SNP Links for Gene (Select 283848) - SNP

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Select item 14910101431.

rs1491010143 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AG [Show Flanks]
Chromosome:: 16:66997998 (GRCh38)
16:67031902 (GRCh37)
Canonical SPDI:: NC_000016.10:66997998:AG:AGAG
Gene:: CES4A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0./0 (ALFA)
AG=0.000004/1 (TOPMED)
AG=0.000016/2 (GnomAD)
HGVS:: NC_000016.10:g.66997999_66998000dup, NC_000016.9:g.67031902_67031903dup

Select item 14908331702.

rs1490833170 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:67003595 (GRCh38)
16:67037498 (GRCh37)
Canonical SPDI:: NC_000016.10:67003594:C:A,NC_000016.10:67003594:C:T
Gene:: CES4A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000016.10:g.67003595C>A, NC_000016.10:g.67003595C>T, NC_000016.9:g.67037498C>A, NC_000016.9:g.67037498C>T

Select item 14906991353.

rs1490699135 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:66994444 (GRCh38)
16:67028347 (GRCh37)
Canonical SPDI:: NC_000016.10:66994443:C:T
Gene:: CES4A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.66994444C>T, NC_000016.9:g.67028347C>T

Select item 14905200964.

rs1490520096 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 16:66995332 (GRCh38)
16:67029235 (GRCh37)
Canonical SPDI:: NC_000016.10:66995331:T:A,NC_000016.10:66995331:T:C
Gene:: CES4A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000016.10:g.66995332T>A, NC_000016.10:g.66995332T>C, NC_000016.9:g.67029235T>A, NC_000016.9:g.67029235T>C

Select item 14905116495.

rs1490511649 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:66993605 (GRCh38)
16:67027508 (GRCh37)
Canonical SPDI:: NC_000016.10:66993604:A:G
Gene:: CES4A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000094/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.66993605A>G, NC_000016.9:g.67027508A>G

Select item 14902249816.

rs1490224981 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:66994084 (GRCh38)
16:67027987 (GRCh37)
Canonical SPDI:: NC_000016.10:66994083:G:C
Gene:: CES4A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_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_000016.10:g.66994084G>C, NC_000016.9:g.67027987G>C

Select item 14900218937.

rs1490021893 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:66994421 (GRCh38)
16:67028324 (GRCh37)
Canonical SPDI:: NC_000016.10:66994420:G:A
Gene:: CES4A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (Korea1K)
A=0.000007/1 (GnomAD)
A=0.000684/2 (KOREAN)
HGVS:: NC_000016.10:g.66994421G>A, NC_000016.9:g.67028324G>A

Select item 14898502018.

rs1489850201 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:67001358 (GRCh38)
16:67035261 (GRCh37)
Canonical SPDI:: NC_000016.10:67001357:C:T
Gene:: CES4A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000016.10:g.67001358C>T, NC_000016.9:g.67035261C>T, NM_173815.7:c.587C>T, NM_173815.6:c.587C>T, XM_011523021.3:c.788C>T, XM_011523021.2:c.788C>T, XM_011523021.1:c.788C>T, XM_011523023.3:c.776C>T, XM_011523023.2:c.776C>T, XM_011523023.1:c.776C>T, XM_011523025.3:c.788C>T, XM_011523025.2:c.788C>T, XM_011523025.1:c.788C>T, XM_011523028.3:c.632C>T, XM_011523028.2:c.632C>T, XM_011523028.1:c.632C>T, XM_011523026.3:c.668C>T, XM_011523026.2:c.668C>T, XM_011523026.1:c.668C>T, XM_011523027.3:c.788C>T, XM_011523027.2:c.788C>T, XM_011523027.1:c.788C>T, XM_011523029.3:c.788C>T, XM_011523029.2:c.788C>T, XM_011523029.1:c.788C>T, XM_011523030.3:c.656C>T, XM_011523030.2:c.656C>T, XM_011523030.1:c.656C>T, XM_017023160.2:c.776C>T, XM_017023160.1:c.776C>T, XM_017023161.2:c.776C>T, XM_017023161.1:c.776C>T, XM_017023163.2:c.788C>T, XM_017023163.1:c.788C>T, XM_017023165.2:c.776C>T, XM_017023165.1:c.776C>T, XM_017023164.2:c.776C>T, XM_017023164.1:c.776C>T, XM_017023166.2:c.788C>T, XM_017023166.1:c.788C>T, NM_001318506.2:c.5C>T, NM_001318506.1:c.5C>T, NM_001190201.2:c.293C>T, NM_001190201.1:c.293C>T, NM_001190202.2:c.305C>T, NM_001190202.1:c.305C>T, XM_024450235.2:c.293C>T, XM_024450235.1:c.293C>T, NM_001364782.1:c.587C>T, NM_001190200.1:c.656C>T, NP_776176.5:p.Ala196Val, XP_011521323.1:p.Ala263Val, XP_011521325.1:p.Ala259Val, XP_011521327.1:p.Ala263Val, XP_011521330.1:p.Ala211Val, XP_011521328.1:p.Ala223Val, XP_011521329.1:p.Ala263Val, XP_011521331.1:p.Ala263Val, XP_011521332.1:p.Ala219Val, XP_016878649.1:p.Ala259Val, XP_016878650.1:p.Ala259Val, XP_016878652.1:p.Ala263Val, XP_016878654.1:p.Ala259Val, XP_016878653.1:p.Ala259Val, XP_016878655.1:p.Ala263Val, NP_001305435.1:p.Ala2Val, NP_001177130.1:p.Ala98Val, NP_001177131.1:p.Ala102Val, XP_024306003.1:p.Ala98Val, NP_001351711.1:p.Ala196Val

