SNP Links for Gene (Select 84836) - SNP

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Select item 14914498021.

rs1491449802 has merged into rs549700735 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:51973512 (GRCh38)
3:52007528 (GRCh37)
Canonical SPDI:: NC_000003.12:51973505:TTTTTTTTTTTTT:TTTTTT,NC_000003.12:51973505:TTTTTTTTTTTTT:TTTTTTTTT,NC_000003.12:51973505:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:51973505:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:51973505:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:51973505:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:51973505:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:51973505:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:51973505:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:51973505:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:51973505:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ABHD14A (Varview), ABHD14B (Varview), ABHD14A-ACY1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.51973512_51973518del, NC_000003.12:g.51973515_51973518del, NC_000003.12:g.51973516_51973518del, NC_000003.12:g.51973517_51973518del, NC_000003.12:g.51973518del, NC_000003.12:g.51973518dup, NC_000003.12:g.51973517_51973518dup, NC_000003.12:g.51973516_51973518dup, NC_000003.12:g.51973507_51973518dup, NC_000003.12:g.51973518_51973519insTTTTTTTTTTTTTTT, NC_000003.12:g.51973518_51973519insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.52007528_52007534del, NC_000003.11:g.52007531_52007534del, NC_000003.11:g.52007532_52007534del, NC_000003.11:g.52007533_52007534del, NC_000003.11:g.52007534del, NC_000003.11:g.52007534dup, NC_000003.11:g.52007533_52007534dup, NC_000003.11:g.52007532_52007534dup, NC_000003.11:g.52007523_52007534dup, NC_000003.11:g.52007534_52007535insTTTTTTTTTTTTTTT, NC_000003.11:g.52007534_52007535insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14912640672.

rs1491264067 has merged into rs111955253 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G,GGG,GGGG,GGGGG,GGGGGG [Show Flanks]
Chromosome:: 3:51975464 (GRCh38)
3:52009480 (GRCh37)
Canonical SPDI:: NC_000003.12:51975455:GGGGGGGGGG:GGGGGGGG,NC_000003.12:51975455:GGGGGGGGGG:GGGGGGGGG,NC_000003.12:51975455:GGGGGGGGGG:GGGGGGGGGGG,NC_000003.12:51975455:GGGGGGGGGG:GGGGGGGGGGGG,NC_000003.12:51975455:GGGGGGGGGG:GGGGGGGGGGGGG,NC_000003.12:51975455:GGGGGGGGGG:GGGGGGGGGGGGGG
Gene:: ABHD14A (Varview), ABHD14B (Varview), ABHD14A-ACY1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGGGG=0./0 (ALFA)
HGVS:: NC_000003.12:g.51975464_51975465del, NC_000003.12:g.51975465del, NC_000003.12:g.51975465dup, NC_000003.12:g.51975464_51975465dup, NC_000003.12:g.51975463_51975465dup, NC_000003.12:g.51975462_51975465dup, NC_000003.11:g.52009480_52009481del, NC_000003.11:g.52009481del, NC_000003.11:g.52009481dup, NC_000003.11:g.52009480_52009481dup, NC_000003.11:g.52009479_52009481dup, NC_000003.11:g.52009478_52009481dup

Select item 14912439913.

rs1491243991 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTTTTTTTTT [Show Flanks]
Chromosome:: 3:51973506 (GRCh38)
3:52007523 (GRCh37)
Canonical SPDI:: NC_000003.12:51973506:TTTTTTTTTT:TTTTTTTTTTCTTTTTTTTTT
Gene:: ABHD14A (Varview), ABHD14B (Varview), ABHD14A-ACY1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTCTTTTTTTTTT=0.000843/10 (ALFA)
TTTTTTTTTTC=0.002119/237 (GnomAD)
HGVS:: NC_000003.12:g.51973507_51973516T[10]CTTTTTTTTTT[1], NC_000003.11:g.52007523_52007532T[10]CTTTTTTTTTT[1]

