SNP Links for Protein (Select 261337146) - SNP

Links from Protein

Items: 1 to 20 of 253

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Select item 14896237411.

rs1489623741 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:35231522 (GRCh38)
7:35271134 (GRCh37)
Canonical SPDI:: NC_000007.14:35231521:C:T
Gene:: TBX20 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.35231522C>T, NC_000007.13:g.35271134C>T, NG_015805.1:g.27578G>A, NM_001077653.2:c.872G>A, NM_001166220.1:c.872G>A, XM_017012456.2:c.275G>A, XM_017012456.1:c.275G>A, NM_020417.1:c.872G>A, NP_001071121.1:p.Arg291Lys, NP_001159692.1:p.Arg291Lys, XP_016867945.1:p.Arg92Lys

Select item 14890782232.

rs1489078223 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:35250155 (GRCh38)
7:35289767 (GRCh37)
Canonical SPDI:: NC_000007.14:35250154:G:T
Gene:: TBX20 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.35250155G>T, NC_000007.13:g.35289767G>T, NG_015805.1:g.8945C>A, NM_001077653.2:c.176C>A, NM_001166220.1:c.176C>A, NM_020417.1:c.176C>A, NP_001071121.1:p.Thr59Asn, NP_001159692.1:p.Thr59Asn

Select item 14880099393.

rs1488009939 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:35248713 (GRCh38)
7:35288325 (GRCh37)
Canonical SPDI:: NC_000007.14:35248712:A:T
Gene:: TBX20 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.35248713A>T, NC_000007.13:g.35288325A>T, NG_015805.1:g.10387T>A, NM_001077653.2:c.509T>A, NM_001166220.1:c.509T>A, NM_020417.1:c.509T>A, NP_001071121.1:p.Leu170Gln, NP_001159692.1:p.Leu170Gln

Select item 14872814824.

rs1487281482 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:35253564 (GRCh38)
7:35293175 (GRCh37)
Canonical SPDI:: NC_000007.14:35253563:G:A
Gene:: TBX20 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.35253564G>A, NC_000007.13:g.35293175G>A, NG_015805.1:g.5537C>T, NM_001077653.2:c.57C>T, NM_001166220.1:c.57C>T, NM_020417.1:c.57C>T

Select item 14832234155.

rs1483223415 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:35240940 (GRCh38)
7:35280552 (GRCh37)
Canonical SPDI:: NC_000007.14:35240939:A:C
Gene:: TBX20 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.35240940A>C, NC_000007.13:g.35280552A>C, NG_015805.1:g.18160T>G, NM_001077653.2:c.752T>G, NM_001166220.1:c.752T>G, XM_017012456.2:c.155T>G, XM_017012456.1:c.155T>G, NM_020417.1:c.752T>G, NP_001071121.1:p.Phe251Cys, NP_001159692.1:p.Phe251Cys, XP_016867945.1:p.Phe52Cys

Select item 14754701826.

rs1475470182 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:35248825 (GRCh38)
7:35288437 (GRCh37)
Canonical SPDI:: NC_000007.14:35248824:T:G
Gene:: TBX20 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.35248825T>G, NC_000007.13:g.35288437T>G, NG_015805.1:g.10275A>C, NM_001077653.2:c.397A>C, NM_001166220.1:c.397A>C, NM_020417.1:c.397A>C, NP_001071121.1:p.Ile133Leu, NP_001159692.1:p.Ile133Leu

Select item 14747806707.

rs1474780670 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:35245051 (GRCh38)
7:35284663 (GRCh37)
Canonical SPDI:: NC_000007.14:35245050:A:G
Gene:: TBX20 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.35245051A>G, NC_000007.13:g.35284663A>G, NG_015805.1:g.14049T>C, NM_001077653.2:c.552T>C, NM_001166220.1:c.552T>C, XM_017012456.2:c.-46T>C, XM_017012456.1:c.-46T>C, NM_020417.1:c.552T>C

Select item 14739029718.

