SNP Links for Protein (Select 269954664) - SNP

Links from Protein

Items: 1 to 20 of 159

<< First< Prev

Page of 8

Next >Last >>

Select item 14896771261.

rs1489677126 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:50278841 (GRCh38)
17:48356202 (GRCh37)
Canonical SPDI:: NC_000017.11:50278840:T:G
Gene:: TMEM92 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.50278841T>G, NC_000017.10:g.48356202T>G, NG_054733.1:g.12436T>G, NM_153229.3:c.211T>G, NM_153229.2:c.211T>G, NM_001168215.2:c.211T>G, NM_001168215.1:c.211T>G, XM_006721730.4:c.211T>G, XM_006721730.3:c.211T>G, XM_006721730.2:c.211T>G, XM_006721730.1:c.211T>G, NP_694961.2:p.Cys71Gly, NP_001161687.1:p.Cys71Gly, XP_006721793.1:p.Cys71Gly

Select item 14749117902.

rs1474911790 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:50278979 (GRCh38)
17:48356340 (GRCh37)
Canonical SPDI:: NC_000017.11:50278978:C:T
Gene:: TMEM92 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.50278979C>T, NC_000017.10:g.48356340C>T, NG_054733.1:g.12574C>T, NM_153229.3:c.349C>T, NM_153229.2:c.349C>T, NM_001168215.2:c.349C>T, NM_001168215.1:c.349C>T, NP_694961.2:p.Pro117Ser, NP_001161687.1:p.Pro117Ser

Select item 14726552073.

rs1472655207 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:50278579 (GRCh38)
17:48355940 (GRCh37)
Canonical SPDI:: NC_000017.11:50278578:G:A
Gene:: TMEM92 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.50278579G>A, NC_000017.10:g.48355940G>A, NG_054733.1:g.12174G>A, NM_153229.3:c.119G>A, NM_153229.2:c.119G>A, NM_001168215.2:c.119G>A, NM_001168215.1:c.119G>A, XM_006721730.4:c.119G>A, XM_006721730.3:c.119G>A, XM_006721730.2:c.119G>A, XM_006721730.1:c.119G>A, NP_694961.2:p.Cys40Tyr, NP_001161687.1:p.Cys40Tyr, XP_006721793.1:p.Cys40Tyr

Select item 14668046464.

rs1466804646 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:50278591 (GRCh38)
17:48355952 (GRCh37)
Canonical SPDI:: NC_000017.11:50278590:G:A
Gene:: TMEM92 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.50278591G>A, NC_000017.10:g.48355952G>A, NG_054733.1:g.12186G>A, NM_153229.3:c.131G>A, NM_153229.2:c.131G>A, NM_001168215.2:c.131G>A, NM_001168215.1:c.131G>A, XM_006721730.4:c.131G>A, XM_006721730.3:c.131G>A, XM_006721730.2:c.131G>A, XM_006721730.1:c.131G>A, NP_694961.2:p.Ser44Asn, NP_001161687.1:p.Ser44Asn, XP_006721793.1:p.Ser44Asn

Select item 14662759595.

rs1466275959 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:50278944 (GRCh38)
17:48356305 (GRCh37)
Canonical SPDI:: NC_000017.11:50278943:C:T
Gene:: TMEM92 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.50278944C>T, NC_000017.10:g.48356305C>T, NG_054733.1:g.12539C>T, NM_153229.3:c.314C>T, NM_153229.2:c.314C>T, NM_001168215.2:c.314C>T, NM_001168215.1:c.314C>T, XM_006721730.4:c.314C>T, XM_006721730.3:c.314C>T, XM_006721730.2:c.314C>T, XM_006721730.1:c.314C>T, NP_694961.2:p.Pro105Leu, NP_001161687.1:p.Pro105Leu, XP_006721793.1:p.Pro105Leu

Select item 14561123686.

rs1456112368 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:50278921 (GRCh38)
17:48356282 (GRCh37)
Canonical SPDI:: NC_000017.11:50278920:C:T
Gene:: TMEM92 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.50278921C>T, NC_000017.10:g.48356282C>T, NG_054733.1:g.12516C>T, NM_153229.3:c.291C>T, NM_153229.2:c.291C>T, NM_001168215.2:c.291C>T, NM_001168215.1:c.291C>T, XM_006721730.4:c.291C>T, XM_006721730.3:c.291C>T, XM_006721730.2:c.291C>T, XM_006721730.1:c.291C>T

