SNP Links for Nucleotide (Select 261245131) - SNP

Warning: The NCBI web site requires JavaScript to function. more...

Links from Nucleotide

Items: 1 to 20 of 550

<< First< Prev

Page of 28

Next >Last >>

Select item 14900822911.

rs1490082291 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 14:69767473 (GRCh38)
14:70234190 (GRCh37)
Canonical SPDI:: NC_000014.9:69767472:G:A,NC_000014.9:69767472:G:T
Gene:: SRSF5 (Varview), LOC100289511 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000015/2 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
HGVS:: NC_000014.9:g.69767473G>A, NC_000014.9:g.69767473G>T, NC_000014.8:g.70234190G>A, NC_000014.8:g.70234190G>T, NR_029378.1:n.241C>T, NR_029378.1:n.241C>A

Select item 14892949592.

rs1489294959 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:69766686 (GRCh38)
14:70233403 (GRCh37)
Canonical SPDI:: NC_000014.9:69766685:G:A
Gene:: SRSF5 (Varview), LOC100289511 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.69766686G>A, NC_000014.8:g.70233403G>A, NR_029378.1:n.1028C>T

Select item 14881804833.

rs1488180483 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:69766316 (GRCh38)
14:70233033 (GRCh37)
Canonical SPDI:: NC_000014.9:69766315:G:C
Gene:: SRSF5 (Varview), LOC100289511 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
HGVS:: NC_000014.9:g.69766316G>C, NC_000014.8:g.70233033G>C, NR_029378.1:n.1398C>G

Select item 14835023334.

rs1483502333 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:69767685 (GRCh38)
14:70234402 (GRCh37)
Canonical SPDI:: NC_000014.9:69767684:T:C
Gene:: SRSF5 (Varview), LOC100289511 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00002/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.69767685T>C, NC_000014.8:g.70234402T>C, NR_029378.1:n.29A>G

Select item 14829583785.

rs1482958378 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGTGA>- [Show Flanks]
Chromosome:: 14:69767432 (GRCh38)
14:70234149 (GRCh37)
Canonical SPDI:: NC_000014.9:69767428:TGAGGTGA:TGA
Gene:: SRSF5 (Varview), LOC100289511 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGA=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.69767432_69767436del, NC_000014.8:g.70234149_70234153del, NR_029378.1:n.281_285del

Select item 14827540936.

rs1482754093 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 14:69766986 (GRCh38)
14:70233703 (GRCh37)
Canonical SPDI:: NC_000014.9:69766985:C:A
Gene:: SRSF5 (Varview), LOC100289511 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000108/2 (ALFA)
A=0.000076/20 (TOPMED)
A=0.0001/14 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000014.9:g.69766986C>A, NC_000014.8:g.70233703C>A, NR_029378.1:n.728G>T

Select item 14803093667.

rs1480309366 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:69767640 (GRCh38)
14:70234357 (GRCh37)
Canonical SPDI:: NC_000014.9:69767639:G:C
Gene:: SRSF5 (Varview), LOC100289511 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.69767640G>C, NC_000014.8:g.70234357G>C, NR_029378.1:n.74C>G

Select item 14799201038.

rs1479920103 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:69767411 (GRCh38)
14:70234128 (GRCh37)
Canonical SPDI:: NC_000014.9:69767410:A:G
Gene:: SRSF5 (Varview), LOC100289511 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/1 (GnomAD_exomes)
G=0.000156/1 (1000Genomes)
HGVS:: NC_000014.9:g.69767411A>G, NC_000014.8:g.70234128A>G, NR_029378.1:n.303T>C

Select item 14794077479.

rs1479407747 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:69767650 (GRCh38)
14:70234367 (GRCh37)
Canonical SPDI:: NC_000014.9:69767649:G:C
Gene:: SRSF5 (Varview), LOC100289511 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000011/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.69767650G>C, NC_000014.8:g.70234367G>C, NR_029378.1:n.64C>G

Select item 147894450310.

rs1478944503 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 14:69767404 (GRCh38)
14:70234121 (GRCh37)
Canonical SPDI:: NC_000014.9:69767403:T:A,NC_000014.9:69767403:T:C
Gene:: SRSF5 (Varview), LOC100289511 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.69767404T>A, NC_000014.9:g.69767404T>C, NC_000014.8:g.70234121T>A, NC_000014.8:g.70234121T>C, NR_029378.1:n.310A>T, NR_029378.1:n.310A>G

Select item 147863326911.

rs1478633269 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 14:69767421 (GRCh38)
14:70234138 (GRCh37)
Canonical SPDI:: NC_000014.9:69767420:A:C
Gene:: SRSF5 (Varview), LOC100289511 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.69767421A>C, NC_000014.8:g.70234138A>C, NR_029378.1:n.293T>G

Select item 147731828912.