Select item 14897058109.

rs1489705810 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:67007720 (GRCh38)
16:67041623 (GRCh37)
Canonical SPDI:: NC_000016.10:67007719:A:G
Gene:: CES4A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000142/2 (ALFA)
G=0.000021/3 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000016.10:g.67007720A>G, NC_000016.9:g.67041623A>G

Select item 148959029110.

rs1489590291 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAG>- [Show Flanks]
Chromosome:: 16:67000193 (GRCh38)
16:67034096 (GRCh37)
Canonical SPDI:: NC_000016.10:67000187:AGGAGGAG:AGGAG
Gene:: CES4A (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AGGAG=0./0 (ALFA)
-=0.000015/4 (TOPMED)
HGVS:: NC_000016.10:g.67000190GAG[1], NC_000016.9:g.67034093GAG[1]

Select item 148948052211.

rs1489480522 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:66998399 (GRCh38)
16:67032302 (GRCh37)
Canonical SPDI:: NC_000016.10:66998398:G:A
Gene:: CES4A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.66998399G>A, NC_000016.9:g.67032302G>A

Select item 148926077812.

rs1489260778 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:67010046 (GRCh38)
16:67043949 (GRCh37)
Canonical SPDI:: NC_000016.10:67010045:T:C
Gene:: CES4A (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000021/3 (GnomAD)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000016.10:g.67010046T>C, NC_000016.9:g.67043949T>C, NM_173815.7:c.*981T>C, XM_011523021.3:c.*904T>C, XM_011523023.3:c.*904T>C, XM_011523025.3:c.*904T>C, XM_011523028.3:c.*904T>C, XM_011523026.3:c.*904T>C, XM_011523027.3:c.*904T>C, XM_011523029.3:c.*981T>C, XM_011523030.3:c.*904T>C, XM_017023160.2:c.*904T>C, XM_017023161.2:c.*904T>C, XM_017023163.2:c.*904T>C, XM_017023165.2:c.*981T>C, XM_017023164.2:c.*904T>C, XM_017023166.2:c.*981T>C, NM_001318506.2:c.*904T>C, NM_001190201.2:c.*904T>C, NM_001190202.2:c.*981T>C, XM_024450235.2:c.*981T>C, NM_001364782.1:c.*904T>C

Select item 148913641313.