Select item 14505724267.

rs1450572426 has merged into rs1367713244 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC [Show Flanks]
Chromosome:: 17:50278942 (GRCh38)
17:48356303 (GRCh37)
Canonical SPDI:: NC_000017.11:50278941:CCCCCC:CCCCC,NC_000017.11:50278941:CCCCCC:CCCCCCC
Gene:: TMEM92 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCC=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.50278947del, NC_000017.11:g.50278947dup, NC_000017.10:g.48356308del, NC_000017.10:g.48356308dup, NG_054733.1:g.12542del, NG_054733.1:g.12542dup, NM_153229.3:c.317del, NM_153229.3:c.317dup, NM_153229.2:c.317del, NM_153229.2:c.317dup, NM_001168215.2:c.317del, NM_001168215.2:c.317dup, NM_001168215.1:c.317del, NM_001168215.1:c.317dup, XM_006721730.4:c.317del, XM_006721730.4:c.317dup, XM_006721730.3:c.317del, XM_006721730.3:c.317dup, XM_006721730.2:c.317del, XM_006721730.2:c.317dup, XM_006721730.1:c.317del, XM_006721730.1:c.317dup, NP_694961.2:p.Pro106fs, NP_694961.2:p.Glu107fs, NP_001161687.1:p.Pro106fs, NP_001161687.1:p.Glu107fs, XP_006721793.1:p.Pro106fs, XP_006721793.1:p.Glu107fs

Select item 14505060198.

rs1450506019 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:50278845 (GRCh38)
17:48356206 (GRCh37)
Canonical SPDI:: NC_000017.11:50278844:T:C
Gene:: TMEM92 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.50278845T>C, NC_000017.10:g.48356206T>C, NG_054733.1:g.12440T>C, NM_153229.3:c.215T>C, NM_153229.2:c.215T>C, NM_001168215.2:c.215T>C, NM_001168215.1:c.215T>C, XM_006721730.4:c.215T>C, XM_006721730.3:c.215T>C, XM_006721730.2:c.215T>C, XM_006721730.1:c.215T>C, NP_694961.2:p.Ile72Thr, NP_001161687.1:p.Ile72Thr, XP_006721793.1:p.Ile72Thr

Select item 14496682529.

rs1449668252 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:50277731 (GRCh38)
17:48355092 (GRCh37)
Canonical SPDI:: NC_000017.11:50277730:G:T
Gene:: TMEM92 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.50277731G>T, NC_000017.10:g.48355092G>T, NG_054733.1:g.11326G>T, NM_153229.3:c.86G>T, NM_153229.2:c.86G>T, NM_001168215.2:c.86G>T, NM_001168215.1:c.86G>T, XM_006721730.4:c.86G>T, XM_006721730.3:c.86G>T, XM_006721730.2:c.86G>T, XM_006721730.1:c.86G>T, NP_694961.2:p.Gly29Val, NP_001161687.1:p.Gly29Val, XP_006721793.1:p.Gly29Val

Select item 144882594110.

rs1448825941 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:50279276 (GRCh38)
17:48356637 (GRCh37)
Canonical SPDI:: NC_000017.11:50279275:G:A
Gene:: TMEM92 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.50279276G>A, NC_000017.10:g.48356637G>A, NG_054733.1:g.12871G>A, NM_153229.3:c.448G>A, NM_153229.2:c.448G>A, NM_001168215.2:c.448G>A, NM_001168215.1:c.448G>A, XM_006721730.4:c.406G>A, XM_006721730.3:c.406G>A, XM_006721730.2:c.406G>A, XM_006721730.1:c.406G>A, NP_694961.2:p.Asp150Asn, NP_001161687.1:p.Asp150Asn, XP_006721793.1:p.Asp136Asn

Select item 144485191811.

rs1444851918 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:50278862 (GRCh38)
17:48356223 (GRCh37)
Canonical SPDI:: NC_000017.11:50278861:T:C
Gene:: TMEM92 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.50278862T>C, NC_000017.10:g.48356223T>C, NG_054733.1:g.12457T>C, NM_153229.3:c.232T>C, NM_153229.2:c.232T>C, NM_001168215.2:c.232T>C, NM_001168215.1:c.232T>C, XM_006721730.4:c.232T>C, XM_006721730.3:c.232T>C, XM_006721730.2:c.232T>C, XM_006721730.1:c.232T>C, NP_694961.2:p.Cys78Arg, NP_001161687.1:p.Cys78Arg, XP_006721793.1:p.Cys78Arg