Select item 14909502374.

rs1490950237 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:51969795 (GRCh38)
3:52003811 (GRCh37)
Canonical SPDI:: NC_000003.12:51969794:C:G
Gene:: ABHD14B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.51969795C>G, NC_000003.11:g.52003811C>G, NG_029694.1:g.2672G>C

Select item 14909148035.

rs1490914803 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:51971631 (GRCh38)
3:52005647 (GRCh37)
Canonical SPDI:: NC_000003.12:51971630:C:T
Gene:: ABHD14B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000047/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.51971631C>T, NC_000003.11:g.52005647C>T, NG_029694.1:g.836G>A, NM_032750.3:c.40G>A, NM_032750.2:c.40G>A, NM_001146314.2:c.40G>A, NM_001146314.1:c.40G>A, NP_116139.1:p.Val14Met, NP_001139786.1:p.Val14Met

Select item 14905713226.

rs1490571322 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 3:51972898 (GRCh38)
3:52006914 (GRCh37)
Canonical SPDI:: NC_000003.12:51972897:A:G,NC_000003.12:51972897:A:T
Gene:: ABHD14B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000054/1 (ALFA)
G=0.000029/4 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000003.12:g.51972898A>G, NC_000003.12:g.51972898A>T, NC_000003.11:g.52006914A>G, NC_000003.11:g.52006914A>T

Select item 14904523337.

rs1490452333 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:51972357 (GRCh38)
3:52006373 (GRCh37)
Canonical SPDI:: NC_000003.12:51972356:G:A
Gene:: ABHD14B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.51972357G>A, NC_000003.11:g.52006373G>A, NG_029694.1:g.110C>T

Select item 14900964868.

rs1490096486 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 3:51970619 (GRCh38)
3:52004635 (GRCh37)
Canonical SPDI:: NC_000003.12:51970618:G:C,NC_000003.12:51970618:G:T
Gene:: ABHD14B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.51970619G>C, NC_000003.12:g.51970619G>T, NC_000003.11:g.52004635G>C, NC_000003.11:g.52004635G>T, NG_029694.1:g.1848C>G, NG_029694.1:g.1848C>A

Select item 14891401869.

rs1489140186 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:51971549 (GRCh38)
3:52005565 (GRCh37)
Canonical SPDI:: NC_000003.12:51971548:A:T
Gene:: ABHD14B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_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_000003.12:g.51971549A>T, NC_000003.11:g.52005565A>T, NG_029694.1:g.918T>A, NM_032750.3:c.122T>A, NM_032750.2:c.122T>A, NM_001146314.2:c.122T>A, NM_001146314.1:c.122T>A, NP_116139.1:p.Ile41Asn, NP_001139786.1:p.Ile41Asn

Select item 148913210610.

rs1489132106 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:51969267 (GRCh38)
3:52003283 (GRCh37)
Canonical SPDI:: NC_000003.12:51969266:G:C
Gene:: PCBP4 (Varview), ABHD14B (Varview)
Functional Consequence:: upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.51969267G>C, NC_000003.11:g.52003283G>C, NG_029694.1:g.3200C>G, NM_032750.3:c.*159C>G, NM_032750.2:c.*159C>G, NM_001146314.2:c.*159C>G, NM_001146314.1:c.*159C>G, NR_027476.1:n.1247C>G, NM_001254753.1:c.*159C>G

Select item 148807169311.

rs1488071693 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:51976130 (GRCh38)
3:52010146 (GRCh37)
Canonical SPDI:: NC_000003.12:51976129:A:G
Gene:: ABHD14A (Varview), ABHD14B (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=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.51976130A>G, NC_000003.11:g.52010146A>G, NG_077228.1:g.258A>G

Select item 148716832012.

