SNP Links for Gene (Select 6427) - SNP

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Select item 14914414601.

rs1491441460 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 17:76735404 (GRCh38)
17:74731487 (GRCh37)
Canonical SPDI:: NC_000017.11:76735404:G:GG
Gene:: SRSF2 (Varview), MFSD11 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
HGVS:: NC_000017.11:g.76735405dup, NC_000017.10:g.74731487dup, NG_041790.1:g.13576dup, NG_032905.1:g.7007dup, NM_003016.4:c.*756dup

Select item 14900631422.

rs1490063142 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:76736468 (GRCh38)
17:74732550 (GRCh37)
Canonical SPDI:: NC_000017.11:76736467:C:T
Gene:: SRSF2 (Varview), MFSD11 (Varview), MIR636 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,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_000017.11:g.76736468C>T, NC_000017.10:g.74732550C>T, NG_032905.1:g.5944G>A, NR_030366.1:n.81G>A

Select item 14899932283.

rs1489993228 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 17:76738504 (GRCh38)
17:74734586 (GRCh37)
Canonical SPDI:: NC_000017.11:76738503:A:C,NC_000017.11:76738503:A:T
Gene:: SRSF2 (Varview), MFSD11 (Varview), MIR636 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000051/1 (ALFA)
T=0.000005/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.76738504A>C, NC_000017.11:g.76738504A>T, NC_000017.10:g.74734586A>C, NC_000017.10:g.74734586A>T, NG_032905.1:g.3908T>G, NG_032905.1:g.3908T>A

Select item 14898989104.

rs1489898910 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:76734105 (GRCh38)
17:74730187 (GRCh37)
Canonical SPDI:: NC_000017.11:76734104:C:T
Gene:: SRSF2 (Varview), METTL23 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.76734105C>T, NC_000017.10:g.74730187C>T, NG_041790.1:g.12276C>T, NG_032905.1:g.8307G>A

Select item 14895127685.

rs1489512768 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:76737412 (GRCh38)
17:74733494 (GRCh37)
Canonical SPDI:: NC_000017.11:76737411:G:C
Gene:: SRSF2 (Varview), MFSD11 (Varview), MIR636 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.76737412G>C, NC_000017.10:g.74733494G>C, NG_032905.1:g.5000C>G

Select item 14887814146.

rs1488781414 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:76734620 (GRCh38)
17:74730702 (GRCh37)
Canonical SPDI:: NC_000017.11:76734619:T:G
Gene:: SRSF2 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,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_000017.11:g.76734620T>G, NC_000017.10:g.74730702T>G, NG_041790.1:g.12791T>G, NG_032905.1:g.7792A>C, NM_003016.4:c.*1541A>C, NR_036608.2:n.1487A>C, NR_036608.1:n.1567A>C, NM_001195427.2:c.*546A>C, NM_001195427.1:c.*546A>C

Select item 14880118917.

rs1488011891 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 17:76736362 (GRCh38)
17:74732444 (GRCh37)
Canonical SPDI:: NC_000017.11:76736361:A:G,NC_000017.11:76736361:A:T
Gene:: SRSF2 (Varview), MFSD11 (Varview), MIR636 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,500B_downstream_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000043/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.76736362A>G, NC_000017.11:g.76736362A>T, NC_000017.10:g.74732444A>G, NC_000017.10:g.74732444A>T, NG_032905.1:g.6050T>C, NG_032905.1:g.6050T>A, NM_003016.4:c.465T>C, NM_003016.4:c.465T>A, NR_036608.2:n.636T>C, NR_036608.2:n.636T>A, NR_036608.1:n.716T>C, NR_036608.1:n.716T>A, NM_001195427.2:c.465T>C, NM_001195427.2:c.465T>A, NM_001195427.1:c.465T>C, NM_001195427.1:c.465T>A, XR_429914.5:n.716T>C, XR_429914.5:n.716T>A, XR_429914.4:n.637T>C, XR_429914.4:n.637T>A, XR_429914.3:n.736T>C, XR_429914.3:n.736T>A, XR_429914.2:n.934T>C, XR_429914.2:n.934T>A, XR_429914.1:n.700T>C, XR_429914.1:n.700T>A, XR_429913.5:n.716T>C, XR_429913.5:n.716T>A, XR_429913.4:n.637T>C, XR_429913.4:n.637T>A, XR_429913.3:n.736T>C, XR_429913.3:n.736T>A, XR_429913.2:n.934T>C, XR_429913.2:n.934T>A, XR_429913.1:n.700T>C, XR_429913.1:n.700T>A, XR_002958055.2:n.716T>C, XR_002958055.2:n.716T>A, XR_002958055.1:n.637T>C, XR_002958055.1:n.637T>A

