MAPK1[GENE] - SNP

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Select item 18035451.

rs1803545 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 22:21772876 (GRCh38)
22:22127165 (GRCh37)
Canonical SPDI:: NC_000022.11:21772875:G:A,NC_000022.11:21772875:G:C
Gene:: MAPK1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000279/12 (ALFA)
A=0.000077/1 (GoESP)
A=0.000457/64 (GnomAD)
A=0.000812/215 (TOPMED)
A=0.001335/162 (ExAC)
A=0.001365/343 (GnomAD_exomes)
A=0.003279/16 (1000Genomes)
A=0.009772/6 (Vietnamese)
A=0.011811/12 (HapMap)
A=0.017467/32 (Korea1K)
A=0.018089/53 (KOREAN)
A=0.033513/562 (TOMMO)
G=0.5/2 (SGDP_PRJ)
HGVS:: NC_000022.11:g.21772876G>A, NC_000022.11:g.21772876G>C, NC_000022.10:g.22127165G>A, NC_000022.10:g.22127165G>C, NG_023054.2:g.99805C>T, NG_023054.2:g.99805C>G, NM_002745.5:c.963C>T, NM_002745.5:c.963C>G, NM_002745.4:c.963C>T, NM_002745.4:c.963C>G, NM_138957.3:c.963C>T, NM_138957.3:c.963C>G, NM_138957.2:c.963C>T, NM_138957.2:c.963C>G, NP_002736.3:p.Asp321Glu, NP_620407.1:p.Asp321Glu

PubMed

Select item 3753342892.

rs375334289 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:21788350 (GRCh38)
22:22142639 (GRCh37)
Canonical SPDI:: NC_000022.11:21788349:T:C
Gene:: MAPK1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: likely-pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000021/3 (GnomAD)
C=0.00003/8 (TOPMED)
C=0.000231/3 (GoESP)
HGVS:: NC_000022.11:g.21788350T>C, NC_000022.10:g.22142639T>C, NG_023054.2:g.84331A>G, NM_002745.5:c.763A>G, NM_002745.4:c.763A>G, NM_138957.3:c.763A>G, NM_138957.2:c.763A>G, NP_002736.3:p.Ile255Val, NP_620407.1:p.Ile255Val

Select item 7518805483.

