.1173A>G, NR_073570.1:n.1323A>G, NR_073571.2:n.1061A>G, NR_073571.1:n.1211A>G

Select item 148852535214.

rs1488525352 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 3:111983917 (GRCh38)
3:111702764 (GRCh37)
Canonical SPDI:: NC_000003.12:111983916:TTT:TT
Gene:: ABHD10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.111983919del, NC_000003.11:g.111702766del

Select item 148825477115.

rs1488254771 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:111985738 (GRCh38)
3:111704585 (GRCh37)
Canonical SPDI:: NC_000003.12:111985737:G:A
Gene:: ABHD10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000023/6 (TOPMED)
HGVS:: NC_000003.12:g.111985738G>A, NC_000003.11:g.111704585G>A

Select item 148780785016.

rs1487807850 [Homo sapiens]

Variant type:: DEL
Alleles:: ATC>- [Show Flanks]
Chromosome:: 3:111992695 (GRCh38)
3:111711542 (GRCh37)
Canonical SPDI:: NC_000003.12:111992694:ATC:
Gene:: ABHD10 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000003.12:g.111992695_111992697del, NC_000003.11:g.111711542_111711544del, NM_018394.4:c.*974_*976del, NM_018394.3:c.*974_*976del, NM_001272069.2:c.*1329_*1331del, NM_001272069.1:c.*1329_*1331del, NR_073570.2:n.1747_1749del, NR_073570.1:n.1897_1899del, NR_073571.2:n.1635_1637del, NR_073571.1:n.1785_1787del

Select item 148776928017.

rs1487769280 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:111982327 (GRCh38)
3:111701174 (GRCh37)
Canonical SPDI:: NC_000003.12:111982326:G:A,NC_000003.12:111982326:G:T
Gene:: ABHD10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.111982327G>A, NC_000003.12:g.111982327G>T, NC_000003.11:g.111701174G>A, NC_000003.11:g.111701174G>T