SNP Links for Nucleotide (Select 224994253) - SNP

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Links from Nucleotide

Items: 1 to 20 of 4486

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Select item 14915469661.

rs1491546966 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 4:87607356 (GRCh38)
4:88528509 (GRCh37)
Canonical SPDI:: NC_000004.12:87607356::C
Gene:: DSPP (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000004.12:g.87607356_87607357insC, NC_000004.11:g.88528508_88528509insC, NG_011595.1:g.3828_3829insC

Select item 14914176702.

rs1491417670 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: 4:87611031 (GRCh38)
4:88532184 (GRCh37)
Canonical SPDI:: NC_000004.12:87611031:T:TCT
Gene:: DSPP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCT=0./0 (ALFA)
TC=0.04393/235 (GnomAD)
HGVS:: NC_000004.12:g.87611032_87611033insCT, NC_000004.11:g.88532184_88532185insCT, NG_011595.1:g.7504_7505insCT

Select item 14912945473.

rs1491294547 [Homo sapiens]

Variant type:: INS
Alleles:: ->TGA [Show Flanks]
Chromosome:: 4:87616150 (GRCh38)
4:88537303 (GRCh37)
Canonical SPDI:: NC_000004.12:87616150::TGA
Gene:: DSPP (Varview)
Functional Consequence:: coding_sequence_variant,inframe_insertion
HGVS:: NC_000004.12:g.87616150_87616151insTGA, NC_000004.11:g.88537302_88537303insTGA, NG_011595.1:g.12622_12623insTGA, NM_014208.3:c.3488_3489insTGA, NP_055023.2:p.Asp1164dup

Select item 14912927234.

rs1491292723 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGCG,TGCGCG,TGTGCG,TGTGTGCG,TGTGTGTGCG,TGTGTGTGTGCG [Show Flanks]
Chromosome:: 4:87611062 (GRCh38)
4:88532215 (GRCh37)
Canonical SPDI:: NC_000004.12:87611062:G:GTGCG,NC_000004.12:87611062:G:GTGCGCG,NC_000004.12:87611062:G:GTGTGCG,NC_000004.12:87611062:G:GTGTGTGCG,NC_000004.12:87611062:G:GTGTGTGTGCG,NC_000004.12:87611062:G:GTGTGTGTGTGCG
Gene:: DSPP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGCGCG=0./0 (ALFA)
HGVS:: NC_000004.12:g.87611063_87611064insTGCG, NC_000004.12:g.87611063_87611064insTGCGCG, NC_000004.12:g.87611063GT[2]GCG[1], NC_000004.12:g.87611063GT[3]GCG[1], NC_000004.12:g.87611063GT[4]GCG[1], NC_000004.12:g.87611063GT[5]GCG[1], NC_000004.11:g.88532215_88532216insTGCG, NC_000004.11:g.88532215_88532216insTGCGCG, NC_000004.11:g.88532215GT[2]GCG[1], NC_000004.11:g.88532215GT[3]GCG[1], NC_000004.11:g.88532215GT[4]GCG[1], NC_000004.11:g.88532215GT[5]GCG[1], NG_011595.1:g.7535_7536insTGCG, NG_011595.1:g.7535_7536insTGCGCG, NG_011595.1:g.7535GT[2]GCG[1], NG_011595.1:g.7535GT[3]GCG[1], NG_011595.1:g.7535GT[4]GCG[1], NG_011595.1:g.7535GT[5]GCG[1]

Select item 14912641555.

rs1491264155 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>-,TGTG [Show Flanks]
Chromosome:: 4:87607364 (GRCh38)
4:88528516 (GRCh37)
Canonical SPDI:: NC_000004.12:87607355:TGTGTGTGTG:TGTGTGTG,NC_000004.12:87607355:TGTGTGTGTG:TGTGTGTGTGTG
Gene:: DSPP (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTG=0./0 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.87607356TG[4], NC_000004.12:g.87607356TG[6], NC_000004.11:g.88528508TG[4], NC_000004.11:g.88528508TG[6], NG_011595.1:g.3828TG[4], NG_011595.1:g.3828TG[6]

Select item 14912106206.

rs1491210620 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 4:87614615 (GRCh38)
4:88535767 (GRCh37)
Canonical SPDI:: NC_000004.12:87614613:GTG:G
Gene:: DSPP (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: -=0.00073/15 (ExAC)
HGVS:: NC_000004.12:g.87614615_87614616del, NC_000004.11:g.88535767_88535768del, NG_011595.1:g.11087_11088del, NM_014208.3:c.1953_1954del, NP_055023.2:p.Ser651fs

Select item 14910494967.

rs1491049496 has merged into rs768529962 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 4:87615911 (GRCh38)
4:88537063 (GRCh37)
Canonical SPDI:: NC_000004.12:87615909:AAA:A
Gene:: DSPP (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by cluster
MAF:: -=0.000007/1 (GnomAD_exomes)
-=0.000031/1 (GnomAD)
HGVS:: NC_000004.12:g.87615911_87615912del, NC_000004.11:g.88537063_88537064del, NG_011595.1:g.12383_12384del, NM_014208.3:c.3249_3250del, NP_055023.2:p.Ser1084fs

Select item 14910066358.

