SNP Links for Gene (Select 8550) - SNP

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Select item 14915709041.

rs1491570904 has merged into rs200989666 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 12:111843447 (GRCh38)
12:112281251 (GRCh37)
Canonical SPDI:: NC_000012.12:111843435:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:111843435:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:111843435:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:111843435:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: MAPKAPK5 (Varview), MAPKAPK5-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.05/2 (GENOME_DK)
HGVS:: NC_000012.12:g.111843447_111843448del, NC_000012.12:g.111843448del, NC_000012.12:g.111843448dup, NC_000012.12:g.111843447_111843448dup, NC_000012.11:g.112281251_112281252del, NC_000012.11:g.112281252del, NC_000012.11:g.112281252dup, NC_000012.11:g.112281251_112281252dup

Select item 14913644472.

rs1491364447 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTT [Show Flanks]
Chromosome:: 12:111875358 (GRCh38)
12:112313163 (GRCh37)
Canonical SPDI:: NC_000012.12:111875358:GTT:GTTGTT
Gene:: MAPKAPK5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTTGTT=0./0 (ALFA)
GTT=0.000034/9 (TOPMED)
GTT=0.000036/5 (GnomAD)
HGVS:: NC_000012.12:g.111875359_111875361dup, NC_000012.11:g.112313163_112313165dup

Select item 14913250423.

rs1491325042 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 12:111861156 (GRCh38)
12:112298960 (GRCh37)
Canonical SPDI:: NC_000012.12:111861155:TA:
Gene:: MAPKAPK5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000023/6 (TOPMED)
HGVS:: NC_000012.12:g.111861156_111861157del, NC_000012.11:g.112298960_112298961del

Select item 14912735794.

rs1491273579 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 12:111894759 (GRCh38)
12:112332563 (GRCh37)
Canonical SPDI:: NC_000012.12:111894758:CG:
Gene:: MAPKAPK5 (Varview), TMEM116 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.000084/1 (ALFA)
-=0.000018/2 (GnomAD)
HGVS:: NC_000012.12:g.111894759_111894760del, NC_000012.11:g.112332563_112332564del, NM_003668.4:c.*1698_*1699del, NM_139078.3:c.*1698_*1699del, NM_001371481.1:c.*1698_*1699del, NM_001371482.1:c.*1698_*1699del, NM_001371483.1:c.*1698_*1699del, NM_001371484.1:c.*1698_*1699del, NM_001371485.1:c.*1698_*1699del, NM_001371486.1:c.*1698_*1699del, NM_001371487.1:c.*1698_*1699del, XM_047429838.1:c.*230_*231del

Select item 14912498455.

rs1491249845 has merged into rs34005167 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:111874784 (GRCh38)
12:112312588 (GRCh37)
Canonical SPDI:: NC_000012.12:111874773:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:111874773:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:111874773:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:111874773:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:111874773:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:111874773:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:111874773:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:111874773:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:111874773:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:111874773:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:111874773:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MAPKAPK5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.01672/10 (NorthernSweden)
HGVS:: NC_000012.12:g.111874784_111874792del, NC_000012.12:g.111874786_111874792del, NC_000012.12:g.111874788_111874792del, NC_000012.12:g.111874789_111874792del, NC_000012.12:g.111874790_111874792del, NC_000012.12:g.111874791_111874792del, NC_000012.12:g.111874792del, NC_000012.12:g.111874792dup, NC_000012.12:g.111874791_111874792dup, NC_000012.12:g.111874789_111874792dup, NC_000012.12:g.111874785_111874792dup, NC_000012.11:g.112312588_112312596del, NC_000012.11:g.112312590_112312596del, NC_000012.11:g.112312592_112312596del, NC_000012.11:g.112312593_112312596del, NC_000012.11:g.112312594_112312596del, NC_000012.11:g.112312595_112312596del, NC_000012.11:g.112312596del, NC_000012.11:g.112312596dup, NC_000012.11:g.112312595_112312596dup, NC_000012.11:g.112312593_112312596dup, NC_000012.11:g.112312589_112312596dup