Select item 143767704512.

rs1437677045 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:50278859 (GRCh38)
17:48356220 (GRCh37)
Canonical SPDI:: NC_000017.11:50278858:A:G
Gene:: TMEM92 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.50278859A>G, NC_000017.10:g.48356220A>G, NG_054733.1:g.12454A>G, NM_153229.3:c.229A>G, NM_153229.2:c.229A>G, NM_001168215.2:c.229A>G, NM_001168215.1:c.229A>G, XM_006721730.4:c.229A>G, XM_006721730.3:c.229A>G, XM_006721730.2:c.229A>G, XM_006721730.1:c.229A>G, NP_694961.2:p.Lys77Glu, NP_001161687.1:p.Lys77Glu, XP_006721793.1:p.Lys77Glu

Select item 143387678013.

rs1433876780 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:50279272 (GRCh38)
17:48356633 (GRCh37)
Canonical SPDI:: NC_000017.11:50279271:C:A,NC_000017.11:50279271:C:T
Gene:: TMEM92 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
A=0.000106/2 (TOMMO)
HGVS:: NC_000017.11:g.50279272C>A, NC_000017.11:g.50279272C>T, NC_000017.10:g.48356633C>A, NC_000017.10:g.48356633C>T, NG_054733.1:g.12867C>A, NG_054733.1:g.12867C>T, NM_153229.3:c.444C>A, NM_153229.3:c.444C>T, NM_153229.2:c.444C>A, NM_153229.2:c.444C>T, NM_001168215.2:c.444C>A, NM_001168215.2:c.444C>T, NM_001168215.1:c.444C>A, NM_001168215.1:c.444C>T, XM_006721730.4:c.402C>A, XM_006721730.4:c.402C>T, XM_006721730.3:c.402C>A, XM_006721730.3:c.402C>T, XM_006721730.2:c.402C>A, XM_006721730.2:c.402C>T, XM_006721730.1:c.402C>A, XM_006721730.1:c.402C>T

Select item 141281479314.

rs1412814793 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:50274533 (GRCh38)
17:48351894 (GRCh37)
Canonical SPDI:: NC_000017.11:50274532:C:T
Gene:: TMEM92 (Varview)
Functional Consequence:: missense_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)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.50274533C>T, NC_000017.10:g.48351894C>T, NG_054733.1:g.8128C>T, NM_153229.3:c.32C>T, NM_153229.2:c.32C>T, NM_001168215.2:c.32C>T, NM_001168215.1:c.32C>T, NG_080555.1:g.86C>T, XM_006721730.4:c.32C>T, XM_006721730.3:c.32C>T, XM_006721730.2:c.32C>T, XM_006721730.1:c.32C>T, NP_694961.2:p.Pro11Leu, NP_001161687.1:p.Pro11Leu, XP_006721793.1:p.Pro11Leu

Select item 140763013915.

rs1407630139 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:50279224 (GRCh38)
17:48356585 (GRCh37)
Canonical SPDI:: NC_000017.11:50279223:T:A
Gene:: TMEM92 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.50279224T>A, NC_000017.10:g.48356585T>A, NG_054733.1:g.12819T>A, NM_153229.3:c.396T>A, NM_153229.2:c.396T>A, NM_001168215.2:c.396T>A, NM_001168215.1:c.396T>A, XM_006721730.4:c.354T>A, XM_006721730.3:c.354T>A, XM_006721730.2:c.354T>A, XM_006721730.1:c.354T>A

Select item 140638278416.

rs1406382784 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:50279259 (GRCh38)
17:48356620 (GRCh37)
Canonical SPDI:: NC_000017.11:50279258:C:A,NC_000017.11:50279258:C:T
Gene:: TMEM92 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000354/6 (TOMMO)
HGVS:: NC_000017.11:g.50279259C>A, NC_000017.11:g.50279259C>T, NC_000017.10:g.48356620C>A, NC_000017.10:g.48356620C>T, NG_054733.1:g.12854C>A, NG_054733.1:g.12854C>T, NM_153229.3:c.431C>A, NM_153229.3:c.431C>T, NM_153229.2:c.431C>A, NM_153229.2:c.431C>T, NM_001168215.2:c.431C>A, NM_001168215.2:c.431C>T, NM_001168215.1:c.431C>A, NM_001168215.1:c.431C>T, XM_006721730.4:c.389C>A, XM_006721730.4:c.389C>T, XM_006721730.3:c.389C>A, XM_006721730.3:c.389C>T, XM_006721730.2:c.389C>A, XM_006721730.2:c.389C>T, XM_006721730.1:c.389C>A, XM_006721730.1:c.389C>T, NP_694961.2:p.Pro144His, NP_694961.2:p.Pro144Leu, NP_001161687.1:p.Pro144His, NP_001161687.1:p.Pro144Leu, XP_006721793.1:p.Pro130His, XP_006721793.1:p.Pro130Leu

