SNP Links for Gene (Select 51275) - 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 14910382802.

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 14891353083.

rs1489135308 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:111842176 (GRCh38)
12:112279980 (GRCh37)
Canonical SPDI:: NC_000012.12:111842175:G:A
Gene:: MAPKAPK5 (Varview), MAPKAPK5-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,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_000012.12:g.111842176G>A, NC_000012.11:g.112279980G>A, NR_015404.2:n.830C>T, NR_015404.1:n.727C>T, NM_016534.2:c.*170C>T

Select item 14884629134.

rs1488462913 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:111840140 (GRCh38)
12:112277944 (GRCh37)
Canonical SPDI:: NC_000012.12:111840139:T:A
Gene:: MAPKAPK5-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000012.12:g.111840140T>A, NC_000012.11:g.112277944T>A, NR_015404.2:n.2017A>T, NR_015404.1:n.1914A>T, NM_016534.2:c.*1357A>T, NR_152608.1:n.585A>T

Select item 14883820455.

rs1488382045 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 12:111841876 (GRCh38)
12:112279680 (GRCh37)
Canonical SPDI:: NC_000012.12:111841875:CC:C
Gene:: MAPKAPK5 (Varview), MAPKAPK5-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CC=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.111841877del, NC_000012.11:g.112279681del, NR_015404.2:n.1130del, NR_015404.1:n.1027del, NM_016534.2:c.*470del, NR_152606.1:n.55del, NR_152608.1:n.55del, NR_152605.1:n.55del, NR_152607.1:n.55del

Select item 14881963596.

rs1488196359 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:111839424 (GRCh38)
12:112277228 (GRCh37)
Canonical SPDI:: NC_000012.12:111839423:T:G
Gene:: MAPKAPK5-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000012.12:g.111839424T>G, NC_000012.11:g.112277228T>G

Select item 14873971107.

rs1487397110 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:111841372 (GRCh38)
12:112279176 (GRCh37)
Canonical SPDI:: NC_000012.12:111841371:T:A
Gene:: MAPKAPK5 (Varview), MAPKAPK5-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000023/6 (TOPMED)
HGVS:: NC_000012.12:g.111841372T>A, NC_000012.11:g.112279176T>A, NR_015404.2:n.1634A>T, NR_015404.1:n.1531A>T, NM_016534.2:c.*974A>T, NR_152606.1:n.559A>T, NR_152605.1:n.559A>T

Select item 14868101038.

rs1486810103 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:111843796 (GRCh38)
12:112281600 (GRCh37)
Canonical SPDI:: NC_000012.12:111843795:G:A,NC_000012.12:111843795:G:T
Gene:: MAPKAPK5 (Varview), MAPKAPK5-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.111843796G>A, NC_000012.12:g.111843796G>T, NC_000012.11:g.112281600G>A, NC_000012.11:g.112281600G>T

Select item 14867788529.

rs1486778852 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:111842863 (GRCh38)
12:112280667 (GRCh37)
Canonical SPDI:: NC_000012.12:111842862:T:C
Gene:: MAPKAPK5 (Varview), MAPKAPK5-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.111842863T>C, NC_000012.11:g.112280667T>C, NR_015404.2:n.143A>G, NR_015404.1:n.40A>G, NM_016534.2:c.-98A>G

Select item 148612240910.

rs1486122409 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:111844432 (GRCh38)
12:112282236 (GRCh37)
Canonical SPDI:: NC_000012.12:111844431:T:C
Gene:: MAPKAPK5 (Varview), MAPKAPK5-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000248/4 (TOMMO)
C=0.002396/7 (KOREAN)
HGVS:: NC_000012.12:g.111844432T>C, NC_000012.11:g.112282236T>C

Select item 148599694111.

rs1485996941 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:111841798 (GRCh38)
12:112279602 (GRCh37)
Canonical SPDI:: NC_000012.12:111841797:C:T
Gene:: MAPKAPK5 (Varview), MAPKAPK5-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.111841798C>T, NC_000012.11:g.112279602C>T, NR_015404.2:n.1208G>A, NR_015404.1:n.1105G>A, NM_016534.2:c.*548G>A, NR_152606.1:n.133G>A, NR_152608.1:n.133G>A, NR_152605.1:n.133G>A, NR_152607.1:n.133G>A

Select item 148594529812.

rs1485945298 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:111843785 (GRCh38)
12:112281589 (GRCh37)
Canonical SPDI:: NC_000012.12:111843784:A:G
Gene:: MAPKAPK5 (Varview), MAPKAPK5-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.111843785A>G, NC_000012.11:g.112281589A>G

Select item 148589899113.

