SNP Links for Protein (Select 992319644) - SNP

Links from Protein

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Select item 14905225591.

rs1490522559 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:209780554 (GRCh38)
1:209953899 (GRCh37)
Canonical SPDI:: NC_000001.11:209780553:T:A,NC_000001.11:209780553:T:C
Gene:: TRAF3IP3 (Varview), C1orf74 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
T=0./0 (SGDP_PRJ)
HGVS:: NC_000001.11:g.209780554T>A, NC_000001.11:g.209780554T>C, NC_000001.10:g.209953899T>A, NC_000001.10:g.209953899T>C, NG_033934.1:g.29523T>A, NG_033934.1:g.29523T>C, NM_025228.4:c.1397T>A, NM_025228.4:c.1397T>C, NM_025228.3:c.1397T>A, NM_025228.3:c.1397T>C, NM_025228.2:c.1397T>A, NM_025228.2:c.1397T>C, NM_001320143.2:c.1397T>A, NM_001320143.2:c.1397T>C, NM_001320143.1:c.1397T>A, NM_001320143.1:c.1397T>C, NM_001320144.2:c.1337T>A, NM_001320144.2:c.1337T>C, NM_001320144.1:c.1337T>A, NM_001320144.1:c.1337T>C, XM_005273279.6:c.605T>A, XM_005273279.6:c.605T>C, XM_005273279.5:c.605T>A, XM_005273279.5:c.605T>C, XM_005273279.4:c.605T>A, XM_005273279.4:c.605T>C, XM_005273279.3:c.605T>A, XM_005273279.3:c.605T>C, XM_005273279.2:c.605T>A, XM_005273279.2:c.605T>C, XM_005273279.1:c.605T>A, XM_005273279.1:c.605T>C, NM_152485.4:c.*2271A>T, NM_152485.4:c.*2271A>G, NM_152485.3:c.*2271A>T, NM_152485.3:c.*2271A>G, XM_011510018.4:c.*1101T>A, XM_011510018.4:c.*1101T>C, NR_131167.1:n.400A>T, NR_131167.1:n.400A>G, NP_079504.2:p.Leu466His, NP_079504.2:p.Leu466Pro, NP_001307072.1:p.Leu466His, NP_001307072.1:p.Leu466Pro, NP_001307073.1:p.Leu446His, NP_001307073.1:p.Leu446Pro, XP_005273336.1:p.Leu202His, XP_005273336.1:p.Leu202Pro

Select item 14868302422.

rs1486830242 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:209760117 (GRCh38)
1:209933462 (GRCh37)
Canonical SPDI:: NC_000001.11:209760116:G:A
Gene:: TRAF3IP3 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.209760117G>A, NC_000001.10:g.209933462G>A, NG_033934.1:g.9086G>A, NM_025228.4:c.78G>A, NM_025228.3:c.78G>A, NM_025228.2:c.78G>A, NM_001320143.2:c.78G>A, NM_001320143.1:c.78G>A, NM_001320144.2:c.78G>A, NM_001320144.1:c.78G>A, NR_109871.2:n.494G>A, NR_109871.1:n.515G>A, XM_011510018.4:c.78G>A, XM_011510018.3:c.78G>A, XM_011510018.2:c.78G>A, XM_011510018.1:c.78G>A, XM_017002400.3:c.78G>A, XM_017002400.2:c.78G>A, XM_017002400.1:c.78G>A, XM_011510019.3:c.78G>A, XM_011510019.2:c.78G>A, XM_011510019.1:c.78G>A, XM_047430963.1:c.78G>A, XM_047430964.1:c.78G>A, XM_047430976.1:c.78G>A

Select item 14848505503.

