SNP Links for Protein (Select 6912272) - SNP

Links from Protein

Items: 1 to 20 of 308

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Select item 14866409611.

rs1486640961 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 4:67577221 (GRCh38)
4:68442939 (GRCh37)
Canonical SPDI:: NC_000004.12:67577220:GGGG:GGG
Gene:: STAP1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.67577224del, NC_000004.11:g.68442942del, NG_047142.1:g.23497del, NM_012108.4:c.328del, NM_012108.3:c.328del, NM_012108.2:c.328del, NM_001317769.2:c.328del, NM_001317769.1:c.328del, NP_036240.1:p.Glu110fs, NP_001304698.1:p.Glu110fs

Select item 14860965292.

rs1486096529 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:67581343 (GRCh38)
4:68447061 (GRCh37)
Canonical SPDI:: NC_000004.12:67581342:A:T
Gene:: STAP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.67581343A>T, NC_000004.11:g.68447061A>T, NG_047142.1:g.27616A>T, NM_012108.4:c.402A>T, NM_012108.3:c.402A>T, NM_012108.2:c.402A>T, NM_001317769.2:c.402A>T, NM_001317769.1:c.402A>T, NP_036240.1:p.Gln134His, NP_001304698.1:p.Gln134His

Select item 14844257003.

rs1484425700 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:67581416 (GRCh38)
4:68447134 (GRCh37)
Canonical SPDI:: NC_000004.12:67581415:G:A
Gene:: STAP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.67581416G>A, NC_000004.11:g.68447134G>A, NG_047142.1:g.27689G>A, NM_012108.4:c.475G>A, NM_012108.3:c.475G>A, NM_012108.2:c.475G>A, NM_001317769.2:c.475G>A, NM_001317769.1:c.475G>A, NP_036240.1:p.Glu159Lys, NP_001304698.1:p.Glu159Lys

Select item 14832194554.

rs1483219455 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 4:67606334 (GRCh38)
4:68472052 (GRCh37)
Canonical SPDI:: NC_000004.12:67606333:A:C,NC_000004.12:67606333:A:G
Gene:: STAP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.67606334A>C, NC_000004.12:g.67606334A>G, NC_000004.11:g.68472052A>C, NC_000004.11:g.68472052A>G, NG_047142.1:g.52607A>C, NG_047142.1:g.52607A>G, NM_012108.4:c.865A>C, NM_012108.4:c.865A>G, NM_012108.3:c.865A>C, NM_012108.3:c.865A>G, NM_012108.2:c.865A>C, NM_012108.2:c.865A>G, NM_001317769.2:c.865A>C, NM_001317769.2:c.865A>G, NM_001317769.1:c.865A>C, NM_001317769.1:c.865A>G, NP_036240.1:p.Lys289Gln, NP_036240.1:p.Lys289Glu, NP_001304698.1:p.Lys289Gln, NP_001304698.1:p.Lys289Glu

Select item 14755681785.

rs1475568178 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:67575466 (GRCh38)
4:68441184 (GRCh37)
Canonical SPDI:: NC_000004.12:67575465:C:G
Gene:: STAP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.67575466C>G, NC_000004.11:g.68441184C>G, NG_047142.1:g.21739C>G, NM_012108.4:c.274C>G, NM_012108.3:c.274C>G, NM_012108.2:c.274C>G, NM_001317769.2:c.274C>G, NM_001317769.1:c.274C>G, NG_077554.1:g.256C>G, NP_036240.1:p.Leu92Val, NP_001304698.1:p.Leu92Val

Select item 14755068926.

rs1475506892 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:67583691 (GRCh38)
4:68449409 (GRCh37)
Canonical SPDI:: NC_000004.12:67583690:G:T
Gene:: STAP1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.67583691G>T, NC_000004.11:g.68449409G>T, NG_047142.1:g.29964G>T, NM_012108.4:c.648G>T, NM_012108.3:c.648G>T, NM_012108.2:c.648G>T, NM_001317769.2:c.648G>T, NM_001317769.1:c.648G>T

Select item 14754993767.

