SNP Links for Protein (Select 89001107) - SNP

Links from Protein

Items: 1 to 20 of 2026

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Select item 14912945471.

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 14912106202.

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 14910494963.

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 14910066354.

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 14909008745.

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 14908046156.

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 14897434897.

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 14895980478.

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 14888864659.

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 148871283810.

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 148822582811.

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 148821705012.

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 148812377713.

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

Select item 148779590214.

rs1487795902 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:87616248 (GRCh38)
4:88537400 (GRCh37)
Canonical SPDI:: NC_000004.12:87616247:A:G
Gene:: DSPP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.87616248A>G, NC_000004.11:g.88537400A>G, NG_011595.1:g.12720A>G, NM_014208.3:c.3586A>G, NP_055023.2:p.Ser1196Gly

Select item 148660742215.

rs1486607422 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:87612341 (GRCh38)
4:88533493 (GRCh37)
Canonical SPDI:: NC_000004.12:87612340:G:T
Gene:: DSPP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
HGVS:: NC_000004.12:g.87612341G>T, NC_000004.11:g.88533493G>T, NG_011595.1:g.8813G>T, NM_014208.3:c.155G>T, NP_055023.2:p.Gly52Val

Select item 148631081016.

rs1486310810 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:87614790 (GRCh38)
4:88535942 (GRCh37)
Canonical SPDI:: NC_000004.12:87614789:A:G
Gene:: DSPP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.87614790A>G, NC_000004.11:g.88535942A>G, NG_011595.1:g.11262A>G, NM_014208.3:c.2128A>G, NP_055023.2:p.Ser710Gly

Select item 148546882717.

rs1485468827 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:87616372 (GRCh38)
4:88537524 (GRCh37)
Canonical SPDI:: NC_000004.12:87616371:G:A
Gene:: DSPP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.87616372G>A, NC_000004.11:g.88537524G>A, NG_011595.1:g.12844G>A, NM_014208.3:c.3710G>A, NP_055023.2:p.Ser1237Asn

Select item 148529795818.

rs1485297958 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:87616094 (GRCh38)
4:88537246 (GRCh37)
Canonical SPDI:: NC_000004.12:87616093:C:T
Gene:: DSPP (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.87616094C>T, NC_000004.11:g.88537246C>T, NG_011595.1:g.12566C>T, NM_014208.3:c.3432C>T

Select item 148497035419.

rs1484970354 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:87615757 (GRCh38)
4:88536909 (GRCh37)
Canonical SPDI:: NC_000004.12:87615756:A:G
Gene:: DSPP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.87615757A>G, NC_000004.11:g.88536909A>G, NG_011595.1:g.12229A>G, NM_014208.3:c.3095A>G, NP_055023.2:p.Asp1032Gly

Select item 148478662320.

rs1484786623 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:87614882 (GRCh38)
4:88536034 (GRCh37)
Canonical SPDI:: NC_000004.12:87614881:C:A
Gene:: DSPP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000094/2 (ALFA)
A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.87614882C>A, NC_000004.11:g.88536034C>A, NG_011595.1:g.11354C>A, NM_014208.3:c.2220C>A, NP_055023.2:p.Ser740Arg

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