rs1484850550 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:209760186 (GRCh38)
1:209933531 (GRCh37)
Canonical SPDI:: NC_000001.11:209760185:G:A
Gene:: TRAF3IP3 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.209760186G>A, NC_000001.10:g.209933531G>A, NG_033934.1:g.9155G>A, NM_025228.4:c.147G>A, NM_025228.3:c.147G>A, NM_025228.2:c.147G>A, NM_001320143.2:c.147G>A, NM_001320143.1:c.147G>A, NM_001320144.2:c.147G>A, NM_001320144.1:c.147G>A, NR_109871.2:n.563G>A, NR_109871.1:n.584G>A, XM_011510018.4:c.147G>A, XM_011510018.3:c.147G>A, XM_011510018.2:c.147G>A, XM_011510018.1:c.147G>A, XM_017002400.3:c.147G>A, XM_017002400.2:c.147G>A, XM_017002400.1:c.147G>A, XM_011510019.3:c.147G>A, XM_011510019.2:c.147G>A, XM_011510019.1:c.147G>A, XM_047430963.1:c.147G>A, XM_047430964.1:c.147G>A, XM_047430976.1:c.147G>A

Select item 14836903264.

rs1483690326 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGGAGTTGCA>- [Show Flanks]
Chromosome:: 1:209763071 (GRCh38)
1:209936416 (GRCh37)
Canonical SPDI:: NC_000001.11:209763069:ACGGAGTTGCA:A
Gene:: TRAF3IP3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,stop_gained,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000008/2 (GnomAD_exomes)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.209763071_209763080del, NC_000001.10:g.209936416_209936425del, NG_033934.1:g.12040_12049del, NM_025228.4:c.555_564del, NM_025228.3:c.555_564del, NM_025228.2:c.555_564del, NM_001320143.2:c.555_564del, NM_001320143.1:c.555_564del, NM_001320144.2:c.495_504del, NM_001320144.1:c.495_504del, NR_109871.2:n.971_980del, NR_109871.1:n.992_1001del, XM_011510018.4:c.555_564del, XM_011510018.3:c.555_564del, XM_011510018.2:c.555_564del, XM_011510018.1:c.555_564del, XM_017002400.3:c.555_564del, XM_017002400.2:c.555_564del, XM_017002400.1:c.555_564del, XM_011510019.3:c.555_564del, XM_011510019.2:c.555_564del, XM_011510019.1:c.555_564del, XM_047430963.1:c.555_564del, XM_047430964.1:c.555_564del, XM_047430976.1:c.555_564del, NP_079504.2:p.Asn184_Tyr185insTer, NP_001307072.1:p.Asn184_Tyr185insTer, NP_001307073.1:p.Asn164_Tyr165insTer, XP_011508320.1:p.Asn184_Tyr185insTer, XP_016857889.1:p.Asn184_Tyr185insTer, XP_011508321.1:p.Asn184_Tyr185insTer, XP_047286919.1:p.Asn184_Tyr185insTer, XP_047286920.1:p.Asn184_Tyr185insTer, XP_047286932.1:p.Asn184_Tyr185insTer

Select item 14824195705.

rs1482419570 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:209781410 (GRCh38)
1:209954755 (GRCh37)
Canonical SPDI:: NC_000001.11:209781409:G:T
Gene:: TRAF3IP3 (Varview), C1orf74 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.209781410G>T, NC_000001.10:g.209954755G>T, NG_033934.1:g.30379G>T, NM_025228.4:c.1515G>T, NM_025228.3:c.1515G>T, NM_025228.2:c.1515G>T, NM_001320143.2:c.1515G>T, NM_001320143.1:c.1515G>T, NM_001320144.2:c.1455G>T, NM_001320144.1:c.1455G>T, XM_005273279.6:c.723G>T, XM_005273279.5:c.723G>T, XM_005273279.4:c.723G>T, XM_005273279.3:c.723G>T, XM_005273279.2:c.723G>T, XM_005273279.1:c.723G>T, NM_152485.4:c.*1415C>A, NM_152485.3:c.*1415C>A, XM_011510018.4:c.*1957G>T, XM_047430964.1:c.*28G>T

Select item 14820872846.

