SNP Links for Protein (Select 4507241) - SNP

Links from Protein

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Select item 14887198081.

rs1488719808 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:57334496 (GRCh38)
11:57101970 (GRCh37)
Canonical SPDI:: NC_000011.10:57334495:G:A
Gene:: P2RX3 (Varview), SSRP1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.57334496G>A, NC_000011.9:g.57101970G>A, NM_003146.3:c.207C>T, NM_003146.2:c.207C>T, XM_017018180.2:c.705C>T, XM_017018180.1:c.609C>T, XM_047427498.1:c.207C>T, XM_047427499.1:c.705C>T

Select item 14870868282.

rs1487086828 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 11:57333127 (GRCh38)
11:57100601 (GRCh37)
Canonical SPDI:: NC_000011.10:57333126:A:C,NC_000011.10:57333126:A:G
Gene:: SSRP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
C=0.002186/4 (Korea1K)
HGVS:: NC_000011.10:g.57333127A>C, NC_000011.10:g.57333127A>G, NC_000011.9:g.57100601A>C, NC_000011.9:g.57100601A>G, NM_003146.3:c.369T>G, NM_003146.3:c.369T>C, NM_003146.2:c.369T>G, NM_003146.2:c.369T>C, XM_017018180.2:c.867T>G, XM_017018180.2:c.867T>C, XM_017018180.1:c.771T>G, XM_017018180.1:c.771T>C, XM_047427498.1:c.369T>G, XM_047427498.1:c.369T>C, XM_047427499.1:c.867T>G, XM_047427499.1:c.867T>C, NP_003137.1:p.Ile123Met, XP_016873669.2:p.Ile289Met, XP_047283454.1:p.Ile123Met, XP_047283455.1:p.Ile289Met

Select item 14867725993.

rs1486772599 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:57332654 (GRCh38)
11:57100128 (GRCh37)
Canonical SPDI:: NC_000011.10:57332653:G:T
Gene:: SSRP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.57332654G>T, NC_000011.9:g.57100128G>T, NM_003146.3:c.739C>A, NM_003146.2:c.739C>A, XM_017018180.2:c.1237C>A, XM_017018180.1:c.1141C>A, XM_047427498.1:c.739C>A, XM_047427499.1:c.1237C>A, NP_003137.1:p.His247Asn, XP_016873669.2:p.His413Asn, XP_047283454.1:p.His247Asn, XP_047283455.1:p.His413Asn

Select item 14855313604.

rs1485531360 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:57328321 (GRCh38)
11:57095795 (GRCh37)
Canonical SPDI:: NC_000011.10:57328320:G:T
Gene:: SSRP1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.57328321G>T, NC_000011.9:g.57095795G>T, NM_003146.3:c.1587C>A, NM_003146.2:c.1587C>A, XM_017018180.2:c.2085C>A, XM_017018180.1:c.1989C>A, XM_047427498.1:c.1587C>A

Select item 14836489085.

rs1483648908 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:57335088 (GRCh38)
11:57102562 (GRCh37)
Canonical SPDI:: NC_000011.10:57335087:G:A
Gene:: P2RX3 (Varview), SSRP1 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.57335088G>A, NC_000011.9:g.57102562G>A, NM_003146.3:c.34C>T, NM_003146.2:c.34C>T, XM_017018180.2:c.532C>T, XM_017018180.1:c.436C>T, XM_047427498.1:c.34C>T, XM_047427499.1:c.532C>T, NP_003137.1:p.Gln12Ter, XP_016873669.2:p.Gln178Ter, XP_047283454.1:p.Gln12Ter, XP_047283455.1:p.Gln178Ter

Select item 14832085166.

rs1483208516 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:57326743 (GRCh38)
11:57094217 (GRCh37)
Canonical SPDI:: NC_000011.10:57326742:G:A
Gene:: SSRP1 (Varview), TNKS1BP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_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_000011.10:g.57326743G>A, NC_000011.9:g.57094217G>A, NM_003146.3:c.2018C>T, NM_003146.2:c.2018C>T, XM_017018180.2:c.2516C>T, XM_017018180.1:c.2420C>T, XM_047427498.1:c.2018C>T, NP_003137.1:p.Ser673Leu, XP_016873669.2:p.Ser839Leu, XP_047283454.1:p.Ser673Leu

Select item 14828493607.

rs1482849360 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:57327790 (GRCh38)
11:57095264 (GRCh37)
Canonical SPDI:: NC_000011.10:57327789:G:A
Gene:: SSRP1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000011.10:g.57327790G>A, NC_000011.9:g.57095264G>A, NM_003146.3:c.1704C>T, NM_003146.2:c.1704C>T, XM_017018180.2:c.2202C>T, XM_017018180.1:c.2106C>T, XM_047427498.1:c.1704C>T