Select item 14876170638.

rs1487617063 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 17:76737430 (GRCh38)
17:74733512 (GRCh37)
Canonical SPDI:: NC_000017.11:76737429:C:A,NC_000017.11:76737429:C:G
Gene:: SRSF2 (Varview), MFSD11 (Varview), MIR636 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.76737430C>A, NC_000017.11:g.76737430C>G, NC_000017.10:g.74733512C>A, NC_000017.10:g.74733512C>G, NG_032905.1:g.4982G>T, NG_032905.1:g.4982G>C

Select item 14865375309.

rs1486537530 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:76737324 (GRCh38)
17:74733406 (GRCh37)
Canonical SPDI:: NC_000017.11:76737323:T:G
Gene:: SRSF2 (Varview), MFSD11 (Varview), MIR636 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,intron_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_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_000017.11:g.76737324T>G, NC_000017.10:g.74733406T>G, NG_032905.1:g.5088A>C, NM_003016.4:c.-164A>C, NR_036608.2:n.8A>C, NR_036608.1:n.88A>C, NM_001195427.2:c.-164A>C, NM_001195427.1:c.-164A>C, XR_429914.5:n.88A>C, XR_429914.4:n.9A>C, XR_429914.3:n.108A>C, XR_429914.2:n.306A>C, XR_429914.1:n.72A>C, XR_429913.5:n.88A>C, XR_429913.4:n.9A>C, XR_429913.3:n.108A>C, XR_429913.2:n.306A>C, XR_429913.1:n.72A>C, XR_002958055.2:n.88A>C, XR_002958055.1:n.9A>C

Select item 148641504510.

rs1486415045 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:76736170 (GRCh38)
17:74732252 (GRCh37)
Canonical SPDI:: NC_000017.11:76736169:C:G,NC_000017.11:76736169:C:T
Gene:: SRSF2 (Varview), MFSD11 (Varview), MIR636 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,500B_downstream_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000008/2 (GnomAD_exomes)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000017.11:g.76736170C>G, NC_000017.11:g.76736170C>T, NC_000017.10:g.74732252C>G, NC_000017.10:g.74732252C>T, NG_032905.1:g.6242G>C, NG_032905.1:g.6242G>A, NM_003016.4:c.657G>C, NM_003016.4:c.657G>A, NR_036608.2:n.828G>C, NR_036608.2:n.828G>A, NR_036608.1:n.908G>C, NR_036608.1:n.908G>A, NM_001195427.2:c.657G>C, NM_001195427.2:c.657G>A, NM_001195427.1:c.657G>C, NM_001195427.1:c.657G>A, XR_429914.5:n.908G>C, XR_429914.5:n.908G>A, XR_429914.4:n.829G>C, XR_429914.4:n.829G>A, XR_429914.3:n.928G>C, XR_429914.3:n.928G>A, XR_429914.2:n.1126G>C, XR_429914.2:n.1126G>A, XR_429914.1:n.892G>C, XR_429914.1:n.892G>A, XR_429913.5:n.908G>C, XR_429913.5:n.908G>A, XR_429913.4:n.829G>C, XR_429913.4:n.829G>A, XR_429913.3:n.928G>C, XR_429913.3:n.928G>A, XR_429913.2:n.1126G>C, XR_429913.2:n.1126G>A, XR_429913.1:n.892G>C, XR_429913.1:n.892G>A, XR_002958055.2:n.908G>C, XR_002958055.2:n.908G>A, XR_002958055.1:n.829G>C, XR_002958055.1:n.829G>A

Select item 148632763411.

rs1486327634 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:76736611 (GRCh38)
17:74732693 (GRCh37)
Canonical SPDI:: NC_000017.11:76736610:C:G
Gene:: SRSF2 (Varview), MFSD11 (Varview), MIR636 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000026/7 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000017.11:g.76736611C>G, NC_000017.10:g.74732693C>G, NG_032905.1:g.5801G>C, NM_001242534.2:c.-552C>G, NM_001242534.1:c.-552C>G, NR_148231.1:n.47C>G, NR_148230.1:n.47C>G, NR_148229.1:n.47C>G, NM_001353017.1:c.-547C>G

Select item 148624858112.

rs1486248581 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:76735511 (GRCh38)
17:74731593 (GRCh37)
Canonical SPDI:: NC_000017.11:76735510:T:C
Gene:: SRSF2 (Varview), MFSD11 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.76735511T>C, NC_000017.10:g.74731593T>C, NG_041790.1:g.13682T>C, NG_032905.1:g.6901A>G, NM_003016.4:c.*650A>G