rs1482087284 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:209763542 (GRCh38)
1:209936887 (GRCh37)
Canonical SPDI:: NC_000001.11:209763541:A:G
Gene:: TRAF3IP3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.209763542A>G, NC_000001.10:g.209936887A>G, NG_033934.1:g.12511A>G, NM_025228.4:c.657A>G, NM_025228.3:c.657A>G, NM_025228.2:c.657A>G, NM_001320143.2:c.657A>G, NM_001320143.1:c.657A>G, NM_001320144.2:c.597A>G, NM_001320144.1:c.597A>G, NR_109871.2:n.1073A>G, NR_109871.1:n.1094A>G, XM_011510018.4:c.657A>G, XM_011510018.3:c.657A>G, XM_011510018.2:c.657A>G, XM_011510018.1:c.657A>G, XM_017002400.3:c.657A>G, XM_017002400.2:c.657A>G, XM_017002400.1:c.657A>G, XM_011510019.3:c.657A>G, XM_011510019.2:c.657A>G, XM_011510019.1:c.657A>G, XM_047430963.1:c.657A>G, XM_047430964.1:c.657A>G, XM_047430976.1:c.657A>G

Select item 14812794167.

rs1481279416 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:209760324 (GRCh38)
1:209933669 (GRCh37)
Canonical SPDI:: NC_000001.11:209760323:G:A
Gene:: TRAF3IP3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_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_000001.11:g.209760324G>A, NC_000001.10:g.209933669G>A, NG_033934.1:g.9293G>A, NM_025228.4:c.285G>A, NM_025228.3:c.285G>A, NM_025228.2:c.285G>A, NM_001320143.2:c.285G>A, NM_001320143.1:c.285G>A, NM_001320144.2:c.285G>A, NM_001320144.1:c.285G>A, NR_109871.2:n.701G>A, NR_109871.1:n.722G>A, XM_011510018.4:c.285G>A, XM_011510018.3:c.285G>A, XM_011510018.2:c.285G>A, XM_011510018.1:c.285G>A, XM_017002400.3:c.285G>A, XM_017002400.2:c.285G>A, XM_017002400.1:c.285G>A, XM_011510019.3:c.285G>A, XM_011510019.2:c.285G>A, XM_011510019.1:c.285G>A, XM_047430963.1:c.285G>A, XM_047430964.1:c.285G>A, XM_047430976.1:c.285G>A

Select item 14799974828.

rs1479997482 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:209781417 (GRCh38)
1:209954762 (GRCh37)
Canonical SPDI:: NC_000001.11:209781416:T:G
Gene:: TRAF3IP3 (Varview), C1orf74 (Varview)
Functional Consequence:: missense_variant,intron_variant,3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.209781417T>G, NC_000001.10:g.209954762T>G, NG_033934.1:g.30386T>G, NM_025228.4:c.1522T>G, NM_025228.3:c.1522T>G, NM_025228.2:c.1522T>G, NM_001320143.2:c.1522T>G, NM_001320143.1:c.1522T>G, NM_001320144.2:c.1462T>G, NM_001320144.1:c.1462T>G, XM_005273279.6:c.730T>G, XM_005273279.5:c.730T>G, XM_005273279.4:c.730T>G, XM_005273279.3:c.730T>G, XM_005273279.2:c.730T>G, XM_005273279.1:c.730T>G, NM_152485.4:c.*1408A>C, NM_152485.3:c.*1408A>C, XM_011510018.4:c.*1964T>G, XM_047430964.1:c.*35T>G, NP_079504.2:p.Cys508Gly, NP_001307072.1:p.Cys508Gly, NP_001307073.1:p.Cys488Gly, XP_005273336.1:p.Cys244Gly

Select item 14784736309.