rs1485898991 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:111842519 (GRCh38)
12:112280323 (GRCh37)
Canonical SPDI:: NC_000012.12:111842518:C:T
Gene:: MAPKAPK5 (Varview), MAPKAPK5-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000036/5 (GnomAD)
T=0.00006/16 (TOPMED)
T=0.001667/1 (NorthernSweden)
HGVS:: NC_000012.12:g.111842519C>T, NC_000012.11:g.112280323C>T, NM_003668.4:c.-215C>T, NM_003668.3:c.-215C>T, NM_139078.3:c.-215C>T, NM_139078.2:c.-215C>T, NR_015404.2:n.487G>A, NR_015404.1:n.384G>A, NM_016534.2:c.247G>A, NM_001371481.1:c.-215C>T, NM_001371482.1:c.-215C>T, NM_001371483.1:c.-215C>T, NM_001371484.1:c.-215C>T, NM_001371485.1:c.-215C>T, NM_001371486.1:c.-215C>T, NM_001371487.1:c.-215C>T, NM_001371480.1:c.-215C>T, NM_001371479.1:c.-215C>T

Select item 148514959314.

rs1485149593 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 12:111843517 (GRCh38)
12:112281321 (GRCh37)
Canonical SPDI:: NC_000012.12:111843516:T:A,NC_000012.12:111843516:T:C
Gene:: MAPKAPK5 (Varview), MAPKAPK5-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000023/6 (TOPMED)
A=0.000035/1 (TOMMO)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000012.12:g.111843517T>A, NC_000012.12:g.111843517T>C, NC_000012.11:g.112281321T>A, NC_000012.11:g.112281321T>C

Select item 148492512815.

rs1484925128 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAGGAG>- [Show Flanks]
Chromosome:: 12:111841717 (GRCh38)
12:112279521 (GRCh37)
Canonical SPDI:: NC_000012.12:111841715:GAAAGGAG:G
Gene:: MAPKAPK5 (Varview), MAPKAPK5-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: -=0./0 (GnomAD)
HGVS:: NC_000012.12:g.111841717_111841723del, NC_000012.11:g.112279521_112279527del, NR_015404.2:n.1284_1290del, NR_015404.1:n.1181_1187del, NM_016534.2:c.*624_*630del, NR_152606.1:n.209_215del, NR_152608.1:n.209_215del, NR_152605.1:n.209_215del, NR_152607.1:n.209_215del

Select item 148447675416.

rs1484476754 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:111839877 (GRCh38)
12:112277681 (GRCh37)
Canonical SPDI:: NC_000012.12:111839876:G:C
Gene:: MAPKAPK5-AS1 (Varview)
Functional Consequence:: non_coding_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_000012.12:g.111839877G>C, NC_000012.11:g.112277681G>C, NR_015404.2:n.2280C>G, NR_015404.1:n.2177C>G, NM_016534.2:c.*1620C>G, NR_152606.1:n.876C>G, NR_152608.1:n.848C>G, NR_152605.1:n.731C>G, NR_152607.1:n.519C>G

Select item 148349591117.

rs1483495911 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:111839288 (GRCh38)
12:112277092 (GRCh37)
Canonical SPDI:: NC_000012.12:111839287:A:G
Gene:: MAPKAPK5-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.111839288A>G, NC_000012.11:g.112277092A>G

Select item 148346850318.

rs1483468503 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:111841379 (GRCh38)
12:112279183 (GRCh37)
Canonical SPDI:: NC_000012.12:111841378:T:A
Gene:: MAPKAPK5 (Varview), MAPKAPK5-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_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_000012.12:g.111841379T>A, NC_000012.11:g.112279183T>A, NR_015404.2:n.1627A>T, NR_015404.1:n.1524A>T, NM_016534.2:c.*967A>T, NR_152606.1:n.552A>T, NR_152605.1:n.552A>T

Select item 148337920519.

rs1483379205 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:111844808 (GRCh38)
12:112282612 (GRCh37)
Canonical SPDI:: NC_000012.12:111844807:A:G
Gene:: MAPKAPK5 (Varview), MAPKAPK5-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.111844808A>G, NC_000012.11:g.112282612A>G

Select item 148285545520.

rs1482855455 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:111841486 (GRCh38)
12:112279290 (GRCh37)
Canonical SPDI:: NC_000012.12:111841485:T:C
Gene:: MAPKAPK5 (Varview), MAPKAPK5-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.111841486T>C, NC_000012.11:g.112279290T>C, NR_015404.2:n.1520A>G, NR_015404.1:n.1417A>G, NM_016534.2:c.*860A>G, NR_152606.1:n.445A>G, NR_152605.1:n.445A>G

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