SNP Links for Protein (Select 46250735) - SNP

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:44550883 (GRCh38)
21:45970766 (GRCh37)
Canonical SPDI:: NC_000021.9:44550882:G:A
Gene:: TSPEAR (Varview), KRTAP10-2 (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 (TOPMED)
A=0.000011/1 (GnomAD)
HGVS:: NC_000021.9:g.44550883G>A, NW_004775435.1:g.54206G>A, NG_033806.2:g.165689C>T, NG_033806.1:g.165696C>T, NC_000021.8:g.45970766G>A, NM_198693.4:c.576C>T, NM_198693.3:c.576C>T, NM_198693.2:c.576C>T

Select item 14644345467.

rs1464434546 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 21:44550821 (GRCh38)
21:45970704 (GRCh37)
Canonical SPDI:: NC_000021.9:44550820:G:T
Gene:: TSPEAR (Varview), KRTAP10-2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.44550821G>T, NW_004775435.1:g.54144G>T, NG_033806.2:g.165751C>A, NG_033806.1:g.165758C>A, NC_000021.8:g.45970704G>T, NM_198693.4:c.638C>A, NM_198693.3:c.638C>A, NM_198693.2:c.638C>A, NP_941966.1:p.Ser213Tyr

Select item 14638710308.

rs1463871030 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:44551009 (GRCh38)
21:45970892 (GRCh37)
Canonical SPDI:: NC_000021.9:44551008:G:A
Gene:: TSPEAR (Varview), KRTAP10-2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.44551009G>A, NW_004775435.1:g.54332G>A, NG_033806.2:g.165563C>T, NG_033806.1:g.165570C>T, NC_000021.8:g.45970892G>A, NM_198693.4:c.450C>T, NM_198693.3:c.450C>T, NM_198693.2:c.450C>T

Select item 14595859089.

rs1459585908 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:44550743 (GRCh38)
21:45970626 (GRCh37)
Canonical SPDI:: NC_000021.9:44550742:C:T
Gene:: TSPEAR (Varview), KRTAP10-2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000012/3 (GnomAD_exomes)
T=0.000019/5 (TOPMED)
HGVS:: NC_000021.9:g.44550743C>T, NW_004775435.1:g.54066C>T, NG_033806.2:g.165829G>A, NG_033806.1:g.165836G>A, NC_000021.8:g.45970626C>T, NM_198693.4:c.716G>A, NM_198693.3:c.716G>A, NM_198693.2:c.716G>A, NP_941966.1:p.Cys239Tyr

Select item 144801620210.

rs1448016202 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>- [Show Flanks]
Chromosome:: 21:44551124 (GRCh38)
21:45971007 (GRCh37)
Canonical SPDI:: NC_000021.9:44551122:GGG:G
Gene:: TSPEAR (Varview), KRTAP10-2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.44551124_44551125del, NW_004775435.1:g.54447_54448del, NG_033806.2:g.165448_165449del, NG_033806.1:g.165455_165456del, NC_000021.8:g.45971007_45971008del, NM_198693.4:c.335_336del, NM_198693.3:c.335_336del, NM_198693.2:c.335_336del, NP_941966.1:p.Pro112fs

Select item 144759990911.

rs1447599909 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:44550935 (GRCh38)
21:45970818 (GRCh37)
Canonical SPDI:: NC_000021.9:44550934:G:A
Gene:: TSPEAR (Varview), KRTAP10-2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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.44550935G>A, NW_004775435.1:g.54258G>A, NG_033806.2:g.165637C>T, NG_033806.1:g.165644C>T, NC_000021.8:g.45970818G>A, NM_198693.4:c.524C>T, NM_198693.3:c.524C>T, NM_198693.2:c.524C>T, NP_941966.1:p.Ser175Phe

Select item 143142401412.

rs1431424014 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:44551084 (GRCh38)
21:45970967 (GRCh37)
Canonical SPDI:: NC_000021.9:44551083:G:A
Gene:: TSPEAR (Varview), KRTAP10-2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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.44551084G>A, NW_004775435.1:g.54407G>A, NG_033806.2:g.165488C>T, NG_033806.1:g.165495C>T, NC_000021.8:g.45970967G>A, NM_198693.4:c.375C>T, NM_198693.3:c.375C>T, NM_198693.2:c.375C>T

Select item 142367924613.

rs1423679246 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 21:44551177 (GRCh38)
21:45971060 (GRCh37)
Canonical SPDI:: NC_000021.9:44551176:G:A,NC_000021.9:44551176:G:C,NC_000021.9:44551176:G:T
Gene:: TSPEAR (Varview), KRTAP10-2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.01095/32 (KOREAN)
HGVS:: NC_000021.9:g.44551177G>A, NC_000021.9:g.44551177G>C, NC_000021.9:g.44551177G>T, NW_004775435.1:g.54500G>A, NW_004775435.1:g.54500G>C, NW_004775435.1:g.54500G>T, NG_033806.2:g.165395C>T, NG_033806.2:g.165395C>G, NG_033806.2:g.165395C>A, NG_033806.1:g.165402C>T, NG_033806.1:g.165402C>G, NG_033806.1:g.165402C>A, NC_000021.8:g.45971060G>A, NC_000021.8:g.45971060G>C, NC_000021.8:g.45971060G>T, NM_198693.4:c.282C>T, NM_198693.4:c.282C>G, NM_198693.4:c.282C>A, NM_198693.3:c.282C>T, NM_198693.3:c.282C>G, NM_198693.3:c.282C>A, NM_198693.2:c.282C>T, NM_198693.2:c.282C>G, NM_198693.2:c.282C>A