rs1478473630 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:209763367 (GRCh38)
1:209936712 (GRCh37)
Canonical SPDI:: NC_000001.11:209763366:T:C
Gene:: TRAF3IP3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.209763367T>C, NC_000001.10:g.209936712T>C, NG_033934.1:g.12336T>C, NM_025228.4:c.581T>C, NM_025228.3:c.581T>C, NM_025228.2:c.581T>C, NM_001320143.2:c.581T>C, NM_001320143.1:c.581T>C, NM_001320144.2:c.521T>C, NM_001320144.1:c.521T>C, NR_109871.2:n.997T>C, NR_109871.1:n.1018T>C, XM_011510018.4:c.581T>C, XM_011510018.3:c.581T>C, XM_011510018.2:c.581T>C, XM_011510018.1:c.581T>C, XM_017002400.3:c.581T>C, XM_017002400.2:c.581T>C, XM_017002400.1:c.581T>C, XM_011510019.3:c.581T>C, XM_011510019.2:c.581T>C, XM_011510019.1:c.581T>C, XM_047430963.1:c.581T>C, XM_047430964.1:c.581T>C, XM_047430976.1:c.581T>C, NP_079504.2:p.Ile194Thr, NP_001307072.1:p.Ile194Thr, NP_001307073.1:p.Ile174Thr, XP_011508320.1:p.Ile194Thr, XP_016857889.1:p.Ile194Thr, XP_011508321.1:p.Ile194Thr, XP_047286919.1:p.Ile194Thr, XP_047286920.1:p.Ile194Thr, XP_047286932.1:p.Ile194Thr

Select item 147758119810.

rs1477581198 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:209775462 (GRCh38)
1:209948807 (GRCh37)
Canonical SPDI:: NC_000001.11:209775461:T:C
Gene:: TRAF3IP3 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.209775462T>C, NC_000001.10:g.209948807T>C, NG_033934.1:g.24431T>C, NM_025228.4:c.888T>C, NM_025228.3:c.888T>C, NM_025228.2:c.888T>C, NM_001320143.2:c.888T>C, NM_001320143.1:c.888T>C, NM_001320144.2:c.828T>C, NM_001320144.1:c.828T>C, NR_109871.2:n.1304T>C, NR_109871.1:n.1325T>C, NM_001287754.2:c.96T>C, NM_001287754.1:c.96T>C, XM_005273279.6:c.96T>C, XM_005273279.5:c.96T>C, XM_005273279.4:c.96T>C, XM_005273279.3:c.96T>C, XM_005273279.2:c.96T>C, XM_005273279.1:c.96T>C, XM_011510018.4:c.888T>C, XM_011510018.3:c.888T>C, XM_011510018.2:c.888T>C, XM_011510018.1:c.888T>C, XM_017002400.3:c.888T>C, XM_017002400.2:c.888T>C, XM_017002400.1:c.888T>C, XM_011510019.3:c.888T>C, XM_011510019.2:c.888T>C, XM_011510019.1:c.888T>C, XM_047430963.1:c.888T>C, XM_047430964.1:c.888T>C, XM_047430976.1:c.*92T>C

Select item 147516062711.

rs1475160627 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:209760346 (GRCh38)
1:209933691 (GRCh37)
Canonical SPDI:: NC_000001.11:209760345:T:C
Gene:: TRAF3IP3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.209760346T>C, NC_000001.10:g.209933691T>C, NG_033934.1:g.9315T>C, NM_025228.4:c.307T>C, NM_025228.3:c.307T>C, NM_025228.2:c.307T>C, NM_001320143.2:c.307T>C, NM_001320143.1:c.307T>C, NR_109871.2:n.723T>C, NR_109871.1:n.744T>C, XM_011510018.4:c.307T>C, XM_011510018.3:c.307T>C, XM_011510018.2:c.307T>C, XM_011510018.1:c.307T>C, XM_017002400.3:c.307T>C, XM_017002400.2:c.307T>C, XM_017002400.1:c.307T>C, XM_011510019.3:c.307T>C, XM_011510019.2:c.307T>C, XM_011510019.1:c.307T>C, XM_047430963.1:c.307T>C, XM_047430964.1:c.307T>C, XM_047430976.1:c.307T>C

