SNP Links for Protein (Select 238859649) - SNP

Links from Protein

Items: 1 to 20 of 249

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Select item 14811081161.

rs1481108116 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:44612402 (GRCh38)
21:46032319 (GRCh37)
Canonical SPDI:: NC_000021.9:44612401:A:G
Gene:: TSPEAR (Varview), KRTAP10-8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.44612402A>G, NW_004775435.1:g.115725A>G, NG_033806.2:g.104170T>C, NG_033806.1:g.104177T>C, NC_000021.8:g.46032319A>G, NM_198695.2:c.302A>G, NP_941968.2:p.Gln101Arg

Select item 14807842392.

rs1480784239 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:44612766 (GRCh38)
21:46032683 (GRCh37)
Canonical SPDI:: NC_000021.9:44612765:T:C
Gene:: TSPEAR (Varview), KRTAP10-8 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.44612766T>C, NW_004775435.1:g.116089T>C, NG_033806.2:g.103806A>G, NG_033806.1:g.103813A>G, NC_000021.8:g.46032683T>C, NM_198695.2:c.666T>C

Select item 14709011463.

rs1470901146 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:44612464 (GRCh38)
21:46032381 (GRCh37)
Canonical SPDI:: NC_000021.9:44612463:G:A
Gene:: TSPEAR (Varview), KRTAP10-8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.44612464G>A, NW_004775435.1:g.115787G>A, NG_033806.2:g.104108C>T, NG_033806.1:g.104115C>T, NC_000021.8:g.46032381G>A, NM_198695.2:c.364G>A, NP_941968.2:p.Val122Met

Select item 14613156094.

rs1461315609 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:44612321 (GRCh38)
21:46032238 (GRCh37)
Canonical SPDI:: NC_000021.9:44612320:T:C
Gene:: TSPEAR (Varview), KRTAP10-8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000021.9:g.44612321T>C, NW_004775435.1:g.115644T>C, NG_033806.2:g.104251A>G, NG_033806.1:g.104258A>G, NC_000021.8:g.46032238T>C, NM_198695.2:c.221T>C, NP_941968.2:p.Leu74Pro

Select item 14545746935.

rs1454574693 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:44612520 (GRCh38)
21:46032437 (GRCh37)
Canonical SPDI:: NC_000021.9:44612519:A:G
Gene:: TSPEAR (Varview), KRTAP10-8 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.44612520A>G, NW_004775435.1:g.115843A>G, NG_033806.2:g.104052T>C, NG_033806.1:g.104059T>C, NC_000021.8:g.46032437A>G, NM_198695.2:c.420A>G

Select item 14374325086.

rs1437432508 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:44612776 (GRCh38)
21:46032693 (GRCh37)
Canonical SPDI:: NC_000021.9:44612775:C:T
Gene:: TSPEAR (Varview), KRTAP10-8 (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.44612776C>T, NW_004775435.1:g.116099C>T, NG_033806.2:g.103796G>A, NG_033806.1:g.103803G>A, NC_000021.8:g.46032693C>T, NM_198695.2:c.676C>T, NP_941968.2:p.Pro226Ser

Select item 14284415877.

rs1428441587 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 21:44612373 (GRCh38)
21:46032290 (GRCh37)
Canonical SPDI:: NC_000021.9:44612372:C:A,NC_000021.9:44612372:C:G,NC_000021.9:44612372:C:T
Gene:: TSPEAR (Varview), KRTAP10-8 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000036/1 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000021.9:g.44612373C>A, NC_000021.9:g.44612373C>G, NC_000021.9:g.44612373C>T, NW_004775435.1:g.115696C>A, NW_004775435.1:g.115696C>G, NW_004775435.1:g.115696C>T, NG_033806.2:g.104199G>T, NG_033806.2:g.104199G>C, NG_033806.2:g.104199G>A, NG_033806.1:g.104206G>T, NG_033806.1:g.104206G>C, NG_033806.1:g.104206G>A, NC_000021.8:g.46032290C>A, NC_000021.8:g.46032290C>G, NC_000021.8:g.46032290C>T, NM_198695.2:c.273C>A, NM_198695.2:c.273C>G, NM_198695.2:c.273C>T

Select item 14268607138.