rs751880548 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCCGCCGCC>-,GCC,GCCGCC,GCCGCCGCCGCC,GCCGCCGCCGCCGCC,GCCGCCGCCGCCGCCGCC [Show Flanks]
Chromosome:: 22:21867430 (GRCh38)
22:22221720 (GRCh37)
Canonical SPDI:: NC_000022.11:21867418:CCGCCGCCGCCGCCGCCGCC:CCGCCGCCGCC,NC_000022.11:21867418:CCGCCGCCGCCGCCGCCGCC:CCGCCGCCGCCGCC,NC_000022.11:21867418:CCGCCGCCGCCGCCGCCGCC:CCGCCGCCGCCGCCGCC,NC_000022.11:21867418:CCGCCGCCGCCGCCGCCGCC:CCGCCGCCGCCGCCGCCGCCGCC,NC_000022.11:21867418:CCGCCGCCGCCGCCGCCGCC:CCGCCGCCGCCGCCGCCGCCGCCGCC,NC_000022.11:21867418:CCGCCGCCGCCGCCGCCGCC:CCGCCGCCGCCGCCGCCGCCGCCGCCGCC
Gene:: MAPK1 (Varview)
Functional Consequence:: initiator_codon_variant,inframe_deletion,inframe_insertion
Clinical significance:: likely-benign,benign
Validated:: by frequency,by alfa,by cluster
MAF:: CCGCCGCCGCCGCCGCC=0./0 (ALFA)
-=0.00004/1 (TOMMO)
-=0.00171/3 (Korea1K)
CCG=0.025/15 (NorthernSweden)
CCG=0.02632/1 (GENOME_DK)
HGVS:: NC_000022.11:g.21867421GCC[3], NC_000022.11:g.21867421GCC[4], NC_000022.11:g.21867421GCC[5], NC_000022.11:g.21867421GCC[7], NC_000022.11:g.21867421GCC[8], NC_000022.11:g.21867421GCC[9], NC_000022.10:g.22221711GCC[3], NC_000022.10:g.22221711GCC[4], NC_000022.10:g.22221711GCC[5], NC_000022.10:g.22221711GCC[7], NC_000022.10:g.22221711GCC[8], NC_000022.10:g.22221711GCC[9], NG_023054.2:g.5245CGG[3], NG_023054.2:g.5245CGG[4], NG_023054.2:g.5245CGG[5], NG_023054.2:g.5245CGG[7], NG_023054.2:g.5245CGG[8], NG_023054.2:g.5245CGG[9], NM_002745.5:c.5CGG[3], NM_002745.5:c.5CGG[4], NM_002745.5:c.5CGG[5], NM_002745.5:c.5CGG[7], NM_002745.5:c.5CGG[8], NM_002745.5:c.5CGG[9], NM_002745.4:c.5CGG[3], NM_002745.4:c.5CGG[4], NM_002745.4:c.5CGG[5], NM_002745.4:c.5CGG[7], NM_002745.4:c.5CGG[8], NM_002745.4:c.5CGG[9], NM_138957.3:c.5CGG[3], NM_138957.3:c.5CGG[4], NM_138957.3:c.5CGG[5], NM_138957.3:c.5CGG[7], NM_138957.3:c.5CGG[8], NM_138957.3:c.5CGG[9], NM_138957.2:c.5CGG[3], NM_138957.2:c.5CGG[4], NM_138957.2:c.5CGG[5], NM_138957.2:c.5CGG[7], NM_138957.2:c.5CGG[8], NM_138957.2:c.5CGG[9], NP_002736.3:p.Ala5_Ala7del, NP_002736.3:p.Ala6_Ala7del, NP_002736.3:p.Ala7del, NP_002736.3:p.Ala7dup, NP_002736.3:p.Ala6_Ala7dup, NP_002736.3:p.Ala5_Ala7dup, NP_620407.1:p.Ala5_Ala7del, NP_620407.1:p.Ala6_Ala7del, NP_620407.1:p.Ala7del, NP_620407.1:p.Ala7dup, NP_620407.1:p.Ala6_Ala7dup, NP_620407.1:p.Ala5_Ala7dup

Select item 7970448924.

rs797044892 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:21805938 (GRCh38)
22:22160227 (GRCh37)
Canonical SPDI:: NC_000022.11:21805937:C:G
Gene:: MAPK1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: pathogenic
Validated:: by cluster
HGVS:: NC_000022.11:g.21805938C>G, NC_000022.10:g.22160227C>G, NG_023054.2:g.66743G>C, NM_002745.5:c.404G>C, NM_002745.4:c.404G>C, NM_138957.3:c.404G>C, NM_138957.2:c.404G>C, NP_002736.3:p.Arg135Thr, NP_620407.1:p.Arg135Thr

Select item 10575199115.

rs1057519911 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 22:21772875 (GRCh38)
22:22127164 (GRCh37)
Canonical SPDI:: NC_000022.11:21772874:C:A,NC_000022.11:21772874:C:G,NC_000022.11:21772874:C:T
Gene:: MAPK1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,missense_variant
Clinical significance:: pathogenic,likely-pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000022.11:g.21772875C>A, NC_000022.11:g.21772875C>G, NC_000022.11:g.21772875C>T, NC_000022.10:g.22127164C>A, NC_000022.10:g.22127164C>G, NC_000022.10:g.22127164C>T, NG_023054.2:g.99806G>T, NG_023054.2:g.99806G>C, NG_023054.2:g.99806G>A, NM_002745.5:c.964G>T, NM_002745.5:c.964G>C, NM_002745.5:c.964G>A, NM_002745.4:c.964G>T, NM_002745.4:c.964G>C, NM_002745.4:c.964G>A, NM_138957.3:c.964G>T, NM_138957.3:c.964G>C, NM_138957.3:c.964G>A, NM_138957.2:c.964G>T, NM_138957.2:c.964G>C, NM_138957.2:c.964G>A, NP_002736.3:p.Glu322Ter, NP_002736.3:p.Glu322Gln, NP_002736.3:p.Glu322Lys, NP_620407.1:p.Glu322Ter, NP_620407.1:p.Glu322Gln, NP_620407.1:p.Glu322Lys