rs1489136413 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:67009332 (GRCh38)
16:67043235 (GRCh37)
Canonical SPDI:: NC_000016.10:67009331:A:C
Gene:: CES4A (Varview)
Functional Consequence:: 3_prime_UTR_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_000016.10:g.67009332A>C, NC_000016.9:g.67043235A>C, NM_173815.7:c.*267A>C, NM_173815.6:c.*267A>C, XM_011523021.3:c.*190A>C, XM_011523021.2:c.*190A>C, XM_011523021.1:c.*190A>C, XM_011523023.3:c.*190A>C, XM_011523023.2:c.*190A>C, XM_011523023.1:c.*190A>C, XM_011523025.3:c.*190A>C, XM_011523025.2:c.*190A>C, XM_011523025.1:c.*190A>C, XM_011523028.3:c.*190A>C, XM_011523028.2:c.*190A>C, XM_011523028.1:c.*190A>C, XM_011523026.3:c.*190A>C, XM_011523026.2:c.*190A>C, XM_011523026.1:c.*190A>C, XM_011523027.3:c.*190A>C, XM_011523027.2:c.*190A>C, XM_011523027.1:c.*190A>C, XM_011523029.3:c.*267A>C, XM_011523029.2:c.*267A>C, XM_011523029.1:c.*267A>C, XM_011523030.3:c.*190A>C, XM_011523030.2:c.*190A>C, XM_011523030.1:c.*190A>C, XM_017023160.2:c.*190A>C, XM_017023160.1:c.*190A>C, XM_017023161.2:c.*190A>C, XM_017023161.1:c.*190A>C, XM_017023163.2:c.*190A>C, XM_017023163.1:c.*190A>C, XM_017023165.2:c.*267A>C, XM_017023165.1:c.*267A>C, XM_017023164.2:c.*190A>C, XM_017023164.1:c.*190A>C, XM_017023166.2:c.*267A>C, XM_017023166.1:c.*267A>C, NM_001318506.2:c.*190A>C, NM_001318506.1:c.*190A>C, NM_001190201.2:c.*190A>C, NM_001190201.1:c.*190A>C, NM_001190202.2:c.*267A>C, NM_001190202.1:c.*267A>C, XM_024450235.2:c.*267A>C, XM_024450235.1:c.*267A>C, NM_001364782.1:c.*190A>C, NM_001190200.1:c.*267A>C

Select item 148908863914.

rs1489088639 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAG>- [Show Flanks]
Chromosome:: 16:67000423 (GRCh38)
16:67034326 (GRCh37)
Canonical SPDI:: NC_000016.10:67000421:GCAG:G
Gene:: CES4A (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
-=0.000029/4 (GnomAD)
-=0.000042/11 (TOPMED)
HGVS:: NC_000016.10:g.67000423_67000425del, NC_000016.9:g.67034326_67034328del

Select item 148893974215.

rs1488939742 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:67001110 (GRCh38)
16:67035013 (GRCh37)
Canonical SPDI:: NC_000016.10:67001109:G:T
Gene:: CES4A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000022/3 (GnomAD)
HGVS:: NC_000016.10:g.67001110G>T, NC_000016.9:g.67035013G>T

Select item 148877517216.

rs1488775172 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:66999825 (GRCh38)
16:67033728 (GRCh37)
Canonical SPDI:: NC_000016.10:66999824:G:A
Gene:: CES4A (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
A=0.003765/11 (KOREAN)
A=0.003821/7 (Korea1K)
A=0.003999/67 (TOMMO)
HGVS:: NC_000016.10:g.66999825G>A, NC_000016.9:g.67033728G>A

Select item 148853271817.

rs1488532718 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:67004694 (GRCh38)
16:67038597 (GRCh37)
Canonical SPDI:: NC_000016.10:67004693:C:G
Gene:: CES4A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.67004694C>G, NC_000016.9:g.67038597C>G

Select item 148836509918.

rs1488365099 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:66993712 (GRCh38)
16:67027615 (GRCh37)
Canonical SPDI:: NC_000016.10:66993711:T:C
Gene:: CES4A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000016.10:g.66993712T>C, NC_000016.9:g.67027615T>C

Select item 148817322019.

rs1488173220 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:66994816 (GRCh38)
16:67028719 (GRCh37)
Canonical SPDI:: NC_000016.10:66994815:G:A,NC_000016.10:66994815:G:T
Gene:: CES4A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000015/2 (GnomAD)
HGVS:: NC_000016.10:g.66994816G>A, NC_000016.10:g.66994816G>T, NC_000016.9:g.67028719G>A, NC_000016.9:g.67028719G>T

Select item 148804370720.

rs1488043707 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:66995578 (GRCh38)
16:67029481 (GRCh37)
Canonical SPDI:: NC_000016.10:66995577:T:C
Gene:: CES4A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_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_000016.10:g.66995578T>C, NC_000016.9:g.67029481T>C

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