Select item 147384710412.

rs1473847104 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:209775728 (GRCh38)
1:209949073 (GRCh37)
Canonical SPDI:: NC_000001.11:209775727:A:C
Gene:: TRAF3IP3 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,missense_variant,downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.209775728A>C, NC_000001.10:g.209949073A>C, NG_033934.1:g.24697A>C, NM_025228.4:c.1045A>C, NM_025228.3:c.1045A>C, NM_025228.2:c.1045A>C, NM_001320143.2:c.1045A>C, NM_001320143.1:c.1045A>C, NM_001320144.2:c.985A>C, NM_001320144.1:c.985A>C, NR_109871.2:n.1461A>C, NR_109871.1:n.1482A>C, NM_001287754.2:c.253A>C, NM_001287754.1:c.253A>C, XM_005273279.6:c.253A>C, XM_005273279.5:c.253A>C, XM_005273279.4:c.253A>C, XM_005273279.3:c.253A>C, XM_005273279.2:c.253A>C, XM_005273279.1:c.253A>C, XM_011510018.4:c.1045A>C, XM_011510018.3:c.1045A>C, XM_011510018.2:c.1045A>C, XM_011510018.1:c.1045A>C, XM_017002400.3:c.1045A>C, XM_017002400.2:c.1045A>C, XM_017002400.1:c.1045A>C, XM_011510019.3:c.*140A>C, XM_047430963.1:c.1045A>C, XM_047430964.1:c.1045A>C, NP_079504.2:p.Lys349Gln, NP_001307072.1:p.Lys349Gln, NP_001307073.1:p.Lys329Gln, NP_001274683.1:p.Lys85Gln, XP_005273336.1:p.Lys85Gln, XP_011508320.1:p.Lys349Gln, XP_016857889.1:p.Lys349Gln, XP_047286919.1:p.Lys349Gln, XP_047286920.1:p.Lys349Gln

Select item 147127170513.

rs1471271705 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:209760272 (GRCh38)
1:209933617 (GRCh37)
Canonical SPDI:: NC_000001.11:209760271:A:C
Gene:: TRAF3IP3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.209760272A>C, NC_000001.10:g.209933617A>C, NG_033934.1:g.9241A>C, NM_025228.4:c.233A>C, NM_025228.3:c.233A>C, NM_025228.2:c.233A>C, NM_001320143.2:c.233A>C, NM_001320143.1:c.233A>C, NM_001320144.2:c.233A>C, NM_001320144.1:c.233A>C, NR_109871.2:n.649A>C, NR_109871.1:n.670A>C, XM_011510018.4:c.233A>C, XM_011510018.3:c.233A>C, XM_011510018.2:c.233A>C, XM_011510018.1:c.233A>C, XM_017002400.3:c.233A>C, XM_017002400.2:c.233A>C, XM_017002400.1:c.233A>C, XM_011510019.3:c.233A>C, XM_011510019.2:c.233A>C, XM_011510019.1:c.233A>C, XM_047430963.1:c.233A>C, XM_047430964.1:c.233A>C, XM_047430976.1:c.233A>C, NP_079504.2:p.Lys78Thr, NP_001307072.1:p.Lys78Thr, NP_001307073.1:p.Lys78Thr, XP_011508320.1:p.Lys78Thr, XP_016857889.1:p.Lys78Thr, XP_011508321.1:p.Lys78Thr, XP_047286919.1:p.Lys78Thr, XP_047286920.1:p.Lys78Thr, XP_047286932.1:p.Lys78Thr

Select item 147058100414.

