SNP Links for Gene (Select 4615) - SNP

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Select item 14907199021.

rs1490719902 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:38137894 (GRCh38)
3:38179385 (GRCh37)
Canonical SPDI:: NC_000003.12:38137893:T:A
Gene:: ACAA1 (Varview), MYD88 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000003.12:g.38137894T>A, NC_000003.11:g.38179385T>A, NG_023225.1:g.4349A>T, NG_016964.1:g.4417T>A

Select item 14902364462.

rs1490236446 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:38140413 (GRCh38)
3:38181904 (GRCh37)
Canonical SPDI:: NC_000003.12:38140412:C:T
Gene:: MYD88 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.38140413C>T, NC_000003.11:g.38181904C>T, NG_023225.1:g.1830G>A, NG_016964.1:g.6936C>T, NM_002468.5:c.489C>T, NM_002468.4:c.528C>T, NM_001172567.2:c.489C>T, NM_001172567.1:c.528C>T, NM_001172568.2:c.354C>T, NM_001172568.1:c.393C>T, NM_001365876.1:c.489C>T, NM_001374787.1:c.489C>T, NM_001365877.1:c.354C>T, NM_001374788.1:c.21C>T, NR_164663.1:n.191C>T

Select item 14902222973.

rs1490222297 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:38136564 (GRCh38)
3:38178055 (GRCh37)
Canonical SPDI:: NC_000003.12:38136563:C:T
Gene:: ACAA1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.38136564C>T, NC_000003.11:g.38178055C>T, NG_023225.1:g.5679G>A, NG_016964.1:g.3087C>T

Select item 14896881404.

rs1489688140 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:38138863 (GRCh38)
3:38180354 (GRCh37)
Canonical SPDI:: NC_000003.12:38138862:G:A
Gene:: ACAA1 (Varview), MYD88 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.38138863G>A, NC_000003.11:g.38180354G>A, NG_023225.1:g.3380C>T, NG_016964.1:g.5386G>A, NM_002468.5:c.163G>A, NM_002468.4:c.202G>A, NM_001172569.3:c.163G>A, NM_001172569.2:c.163G>A, NM_001172569.1:c.202G>A, NM_001172567.2:c.163G>A, NM_001172567.1:c.202G>A, NM_001172568.2:c.163G>A, NM_001172568.1:c.202G>A, NM_001172566.2:c.163G>A, NM_001172566.1:c.202G>A, NM_001365876.1:c.163G>A, NM_001374787.1:c.163G>A, NM_001365877.1:c.163G>A, NP_002459.3:p.Asp55Asn, NP_001166040.2:p.Asp55Asn, NP_001166038.2:p.Asp55Asn, NP_001166039.2:p.Asp55Asn, NP_001166037.2:p.Asp55Asn, NP_001352805.1:p.Asp55Asn, NP_001361716.1:p.Asp55Asn, NP_001352806.1:p.Asp55Asn

Select item 14890218195.

rs1489021819 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:38137392 (GRCh38)
3:38178883 (GRCh37)
Canonical SPDI:: NC_000003.12:38137391:C:T
Gene:: ACAA1 (Varview), MYD88 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.38137392C>T, NC_000003.11:g.38178883C>T, NG_023225.1:g.4851G>A, NG_016964.1:g.3915C>T

Select item 14880905496.

rs1488090549 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:38140563 (GRCh38)
3:38182054 (GRCh37)
Canonical SPDI:: NC_000003.12:38140562:A:G
Gene:: MYD88 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000026/7 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000003.12:g.38140563A>G, NC_000003.11:g.38182054A>G, NG_023225.1:g.1680T>C, NG_016964.1:g.7086A>G, NM_002468.5:c.639A>G, NM_002468.4:c.678A>G, NM_001172567.2:c.639A>G, NM_001172567.1:c.678A>G, NM_001172568.2:c.504A>G, NM_001172568.1:c.543A>G, NM_001374787.1:c.639A>G, NM_001374788.1:c.171A>G

Select item 14863543597.

rs1486354359 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:38142909 (GRCh38)
3:38184400 (GRCh37)
Canonical SPDI:: NC_000003.12:38142908:T:C
Gene:: MYD88 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000003.12:g.38142909T>C, NC_000003.11:g.38184400T>C, NG_016964.1:g.9432T>C, NM_002468.5:c.*1623T>C, NM_002468.4:c.*1623T>C, NM_001172569.3:c.*1757T>C, NM_001172569.2:c.*1757T>C, NM_001172569.1:c.*1757T>C, NM_001172567.2:c.*1623T>C, NM_001172567.1:c.*1623T>C, NM_001172568.2:c.*1623T>C, NM_001172568.1:c.*1623T>C, NM_001172566.2:c.*1757T>C, NM_001172566.1:c.*1757T>C, NM_001365876.1:c.*1757T>C, NM_001374787.1:c.*1757T>C, NM_001365877.1:c.*1757T>C, NM_001374788.1:c.*1623T>C, NR_164663.1:n.2197T>C