Select item 20686784556.

rs2068678455 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:21769319 (GRCh38)
22:22123608 (GRCh37)
Canonical SPDI:: NC_000022.11:21769318:G:C
Gene:: MAPK1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: pathogenic
HGVS:: NC_000022.11:g.21769319G>C, NC_000022.10:g.22123608G>C, NG_023054.2:g.103362C>G, NM_002745.5:c.968C>G, NM_002745.4:c.968C>G, NM_138957.3:c.968C>G, NM_138957.2:c.968C>G, NP_002736.3:p.Pro323Arg, NP_620407.1:p.Pro323Arg

Select item 20687169077.

rs2068716907 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 22:21772886 (GRCh38)
22:22127175 (GRCh37)
Canonical SPDI:: NC_000022.11:21772885:T:A,NC_000022.11:21772885:T:C,NC_000022.11:21772885:T:G
Gene:: MAPK1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: pathogenic
HGVS:: NC_000022.11:g.21772886T>A, NC_000022.11:g.21772886T>C, NC_000022.11:g.21772886T>G, NC_000022.10:g.22127175T>A, NC_000022.10:g.22127175T>C, NC_000022.10:g.22127175T>G, NG_023054.2:g.99795A>T, NG_023054.2:g.99795A>G, NG_023054.2:g.99795A>C, NM_002745.5:c.953A>T, NM_002745.5:c.953A>G, NM_002745.5:c.953A>C, NM_002745.4:c.953A>T, NM_002745.4:c.953A>G, NM_002745.4:c.953A>C, NM_138957.3:c.953A>T, NM_138957.3:c.953A>G, NM_138957.3:c.953A>C, NM_138957.2:c.953A>T, NM_138957.2:c.953A>G, NM_138957.2:c.953A>C, NP_002736.3:p.Asp318Val, NP_002736.3:p.Asp318Gly, NP_002736.3:p.Asp318Ala, NP_620407.1:p.Asp318Val, NP_620407.1:p.Asp318Gly, NP_620407.1:p.Asp318Ala

Select item 20687169408.

rs2068716940 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 22:21772887 (GRCh38)
22:22127176 (GRCh37)
Canonical SPDI:: NC_000022.11:21772886:C:A,NC_000022.11:21772886:C:G,NC_000022.11:21772886:C:T
Gene:: MAPK1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.21772887C>A, NC_000022.11:g.21772887C>G, NC_000022.11:g.21772887C>T, NC_000022.10:g.22127176C>A, NC_000022.10:g.22127176C>G, NC_000022.10:g.22127176C>T, NG_023054.2:g.99794G>T, NG_023054.2:g.99794G>C, NG_023054.2:g.99794G>A, NM_002745.5:c.952G>T, NM_002745.5:c.952G>C, NM_002745.5:c.952G>A, NM_002745.4:c.952G>T, NM_002745.4:c.952G>C, NM_002745.4:c.952G>A, NM_138957.3:c.952G>T, NM_138957.3:c.952G>C, NM_138957.3:c.952G>A, NM_138957.2:c.952G>T, NM_138957.2:c.952G>C, NM_138957.2:c.952G>A, NP_002736.3:p.Asp318Tyr, NP_002736.3:p.Asp318His, NP_002736.3:p.Asp318Asn, NP_620407.1:p.Asp318Tyr, NP_620407.1:p.Asp318His, NP_620407.1:p.Asp318Asn

Select item 20687174369.

rs2068717436 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 22:21772925 (GRCh38)
22:22127214 (GRCh37)
Canonical SPDI:: NC_000022.11:21772924:T:A,NC_000022.11:21772924:T:C
Gene:: MAPK1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.21772925T>A, NC_000022.11:g.21772925T>C, NC_000022.10:g.22127214T>A, NC_000022.10:g.22127214T>C, NG_023054.2:g.99756A>T, NG_023054.2:g.99756A>G, NM_002745.5:c.914A>T, NM_002745.5:c.914A>G, NM_002745.4:c.914A>T, NM_002745.4:c.914A>G, NM_138957.3:c.914A>T, NM_138957.3:c.914A>G, NM_138957.2:c.914A>T, NM_138957.2:c.914A>G, NP_002736.3:p.Glu305Val, NP_002736.3:p.Glu305Gly, NP_620407.1:p.Glu305Val, NP_620407.1:p.Glu305Gly