Select item 141250693114.

rs1412506931 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:44550874 (GRCh38)
21:45970757 (GRCh37)
Canonical SPDI:: NC_000021.9:44550873:G:A
Gene:: TSPEAR (Varview), KRTAP10-2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.44550874G>A, NW_004775435.1:g.54197G>A, NG_033806.2:g.165698C>T, NG_033806.1:g.165705C>T, NC_000021.8:g.45970757G>A, NM_198693.4:c.585C>T, NM_198693.3:c.585C>T, NM_198693.2:c.585C>T

Select item 141205156615.

rs1412051566 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 21:44551175 (GRCh38)
21:45971058 (GRCh37)
Canonical SPDI:: NC_000021.9:44551174:C:A
Gene:: TSPEAR (Varview), KRTAP10-2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000021.9:g.44551175C>A, NW_004775435.1:g.54498C>A, NG_033806.2:g.165397G>T, NG_033806.1:g.165404G>T, NC_000021.8:g.45971058C>A, NM_198693.4:c.284G>T, NM_198693.3:c.284G>T, NM_198693.2:c.284G>T, NP_941966.1:p.Cys95Phe

Select item 140958832916.

rs1409588329 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 21:44550986 (GRCh38)
21:45970869 (GRCh37)
Canonical SPDI:: NC_000021.9:44550985:G:T
Gene:: TSPEAR (Varview), KRTAP10-2 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.44550986G>T, NW_004775435.1:g.54309G>T, NG_033806.2:g.165586C>A, NG_033806.1:g.165593C>A, NC_000021.8:g.45970869G>T, NM_198693.4:c.473C>A, NM_198693.3:c.473C>A, NM_198693.2:c.473C>A, NP_941966.1:p.Ser158Ter

Select item 140904034517.

rs1409040345 has merged into rs869292741 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCTTGCAGCAGACGG>-,GCTTGCAGCAGACGGCTTGCAGCAGACGG [Show Flanks]
Chromosome:: 21:44550891 (GRCh38)
21:45970774 (GRCh37)
Canonical SPDI:: NC_000021.9:44550889:GGCTTGCAGCAGACGG:G,NC_000021.9:44550889:GGCTTGCAGCAGACGG:GGCTTGCAGCAGACGGCTTGCAGCAGACGG
Gene:: TSPEAR (Varview), KRTAP10-2 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant,frameshift_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.44550891_44550905del, NC_000021.9:g.44550892_44550905dup, NW_004775435.1:g.54214_54228del, NW_004775435.1:g.54215_54228dup, NG_033806.2:g.165668_165682del, NG_033806.2:g.165669_165682dup, NG_033806.1:g.165675_165689del, NG_033806.1:g.165676_165689dup, NC_000021.8:g.45970774_45970788del, NC_000021.8:g.45970775_45970788dup, NM_198693.4:c.555_569del, NM_198693.4:c.556_569dup, NM_198693.3:c.555_569del, NM_198693.3:c.556_569dup, NM_198693.2:c.555_569del, NM_198693.2:c.556_569dup, NP_941966.1:p.Pro190_Lys194del, NP_941966.1:p.Val191fs

Select item 140890883118.

rs1408908831 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:44551327 (GRCh38)
21:45971210 (GRCh37)
Canonical SPDI:: NC_000021.9:44551326:G:A
Gene:: TSPEAR (Varview), KRTAP10-2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000021.9:g.44551327G>A, NW_004775435.1:g.54650G>A, NG_033806.2:g.165245C>T, NG_033806.1:g.165252C>T, NC_000021.8:g.45971210G>A, NM_198693.4:c.132C>T, NM_198693.3:c.132C>T, NM_198693.2:c.132C>T

Select item 140754936019.

rs1407549360 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:44551207 (GRCh38)
21:45971090 (GRCh37)
Canonical SPDI:: NC_000021.9:44551206:G:A
Gene:: TSPEAR (Varview), KRTAP10-2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000021.9:g.44551207G>A, NW_004775435.1:g.54530G>A, NG_033806.2:g.165365C>T, NG_033806.1:g.165372C>T, NC_000021.8:g.45971090G>A, NM_198693.4:c.252C>T, NM_198693.3:c.252C>T, NM_198693.2:c.252C>T

Select item 140075312420.

rs1400753124 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 21:44550985 (GRCh38)
21:45970868 (GRCh37)
Canonical SPDI:: NC_000021.9:44550984:T:A
Gene:: TSPEAR (Varview), KRTAP10-2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000021.9:g.44550985T>A, NW_004775435.1:g.54308T>A, NG_033806.2:g.165587A>T, NG_033806.1:g.165594A>T, NC_000021.8:g.45970868T>A, NM_198693.4:c.474A>T, NM_198693.3:c.474A>T, NM_198693.2:c.474A>T

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