rs1477318289 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 14:69767713 (GRCh38)
14:70234430 (GRCh37)
Canonical SPDI:: NC_000014.9:69767712:T:G
Gene:: SRSF5 (Varview), LOC100289511 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,intron_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_000014.9:g.69767713T>G, NC_000014.8:g.70234430T>G, NR_029378.1:n.1A>C

Select item 147689286813.

rs1476892868 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:69767537 (GRCh38)
14:70234254 (GRCh37)
Canonical SPDI:: NC_000014.9:69767536:G:A
Gene:: SRSF5 (Varview), LOC100289511 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.69767537G>A, NC_000014.8:g.70234254G>A, NR_029378.1:n.177C>T

Select item 147670121314.

rs1476701213 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 14:69767488 (GRCh38)
14:70234205 (GRCh37)
Canonical SPDI:: NC_000014.9:69767487:C:G,NC_000014.9:69767487:C:T
Gene:: SRSF5 (Varview), LOC100289511 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.69767488C>G, NC_000014.9:g.69767488C>T, NC_000014.8:g.70234205C>G, NC_000014.8:g.70234205C>T, NR_029378.1:n.226G>C, NR_029378.1:n.226G>A

Select item 147342610015.

rs1473426100 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 14:69767606 (GRCh38)
14:70234323 (GRCh37)
Canonical SPDI:: NC_000014.9:69767605:G:A,NC_000014.9:69767605:G:T
Gene:: SRSF5 (Varview), LOC100289511 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.69767606G>A, NC_000014.9:g.69767606G>T, NC_000014.8:g.70234323G>A, NC_000014.8:g.70234323G>T, NR_029378.1:n.108C>T, NR_029378.1:n.108C>A

Select item 147312336416.

rs1473123364 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:69767191 (GRCh38)
14:70233908 (GRCh37)
Canonical SPDI:: NC_000014.9:69767190:T:C
Gene:: SRSF5 (Varview), LOC100289511 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000014.9:g.69767191T>C, NC_000014.8:g.70233908T>C, NM_006925.5:c.-80T>C, NM_006925.4:c.-80T>C, NM_006925.3:c.-80T>C, XM_011537077.4:c.-84T>C, XM_011537077.3:c.-84T>C, XM_011537077.2:c.-84T>C, XM_011537077.1:c.-84T>C, XM_017021593.3:c.-209T>C, XM_017021593.2:c.-209T>C, XM_017021593.1:c.-209T>C, XM_005267999.3:c.-84T>C, XM_005267999.2:c.-84T>C, XM_005267999.1:c.-84T>C, XM_005268000.3:c.-80T>C, XM_005268000.2:c.-80T>C, XM_005268000.1:c.-80T>C, NM_001039465.2:c.-209T>C, NM_001039465.1:c.-209T>C, NM_001320214.2:c.-84T>C, NM_001320214.1:c.-84T>C, NR_029378.1:n.523A>G, XM_047431683.1:c.-80T>C, XM_047431686.1:c.-209T>C, NM_001411040.1:c.-209T>C, XM_047431684.1:c.-84T>C, XM_047431685.1:c.-80T>C

Select item 147306878417.

rs1473068784 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGCTCTGC>- [Show Flanks]
Chromosome:: 14:69767649 (GRCh38)
14:70234366 (GRCh37)
Canonical SPDI:: NC_000014.9:69767646:GCAGCTCTGC:GC
Gene:: SRSF5 (Varview), LOC100289511 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.69767649_69767656del, NC_000014.8:g.70234366_70234373del, NR_029378.1:n.60_67del

Select item 146980154918.

rs1469801549 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:69766337 (GRCh38)
14:70233054 (GRCh37)
Canonical SPDI:: NC_000014.9:69766336:T:C
Gene:: SRSF5 (Varview), LOC100289511 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000014.9:g.69766337T>C, NC_000014.8:g.70233054T>C, NR_029378.1:n.1377A>G

Select item 146827901619.

rs1468279016 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 14:69767327 (GRCh38)
14:70234044 (GRCh37)
Canonical SPDI:: NC_000014.9:69767326:CC:C
Gene:: SRSF5 (Varview), LOC100289511 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.69767328del, NC_000014.8:g.70234045del, XM_017021593.3:c.-72del, XM_017021593.2:c.-72del, XM_017021593.1:c.-72del, NM_001039465.2:c.-72del, NM_001039465.1:c.-72del, NR_029378.1:n.387del, XM_047431686.1:c.-72del, NM_001411040.1:c.-72del

Select item 146821874420.

rs1468218744 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:69766752 (GRCh38)
14:70233469 (GRCh37)
Canonical SPDI:: NC_000014.9:69766751:T:C
Gene:: SRSF5 (Varview), LOC100289511 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000156/1 (1000Genomes)
HGVS:: NC_000014.9:g.69766752T>C, NC_000014.8:g.70233469T>C, NR_029378.1:n.962A>G