Select item 206905201210.

rs2069052012 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:21799100 (GRCh38)
22:22153389 (GRCh37)
Canonical SPDI:: NC_000022.11:21799099:G:A
Gene:: MAPK1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: pathogenic
HGVS:: NC_000022.11:g.21799100G>A, NC_000022.10:g.22153389G>A, NG_023054.2:g.73581C>T, NM_002745.5:c.521C>T, NM_002745.4:c.521C>T, NM_138957.3:c.521C>T, NM_138957.2:c.521C>T, NP_002736.3:p.Ala174Val, NP_620407.1:p.Ala174Val

Select item 206915400511.

rs2069154005 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:21807728 (GRCh38)
22:22162017 (GRCh37)
Canonical SPDI:: NC_000022.11:21807727:G:A
Gene:: MAPK1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: pathogenic
HGVS:: NC_000022.11:g.21807728G>A, NC_000022.10:g.22162017G>A, NG_023054.2:g.64953C>T, NM_002745.5:c.238C>T, NM_002745.4:c.238C>T, NM_138957.3:c.238C>T, NM_138957.2:c.238C>T, NP_002736.3:p.His80Tyr, NP_620407.1:p.His80Tyr

Select item 206915412112.

rs2069154121 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 22:21807745 (GRCh38)
22:22162034 (GRCh37)
Canonical SPDI:: NC_000022.11:21807744:A:T
Gene:: MAPK1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: pathogenic
HGVS:: NC_000022.11:g.21807745A>T, NC_000022.10:g.22162034A>T, NG_023054.2:g.64936T>A, NM_002745.5:c.221T>A, NM_002745.4:c.221T>A, NM_138957.3:c.221T>A, NM_138957.2:c.221T>A, NP_002736.3:p.Ile74Asn, NP_620407.1:p.Ile74Asn

Select item 214570571213.

rs2145705712 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 22:21807811 (GRCh38)
22:22162100 (GRCh37)
Canonical SPDI:: NC_000022.11:21807810:G:T
Gene:: MAPK1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
HGVS:: NC_000022.11:g.21807811G>T, NC_000022.10:g.22162100G>T, NG_023054.2:g.64870C>A, NM_002745.5:c.155C>A, NM_002745.4:c.155C>A, NM_138957.3:c.155C>A, NM_138957.2:c.155C>A, NP_002736.3:p.Ala52Asp, NP_620407.1:p.Ala52Asp

Select item 214863383914.

rs2148633839 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 22:21772880 (GRCh38)
22:22127169 (GRCh37)
Canonical SPDI:: NC_000022.11:21772879:C:A,NC_000022.11:21772879:C:G,NC_000022.11:21772879:C:T
Gene:: MAPK1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
HGVS:: NC_000022.11:g.21772880C>A, NC_000022.11:g.21772880C>G, NC_000022.11:g.21772880C>T, NC_000022.10:g.22127169C>A, NC_000022.10:g.22127169C>G, NC_000022.10:g.22127169C>T, NG_023054.2:g.99801G>T, NG_023054.2:g.99801G>C, NG_023054.2:g.99801G>A, NM_002745.5:c.959G>T, NM_002745.5:c.959G>C, NM_002745.5:c.959G>A, NM_002745.4:c.959G>T, NM_002745.4:c.959G>C, NM_002745.4:c.959G>A, NM_138957.3:c.959G>T, NM_138957.3:c.959G>C, NM_138957.3:c.959G>A, NM_138957.2:c.959G>T, NM_138957.2:c.959G>C, NM_138957.2:c.959G>A, NP_002736.3:p.Ser320Ile, NP_002736.3:p.Ser320Thr, NP_002736.3:p.Ser320Asn, NP_620407.1:p.Ser320Ile, NP_620407.1:p.Ser320Thr, NP_620407.1:p.Ser320Asn

Select item 5981067515.