rs1426860713 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 21:44612205 (GRCh38)
21:46032122 (GRCh37)
Canonical SPDI:: NC_000021.9:44612204:C:G
Gene:: TSPEAR (Varview), KRTAP10-8 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_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_000021.9:g.44612205C>G, NW_004775435.1:g.115528C>G, NG_033806.2:g.104367G>C, NG_033806.1:g.104374G>C, NC_000021.8:g.46032122C>G, NM_198695.2:c.105C>G

Select item 14133881239.

rs1413388123 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 21:44612119 (GRCh38)
21:46032036 (GRCh37)
Canonical SPDI:: NC_000021.9:44612118:A:C,NC_000021.9:44612118:A:G
Gene:: TSPEAR (Varview), KRTAP10-8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000021/3 (GnomAD)
HGVS:: NC_000021.9:g.44612119A>C, NC_000021.9:g.44612119A>G, NW_004775435.1:g.115442A>C, NW_004775435.1:g.115442A>G, NG_033806.2:g.104453T>G, NG_033806.2:g.104453T>C, NG_033806.1:g.104460T>G, NG_033806.1:g.104460T>C, NC_000021.8:g.46032036A>C, NC_000021.8:g.46032036A>G, NM_198695.2:c.19A>C, NM_198695.2:c.19A>G, NP_941968.2:p.Thr7Pro, NP_941968.2:p.Thr7Ala

Select item 140768240110.

rs1407682401 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:44612815 (GRCh38)
21:46032732 (GRCh37)
Canonical SPDI:: NC_000021.9:44612814:T:C
Gene:: TSPEAR (Varview), KRTAP10-8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_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_000021.9:g.44612815T>C, NW_004775435.1:g.116138T>C, NG_033806.2:g.103757A>G, NG_033806.1:g.103764A>G, NC_000021.8:g.46032732T>C, NM_198695.2:c.715T>C, NP_941968.2:p.Cys239Arg

Select item 140758985111.

rs1407589851 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:44612748 (GRCh38)
21:46032665 (GRCh37)
Canonical SPDI:: NC_000021.9:44612747:G:A
Gene:: TSPEAR (Varview), KRTAP10-8 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_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_000021.9:g.44612748G>A, NW_004775435.1:g.116071G>A, NG_033806.2:g.103824C>T, NG_033806.1:g.103831C>T, NC_000021.8:g.46032665G>A, NM_198695.2:c.648G>A

Select item 140529974212.

rs1405299742 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 21:44612457 (GRCh38)
21:46032374 (GRCh37)
Canonical SPDI:: NC_000021.9:44612456:T:G
Gene:: TSPEAR (Varview), KRTAP10-8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000021.9:g.44612457T>G, NW_004775435.1:g.115780T>G, NG_033806.2:g.104115A>C, NG_033806.1:g.104122A>C, NC_000021.8:g.46032374T>G, NM_198695.2:c.357T>G, NP_941968.2:p.Cys119Trp

Select item 139222380013.

rs1392223800 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 21:44612450 (GRCh38)
21:46032367 (GRCh37)
Canonical SPDI:: NC_000021.9:44612449:C:A,NC_000021.9:44612449:C:T
Gene:: TSPEAR (Varview), KRTAP10-8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.44612450C>A, NC_000021.9:g.44612450C>T, NW_004775435.1:g.115773C>A, NW_004775435.1:g.115773C>T, NG_033806.2:g.104122G>T, NG_033806.2:g.104122G>A, NG_033806.1:g.104129G>T, NG_033806.1:g.104129G>A, NC_000021.8:g.46032367C>A, NC_000021.8:g.46032367C>T, NM_198695.2:c.350C>A, NM_198695.2:c.350C>T, NP_941968.2:p.Ala117Asp, NP_941968.2:p.Ala117Val

Select item 138634836814.

rs1386348368 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 21:44612527 (GRCh38)
21:46032444 (GRCh37)
Canonical SPDI:: NC_000021.9:44612526:T:A,NC_000021.9:44612526:T:C
Gene:: TSPEAR (Varview), KRTAP10-8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
C=0.001099/2 (Korea1K)
HGVS:: NC_000021.9:g.44612527T>A, NC_000021.9:g.44612527T>C, NW_004775435.1:g.115850T>A, NW_004775435.1:g.115850T>C, NG_033806.2:g.104045A>T, NG_033806.2:g.104045A>G, NG_033806.1:g.104052A>T, NG_033806.1:g.104052A>G, NC_000021.8:g.46032444T>A, NC_000021.8:g.46032444T>C, NM_198695.2:c.427T>A, NM_198695.2:c.427T>C, NP_941968.2:p.Ser143Thr, NP_941968.2:p.Ser143Pro