rs1473902971 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:35245043 (GRCh38)
7:35284655 (GRCh37)
Canonical SPDI:: NC_000007.14:35245042:G:A
Gene:: TBX20 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_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_000007.14:g.35245043G>A, NC_000007.13:g.35284655G>A, NG_015805.1:g.14057C>T, NM_001077653.2:c.560C>T, NM_001166220.1:c.560C>T, XM_017012456.2:c.-38C>T, XM_017012456.1:c.-38C>T, NM_020417.1:c.560C>T, NP_001071121.1:p.Pro187Leu, NP_001159692.1:p.Pro187Leu

Select item 14695187339.

rs1469518733 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:35245021 (GRCh38)
7:35284633 (GRCh37)
Canonical SPDI:: NC_000007.14:35245020:C:T
Gene:: TBX20 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0.000031/1 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.35245021C>T, NC_000007.13:g.35284633C>T, NG_015805.1:g.14079G>A, NM_001077653.2:c.582G>A, NM_001166220.1:c.582G>A, XM_017012456.2:c.-16G>A, XM_017012456.1:c.-16G>A, NM_020417.1:c.582G>A

Select item 146905624110.

rs1469056241 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:35231566 (GRCh38)
7:35271178 (GRCh37)
Canonical SPDI:: NC_000007.14:35231565:T:C
Gene:: TBX20 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000015/4 (TOPMED)
C=0.00002/5 (GnomAD_exomes)
C=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.35231566T>C, NC_000007.13:g.35271178T>C, NG_015805.1:g.27534A>G, NM_001077653.2:c.828A>G, NM_001166220.1:c.828A>G, XM_017012456.2:c.231A>G, XM_017012456.1:c.231A>G, NM_020417.1:c.828A>G

Select item 146520788811.

rs1465207888 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:35253603 (GRCh38)
7:35293214 (GRCh37)
Canonical SPDI:: NC_000007.14:35253602:G:A,NC_000007.14:35253602:G:C
Gene:: TBX20 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000007.14:g.35253603G>A, NC_000007.14:g.35253603G>C, NC_000007.13:g.35293214G>A, NC_000007.13:g.35293214G>C, NG_015805.1:g.5498C>T, NG_015805.1:g.5498C>G, NM_001077653.2:c.18C>T, NM_001077653.2:c.18C>G, NM_001166220.1:c.18C>T, NM_001166220.1:c.18C>G, NM_020417.1:c.18C>T, NM_020417.1:c.18C>G

Select item 146323790512.

rs1463237905 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:35245054 (GRCh38)
7:35284666 (GRCh37)
Canonical SPDI:: NC_000007.14:35245053:G:A,NC_000007.14:35245053:G:C
Gene:: TBX20 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,5_prime_UTR_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000051/1 (ALFA)
C=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.35245054G>A, NC_000007.14:g.35245054G>C, NC_000007.13:g.35284666G>A, NC_000007.13:g.35284666G>C, NG_015805.1:g.14046C>T, NG_015805.1:g.14046C>G, NM_001077653.2:c.549C>T, NM_001077653.2:c.549C>G, NM_001166220.1:c.549C>T, NM_001166220.1:c.549C>G, XM_017012456.2:c.-49C>T, XM_017012456.2:c.-49C>G, XM_017012456.1:c.-49C>T, XM_017012456.1:c.-49C>G, NM_020417.1:c.549C>T, NM_020417.1:c.549C>G

Select item 144981391413.

rs1449813914 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:35244973 (GRCh38)
7:35284585 (GRCh37)
Canonical SPDI:: NC_000007.14:35244972:G:C
Gene:: TBX20 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.35244973G>C, NC_000007.13:g.35284585G>C, NG_015805.1:g.14127C>G, NM_001077653.2:c.630C>G, NM_001166220.1:c.630C>G, XM_017012456.2:c.33C>G, XM_017012456.1:c.33C>G, NM_020417.1:c.630C>G, NP_001071121.1:p.Asn210Lys, NP_001159692.1:p.Asn210Lys, XP_016867945.1:p.Asn11Lys

Select item 144841305014.

rs1448413050 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:35231559 (GRCh38)
7:35271171 (GRCh37)
Canonical SPDI:: NC_000007.14:35231558:T:G
Gene:: TBX20 (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=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.35231559T>G, NC_000007.13:g.35271171T>G, NG_015805.1:g.27541A>C, NM_001077653.2:c.835A>C, NM_001166220.1:c.835A>C, XM_017012456.2:c.238A>C, XM_017012456.1:c.238A>C, NM_020417.1:c.835A>C, NP_001071121.1:p.Ser279Arg, NP_001159692.1:p.Ser279Arg, XP_016867945.1:p.Ser80Arg