rs1470581004 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:209782068 (GRCh38)
1:209955413 (GRCh37)
Canonical SPDI:: NC_000001.11:209782067:C:T
Gene:: TRAF3IP3 (Varview), C1orf74 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.209782068C>T, NC_000001.10:g.209955413C>T, NG_033934.1:g.31037C>T, NM_025228.4:c.1576C>T, NM_025228.3:c.1576C>T, NM_025228.2:c.1576C>T, NM_001320143.2:c.1576C>T, NM_001320143.1:c.1576C>T, NM_001320144.2:c.1516C>T, NM_001320144.1:c.1516C>T, XM_005273279.6:c.784C>T, XM_005273279.5:c.784C>T, XM_005273279.4:c.784C>T, XM_005273279.3:c.784C>T, XM_005273279.2:c.784C>T, XM_005273279.1:c.784C>T, NM_152485.4:c.*757G>A, NM_152485.3:c.*757G>A, XM_011510018.4:c.*2615C>T, XM_047430963.1:c.1325C>T, NP_079504.2:p.Arg526Ter, NP_001307072.1:p.Arg526Ter, NP_001307073.1:p.Arg506Ter, XP_005273336.1:p.Arg262Ter, XP_047286919.1:p.Ala442Val

Select item 146951059015.

rs1469510590 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTACCC>- [Show Flanks]
Chromosome:: 1:209773011 (GRCh38)
1:209946356 (GRCh37)
Canonical SPDI:: NC_000001.11:209773008:CCTGTACCC:CC
Gene:: TRAF3IP3 (Varview)
Functional Consequence:: frameshift_variant,5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.209773011_209773017del, NC_000001.10:g.209946356_209946362del, NG_033934.1:g.21980_21986del, NM_025228.4:c.766_772del, NM_025228.3:c.766_772del, NM_025228.2:c.766_772del, NM_001320143.2:c.766_772del, NM_001320143.1:c.766_772del, NM_001320144.2:c.706_712del, NM_001320144.1:c.706_712del, NR_109871.2:n.1182_1188del, NR_109871.1:n.1203_1209del, NM_001287754.2:c.-27_-21del, NM_001287754.1:c.-27_-21del, XM_005273279.6:c.-27_-21del, XM_005273279.5:c.-27_-21del, XM_005273279.4:c.-27_-21del, XM_005273279.3:c.-27_-21del, XM_005273279.2:c.-27_-21del, XM_005273279.1:c.-27_-21del, XM_011510018.4:c.766_772del, XM_011510018.3:c.766_772del, XM_011510018.2:c.766_772del, XM_011510018.1:c.766_772del, XM_017002400.3:c.766_772del, XM_017002400.2:c.766_772del, XM_017002400.1:c.766_772del, XM_011510019.3:c.766_772del, XM_011510019.2:c.766_772del, XM_011510019.1:c.766_772del, XM_047430963.1:c.766_772del, XM_047430964.1:c.766_772del, XM_047430976.1:c.766_772del, NP_079504.2:p.Cys256fs, NP_001307072.1:p.Cys256fs, NP_001307073.1:p.Cys236fs, XP_011508320.1:p.Cys256fs, XP_016857889.1:p.Cys256fs, XP_011508321.1:p.Cys256fs, XP_047286919.1:p.Cys256fs, XP_047286920.1:p.Cys256fs, XP_047286932.1:p.Cys256fs

Select item 146607090716.

rs1466070907 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:209780506 (GRCh38)
1:209953851 (GRCh37)
Canonical SPDI:: NC_000001.11:209780505:C:T
Gene:: TRAF3IP3 (Varview), C1orf74 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,intron_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_000001.11:g.209780506C>T, NC_000001.10:g.209953851C>T, NG_033934.1:g.29475C>T, NM_025228.4:c.1349C>T, NM_025228.3:c.1349C>T, NM_025228.2:c.1349C>T, NM_001320143.2:c.1349C>T, NM_001320143.1:c.1349C>T, NM_001320144.2:c.1289C>T, NM_001320144.1:c.1289C>T, XM_005273279.6:c.557C>T, XM_005273279.5:c.557C>T, XM_005273279.4:c.557C>T, XM_005273279.3:c.557C>T, XM_005273279.2:c.557C>T, XM_005273279.1:c.557C>T, NM_152485.4:c.*2319G>A, NM_152485.3:c.*2319G>A, XM_011510018.4:c.*1053C>T, NR_131167.1:n.448G>A, NP_079504.2:p.Pro450Leu, NP_001307072.1:p.Pro450Leu, NP_001307073.1:p.Pro430Leu, XP_005273336.1:p.Pro186Leu