rs1487168320 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:51968405 (GRCh38)
3:52002421 (GRCh37)
Canonical SPDI:: NC_000003.12:51968404:A:C
Gene:: PCBP4 (Varview), ABHD14B (Varview)
Functional Consequence:: upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000003.12:g.51968405A>C, NC_000003.11:g.52002421A>C, NG_029694.1:g.4062T>G

Select item 148712988213.

rs1487129882 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:51971759 (GRCh38)
3:52005775 (GRCh37)
Canonical SPDI:: NC_000003.12:51971758:C:T
Gene:: ABHD14B (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.51971759C>T, NC_000003.11:g.52005775C>T, NG_029694.1:g.708G>A, NM_032750.3:c.-89G>A, NM_032750.2:c.-89G>A

Select item 148712617614.

rs1487126176 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:51973952 (GRCh38)
3:52007968 (GRCh37)
Canonical SPDI:: NC_000003.12:51973951:G:A
Gene:: ABHD14A (Varview), ABHD14B (Varview), ABHD14A-ACY1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000003.12:g.51973952G>A, NC_000003.11:g.52007968G>A

Select item 148700516215.

rs1487005162 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 3:51968468 (GRCh38)
3:52002484 (GRCh37)
Canonical SPDI:: NC_000003.12:51968467:A:
Gene:: PCBP4 (Varview), ABHD14B (Varview)
Functional Consequence:: upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
-=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.51968468del, NC_000003.11:g.52002484del, NG_029694.1:g.3999del

Select item 148684414316.

rs1486844143 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:51970188 (GRCh38)
3:52004204 (GRCh37)
Canonical SPDI:: NC_000003.12:51970187:C:A
Gene:: ABHD14B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.51970188C>A, NC_000003.11:g.52004204C>A, NG_029694.1:g.2279G>T

Select item 148681291117.

rs1486812911 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:51968942 (GRCh38)
3:52002958 (GRCh37)
Canonical SPDI:: NC_000003.12:51968941:T:C
Gene:: PCBP4 (Varview), ABHD14B (Varview)
Functional Consequence:: upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000003.12:g.51968942T>C, NC_000003.11:g.52002958T>C, NG_029694.1:g.3525A>G, NM_032750.3:c.*484A>G, NM_032750.2:c.*484A>G, NM_001146314.2:c.*484A>G, NM_001146314.1:c.*484A>G, NR_027476.1:n.1572A>G, NM_001254753.1:c.*484A>G

Select item 148662413818.

rs1486624138 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:51975370 (GRCh38)
3:52009386 (GRCh37)
Canonical SPDI:: NC_000003.12:51975369:C:A
Gene:: ABHD14A (Varview), ABHD14B (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=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.51975370C>A, NC_000003.11:g.52009386C>A

Select item 148659306719.

rs1486593067 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:51976315 (GRCh38)
3:52010331 (GRCh37)
Canonical SPDI:: NC_000003.12:51976314:G:A,NC_000003.12:51976314:G:C
Gene:: ABHD14A (Varview), ABHD14B (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=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.51976315G>A, NC_000003.12:g.51976315G>C, NC_000003.11:g.52010331G>A, NC_000003.11:g.52010331G>C, NG_077228.1:g.443G>A, NG_077228.1:g.443G>C

Select item 148626874120.

rs1486268741 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 3:51975956 (GRCh38)
3:52009972 (GRCh37)
Canonical SPDI:: NC_000003.12:51975955:C:A,NC_000003.12:51975955:C:G,NC_000003.12:51975955:C:T
Gene:: ABHD14A (Varview), ABHD14B (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)
G=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.51975956C>A, NC_000003.12:g.51975956C>G, NC_000003.12:g.51975956C>T, NC_000003.11:g.52009972C>A, NC_000003.11:g.52009972C>G, NC_000003.11:g.52009972C>T, NG_077228.1:g.84C>A, NG_077228.1:g.84C>G, NG_077228.1:g.84C>T

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