Select item 139890472217.

rs1398904722 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:50278608 (GRCh38)
17:48355969 (GRCh37)
Canonical SPDI:: NC_000017.11:50278607:G:A
Gene:: TMEM92 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.50278608G>A, NC_000017.10:g.48355969G>A, NG_054733.1:g.12203G>A, NM_153229.3:c.148G>A, NM_153229.2:c.148G>A, NM_001168215.2:c.148G>A, NM_001168215.1:c.148G>A, XM_006721730.4:c.148G>A, XM_006721730.3:c.148G>A, XM_006721730.2:c.148G>A, XM_006721730.1:c.148G>A, NP_694961.2:p.Glu50Lys, NP_001161687.1:p.Glu50Lys, XP_006721793.1:p.Glu50Lys

Select item 139035615818.

rs1390356158 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:50278881 (GRCh38)
17:48356242 (GRCh37)
Canonical SPDI:: NC_000017.11:50278880:G:A
Gene:: TMEM92 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000017.11:g.50278881G>A, NC_000017.10:g.48356242G>A, NG_054733.1:g.12476G>A, NM_153229.3:c.251G>A, NM_153229.2:c.251G>A, NM_001168215.2:c.251G>A, NM_001168215.1:c.251G>A, XM_006721730.4:c.251G>A, XM_006721730.3:c.251G>A, XM_006721730.2:c.251G>A, XM_006721730.1:c.251G>A, NP_694961.2:p.Arg84Lys, NP_001161687.1:p.Arg84Lys, XP_006721793.1:p.Arg84Lys

Select item 137583958619.

rs1375839586 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 17:50279289 (GRCh38)
17:48356650 (GRCh37)
Canonical SPDI:: NC_000017.11:50279288:T:C,NC_000017.11:50279288:T:G
Gene:: TMEM92 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.50279289T>C, NC_000017.11:g.50279289T>G, NC_000017.10:g.48356650T>C, NC_000017.10:g.48356650T>G, NG_054733.1:g.12884T>C, NG_054733.1:g.12884T>G, NM_153229.3:c.461T>C, NM_153229.3:c.461T>G, NM_153229.2:c.461T>C, NM_153229.2:c.461T>G, NM_001168215.2:c.461T>C, NM_001168215.2:c.461T>G, NM_001168215.1:c.461T>C, NM_001168215.1:c.461T>G, XM_006721730.4:c.419T>C, XM_006721730.4:c.419T>G, XM_006721730.3:c.419T>C, XM_006721730.3:c.419T>G, XM_006721730.2:c.419T>C, XM_006721730.2:c.419T>G, XM_006721730.1:c.419T>C, XM_006721730.1:c.419T>G, NP_694961.2:p.Ile154Thr, NP_694961.2:p.Ile154Ser, NP_001161687.1:p.Ile154Thr, NP_001161687.1:p.Ile154Ser, XP_006721793.1:p.Ile140Thr, XP_006721793.1:p.Ile140Ser

Select item 136909151520.

rs1369091515 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:50279199 (GRCh38)
17:48356560 (GRCh37)
Canonical SPDI:: NC_000017.11:50279198:T:C
Gene:: TMEM92 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.50279199T>C, NC_000017.10:g.48356560T>C, NG_054733.1:g.12794T>C, NM_153229.3:c.371T>C, NM_153229.2:c.371T>C, NM_001168215.2:c.371T>C, NM_001168215.1:c.371T>C, XM_006721730.4:c.329T>C, XM_006721730.3:c.329T>C, XM_006721730.2:c.329T>C, XM_006721730.1:c.329T>C, NP_694961.2:p.Ile124Thr, NP_001161687.1:p.Ile124Thr, XP_006721793.1:p.Ile110Thr

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 159

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity