SNP Links for Protein (Select 148727345) - SNP

Links from Protein

Items: 1 to 20 of 95

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Select item 14828355661.

rs1482835566 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:44658049 (GRCh38)
21:46077966 (GRCh37)
Canonical SPDI:: NC_000021.9:44658048:T:C
Gene:: TSPEAR (Varview), KRTAP12-3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000036/5 (GnomAD)
C=0.000057/15 (TOPMED)
HGVS:: NC_000021.9:g.44658049T>C, NW_004775435.1:g.161372T>C, NG_033806.2:g.58523A>G, NG_033806.1:g.58530A>G, NC_000021.8:g.46077966T>C, NM_198697.2:c.70T>C, NP_941970.2:p.Cys24Arg

Select item 14658934762.

rs1465893476 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:44658137 (GRCh38)
21:46078054 (GRCh37)
Canonical SPDI:: NC_000021.9:44658136:C:T
Gene:: TSPEAR (Varview), KRTAP12-3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.44658137C>T, NW_004775435.1:g.161460C>T, NG_033806.2:g.58435G>A, NG_033806.1:g.58442G>A, NC_000021.8:g.46078054C>T, NM_198697.2:c.158C>T, NP_941970.2:p.Ser53Phe

Select item 14589423713.

rs1458942371 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:44658099 (GRCh38)
21:46078016 (GRCh37)
Canonical SPDI:: NC_000021.9:44658098:C:T
Gene:: TSPEAR (Varview), KRTAP12-3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000056/2 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000021.9:g.44658099C>T, NW_004775435.1:g.161422C>T, NG_033806.2:g.58473G>A, NG_033806.1:g.58480G>A, NC_000021.8:g.46078016C>T, NM_198697.2:c.120C>T

Select item 14289076824.

rs1428907682 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 21:44658088 (GRCh38)
21:46078005 (GRCh37)
Canonical SPDI:: NC_000021.9:44658087:C:A,NC_000021.9:44658087:C:T
Gene:: TSPEAR (Varview), KRTAP12-3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000021.9:g.44658088C>A, NC_000021.9:g.44658088C>T, NW_004775435.1:g.161411C>A, NW_004775435.1:g.161411C>T, NG_033806.2:g.58484G>T, NG_033806.2:g.58484G>A, NG_033806.1:g.58491G>T, NG_033806.1:g.58491G>A, NC_000021.8:g.46078005C>A, NC_000021.8:g.46078005C>T, NM_198697.2:c.109C>A, NM_198697.2:c.109C>T, NP_941970.2:p.Pro37Thr, NP_941970.2:p.Pro37Ser

Select item 14141828015.

rs1414182801 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 21:44658043 (GRCh38)
21:46077960 (GRCh37)
Canonical SPDI:: NC_000021.9:44658042:G:T
Gene:: TSPEAR (Varview), KRTAP12-3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.44658043G>T, NW_004775435.1:g.161366G>T, NG_033806.2:g.58529C>A, NG_033806.1:g.58536C>A, NC_000021.8:g.46077960G>T, NM_198697.2:c.64G>T, NP_941970.2:p.Ala22Ser

Select item 13879181816.

rs1387918181 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:44658090 (GRCh38)
21:46078007 (GRCh37)
Canonical SPDI:: NC_000021.9:44658089:C:T
Gene:: TSPEAR (Varview), KRTAP12-3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_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=0.000019/5 (TOPMED)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000021.9:g.44658090C>T, NW_004775435.1:g.161413C>T, NG_033806.2:g.58482G>A, NG_033806.1:g.58489G>A, NC_000021.8:g.46078007C>T, NM_198697.2:c.111C>T

Select item 13803908407.

rs1380390840 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:44658084 (GRCh38)
21:46078001 (GRCh37)
Canonical SPDI:: NC_000021.9:44658083:C:T
Gene:: TSPEAR (Varview), KRTAP12-3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.44658084C>T, NW_004775435.1:g.161407C>T, NG_033806.2:g.58488G>A, NG_033806.1:g.58495G>A, NC_000021.8:g.46078001C>T, NM_198697.2:c.105C>T