Select item 136893048115.

rs1368930481 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:44612213 (GRCh38)
21:46032130 (GRCh37)
Canonical SPDI:: NC_000021.9:44612212:G:A
Gene:: TSPEAR (Varview), KRTAP10-8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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.44612213G>A, NW_004775435.1:g.115536G>A, NG_033806.2:g.104359C>T, NG_033806.1:g.104366C>T, NC_000021.8:g.46032130G>A, NM_198695.2:c.113G>A, NP_941968.2:p.Gly38Asp

Select item 136579742216.

rs1365797422 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 21:44612671 (GRCh38)
21:46032588 (GRCh37)
Canonical SPDI:: NC_000021.9:44612670:T:G
Gene:: TSPEAR (Varview), KRTAP10-8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000021.9:g.44612671T>G, NW_004775435.1:g.115994T>G, NG_033806.2:g.103901A>C, NG_033806.1:g.103908A>C, NC_000021.8:g.46032588T>G, NM_198695.2:c.571T>G, NP_941968.2:p.Ser191Ala

Select item 136042943817.

rs1360429438 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:44612597 (GRCh38)
21:46032514 (GRCh37)
Canonical SPDI:: NC_000021.9:44612596:G:A
Gene:: TSPEAR (Varview), KRTAP10-8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.44612597G>A, NW_004775435.1:g.115920G>A, NG_033806.2:g.103975C>T, NG_033806.1:g.103982C>T, NC_000021.8:g.46032514G>A, NM_198695.2:c.497G>A, NP_941968.2:p.Cys166Tyr

Select item 133710846218.

rs1337108462 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 21:44612513 (GRCh38)
21:46032430 (GRCh37)
Canonical SPDI:: NC_000021.9:44612512:G:A,NC_000021.9:44612512:G:T
Gene:: TSPEAR (Varview), KRTAP10-8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.44612513G>A, NC_000021.9:g.44612513G>T, NW_004775435.1:g.115836G>A, NW_004775435.1:g.115836G>T, NG_033806.2:g.104059C>T, NG_033806.2:g.104059C>A, NG_033806.1:g.104066C>T, NG_033806.1:g.104066C>A, NC_000021.8:g.46032430G>A, NC_000021.8:g.46032430G>T, NM_198695.2:c.413G>A, NM_198695.2:c.413G>T, NP_941968.2:p.Cys138Tyr, NP_941968.2:p.Cys138Phe

Select item 133659546819.

rs1336595468 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 21:44612828 (GRCh38)
21:46032745 (GRCh37)
Canonical SPDI:: NC_000021.9:44612827:C:A,NC_000021.9:44612827:C:T
Gene:: TSPEAR (Varview), KRTAP10-8 (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=0.000015/4 (TOPMED)
HGVS:: NC_000021.9:g.44612828C>A, NC_000021.9:g.44612828C>T, NW_004775435.1:g.116151C>A, NW_004775435.1:g.116151C>T, NG_033806.2:g.103744G>T, NG_033806.2:g.103744G>A, NG_033806.1:g.103751G>T, NG_033806.1:g.103751G>A, NC_000021.8:g.46032745C>A, NC_000021.8:g.46032745C>T, NM_198695.2:c.728C>A, NM_198695.2:c.728C>T, NP_941968.2:p.Ala243Asp, NP_941968.2:p.Ala243Val

Select item 132812561620.

rs1328125616 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:44612727 (GRCh38)
21:46032644 (GRCh37)
Canonical SPDI:: NC_000021.9:44612726:G:A
Gene:: TSPEAR (Varview), KRTAP10-8 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.44612727G>A, NW_004775435.1:g.116050G>A, NG_033806.2:g.103845C>T, NG_033806.1:g.103852C>T, NC_000021.8:g.46032644G>A, NM_198695.2:c.627G>A

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