Select item 14790250988.

rs1479025098 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 11:57330126 (GRCh38)
11:57097600 (GRCh37)
Canonical SPDI:: NC_000011.10:57330125:T:C,NC_000011.10:57330125:T:G
Gene:: SSRP1 (Varview), LOC124902831 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.57330126T>C, NC_000011.10:g.57330126T>G, NC_000011.9:g.57097600T>C, NC_000011.9:g.57097600T>G, NM_003146.3:c.1448A>G, NM_003146.3:c.1448A>C, NM_003146.2:c.1448A>G, NM_003146.2:c.1448A>C, XM_017018180.2:c.1946A>G, XM_017018180.2:c.1946A>C, XM_017018180.1:c.1850A>G, XM_017018180.1:c.1850A>C, XM_047427498.1:c.1448A>G, XM_047427498.1:c.1448A>C, NP_003137.1:p.Asn483Ser, NP_003137.1:p.Asn483Thr, XP_016873669.2:p.Asn649Ser, XP_016873669.2:p.Asn649Thr, XP_047283454.1:p.Asn483Ser, XP_047283454.1:p.Asn483Thr

Select item 14788427109.

rs1478842710 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:57332411 (GRCh38)
11:57099885 (GRCh37)
Canonical SPDI:: NC_000011.10:57332410:C:A
Gene:: SSRP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.57332411C>A, NC_000011.9:g.57099885C>A, NM_003146.3:c.844G>T, NM_003146.2:c.844G>T, XM_017018180.2:c.1342G>T, XM_017018180.1:c.1246G>T, XM_047427498.1:c.844G>T, XM_047427499.1:c.1342G>T, NP_003137.1:p.Asp282Tyr, XP_016873669.2:p.Asp448Tyr, XP_047283454.1:p.Asp282Tyr, XP_047283455.1:p.Asp448Tyr

Select item 147758218610.

rs1477582186 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:57326747 (GRCh38)
11:57094221 (GRCh37)
Canonical SPDI:: NC_000011.10:57326746:A:G
Gene:: SSRP1 (Varview), TNKS1BP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.57326747A>G, NC_000011.9:g.57094221A>G, NM_003146.3:c.2014T>C, NM_003146.2:c.2014T>C, XM_017018180.2:c.2512T>C, XM_017018180.1:c.2416T>C, XM_047427498.1:c.2014T>C, NP_003137.1:p.Ser672Pro, XP_016873669.2:p.Ser838Pro, XP_047283454.1:p.Ser672Pro

Select item 147682376711.

rs1476823767 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:57334593 (GRCh38)
11:57102067 (GRCh37)
Canonical SPDI:: NC_000011.10:57334592:G:A
Gene:: P2RX3 (Varview), SSRP1 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,2KB_upstream_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_000011.10:g.57334593G>A, NC_000011.9:g.57102067G>A, NM_003146.3:c.110C>T, NM_003146.2:c.110C>T, XM_017018180.2:c.608C>T, XM_017018180.1:c.512C>T, XM_047427498.1:c.110C>T, XM_047427499.1:c.608C>T, NP_003137.1:p.Thr37Ile, XP_016873669.2:p.Thr203Ile, XP_047283454.1:p.Thr37Ile, XP_047283455.1:p.Thr203Ile

Select item 147645781012.

rs1476457810 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:57333118 (GRCh38)
11:57100592 (GRCh37)
Canonical SPDI:: NC_000011.10:57333117:C:T
Gene:: SSRP1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.57333118C>T, NC_000011.9:g.57100592C>T, NM_003146.3:c.378G>A, NM_003146.2:c.378G>A, XM_017018180.2:c.876G>A, XM_017018180.1:c.780G>A, XM_047427498.1:c.378G>A, XM_047427499.1:c.876G>A

Select item 147482789513.

rs1474827895 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:57333045 (GRCh38)
11:57100519 (GRCh37)
Canonical SPDI:: NC_000011.10:57333044:G:A
Gene:: SSRP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.57333045G>A, NC_000011.9:g.57100519G>A, NM_003146.3:c.451C>T, NM_003146.2:c.451C>T, XM_017018180.2:c.949C>T, XM_017018180.1:c.853C>T, XM_047427498.1:c.451C>T, XM_047427499.1:c.949C>T, NP_003137.1:p.His151Tyr, XP_016873669.2:p.His317Tyr, XP_047283454.1:p.His151Tyr, XP_047283455.1:p.His317Tyr