rs59810675 has merged into rs1803545 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 22:21772876 (GRCh38)
22:22127165 (GRCh37)
Canonical SPDI:: NC_000022.11:21772875:G:A,NC_000022.11:21772875:G:C
Gene:: MAPK1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000279/12 (ALFA)
A=0.000077/1 (GoESP)
A=0.000457/64 (GnomAD)
A=0.000812/215 (TOPMED)
A=0.001335/162 (ExAC)
A=0.001365/343 (GnomAD_exomes)
A=0.003279/16 (1000Genomes)
A=0.009772/6 (Vietnamese)
A=0.011811/12 (HapMap)
A=0.017467/32 (Korea1K)
A=0.018089/53 (KOREAN)
A=0.033513/562 (TOMMO)
G=0.5/2 (SGDP_PRJ)
HGVS:: NC_000022.11:g.21772876G>A, NC_000022.11:g.21772876G>C, NC_000022.10:g.22127165G>A, NC_000022.10:g.22127165G>C, NG_023054.2:g.99805C>T, NG_023054.2:g.99805C>G, NM_002745.5:c.963C>T, NM_002745.5:c.963C>G, NM_002745.4:c.963C>T, NM_002745.4:c.963C>G, NM_138957.3:c.963C>T, NM_138957.3:c.963C>G, NM_138957.2:c.963C>T, NM_138957.2:c.963C>G, NP_002736.3:p.Asp321Glu, NP_620407.1:p.Asp321Glu

Select item 227600916.

rs2276009 has merged into rs1803545 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 22:21772876 (GRCh38)
22:22127165 (GRCh37)
Canonical SPDI:: NC_000022.11:21772875:G:A,NC_000022.11:21772875:G:C
Gene:: MAPK1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000279/12 (ALFA)
A=0.000077/1 (GoESP)
A=0.000457/64 (GnomAD)
A=0.000812/215 (TOPMED)
A=0.001335/162 (ExAC)
A=0.001365/343 (GnomAD_exomes)
A=0.003279/16 (1000Genomes)
A=0.009772/6 (Vietnamese)
A=0.011811/12 (HapMap)
A=0.017467/32 (Korea1K)
A=0.018089/53 (KOREAN)
A=0.033513/562 (TOMMO)
G=0.5/2 (SGDP_PRJ)
HGVS:: NC_000022.11:g.21772876G>A, NC_000022.11:g.21772876G>C, NC_000022.10:g.22127165G>A, NC_000022.10:g.22127165G>C, NG_023054.2:g.99805C>T, NG_023054.2:g.99805C>G, NM_002745.5:c.963C>T, NM_002745.5:c.963C>G, NM_002745.4:c.963C>T, NM_002745.4:c.963C>G, NM_138957.3:c.963C>T, NM_138957.3:c.963C>G, NM_138957.2:c.963C>T, NM_138957.2:c.963C>G, NP_002736.3:p.Asp321Glu, NP_620407.1:p.Asp321Glu

Select item 126558275317.