rs1475499376 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:67593301 (GRCh38)
4:68459019 (GRCh37)
Canonical SPDI:: NC_000004.12:67593300:G:A
Gene:: STAP1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.67593301G>A, NC_000004.11:g.68459019G>A, NG_047142.1:g.39574G>A, NM_012108.4:c.771G>A, NM_012108.3:c.771G>A, NM_012108.2:c.771G>A, NM_001317769.2:c.771G>A, NM_001317769.1:c.771G>A

Select item 14752243508.

rs1475224350 [Homo sapiens]

Variant type:: INS
Alleles:: ->T,TAG [Show Flanks]
Chromosome:: 4:67575394 (GRCh38)
4:68441113 (GRCh37)
Canonical SPDI:: NC_000004.12:67575394::T,NC_000004.12:67575394::TAG
Gene:: STAP1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,inframe_indel
Validated:: by frequency,by alfa
MAF:: TAG=0./0 (ALFA)
HGVS:: NC_000004.12:g.67575394_67575395insT, NC_000004.12:g.67575394_67575395insTAG, NC_000004.11:g.68441112_68441113insT, NC_000004.11:g.68441112_68441113insTAG, NG_047142.1:g.21667_21668insT, NG_047142.1:g.21667_21668insTAG, NM_012108.4:c.202_203insT, NM_012108.4:c.202_203insTAG, NM_012108.3:c.202_203insT, NM_012108.3:c.202_203insTAG, NM_012108.2:c.202_203insT, NM_012108.2:c.202_203insTAG, NM_001317769.2:c.202_203insT, NM_001317769.2:c.202_203insTAG, NM_001317769.1:c.202_203insT, NM_001317769.1:c.202_203insTAG, NG_077554.1:g.184_185insT, NG_077554.1:g.184_185insTAG, NP_036240.1:p.Lys68fs, NP_036240.1:p.Lys68delinsIleGlu, NP_001304698.1:p.Lys68fs, NP_001304698.1:p.Lys68delinsIleGlu

Select item 14735460289.

rs1473546028 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:67575477 (GRCh38)
4:68441195 (GRCh37)
Canonical SPDI:: NC_000004.12:67575476:G:A
Gene:: STAP1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000004.12:g.67575477G>A, NC_000004.11:g.68441195G>A, NG_047142.1:g.21750G>A, NM_012108.4:c.285G>A, NM_012108.3:c.285G>A, NM_012108.2:c.285G>A, NM_001317769.2:c.285G>A, NM_001317769.1:c.285G>A, NG_077554.1:g.267G>A

Select item 147200623210.

rs1472006232 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 4:67571116 (GRCh38)
4:68436834 (GRCh37)
Canonical SPDI:: NC_000004.12:67571115:AA:A
Gene:: STAP1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.67571117del, NC_000004.11:g.68436835del, NG_047142.1:g.17390del, NM_012108.4:c.154del, NM_012108.3:c.154del, NM_012108.2:c.154del, NM_001317769.2:c.154del, NM_001317769.1:c.154del, NP_036240.1:p.Thr52fs, NP_001304698.1:p.Thr52fs

Select item 146740851111.

rs1467408511 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:67575389 (GRCh38)
4:68441107 (GRCh37)
Canonical SPDI:: NC_000004.12:67575388:T:C
Gene:: STAP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.67575389T>C, NC_000004.11:g.68441107T>C, NG_047142.1:g.21662T>C, NM_012108.4:c.197T>C, NM_012108.3:c.197T>C, NM_012108.2:c.197T>C, NM_001317769.2:c.197T>C, NM_001317769.1:c.197T>C, NG_077554.1:g.179T>C, NP_036240.1:p.Val66Ala, NP_001304698.1:p.Val66Ala

Select item 146517500812.

rs1465175008 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:67558859 (GRCh38)
4:68424577 (GRCh37)
Canonical SPDI:: NC_000004.12:67558858:A:G
Gene:: STAP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.67558859A>G, NC_000004.11:g.68424577A>G, NG_047142.1:g.5132A>G, NM_012108.4:c.50A>G, NM_012108.3:c.50A>G, NM_012108.2:c.50A>G, NM_001317769.2:c.50A>G, NM_001317769.1:c.50A>G, NP_036240.1:p.Glu17Gly, NP_001304698.1:p.Glu17Gly

Select item 146170644213.