Select item 13688949308.

rs1368894930 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 21:44658182 (GRCh38)
21:46078099 (GRCh37)
Canonical SPDI:: NC_000021.9:44658181:C:G,NC_000021.9:44658181:C:T
Gene:: TSPEAR (Varview), KRTAP12-3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000021.9:g.44658182C>G, NC_000021.9:g.44658182C>T, NW_004775435.1:g.161505C>G, NW_004775435.1:g.161505C>T, NG_033806.2:g.58390G>C, NG_033806.2:g.58390G>A, NG_033806.1:g.58397G>C, NG_033806.1:g.58397G>A, NC_000021.8:g.46078099C>G, NC_000021.8:g.46078099C>T, NM_198697.2:c.203C>G, NM_198697.2:c.203C>T, NP_941970.2:p.Pro68Arg, NP_941970.2:p.Pro68Leu

Select item 13526421519.

rs1352642151 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 21:44658009 (GRCh38)
21:46077926 (GRCh37)
Canonical SPDI:: NC_000021.9:44658008:C:A
Gene:: TSPEAR (Varview), KRTAP12-3 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.44658009C>A, NW_004775435.1:g.161332C>A, NG_033806.2:g.58563G>T, NG_033806.1:g.58570G>T, NC_000021.8:g.46077926C>A, NM_198697.2:c.30C>A, NP_941970.2:p.Cys10Ter

Select item 134195130910.

rs1341951309 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 21:44658243 (GRCh38)
21:46078160 (GRCh37)
Canonical SPDI:: NC_000021.9:44658242:C:A,NC_000021.9:44658242:C:T
Gene:: TSPEAR (Varview), KRTAP12-3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000023/6 (TOPMED)
HGVS:: NC_000021.9:g.44658243C>A, NC_000021.9:g.44658243C>T, NW_004775435.1:g.161566C>A, NW_004775435.1:g.161566C>T, NG_033806.2:g.58329G>T, NG_033806.2:g.58329G>A, NG_033806.1:g.58336G>T, NG_033806.1:g.58336G>A, NC_000021.8:g.46078160C>A, NC_000021.8:g.46078160C>T, NM_198697.2:c.264C>A, NM_198697.2:c.264C>T

Select item 131143603711.

rs1311436037 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:44658012 (GRCh38)
21:46077929 (GRCh37)
Canonical SPDI:: NC_000021.9:44658011:G:A
Gene:: TSPEAR (Varview), KRTAP12-3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_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_000021.9:g.44658012G>A, NW_004775435.1:g.161335G>A, NG_033806.2:g.58560C>T, NG_033806.1:g.58567C>T, NC_000021.8:g.46077929G>A, NM_198697.2:c.33G>A

Select item 130067215212.

rs1300672152 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:44658269 (GRCh38)
21:46078186 (GRCh37)
Canonical SPDI:: NC_000021.9:44658268:G:A
Gene:: TSPEAR (Varview), KRTAP12-3 (Varview)
Functional Consequence:: terminator_codon_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.44658269G>A, NW_004775435.1:g.161592G>A, NG_033806.2:g.58303C>T, NG_033806.1:g.58310C>T, NC_000021.8:g.46078186G>A, NM_198697.2:c.290G>A

Select item 129867839213.

rs1298678392 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:44658162 (GRCh38)
21:46078079 (GRCh37)
Canonical SPDI:: NC_000021.9:44658161:G:A
Gene:: TSPEAR (Varview), KRTAP12-3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000021.9:g.44658162G>A, NW_004775435.1:g.161485G>A, NG_033806.2:g.58410C>T, NG_033806.1:g.58417C>T, NC_000021.8:g.46078079G>A, NM_198697.2:c.183G>A

Select item 128612779414.