Select item 14911623526.

rs1491162352 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTTT [Show Flanks]
Chromosome:: 12:111902485 (GRCh38)
12:112340290 (GRCh37)
Canonical SPDI:: NC_000012.12:111902485:TTT:TTTGTTT
Gene:: MAPKAPK5 (Varview), TMEM116 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TTTGTTT=0.00025/3 (ALFA)
HGVS:: NC_000012.12:g.111902488_111902489insGTTT, NC_000012.11:g.112340292_112340293insGTTT

Select item 14911578317.

rs1491157831 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 12:111874773 (GRCh38)
12:112312577 (GRCh37)
Canonical SPDI:: NC_000012.12:111874772:CT:
Gene:: MAPKAPK5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00001/1 (GnomAD)
HGVS:: NC_000012.12:g.111874773_111874774del, NC_000012.11:g.112312577_112312578del

Select item 14911562078.

rs1491156207 has merged into rs929966018 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 12:111861157 (GRCh38)
12:112298961 (GRCh37)
Canonical SPDI:: NC_000012.12:111861156:AAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:111861156:AAAAAAAAAAA:AAAAAAAAAAAA
Gene:: MAPKAPK5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000012.12:g.111861167del, NC_000012.12:g.111861167dup, NC_000012.11:g.112298971del, NC_000012.11:g.112298971dup

Select item 14911510049.

rs1491151004 has merged into rs1182165458 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:111902499 (GRCh38)
12:112340303 (GRCh37)
Canonical SPDI:: NC_000012.12:111902484:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:111902484:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:111902484:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:111902484:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:111902484:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:111902484:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:111902484:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:111902484:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:111902484:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:111902484:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:111902484:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:111902484:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:111902484:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:111902484:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:111902484:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:111902484:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:111902484:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:111902484:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:111902484:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:111902484:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MAPKAPK5 (Varview), TMEM116 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000012.12:g.111902499_111902502del, NC_000012.12:g.111902500_111902502del, NC_000012.12:g.111902501_111902502del, NC_000012.12:g.111902502del, NC_000012.12:g.111902502dup, NC_000012.12:g.111902501_111902502dup, NC_000012.12:g.111902500_111902502dup, NC_000012.12:g.111902499_111902502dup, NC_000012.12:g.111902498_111902502dup, NC_000012.12:g.111902497_111902502dup, NC_000012.12:g.111902496_111902502dup, NC_000012.12:g.111902495_111902502dup, NC_000012.12:g.111902494_111902502dup, NC_000012.12:g.111902493_111902502dup, NC_000012.12:g.111902492_111902502dup, NC_000012.12:g.111902491_111902502dup, NC_000012.12:g.111902490_111902502dup, NC_000012.12:g.111902488_111902502dup, NC_000012.12:g.111902502_111902503insTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.111902502_111902503insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.112340303_112340306del, NC_000012.11:g.112340304_112340306del, NC_000012.11:g.112340305_112340306del, NC_000012.11:g.112340306del, NC_000012.11:g.112340306dup, NC_000012.11:g.112340305_112340306dup, NC_000012.11:g.112340304_112340306dup, NC_000012.11:g.112340303_112340306dup, NC_000012.11:g.112340302_112340306dup, NC_000012.11:g.112340301_112340306dup, NC_000012.11:g.112340300_112340306dup, NC_000012.11:g.112340299_112340306dup, NC_000012.11:g.112340298_112340306dup, NC_000012.11:g.112340297_112340306dup, NC_000012.11:g.112340296_112340306dup, NC_000012.11:g.112340295_112340306dup, NC_000012.11:g.112340294_112340306dup, NC_000012.11:g.112340292_112340306dup, NC_000012.11:g.112340306_112340307insTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.112340306_112340307insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149111658910.