Select item 147389342714.

rs1473893427 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:57330419 (GRCh38)
11:57097893 (GRCh37)
Canonical SPDI:: NC_000011.10:57330418:G:C
Gene:: SSRP1 (Varview), LOC124902831 (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.57330419G>C, NC_000011.9:g.57097893G>C, NM_003146.3:c.1307C>G, NM_003146.2:c.1307C>G, XM_017018180.2:c.1805C>G, XM_017018180.1:c.1709C>G, XM_047427498.1:c.1307C>G, XM_047427499.1:c.*191C>G, NP_003137.1:p.Pro436Arg, XP_016873669.2:p.Pro602Arg, XP_047283454.1:p.Pro436Arg

Select item 147280539815.

rs1472805398 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:57328413 (GRCh38)
11:57095887 (GRCh37)
Canonical SPDI:: NC_000011.10:57328412:C:T
Gene:: SSRP1 (Varview), LOC124902831 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000011.10:g.57328413C>T, NC_000011.9:g.57095887C>T, NM_003146.3:c.1495G>A, NM_003146.2:c.1495G>A, XM_017018180.2:c.1993G>A, XM_017018180.1:c.1897G>A, XM_047427498.1:c.1495G>A, NP_003137.1:p.Ala499Thr, XP_016873669.2:p.Ala665Thr, XP_047283454.1:p.Ala499Thr

Select item 147036067716.

rs1470360677 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:57332178 (GRCh38)
11:57099652 (GRCh37)
Canonical SPDI:: NC_000011.10:57332177:C:T
Gene:: SSRP1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.57332178C>T, NC_000011.9:g.57099652C>T, NM_003146.3:c.975G>A, NM_003146.2:c.975G>A, XM_017018180.2:c.1473G>A, XM_017018180.1:c.1377G>A, XM_047427498.1:c.975G>A, XM_047427499.1:c.1473G>A

Select item 146955917817.

rs1469559178 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:57333515 (GRCh38)
11:57100989 (GRCh37)
Canonical SPDI:: NC_000011.10:57333514:A:C
Gene:: SSRP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.57333515A>C, NC_000011.9:g.57100989A>C, NM_003146.3:c.266T>G, NM_003146.2:c.266T>G, XM_017018180.2:c.764T>G, XM_017018180.1:c.668T>G, XM_047427498.1:c.266T>G, XM_047427499.1:c.764T>G, NP_003137.1:p.Phe89Cys, XP_016873669.2:p.Phe255Cys, XP_047283454.1:p.Phe89Cys, XP_047283455.1:p.Phe255Cys

Select item 146476479418.

rs1464764794 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:57335095 (GRCh38)
11:57102569 (GRCh37)
Canonical SPDI:: NC_000011.10:57335094:G:A
Gene:: P2RX3 (Varview), SSRP1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.57335095G>A, NC_000011.9:g.57102569G>A, NM_003146.3:c.27C>T, NM_003146.2:c.27C>T, XM_017018180.2:c.525C>T, XM_017018180.1:c.429C>T, XM_047427498.1:c.27C>T, XM_047427499.1:c.525C>T

Select item 146367203619.

rs1463672036 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:57326765 (GRCh38)
11:57094239 (GRCh37)
Canonical SPDI:: NC_000011.10:57326764:C:T
Gene:: SSRP1 (Varview), TNKS1BP1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_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)
HGVS:: NC_000011.10:g.57326765C>T, NC_000011.9:g.57094239C>T, NM_003146.3:c.1996G>A, NM_003146.2:c.1996G>A, XM_017018180.2:c.2494G>A, XM_017018180.1:c.2398G>A, XM_047427498.1:c.1996G>A, NP_003137.1:p.Val666Met, XP_016873669.2:p.Val832Met, XP_047283454.1:p.Val666Met

Select item 146338191720.

rs1463381917 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:57332855 (GRCh38)
11:57100329 (GRCh37)
Canonical SPDI:: NC_000011.10:57332854:C:T
Gene:: SSRP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.57332855C>T, NC_000011.9:g.57100329C>T, NM_003146.3:c.538G>A, NM_003146.2:c.538G>A, XM_017018180.2:c.1036G>A, XM_017018180.1:c.940G>A, XM_047427498.1:c.538G>A, XM_047427499.1:c.1036G>A, NP_003137.1:p.Ala180Thr, XP_016873669.2:p.Ala346Thr, XP_047283454.1:p.Ala180Thr, XP_047283455.1:p.Ala346Thr

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