rs1265582753 has merged into rs751880548 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCCGCCGCC>-,GCC,GCCGCC,GCCGCCGCCGCC,GCCGCCGCCGCCGCC,GCCGCCGCCGCCGCCGCC [Show Flanks]
Chromosome:: 22:21867430 (GRCh38)
22:22221720 (GRCh37)
Canonical SPDI:: NC_000022.11:21867418:CCGCCGCCGCCGCCGCCGCC:CCGCCGCCGCC,NC_000022.11:21867418:CCGCCGCCGCCGCCGCCGCC:CCGCCGCCGCCGCC,NC_000022.11:21867418:CCGCCGCCGCCGCCGCCGCC:CCGCCGCCGCCGCCGCC,NC_000022.11:21867418:CCGCCGCCGCCGCCGCCGCC:CCGCCGCCGCCGCCGCCGCCGCC,NC_000022.11:21867418:CCGCCGCCGCCGCCGCCGCC:CCGCCGCCGCCGCCGCCGCCGCCGCC,NC_000022.11:21867418:CCGCCGCCGCCGCCGCCGCC:CCGCCGCCGCCGCCGCCGCCGCCGCCGCC
Gene:: MAPK1 (Varview)
Functional Consequence:: initiator_codon_variant,inframe_deletion,inframe_insertion
Clinical significance:: likely-benign,benign
Validated:: by frequency,by alfa,by cluster
MAF:: CCGCCGCCGCCGCCGCC=0./0 (ALFA)
-=0.00004/1 (TOMMO)
-=0.00171/3 (Korea1K)
CCG=0.025/15 (NorthernSweden)
CCG=0.02632/1 (GENOME_DK)
HGVS:: NC_000022.11:g.21867421GCC[3], NC_000022.11:g.21867421GCC[4], NC_000022.11:g.21867421GCC[5], NC_000022.11:g.21867421GCC[7], NC_000022.11:g.21867421GCC[8], NC_000022.11:g.21867421GCC[9], NC_000022.10:g.22221711GCC[3], NC_000022.10:g.22221711GCC[4], NC_000022.10:g.22221711GCC[5], NC_000022.10:g.22221711GCC[7], NC_000022.10:g.22221711GCC[8], NC_000022.10:g.22221711GCC[9], NG_023054.2:g.5245CGG[3], NG_023054.2:g.5245CGG[4], NG_023054.2:g.5245CGG[5], NG_023054.2:g.5245CGG[7], NG_023054.2:g.5245CGG[8], NG_023054.2:g.5245CGG[9], NM_002745.5:c.5CGG[3], NM_002745.5:c.5CGG[4], NM_002745.5:c.5CGG[5], NM_002745.5:c.5CGG[7], NM_002745.5:c.5CGG[8], NM_002745.5:c.5CGG[9], NM_002745.4:c.5CGG[3], NM_002745.4:c.5CGG[4], NM_002745.4:c.5CGG[5], NM_002745.4:c.5CGG[7], NM_002745.4:c.5CGG[8], NM_002745.4:c.5CGG[9], NM_138957.3:c.5CGG[3], NM_138957.3:c.5CGG[4], NM_138957.3:c.5CGG[5], NM_138957.3:c.5CGG[7], NM_138957.3:c.5CGG[8], NM_138957.3:c.5CGG[9], NM_138957.2:c.5CGG[3], NM_138957.2:c.5CGG[4], NM_138957.2:c.5CGG[5], NM_138957.2:c.5CGG[7], NM_138957.2:c.5CGG[8], NM_138957.2:c.5CGG[9], NP_002736.3:p.Ala5_Ala7del, NP_002736.3:p.Ala6_Ala7del, NP_002736.3:p.Ala7del, NP_002736.3:p.Ala7dup, NP_002736.3:p.Ala6_Ala7dup, NP_002736.3:p.Ala5_Ala7dup, NP_620407.1:p.Ala5_Ala7del, NP_620407.1:p.Ala6_Ala7del, NP_620407.1:p.Ala7del, NP_620407.1:p.Ala7dup, NP_620407.1:p.Ala6_Ala7dup, NP_620407.1:p.Ala5_Ala7dup

Select item 88894634718.

rs888946347 has merged into rs751880548 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCCGCCGCC>-,GCC,GCCGCC,GCCGCCGCCGCC,GCCGCCGCCGCCGCC,GCCGCCGCCGCCGCCGCC [Show Flanks]
Chromosome:: 22:21867430 (GRCh38)
22:22221720 (GRCh37)
Canonical SPDI:: NC_000022.11:21867418:CCGCCGCCGCCGCCGCCGCC:CCGCCGCCGCC,NC_000022.11:21867418:CCGCCGCCGCCGCCGCCGCC:CCGCCGCCGCCGCC,NC_000022.11:21867418:CCGCCGCCGCCGCCGCCGCC:CCGCCGCCGCCGCCGCC,NC_000022.11:21867418:CCGCCGCCGCCGCCGCCGCC:CCGCCGCCGCCGCCGCCGCCGCC,NC_000022.11:21867418:CCGCCGCCGCCGCCGCCGCC:CCGCCGCCGCCGCCGCCGCCGCCGCC,NC_000022.11:21867418:CCGCCGCCGCCGCCGCCGCC:CCGCCGCCGCCGCCGCCGCCGCCGCCGCC
Gene:: MAPK1 (Varview)
Functional Consequence:: initiator_codon_variant,inframe_deletion,inframe_insertion
Clinical significance:: likely-benign,benign
Validated:: by frequency,by alfa,by cluster
MAF:: CCGCCGCCGCCGCCGCC=0./0 (ALFA)
-=0.00004/1 (TOMMO)
-=0.00171/3 (Korea1K)
CCG=0.025/15 (NorthernSweden)
CCG=0.02632/1 (GENOME_DK)
HGVS:: NC_000022.11:g.21867421GCC[3], NC_000022.11:g.21867421GCC[4], NC_000022.11:g.21867421GCC[5], NC_000022.11:g.21867421GCC[7], NC_000022.11:g.21867421GCC[8], NC_000022.11:g.21867421GCC[9], NC_000022.10:g.22221711GCC[3], NC_000022.10:g.22221711GCC[4], NC_000022.10:g.22221711GCC[5], NC_000022.10:g.22221711GCC[7], NC_000022.10:g.22221711GCC[8], NC_000022.10:g.22221711GCC[9], NG_023054.2:g.5245CGG[3], NG_023054.2:g.5245CGG[4], NG_023054.2:g.5245CGG[5], NG_023054.2:g.5245CGG[7], NG_023054.2:g.5245CGG[8], NG_023054.2:g.5245CGG[9], NM_002745.5:c.5CGG[3], NM_002745.5:c.5CGG[4], NM_002745.5:c.5CGG[5], NM_002745.5:c.5CGG[7], NM_002745.5:c.5CGG[8], NM_002745.5:c.5CGG[9], NM_002745.4:c.5CGG[3], NM_002745.4:c.5CGG[4], NM_002745.4:c.5CGG[5], NM_002745.4:c.5CGG[7], NM_002745.4:c.5CGG[8], NM_002745.4:c.5CGG[9], NM_138957.3:c.5CGG[3], NM_138957.3:c.5CGG[4], NM_138957.3:c.5CGG[5], NM_138957.3:c.5CGG[7], NM_138957.3:c.5CGG[8], NM_138957.3:c.5CGG[9], NM_138957.2:c.5CGG[3], NM_138957.2:c.5CGG[4], NM_138957.2:c.5CGG[5], NM_138957.2:c.5CGG[7], NM_138957.2:c.5CGG[8], NM_138957.2:c.5CGG[9], NP_002736.3:p.Ala5_Ala7del, NP_002736.3:p.Ala6_Ala7del, NP_002736.3:p.Ala7del, NP_002736.3:p.Ala7dup, NP_002736.3:p.Ala6_Ala7dup, NP_002736.3:p.Ala5_Ala7dup, NP_620407.1:p.Ala5_Ala7del, NP_620407.1:p.Ala6_Ala7del, NP_620407.1:p.Ala7del, NP_620407.1:p.Ala7dup, NP_620407.1:p.Ala6_Ala7dup, NP_620407.1:p.Ala5_Ala7dup

Select item 77050677119.

