SNP Links for Gene (Select 9700) - SNP

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Select item 14915310821.

rs1491531082 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->TTTTTTGTTTGTTTTTTTTTTTTTTTTTT
Chromosome:: no mapping
Canonical SPDI:

Select item 14914441382.

rs1491444138 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 12:53288833 (GRCh38)
12:53682617 (GRCh37)
Canonical SPDI:: NC_000012.12:53288830:CTCT:CT
Gene:: ESPL1 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0.000071/1 (ALFA)
-=0.000053/14 (TOPMED)
-=0.000312/2 (1000Genomes)
-=0.00033/9 (GnomAD)
HGVS:: NC_000012.12:g.53288831CT[1], NC_000012.11:g.53682615CT[1], NW_025791795.1:g.12591CT[1]

Select item 14912887423.

rs1491288742 has merged into rs33920201 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 12:53272097 (GRCh38)
12:53665881 (GRCh37)
Canonical SPDI:: NC_000012.12:53272086:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:53272086:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:53272086:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:53272086:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:53272086:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:53272086:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:53272086:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:53272086:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:53272086:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: ESPL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
AA=0.1364/683 (1000Genomes)
HGVS:: NC_000012.12:g.53272097_53272104del, NC_000012.12:g.53272098_53272104del, NC_000012.12:g.53272099_53272104del, NC_000012.12:g.53272100_53272104del, NC_000012.12:g.53272101_53272104del, NC_000012.12:g.53272102_53272104del, NC_000012.12:g.53272103_53272104del, NC_000012.12:g.53272104del, NC_000012.12:g.53272104dup, NC_000012.11:g.53665881_53665888del, NC_000012.11:g.53665882_53665888del, NC_000012.11:g.53665883_53665888del, NC_000012.11:g.53665884_53665888del, NC_000012.11:g.53665885_53665888del, NC_000012.11:g.53665886_53665888del, NC_000012.11:g.53665887_53665888del, NC_000012.11:g.53665888del, NC_000012.11:g.53665888dup

Select item 14911756664.

rs1491175666 has merged into rs560945425 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,TTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:53275735 (GRCh38)
12:53669519 (GRCh37)
Canonical SPDI:: NC_000012.12:53275726:TTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000012.12:53275726:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:53275726:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:53275726:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:53275726:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:53275726:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:53275726:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:53275726:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:53275726:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ESPL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.16254/814 (1000Genomes)
-=0.35/14 (GENOME_DK)
HGVS:: NC_000012.12:g.53275735_53275745del, NC_000012.12:g.53275739_53275745del, NC_000012.12:g.53275742_53275745del, NC_000012.12:g.53275743_53275745del, NC_000012.12:g.53275744_53275745del, NC_000012.12:g.53275745del, NC_000012.12:g.53275745dup, NC_000012.12:g.53275744_53275745dup, NC_000012.12:g.53275740_53275745dup, NC_000012.11:g.53669519_53669529del, NC_000012.11:g.53669523_53669529del, NC_000012.11:g.53669526_53669529del, NC_000012.11:g.53669527_53669529del, NC_000012.11:g.53669528_53669529del, NC_000012.11:g.53669529del, NC_000012.11:g.53669529dup, NC_000012.11:g.53669528_53669529dup, NC_000012.11:g.53669524_53669529dup

Select item 14911309515.

rs1491130951 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 12:53266755 (GRCh38)
12:53660539 (GRCh37)
Canonical SPDI:: NC_000012.12:53266754:GT:
Gene:: ESPL1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
GT=0.180593/2962 (TOMMO)
GT=0.27164/477 (Korea1K)
GT=0.388441/49938 (GnomAD)
GT=0.444637/257 (NorthernSweden)
HGVS:: NC_000012.12:g.53266755_53266756del, NC_000012.11:g.53660539_53660540del

Select item 14910856516.

rs1491085651 has merged into rs1477923450 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>-,GAGA [Show Flanks]
Chromosome:: 12:53285028 (GRCh38)
12:53678812 (GRCh37)
Canonical SPDI:: NC_000012.12:53285026:AGA:A,NC_000012.12:53285026:AGA:AGAGA
Gene:: ESPL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGA=0./0 (ALFA)
AG=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.53285028_53285029del, NC_000012.12:g.53285028_53285029dup, NC_000012.11:g.53678812_53678813del, NC_000012.11:g.53678812_53678813dup, NW_025791795.1:g.8788_8789del, NW_025791795.1:g.8788_8789dup

Select item 14909544797.

rs1490954479 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:53281538 (GRCh38)
12:53675322 (GRCh37)
Canonical SPDI:: NC_000012.12:53281537:A:G
Gene:: ESPL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.53281538A>G, NC_000012.11:g.53675322A>G, NW_025791795.1:g.5298A>G, NM_012291.5:c.2531A>G, NM_012291.4:c.2531A>G, XM_006719705.4:c.2531A>G, XM_006719705.3:c.2531A>G, XM_006719705.2:c.2531A>G, XM_006719705.1:c.2531A>G, XM_011539024.3:c.2531A>G, XM_011539024.2:c.2531A>G, XM_011539024.1:c.2531A>G, XM_017020253.2:c.1556A>G, XM_017020253.1:c.1556A>G, XM_047429915.1:c.2531A>G, NP_036423.4:p.Lys844Arg, XP_006719768.1:p.Lys844Arg, XP_011537326.1:p.Lys844Arg, XP_016875742.1:p.Lys519Arg, XP_047285871.1:p.Lys844Arg

Select item 14909180928.

rs1490918092 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:53288500 (GRCh38)
12:53682284 (GRCh37)
Canonical SPDI:: NC_000012.12:53288499:G:T
Gene:: ESPL1 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.53288500G>T, NC_000012.11:g.53682284G>T, NW_025791795.1:g.12260G>T

Select item 14907297229.

rs1490729722 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:53272966 (GRCh38)
12:53666750 (GRCh37)
Canonical SPDI:: NC_000012.12:53272965:C:T
Gene:: ESPL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000447/2 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000446/2 (Estonian)
HGVS:: NC_000012.12:g.53272966C>T, NC_000012.11:g.53666750C>T

Select item 149072535810.

rs1490725358 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:53278732 (GRCh38)
12:53672516 (GRCh37)
Canonical SPDI:: NC_000012.12:53278731:C:G,NC_000012.12:53278731:C:T
Gene:: ESPL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
G=0.000177/3 (TOMMO)
HGVS:: NC_000012.12:g.53278732C>G, NC_000012.12:g.53278732C>T, NC_000012.11:g.53672516C>G, NC_000012.11:g.53672516C>T, NW_025791795.1:g.2492C>G, NW_025791795.1:g.2492C>T

Select item 149041416511.

rs1490414165 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:53293891 (GRCh38)
12:53687675 (GRCh37)
Canonical SPDI:: NC_000012.12:53293890:A:G
Gene:: PFDN5 (Varview), ESPL1 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000045/12 (TOPMED)
G=0.001092/2 (Korea1K)
G=0.002513/42 (TOMMO)
G=0.00308/9 (KOREAN)
HGVS:: NC_000012.12:g.53293891A>G, NC_000012.11:g.53687675A>G, NG_029695.1:g.3441A>G, NW_025791795.1:g.17651A>G

Select item 149035009612.

rs1490350096 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:53271176 (GRCh38)
12:53664960 (GRCh37)
Canonical SPDI:: NC_000012.12:53271175:T:G
Gene:: ESPL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.53271176T>G, NC_000012.11:g.53664960T>G

Select item 149031582413.

rs1490315824 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:53287164 (GRCh38)
12:53680948 (GRCh37)
Canonical SPDI:: NC_000012.12:53287163:T:C
Gene:: ESPL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000084/1 (ALFA)
C=0.000029/4 (GnomAD)
HGVS:: NC_000012.12:g.53287164T>C, NC_000012.11:g.53680948T>C, NW_025791795.1:g.10924T>C

Select item 149017738714.

rs1490177387 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:53291022 (GRCh38)
12:53684806 (GRCh37)
Canonical SPDI:: NC_000012.12:53291021:G:A
Gene:: ESPL1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.53291022G>A, NC_000012.11:g.53684806G>A, NG_029695.1:g.572G>A, NW_025791795.1:g.14782G>A

Select item 149010225015.