rs1491116589 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:111876205 (GRCh38)
12:112314009 (GRCh37)
Canonical SPDI:: NC_000012.12:111876204:CA:
Gene:: MAPKAPK5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000012.12:g.111876205_111876206del, NC_000012.11:g.112314009_112314010del

Select item 149103828011.

rs1491038280 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 12:111840944 (GRCh38)
12:112278748 (GRCh37)
Canonical SPDI:: NC_000012.12:111840942:TCT:T
Gene:: MAPKAPK5 (Varview), MAPKAPK5-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.111840944_111840945del, NC_000012.11:g.112278748_112278749del

Select item 149099721712.

rs1490997217 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:111854964 (GRCh38)
12:112292768 (GRCh37)
Canonical SPDI:: NC_000012.12:111854963:A:G
Gene:: MAPKAPK5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000029/4 (GnomAD)
G=0.000034/9 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000012.12:g.111854964A>G, NC_000012.11:g.112292768A>G

Select item 149099525013.

rs1490995250 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:111858150 (GRCh38)
12:112295954 (GRCh37)
Canonical SPDI:: NC_000012.12:111858149:A:G
Gene:: MAPKAPK5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.111858150A>G, NC_000012.11:g.112295954A>G

Select item 149089345814.

rs1490893458 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:111893199 (GRCh38)
12:112331003 (GRCh37)
Canonical SPDI:: NC_000012.12:111893198:T:C
Gene:: MAPKAPK5 (Varview), TMEM116 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.111893199T>C, NC_000012.11:g.112331003T>C, NM_003668.4:c.*138T>C, NM_003668.3:c.*138T>C, NM_139078.3:c.*138T>C, NM_139078.2:c.*138T>C, NM_001371481.1:c.*138T>C, NM_001371482.1:c.*138T>C, NM_001371483.1:c.*138T>C, NM_001371484.1:c.*138T>C, NM_001371485.1:c.*138T>C, NM_001371486.1:c.*138T>C, NM_001371487.1:c.*138T>C, XM_047429838.1:c.*1791A>G

Select item 149088222815.

rs1490882228 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:111874951 (GRCh38)
12:112312755 (GRCh37)
Canonical SPDI:: NC_000012.12:111874950:A:G
Gene:: MAPKAPK5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.111874951A>G, NC_000012.11:g.112312755A>G

Select item 149080471116.

rs1490804711 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:111873521 (GRCh38)
12:112311325 (GRCh37)
Canonical SPDI:: NC_000012.12:111873520:T:C
Gene:: MAPKAPK5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.111873521T>C, NC_000012.11:g.112311325T>C

Select item 149079404717.

rs1490794047 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:111866125 (GRCh38)
12:112303929 (GRCh37)
Canonical SPDI:: NC_000012.12:111866124:T:G
Gene:: MAPKAPK5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.111866125T>G, NC_000012.11:g.112303929T>G

Select item 149066917718.

rs1490669177 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:111883533 (GRCh38)
12:112321337 (GRCh37)
Canonical SPDI:: NC_000012.12:111883532:G:A
Gene:: MAPKAPK5 (Varview)
Functional Consequence:: intron_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_000012.12:g.111883533G>A, NC_000012.11:g.112321337G>A

Select item 149041854319.

rs1490418543 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:111851533 (GRCh38)
12:112289337 (GRCh37)
Canonical SPDI:: NC_000012.12:111851532:C:T
Gene:: MAPKAPK5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.111851533C>T, NC_000012.11:g.112289337C>T

Select item 149038459620.

rs1490384596 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:111889399 (GRCh38)
12:112327203 (GRCh37)
Canonical SPDI:: NC_000012.12:111889398:G:A
Gene:: MAPKAPK5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000012.12:g.111889399G>A, NC_000012.11:g.112327203G>A

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