Select item 148556382613.

rs1485563826 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:76737495 (GRCh38)
17:74733577 (GRCh37)
Canonical SPDI:: NC_000017.11:76737494:C:G
Gene:: SRSF2 (Varview), MFSD11 (Varview), MIR636 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,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_000017.11:g.76737495C>G, NC_000017.10:g.74733577C>G, NG_032905.1:g.4917G>C

Select item 148431037714.

rs1484310377 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:76735700 (GRCh38)
17:74731782 (GRCh37)
Canonical SPDI:: NC_000017.11:76735699:A:C
Gene:: SRSF2 (Varview), MFSD11 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant,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_000017.11:g.76735700A>C, NC_000017.10:g.74731782A>C, NG_041790.1:g.13871A>C, NG_032905.1:g.6712T>G, NM_003016.4:c.*461T>G

Select item 148411586015.

rs1484115860 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:76734908 (GRCh38)
17:74730990 (GRCh37)
Canonical SPDI:: NC_000017.11:76734907:A:C
Gene:: SRSF2 (Varview), MFSD11 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,intron_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.76734908A>C, NC_000017.10:g.74730990A>C, NG_041790.1:g.13079A>C, NG_032905.1:g.7504T>G, NM_003016.4:c.*1253T>G, NR_036608.2:n.1199T>G, NR_036608.1:n.1279T>G, NM_001195427.2:c.*258T>G, NM_001195427.1:c.*258T>G

Select item 148410971616.

rs1484109716 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:76737985 (GRCh38)
17:74734067 (GRCh37)
Canonical SPDI:: NC_000017.11:76737984:G:A,NC_000017.11:76737984:G:T
Gene:: SRSF2 (Varview), MFSD11 (Varview), MIR636 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.76737985G>A, NC_000017.11:g.76737985G>T, NC_000017.10:g.74734067G>A, NC_000017.10:g.74734067G>T, NG_032905.1:g.4427C>T, NG_032905.1:g.4427C>A, NM_001242532.4:c.-368G>A, NM_001242532.4:c.-368G>T, NM_001242532.3:c.-368G>A, NM_001242532.3:c.-368G>T, XM_017025065.3:c.-85G>A, XM_017025065.3:c.-85G>T, XM_017025065.2:c.-85G>A, XM_017025065.2:c.-85G>T, XM_017025065.1:c.-85G>A, XM_017025065.1:c.-85G>T, NM_001353019.2:c.-85G>A, NM_001353019.2:c.-85G>T, NM_001353019.1:c.-85G>A, NM_001353019.1:c.-85G>T, NM_001242532.2:c.-368G>A, NM_001242532.2:c.-368G>T, NM_001242533.2:c.-252G>A, NM_001242533.2:c.-252G>T, NM_001242536.2:c.-252G>A, NM_001242536.2:c.-252G>T, NM_001242532.1:c.-368G>A, NM_001242532.1:c.-368G>T, NM_001242533.1:c.-252G>A, NM_001242533.1:c.-252G>T, NM_001242536.1:c.-252G>A, NM_001242536.1:c.-252G>T, NR_148232.1:n.485G>A, NR_148232.1:n.485G>T, NR_148234.1:n.485G>A, NR_148234.1:n.485G>T, NR_148235.1:n.485G>A, NR_148235.1:n.485G>T, NR_148240.1:n.485G>A, NR_148240.1:n.485G>T, NR_148237.1:n.485G>A, NR_148237.1:n.485G>T, NR_148239.1:n.485G>A, NR_148239.1:n.485G>T, NR_148238.1:n.485G>A, NR_148238.1:n.485G>T, NR_148233.1:n.485G>A, NR_148233.1:n.485G>T, NR_148236.1:n.485G>A, NR_148236.1:n.485G>T, NR_148242.1:n.485G>A, NR_148242.1:n.485G>T

Select item 148357690117.