rs1490102250 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:53288078 (GRCh38)
12:53681862 (GRCh37)
Canonical SPDI:: NC_000012.12:53288077:C:G
Gene:: ESPL1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.53288078C>G, NC_000012.11:g.53681862C>G, NW_025791795.1:g.11838C>G, NM_012291.5:c.4283C>G, NM_012291.4:c.4283C>G, XM_006719705.4:c.4283C>G, XM_006719705.3:c.4283C>G, XM_006719705.2:c.4283C>G, XM_006719705.1:c.4283C>G, XM_011539024.3:c.4283C>G, XM_011539024.2:c.4283C>G, XM_011539024.1:c.4283C>G, XM_017020253.2:c.3308C>G, XM_017020253.1:c.3308C>G, XM_047429915.1:c.*93C>G, NP_036423.4:p.Ala1428Gly, XP_006719768.1:p.Ala1428Gly, XP_011537326.1:p.Ala1428Gly, XP_016875742.1:p.Ala1103Gly

Select item 149006612616.

rs1490066126 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:53292571 (GRCh38)
12:53686355 (GRCh37)
Canonical SPDI:: NC_000012.12:53292570:C:T
Gene:: ESPL1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
HGVS:: NC_000012.12:g.53292571C>T, NC_000012.11:g.53686355C>T, NG_029695.1:g.2121C>T, NW_025791795.1:g.16331C>T

Select item 149002217517.

rs1490022175 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:53292040 (GRCh38)
12:53685824 (GRCh37)
Canonical SPDI:: NC_000012.12:53292039:C:A
Gene:: ESPL1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.53292040C>A, NC_000012.11:g.53685824C>A, NG_029695.1:g.1590C>A, NW_025791795.1:g.15800C>A, NM_012291.5:c.5748C>A, NM_012291.4:c.5748C>A, XM_006719705.4:c.5748C>A, XM_006719705.3:c.5748C>A, XM_006719705.2:c.5748C>A, XM_006719705.1:c.5748C>A, XM_017020253.2:c.4773C>A, XM_017020253.1:c.4773C>A, XM_011539024.3:c.5748C>A, XM_011539024.2:c.5748C>A, XM_011539024.1:c.5748C>A

Select item 148977141318.

rs1489771413 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:53276638 (GRCh38)
12:53670422 (GRCh37)
Canonical SPDI:: NC_000012.12:53276637:C:T
Gene:: ESPL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.53276638C>T, NC_000012.11:g.53670422C>T, NW_025791795.1:g.398C>T, NM_012291.5:c.1719C>T, NM_012291.4:c.1719C>T, XM_006719705.4:c.1719C>T, XM_006719705.3:c.1719C>T, XM_006719705.2:c.1719C>T, XM_006719705.1:c.1719C>T, XM_011539024.3:c.1719C>T, XM_011539024.2:c.1719C>T, XM_011539024.1:c.1719C>T, XM_017020253.2:c.744C>T, XM_017020253.1:c.744C>T, XM_047429915.1:c.1719C>T

Select item 148976386719.

rs1489763867 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:53292023 (GRCh38)
12:53685807 (GRCh37)
Canonical SPDI:: NC_000012.12:53292022:C:G
Gene:: ESPL1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.53292023C>G, NC_000012.11:g.53685807C>G, NG_029695.1:g.1573C>G, NW_025791795.1:g.15783C>G, NM_012291.5:c.5731C>G, NM_012291.4:c.5731C>G, XM_006719705.4:c.5731C>G, XM_006719705.3:c.5731C>G, XM_006719705.2:c.5731C>G, XM_006719705.1:c.5731C>G, XM_017020253.2:c.4756C>G, XM_017020253.1:c.4756C>G, XM_011539024.3:c.5731C>G, XM_011539024.2:c.5731C>G, XM_011539024.1:c.5731C>G, NP_036423.4:p.Gln1911Glu, XP_006719768.1:p.Gln1911Glu, XP_016875742.1:p.Gln1586Glu, XP_011537326.1:p.Gln1911Glu

Select item 148968641120.

rs1489686411 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:53277732 (GRCh38)
12:53671516 (GRCh37)
Canonical SPDI:: NC_000012.12:53277731:C:T
Gene:: ESPL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.53277732C>T, NC_000012.11:g.53671516C>T, NW_025791795.1:g.1492C>T

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