rs1286127794 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:44658087 (GRCh38)
21:46078004 (GRCh37)
Canonical SPDI:: NC_000021.9:44658086:G:A
Gene:: TSPEAR (Varview), KRTAP12-3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000042/11 (TOPMED)
HGVS:: NC_000021.9:g.44658087G>A, NW_004775435.1:g.161410G>A, NG_033806.2:g.58485C>T, NG_033806.1:g.58492C>T, NC_000021.8:g.46078004G>A, NM_198697.2:c.108G>A, NP_941970.2:p.Met36Ile

Select item 127555447215.

rs1275554472 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:44658246 (GRCh38)
21:46078163 (GRCh37)
Canonical SPDI:: NC_000021.9:44658245:C:T
Gene:: TSPEAR (Varview), KRTAP12-3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.44658246C>T, NW_004775435.1:g.161569C>T, NG_033806.2:g.58326G>A, NG_033806.1:g.58333G>A, NC_000021.8:g.46078163C>T, NM_198697.2:c.267C>T

Select item 126781831916.

rs1267818319 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:44658231 (GRCh38)
21:46078148 (GRCh37)
Canonical SPDI:: NC_000021.9:44658230:C:T
Gene:: TSPEAR (Varview), KRTAP12-3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000021.9:g.44658231C>T, NW_004775435.1:g.161554C>T, NG_033806.2:g.58341G>A, NG_033806.1:g.58348G>A, NC_000021.8:g.46078148C>T, NM_198697.2:c.252C>T

Select item 126467201517.

rs1264672015 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 21:44658211 (GRCh38)
21:46078128 (GRCh37)
Canonical SPDI:: NC_000021.9:44658210:C:A,NC_000021.9:44658210:C:T
Gene:: TSPEAR (Varview), KRTAP12-3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.44658211C>A, NC_000021.9:g.44658211C>T, NW_004775435.1:g.161534C>A, NW_004775435.1:g.161534C>T, NG_033806.2:g.58361G>T, NG_033806.2:g.58361G>A, NG_033806.1:g.58368G>T, NG_033806.1:g.58368G>A, NC_000021.8:g.46078128C>A, NC_000021.8:g.46078128C>T, NM_198697.2:c.232C>A, NM_198697.2:c.232C>T, NP_941970.2:p.Pro78Thr, NP_941970.2:p.Pro78Ser

Select item 124709090718.

rs1247090907 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:44658122 (GRCh38)
21:46078039 (GRCh37)
Canonical SPDI:: NC_000021.9:44658121:C:T
Gene:: TSPEAR (Varview), KRTAP12-3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000021.9:g.44658122C>T, NW_004775435.1:g.161445C>T, NG_033806.2:g.58450G>A, NG_033806.1:g.58457G>A, NC_000021.8:g.46078039C>T, NM_198697.2:c.143C>T, NP_941970.2:p.Pro48Leu

Select item 123765073719.

rs1237650737 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 21:44658054 (GRCh38)
21:46077971 (GRCh37)
Canonical SPDI:: NC_000021.9:44658053:T:C,NC_000021.9:44658053:T:G
Gene:: TSPEAR (Varview), KRTAP12-3 (Varview)
Functional Consequence:: synonymous_variant,stop_gained,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.44658054T>C, NC_000021.9:g.44658054T>G, NW_004775435.1:g.161377T>C, NW_004775435.1:g.161377T>G, NG_033806.2:g.58518A>G, NG_033806.2:g.58518A>C, NG_033806.1:g.58525A>G, NG_033806.1:g.58525A>C, NC_000021.8:g.46077971T>C, NC_000021.8:g.46077971T>G, NM_198697.2:c.75T>C, NM_198697.2:c.75T>G, NP_941970.2:p.Tyr25Ter

Select item 123089829420.

rs1230898294 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:44658260 (GRCh38)
21:46078177 (GRCh37)
Canonical SPDI:: NC_000021.9:44658259:C:T
Gene:: TSPEAR (Varview), KRTAP12-3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.44658260C>T, NW_004775435.1:g.161583C>T, NG_033806.2:g.58312G>A, NG_033806.1:g.58319G>A, NC_000021.8:g.46078177C>T, NM_198697.2:c.281C>T, NP_941970.2:p.Ser94Phe

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