Select item 14858939188.

rs1485893918 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:38138090 (GRCh38)
3:38179581 (GRCh37)
Canonical SPDI:: NC_000003.12:38138089:T:G
Gene:: ACAA1 (Varview), MYD88 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.38138090T>G, NC_000003.11:g.38179581T>G, NG_023225.1:g.4153A>C, NG_016964.1:g.4613T>G

Select item 14858400039.

rs1485840003 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:38136856 (GRCh38)
3:38178347 (GRCh37)
Canonical SPDI:: NC_000003.12:38136855:G:C
Gene:: ACAA1 (Varview), MYD88 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000017/2 (GnomAD_exomes)
C=0.000019/5 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000003.12:g.38136856G>C, NC_000003.11:g.38178347G>C, NG_023225.1:g.5387C>G, NG_016964.1:g.3379G>C

Select item 148507708010.

rs1485077080 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:38142590 (GRCh38)
3:38184081 (GRCh37)
Canonical SPDI:: NC_000003.12:38142589:A:G
Gene:: MYD88 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000156/1 (1000Genomes)
HGVS:: NC_000003.12:g.38142590A>G, NC_000003.11:g.38184081A>G, NG_016964.1:g.9113A>G, NM_002468.5:c.*1304A>G, NM_002468.4:c.*1304A>G, NM_001172569.3:c.*1438A>G, NM_001172569.2:c.*1438A>G, NM_001172569.1:c.*1438A>G, NM_001172567.2:c.*1304A>G, NM_001172567.1:c.*1304A>G, NM_001172568.2:c.*1304A>G, NM_001172568.1:c.*1304A>G, NM_001172566.2:c.*1438A>G, NM_001172566.1:c.*1438A>G, NM_001365876.1:c.*1438A>G, NM_001374787.1:c.*1438A>G, NM_001365877.1:c.*1438A>G, NM_001374788.1:c.*1304A>G, NR_164663.1:n.1878A>G

Select item 148481947311.

rs1484819473 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:38139417 (GRCh38)
3:38180908 (GRCh37)
Canonical SPDI:: NC_000003.12:38139416:G:A,NC_000003.12:38139416:G:T
Gene:: MYD88 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.38139417G>A, NC_000003.12:g.38139417G>T, NC_000003.11:g.38180908G>A, NC_000003.11:g.38180908G>T, NG_023225.1:g.2826C>T, NG_023225.1:g.2826C>A, NG_016964.1:g.5940G>A, NG_016964.1:g.5940G>T

Select item 148469917312.

rs1484699173 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:38143049 (GRCh38)
3:38184540 (GRCh37)
Canonical SPDI:: NC_000003.12:38143048:T:C
Gene:: MYD88 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.38143049T>C, NC_000003.11:g.38184540T>C, NG_016964.1:g.9572T>C

Select item 148424285113.

rs1484242851 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 3:38137885 (GRCh38)
3:38179376 (GRCh37)
Canonical SPDI:: NC_000003.12:38137883:AGA:A
Gene:: ACAA1 (Varview), MYD88 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.38137885_38137886del, NC_000003.11:g.38179376_38179377del, NG_023225.1:g.4358_4359del, NG_016964.1:g.4408_4409del

Select item 148376113614.

rs1483761136 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:38137702 (GRCh38)
3:38179193 (GRCh37)
Canonical SPDI:: NC_000003.12:38137701:T:A
Gene:: ACAA1 (Varview), MYD88 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.38137702T>A, NC_000003.11:g.38179193T>A, NG_023225.1:g.4541A>T, NG_016964.1:g.4225T>A

Select item 148337348015.

rs1483373480 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:38140865 (GRCh38)
3:38182356 (GRCh37)
Canonical SPDI:: NC_000003.12:38140864:T:C
Gene:: MYD88 (Varview)
Functional Consequence:: intron_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_000003.12:g.38140865T>C, NC_000003.11:g.38182356T>C, NG_023225.1:g.1378A>G, NG_016964.1:g.7388T>C

Select item 148315161516.

rs1483151615 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:38140301 (GRCh38)
3:38181792 (GRCh37)
Canonical SPDI:: NC_000003.12:38140300:G:C
Gene:: MYD88 (Varview)
Functional Consequence:: intron_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_000003.12:g.38140301G>C, NC_000003.11:g.38181792G>C, NG_023225.1:g.1942C>G, NG_016964.1:g.6824G>C

Select item 148308287817.

rs1483082878 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:38137461 (GRCh38)
3:38178952 (GRCh37)
Canonical SPDI:: NC_000003.12:38137460:G:C
Gene:: ACAA1 (Varview), MYD88 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.38137461G>C, NC_000003.11:g.38178952G>C, NG_023225.1:g.4782C>G, NG_016964.1:g.3984G>C

Select item 148299475018.

rs1482994750 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>-,CACA [Show Flanks]
Chromosome:: 3:38142305 (GRCh38)
3:38183796 (GRCh37)
Canonical SPDI:: NC_000003.12:38142297:ACACACACA:ACACACA,NC_000003.12:38142297:ACACACACA:ACACACACACA
Gene:: MYD88 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACA=0.000071/1 (ALFA)
AC=0.000036/5 (GnomAD)
HGVS:: NC_000003.12:g.38142299CA[3], NC_000003.12:g.38142299CA[5], NC_000003.11:g.38183790CA[3], NC_000003.11:g.38183790CA[5], NG_016964.1:g.8822CA[3], NG_016964.1:g.8822CA[5], NM_002468.5:c.*1013CA[3], NM_002468.5:c.*1013CA[5], NM_002468.4:c.*1013CA[3], NM_002468.4:c.*1013CA[5], NM_001172569.3:c.*1147CA[3], NM_001172569.3:c.*1147CA[5], NM_001172569.2:c.*1147CA[3], NM_001172569.2:c.*1147CA[5], NM_001172569.1:c.*1147CA[3], NM_001172569.1:c.*1147CA[5], NM_001172567.2:c.*1013CA[3], NM_001172567.2:c.*1013CA[5], NM_001172567.1:c.*1013CA[3], NM_001172567.1:c.*1013CA[5], NM_001172568.2:c.*1013CA[3], NM_001172568.2:c.*1013CA[5], NM_001172568.1:c.*1013CA[3], NM_001172568.1:c.*1013CA[5], NM_001172566.2:c.*1147CA[3], NM_001172566.2:c.*1147CA[5], NM_001172566.1:c.*1147CA[3], NM_001172566.1:c.*1147CA[5], NM_001365876.1:c.*1147CA[3], NM_001365876.1:c.*1147CA[5], NM_001374787.1:c.*1147CA[3], NM_001374787.1:c.*1147CA[5], NM_001365877.1:c.*1147CA[3], NM_001365877.1:c.*1147CA[5], NM_001374788.1:c.*1013CA[3], NM_001374788.1:c.*1013CA[5], NR_164663.1:n.1587CA[3], NR_164663.1:n.1587CA[5]

Select item 148263276919.

rs1482632769 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:38137173 (GRCh38)
3:38178664 (GRCh37)
Canonical SPDI:: NC_000003.12:38137172:G:A
Gene:: ACAA1 (Varview), MYD88 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000003.12:g.38137173G>A, NC_000003.11:g.38178664G>A, NG_023225.1:g.5070C>T, NG_016964.1:g.3696G>A, NM_001607.3:c.-138C>T, NR_024024.1:n.70C>T, NM_001130410.1:c.-138C>T

Select item 148214739920.

rs1482147399 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:38141583 (GRCh38)
3:38183074 (GRCh37)
Canonical SPDI:: NC_000003.12:38141582:C:T
Gene:: MYD88 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.38141583C>T, NC_000003.11:g.38183074C>T, NG_023225.1:g.660G>A, NG_016964.1:g.8106C>T, NM_002468.5:c.*297C>T, NM_002468.4:c.*297C>T, NM_001172569.3:c.*431C>T, NM_001172569.2:c.*431C>T, NM_001172569.1:c.*431C>T, NM_001172567.2:c.*297C>T, NM_001172567.1:c.*297C>T, NM_001172568.2:c.*297C>T, NM_001172568.1:c.*297C>T, NM_001172566.2:c.*431C>T, NM_001172566.1:c.*431C>T, NM_001365876.1:c.*431C>T, NM_001374787.1:c.*431C>T, NM_001365877.1:c.*431C>T, NM_001374788.1:c.*297C>T, NR_164663.1:n.871C>T

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