Select item 144325745115.

rs1443257451 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:35244957 (GRCh38)
7:35284569 (GRCh37)
Canonical SPDI:: NC_000007.14:35244956:G:A
Gene:: TBX20 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.35244957G>A, NC_000007.13:g.35284569G>A, NG_015805.1:g.14143C>T, NM_001077653.2:c.646C>T, NM_001166220.1:c.646C>T, XM_017012456.2:c.49C>T, XM_017012456.1:c.49C>T, NM_020417.1:c.646C>T, NP_001071121.1:p.His216Tyr, NP_001159692.1:p.His216Tyr, XP_016867945.1:p.His17Tyr

Select item 144308574216.

rs1443085742 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:35250086 (GRCh38)
7:35289698 (GRCh37)
Canonical SPDI:: NC_000007.14:35250085:G:T
Gene:: TBX20 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.35250086G>T, NC_000007.13:g.35289698G>T, NG_015805.1:g.9014C>A, NM_001077653.2:c.245C>A, NM_001166220.1:c.245C>A, NM_020417.1:c.245C>A, NP_001071121.1:p.Thr82Asn, NP_001159692.1:p.Thr82Asn

Select item 143598288317.

rs1435982883 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 7:35240992 (GRCh38)
7:35280604 (GRCh37)
Canonical SPDI:: NC_000007.14:35240991:T:A,NC_000007.14:35240991:T:C
Gene:: TBX20 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000031/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.35240992T>A, NC_000007.14:g.35240992T>C, NC_000007.13:g.35280604T>A, NC_000007.13:g.35280604T>C, NG_015805.1:g.18108A>T, NG_015805.1:g.18108A>G, NM_001077653.2:c.700A>T, NM_001077653.2:c.700A>G, NM_001166220.1:c.700A>T, NM_001166220.1:c.700A>G, XM_017012456.2:c.103A>T, XM_017012456.2:c.103A>G, XM_017012456.1:c.103A>T, XM_017012456.1:c.103A>G, NM_020417.1:c.700A>T, NM_020417.1:c.700A>G, NP_001071121.1:p.Ile234Phe, NP_001071121.1:p.Ile234Val, NP_001159692.1:p.Ile234Phe, NP_001159692.1:p.Ile234Val, XP_016867945.1:p.Ile35Phe, XP_016867945.1:p.Ile35Val

Select item 143412334918.

rs1434123349 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:35248736 (GRCh38)
7:35288348 (GRCh37)
Canonical SPDI:: NC_000007.14:35248735:G:A
Gene:: TBX20 (Varview)
Functional Consequence:: upstream_transcript_variant,synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.35248736G>A, NC_000007.13:g.35288348G>A, NG_015805.1:g.10364C>T, NM_001077653.2:c.486C>T, NM_001166220.1:c.486C>T, NM_020417.1:c.486C>T

Select item 142946644419.

rs1429466444 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:35231518 (GRCh38)
7:35271130 (GRCh37)
Canonical SPDI:: NC_000007.14:35231517:G:A
Gene:: TBX20 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.35231518G>A, NC_000007.13:g.35271130G>A, NG_015805.1:g.27582C>T, NM_001077653.2:c.876C>T, NM_001166220.1:c.876C>T, XM_017012456.2:c.279C>T, XM_017012456.1:c.279C>T, NM_020417.1:c.876C>T

Select item 142939736920.

rs1429397369 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:35249982 (GRCh38)
7:35289594 (GRCh37)
Canonical SPDI:: NC_000007.14:35249981:C:T
Gene:: TBX20 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.35249982C>T, NC_000007.13:g.35289594C>T, NG_015805.1:g.9118G>A, NM_001077653.2:c.349G>A, NM_001166220.1:c.349G>A, NM_020417.1:c.349G>A, NP_001071121.1:p.Gly117Ser, NP_001159692.1:p.Gly117Ser

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