rs1491006635 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:87615827 (GRCh38)
4:88536979 (GRCh37)
Canonical SPDI:: NC_000004.12:87615826:CA:
Gene:: DSPP (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.00002/3 (GnomAD_exomes)
-=0.003185/53 (TOMMO)
HGVS:: NC_000004.12:g.87615827_87615828del, NC_000004.11:g.88536979_88536980del, NG_011595.1:g.12299_12300del, NM_014208.3:c.3165_3166del, NP_055023.2:p.Ser1055fs

Select item 14909008749.

rs1490900874 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:87615397 (GRCh38)
4:88536549 (GRCh37)
Canonical SPDI:: NC_000004.12:87615396:G:A
Gene:: DSPP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000053/8 (GnomAD_exomes)
HGVS:: NC_000004.12:g.87615397G>A, NC_000004.11:g.88536549G>A, NG_011595.1:g.11869G>A, NM_014208.3:c.2735G>A, NP_055023.2:p.Ser912Asn

Select item 149080461510.

rs1490804615 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:87614264 (GRCh38)
4:88535416 (GRCh37)
Canonical SPDI:: NC_000004.12:87614263:T:C
Gene:: DSPP (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.87614264T>C, NC_000004.11:g.88535416T>C, NG_011595.1:g.10736T>C, NM_014208.3:c.1602T>C

Select item 149064078711.

rs1490640787 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:87606876 (GRCh38)
4:88528028 (GRCh37)
Canonical SPDI:: NC_000004.12:87606875:T:C
Gene:: DSPP (Varview)
Functional Consequence:: upstream_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)
HGVS:: NC_000004.12:g.87606876T>C, NC_000004.11:g.88528028T>C, NG_011595.1:g.3348T>C

Select item 148974348912.

rs1489743489 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:87614100 (GRCh38)
4:88535252 (GRCh37)
Canonical SPDI:: NC_000004.12:87614099:G:A
Gene:: DSPP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.87614100G>A, NC_000004.11:g.88535252G>A, NG_011595.1:g.10572G>A, NM_014208.3:c.1438G>A, NP_055023.2:p.Glu480Lys

Select item 148959804713.

rs1489598047 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGT>- [Show Flanks]
Chromosome:: 4:87614511 (GRCh38)
4:88535663 (GRCh37)
Canonical SPDI:: NC_000004.12:87614506:TAGTAGT:TAGT
Gene:: DSPP (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAGT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.00002/3 (GnomAD_exomes)
HGVS:: NC_000004.12:g.87614508AGT[1], NC_000004.11:g.88535660AGT[1], NG_011595.1:g.10980AGT[1], NM_014208.3:c.1846AGT[1], NP_055023.2:p.Ser617del

Select item 148952799814.

rs1489527998 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:87607835 (GRCh38)
4:88528987 (GRCh37)
Canonical SPDI:: NC_000004.12:87607834:C:G
Gene:: DSPP (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000004.12:g.87607835C>G, NC_000004.11:g.88528987C>G, NG_011595.1:g.4307C>G

Select item 148888646515.

rs1488886465 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:87613102 (GRCh38)
4:88534254 (GRCh37)
Canonical SPDI:: NC_000004.12:87613101:G:T
Gene:: DSPP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.87613102G>T, NC_000004.11:g.88534254G>T, NG_011595.1:g.9574G>T, NM_014208.3:c.916G>T, NP_055023.2:p.Asp306Tyr

Select item 148871283816.

rs1488712838 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:87615960 (GRCh38)
4:88537112 (GRCh37)
Canonical SPDI:: NC_000004.12:87615959:A:G
Gene:: DSPP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.87615960A>G, NC_000004.11:g.88537112A>G, NG_011595.1:g.12432A>G, NM_014208.3:c.3298A>G, NP_055023.2:p.Ser1100Gly

Select item 148866932417.

rs1488669324 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:87616915 (GRCh38)
4:88538067 (GRCh37)
Canonical SPDI:: NC_000004.12:87616914:A:G
Gene:: DSPP (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_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_000004.12:g.87616915A>G, NC_000004.11:g.88538067A>G, NG_011595.1:g.13387A>G

Select item 148822582818.

rs1488225828 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:87612333 (GRCh38)
4:88533485 (GRCh37)
Canonical SPDI:: NC_000004.12:87612332:T:C
Gene:: DSPP (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.87612333T>C, NC_000004.11:g.88533485T>C, NG_011595.1:g.8805T>C, NM_014208.3:c.147T>C

Select item 148821705019.

rs1488217050 [Homo sapiens]

Variant type:: DEL
Alleles:: AGT>- [Show Flanks]
Chromosome:: 4:87614901 (GRCh38)
4:88536053 (GRCh37)
Canonical SPDI:: NC_000004.12:87614900:AGT:
Gene:: DSPP (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
HGVS:: NC_000004.12:g.87614901_87614903del, NC_000004.11:g.88536053_88536055del, NG_011595.1:g.11373_11375del, NM_014208.3:c.2239_2241del, NP_055023.2:p.Ser747del

Select item 148812377720.

rs1488123777 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:87613116 (GRCh38)
4:88534268 (GRCh37)
Canonical SPDI:: NC_000004.12:87613115:A:T
Gene:: DSPP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.87613116A>T, NC_000004.11:g.88534268A>T, NG_011595.1:g.9588A>T, NM_014208.3:c.930A>T, NP_055023.2:p.Lys310Asn

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