rs1461706442 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:67583614 (GRCh38)
4:68449332 (GRCh37)
Canonical SPDI:: NC_000004.12:67583613:C:T
Gene:: STAP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.67583614C>T, NC_000004.11:g.68449332C>T, NG_047142.1:g.29887C>T, NM_012108.4:c.571C>T, NM_012108.3:c.571C>T, NM_012108.2:c.571C>T, NM_001317769.2:c.571C>T, NM_001317769.1:c.571C>T, NP_036240.1:p.Leu191Phe, NP_001304698.1:p.Leu191Phe

Select item 146119503314.

rs1461195033 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:67581305 (GRCh38)
4:68447023 (GRCh37)
Canonical SPDI:: NC_000004.12:67581304:C:T
Gene:: STAP1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000004.12:g.67581305C>T, NC_000004.11:g.68447023C>T, NG_047142.1:g.27578C>T, NM_012108.4:c.364C>T, NM_012108.3:c.364C>T, NM_012108.2:c.364C>T, NM_001317769.2:c.364C>T, NM_001317769.1:c.364C>T

Select item 145855921115.

rs1458559211 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:67575412 (GRCh38)
4:68441130 (GRCh37)
Canonical SPDI:: NC_000004.12:67575411:C:T
Gene:: STAP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.67575412C>T, NC_000004.11:g.68441130C>T, NG_047142.1:g.21685C>T, NM_012108.4:c.220C>T, NM_012108.3:c.220C>T, NM_012108.2:c.220C>T, NM_001317769.2:c.220C>T, NM_001317769.1:c.220C>T, NG_077554.1:g.202C>T, NP_036240.1:p.Leu74Phe, NP_001304698.1:p.Leu74Phe

Select item 145714680516.

rs1457146805 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:67583667 (GRCh38)
4:68449385 (GRCh37)
Canonical SPDI:: NC_000004.12:67583666:T:C
Gene:: STAP1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.67583667T>C, NC_000004.11:g.68449385T>C, NG_047142.1:g.29940T>C, NM_012108.4:c.624T>C, NM_012108.3:c.624T>C, NM_012108.2:c.624T>C, NM_001317769.2:c.624T>C, NM_001317769.1:c.624T>C

Select item 145469008717.

rs1454690087 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:67581377 (GRCh38)
4:68447095 (GRCh37)
Canonical SPDI:: NC_000004.12:67581376:A:G
Gene:: STAP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.67581377A>G, NC_000004.11:g.68447095A>G, NG_047142.1:g.27650A>G, NM_012108.4:c.436A>G, NM_012108.3:c.436A>G, NM_012108.2:c.436A>G, NM_001317769.2:c.436A>G, NM_001317769.1:c.436A>G, NP_036240.1:p.Lys146Glu, NP_001304698.1:p.Lys146Glu

Select item 144710411718.

rs1447104117 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:67590929 (GRCh38)
4:68456647 (GRCh37)
Canonical SPDI:: NC_000004.12:67590928:C:T
Gene:: STAP1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.67590929C>T, NC_000004.11:g.68456647C>T, NG_047142.1:g.37202C>T, NM_012108.4:c.705C>T, NM_012108.3:c.705C>T, NM_012108.2:c.705C>T, NM_001317769.2:c.705C>T, NM_001317769.1:c.705C>T

Select item 144349342819.

rs1443493428 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:67575441 (GRCh38)
4:68441159 (GRCh37)
Canonical SPDI:: NC_000004.12:67575440:T:A
Gene:: STAP1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.67575441T>A, NC_000004.11:g.68441159T>A, NG_047142.1:g.21714T>A, NM_012108.4:c.249T>A, NM_012108.3:c.249T>A, NM_012108.2:c.249T>A, NM_001317769.2:c.249T>A, NM_001317769.1:c.249T>A, NG_077554.1:g.231T>A

Select item 144022740520.

rs1440227405 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:67558912 (GRCh38)
4:68424630 (GRCh37)
Canonical SPDI:: NC_000004.12:67558911:A:G
Gene:: STAP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.67558912A>G, NC_000004.11:g.68424630A>G, NG_047142.1:g.5185A>G, NM_012108.4:c.103A>G, NM_012108.3:c.103A>G, NM_012108.2:c.103A>G, NM_001317769.2:c.103A>G, NM_001317769.1:c.103A>G, NP_036240.1:p.Lys35Glu, NP_001304698.1:p.Lys35Glu

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