rs770506771 has merged into rs751880548 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCCGCCGCC>-,GCC,GCCGCC,GCCGCCGCCGCC,GCCGCCGCCGCCGCC,GCCGCCGCCGCCGCCGCC [Show Flanks]
Chromosome:: 22:21867430 (GRCh38)
22:22221720 (GRCh37)
Canonical SPDI:: NC_000022.11:21867418:CCGCCGCCGCCGCCGCCGCC:CCGCCGCCGCC,NC_000022.11:21867418:CCGCCGCCGCCGCCGCCGCC:CCGCCGCCGCCGCC,NC_000022.11:21867418:CCGCCGCCGCCGCCGCCGCC:CCGCCGCCGCCGCCGCC,NC_000022.11:21867418:CCGCCGCCGCCGCCGCCGCC:CCGCCGCCGCCGCCGCCGCCGCC,NC_000022.11:21867418:CCGCCGCCGCCGCCGCCGCC:CCGCCGCCGCCGCCGCCGCCGCCGCC,NC_000022.11:21867418:CCGCCGCCGCCGCCGCCGCC:CCGCCGCCGCCGCCGCCGCCGCCGCCGCC
Gene:: MAPK1 (Varview)
Functional Consequence:: initiator_codon_variant,inframe_deletion,inframe_insertion
Clinical significance:: likely-benign,benign
Validated:: by frequency,by alfa,by cluster
MAF:: CCGCCGCCGCCGCCGCC=0./0 (ALFA)
-=0.00004/1 (TOMMO)
-=0.00171/3 (Korea1K)
CCG=0.025/15 (NorthernSweden)
CCG=0.02632/1 (GENOME_DK)
HGVS:: NC_000022.11:g.21867421GCC[3], NC_000022.11:g.21867421GCC[4], NC_000022.11:g.21867421GCC[5], NC_000022.11:g.21867421GCC[7], NC_000022.11:g.21867421GCC[8], NC_000022.11:g.21867421GCC[9], NC_000022.10:g.22221711GCC[3], NC_000022.10:g.22221711GCC[4], NC_000022.10:g.22221711GCC[5], NC_000022.10:g.22221711GCC[7], NC_000022.10:g.22221711GCC[8], NC_000022.10:g.22221711GCC[9], NG_023054.2:g.5245CGG[3], NG_023054.2:g.5245CGG[4], NG_023054.2:g.5245CGG[5], NG_023054.2:g.5245CGG[7], NG_023054.2:g.5245CGG[8], NG_023054.2:g.5245CGG[9], NM_002745.5:c.5CGG[3], NM_002745.5:c.5CGG[4], NM_002745.5:c.5CGG[5], NM_002745.5:c.5CGG[7], NM_002745.5:c.5CGG[8], NM_002745.5:c.5CGG[9], NM_002745.4:c.5CGG[3], NM_002745.4:c.5CGG[4], NM_002745.4:c.5CGG[5], NM_002745.4:c.5CGG[7], NM_002745.4:c.5CGG[8], NM_002745.4:c.5CGG[9], NM_138957.3:c.5CGG[3], NM_138957.3:c.5CGG[4], NM_138957.3:c.5CGG[5], NM_138957.3:c.5CGG[7], NM_138957.3:c.5CGG[8], NM_138957.3:c.5CGG[9], NM_138957.2:c.5CGG[3], NM_138957.2:c.5CGG[4], NM_138957.2:c.5CGG[5], NM_138957.2:c.5CGG[7], NM_138957.2:c.5CGG[8], NM_138957.2:c.5CGG[9], NP_002736.3:p.Ala5_Ala7del, NP_002736.3:p.Ala6_Ala7del, NP_002736.3:p.Ala7del, NP_002736.3:p.Ala7dup, NP_002736.3:p.Ala6_Ala7dup, NP_002736.3:p.Ala5_Ala7dup, NP_620407.1:p.Ala5_Ala7del, NP_620407.1:p.Ala6_Ala7del, NP_620407.1:p.Ala7del, NP_620407.1:p.Ala7dup, NP_620407.1:p.Ala6_Ala7dup, NP_620407.1:p.Ala5_Ala7dup

Select item 692820.

rs6928 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 22:21760715 (GRCh38)
22:22115004 (GRCh37)
Canonical SPDI:: NC_000022.11:21760714:C:A,NC_000022.11:21760714:C:G
Gene:: MAPK1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.498729/9420 (ALFA)
C=0.35/147 (SGDP_PRJ)
G=0.371935/273 (PRJEB37584)
G=0.375/15 (GENOME_DK)
G=0.393857/1154 (KOREAN)
C=0.412037/89 (Qatari)
G=0.416485/763 (Korea1K)
G=0.435/261 (NorthernSweden)
G=0.439097/7359 (TOMMO)
C=0.444444/16 (Siberian)
G=0.462264/98 (Vietnamese)
G=0.472756/2117 (Estonian)
C=0.482356/1859 (ALSPAC)
C=0.484628/1797 (TWINSUK)
G=0.488757/2448 (1000Genomes)
G=0.490311/68619 (GnomAD)
C=0.493988/493 (GoNL)
G=0.49451/38915 (PAGE_STUDY)
C=0.494548/130902 (TOPMED)
G=0.494715/936 (HapMap)
HGVS:: NC_000022.11:g.21760715C>A, NC_000022.11:g.21760715C>G, NC_000022.10:g.22115004C>A, NC_000022.10:g.22115004C>G, NG_023054.2:g.111966G>T, NG_023054.2:g.111966G>C, NM_002745.5:c.*3535G>T, NM_002745.5:c.*3535G>C, NM_002745.4:c.*3535G>T, NM_002745.4:c.*3535G>C

PubMed

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