rs1483576901 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:76738342 (GRCh38)
17:74734424 (GRCh37)
Canonical SPDI:: NC_000017.11:76738341:G:C
Gene:: SRSF2 (Varview), MFSD11 (Varview), MIR636 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.76738342G>C, NC_000017.10:g.74734424G>C, NG_032905.1:g.4070C>G, NM_024311.5:c.-11G>C, NM_024311.4:c.-11G>C, NM_024311.3:c.-11G>C, NM_001242532.5:c.-11G>C, NM_001242532.4:c.-11G>C, NM_001242532.3:c.-11G>C, NM_001242532.2:c.-11G>C, NM_001242532.1:c.-11G>C, XM_011525241.4:c.-11G>C, XM_011525241.3:c.-11G>C, XM_011525241.2:c.-11G>C, XM_011525241.1:c.-11G>C, XM_011525238.4:c.-11G>C, XM_011525238.3:c.-11G>C, XM_011525238.2:c.-11G>C, XM_011525238.1:c.-11G>C, XM_011525239.4:c.-11G>C, XM_011525239.3:c.-11G>C, XM_011525239.2:c.-11G>C, XM_011525239.1:c.-11G>C, XM_011525237.4:c.-11G>C, XM_011525237.3:c.-11G>C, XM_011525237.2:c.-11G>C, XM_011525237.1:c.-11G>C, NM_001242534.3:c.-11G>C, NM_001242534.2:c.-11G>C, NM_001242534.1:c.-11G>C, NM_001242535.3:c.-11G>C, NM_001242535.2:c.-11G>C, NM_001242535.1:c.-11G>C, NM_001242537.3:c.-11G>C, NM_001242537.2:c.-11G>C, NM_001242537.1:c.-11G>C, NM_001242533.3:c.-11G>C, NM_001242533.2:c.-11G>C, NM_001242533.1:c.-11G>C, NM_001242536.3:c.-11G>C, NM_001242536.2:c.-11G>C, NM_001242536.1:c.-11G>C, XM_017025065.3:c.-11G>C, XM_017025065.2:c.-11G>C, XM_017025065.1:c.-11G>C, NR_148231.2:n.519G>C, NR_148231.1:n.588G>C, NR_148230.2:n.519G>C, NR_148230.1:n.588G>C, NR_148229.2:n.519G>C, NR_148229.1:n.588G>C, NM_001353017.2:c.-11G>C, NM_001353017.1:c.-11G>C, NM_001353019.2:c.-11G>C, NM_001353019.1:c.-11G>C, NR_148232.2:n.224G>C, NR_148232.1:n.842G>C, NR_148234.2:n.224G>C, NR_148234.1:n.842G>C, NR_148235.2:n.224G>C, NR_148235.1:n.842G>C, NR_148240.2:n.108G>C, NR_148240.1:n.726G>C, NR_148237.2:n.108G>C, NR_148237.1:n.726G>C, NM_001353018.2:c.-11G>C, NM_001353018.1:c.-11G>C, NR_148239.2:n.108G>C, NR_148239.1:n.726G>C, NR_148238.2:n.224G>C, NR_148238.1:n.842G>C, NR_148233.2:n.224G>C, NR_148233.1:n.842G>C, NR_148236.2:n.108G>C, NR_148236.1:n.726G>C, NR_148242.2:n.108G>C, NR_148242.1:n.726G>C, XM_047436735.1:c.-11G>C, XM_047436733.1:c.-11G>C, XM_047436736.1:c.-11G>C, XM_047436737.1:c.-11G>C

Select item 148307372918.

rs1483073729 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGAGA>- [Show Flanks]
Chromosome:: 17:76734588 (GRCh38)
17:74730670 (GRCh37)
Canonical SPDI:: NC_000017.11:76734581:AAGAGAAGAGA:AAGAGA
Gene:: SRSF2 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AAGAGA=0./0 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.76734583AGAGA[1], NC_000017.10:g.74730665AGAGA[1], NG_041790.1:g.12754AGAGA[1], NG_032905.1:g.7821CTCTT[1], NM_003016.4:c.*1570CTCTT[1], NR_036608.2:n.1516CTCTT[1], NR_036608.1:n.1596CTCTT[1], NM_001195427.2:c.*575CTCTT[1], NM_001195427.1:c.*575CTCTT[1]

Select item 148302655819.

rs1483026558 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:76736018 (GRCh38)
17:74732100 (GRCh37)
Canonical SPDI:: NC_000017.11:76736017:T:C
Gene:: SRSF2 (Varview), MFSD11 (Varview), MIR636 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,500B_downstream_variant,intron_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.76736018T>C, NC_000017.10:g.74732100T>C, NG_032905.1:g.6394A>G, NM_003016.4:c.*143A>G, XR_002958055.2:n.1060A>G, XR_002958055.1:n.981A>G

Select item 148297308620.

rs1482973086 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:76736526 (GRCh38)
17:74732608 (GRCh37)
Canonical SPDI:: NC_000017.11:76736525:G:A
Gene:: SRSF2 (Varview), MFSD11 (Varview), MIR636 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.76736526G>A, NC_000017.10:g.74732608G>A, NG_032905.1:g.5886C>T, NR_030366.1:n.23C>T

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