Select item 146499211017.

rs1464992110 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:209775627 (GRCh38)
1:209948972 (GRCh37)
Canonical SPDI:: NC_000001.11:209775626:G:A
Gene:: TRAF3IP3 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant,3_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_000001.11:g.209775627G>A, NC_000001.10:g.209948972G>A, NG_033934.1:g.24596G>A, NM_025228.4:c.944G>A, NM_025228.3:c.944G>A, NM_025228.2:c.944G>A, NM_001320143.2:c.944G>A, NM_001320143.1:c.944G>A, NM_001320144.2:c.884G>A, NM_001320144.1:c.884G>A, NR_109871.2:n.1360G>A, NR_109871.1:n.1381G>A, NM_001287754.2:c.152G>A, NM_001287754.1:c.152G>A, XM_005273279.6:c.152G>A, XM_005273279.5:c.152G>A, XM_005273279.4:c.152G>A, XM_005273279.3:c.152G>A, XM_005273279.2:c.152G>A, XM_005273279.1:c.152G>A, XM_011510018.4:c.944G>A, XM_011510018.3:c.944G>A, XM_011510018.2:c.944G>A, XM_011510018.1:c.944G>A, XM_017002400.3:c.944G>A, XM_017002400.2:c.944G>A, XM_017002400.1:c.944G>A, XM_011510019.3:c.*39G>A, XM_011510019.2:c.*39G>A, XM_011510019.1:c.*39G>A, XM_047430963.1:c.944G>A, XM_047430964.1:c.944G>A, NP_079504.2:p.Cys315Tyr, NP_001307072.1:p.Cys315Tyr, NP_001307073.1:p.Cys295Tyr, NP_001274683.1:p.Cys51Tyr, XP_005273336.1:p.Cys51Tyr, XP_011508320.1:p.Cys315Tyr, XP_016857889.1:p.Cys315Tyr, XP_047286919.1:p.Cys315Tyr, XP_047286920.1:p.Cys315Tyr

Select item 146458841318.

rs1464588413 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:209775638 (GRCh38)
1:209948983 (GRCh37)
Canonical SPDI:: NC_000001.11:209775637:A:G,NC_000001.11:209775637:A:T
Gene:: TRAF3IP3 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0./0 (Korea1K)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.209775638A>G, NC_000001.11:g.209775638A>T, NC_000001.10:g.209948983A>G, NC_000001.10:g.209948983A>T, NG_033934.1:g.24607A>G, NG_033934.1:g.24607A>T, NM_025228.4:c.955A>G, NM_025228.4:c.955A>T, NM_025228.3:c.955A>G, NM_025228.3:c.955A>T, NM_025228.2:c.955A>G, NM_025228.2:c.955A>T, NM_001320143.2:c.955A>G, NM_001320143.2:c.955A>T, NM_001320143.1:c.955A>G, NM_001320143.1:c.955A>T, NM_001320144.2:c.895A>G, NM_001320144.2:c.895A>T, NM_001320144.1:c.895A>G, NM_001320144.1:c.895A>T, NR_109871.2:n.1371A>G, NR_109871.2:n.1371A>T, NR_109871.1:n.1392A>G, NR_109871.1:n.1392A>T, NM_001287754.2:c.163A>G, NM_001287754.2:c.163A>T, NM_001287754.1:c.163A>G, NM_001287754.1:c.163A>T, XM_005273279.6:c.163A>G, XM_005273279.6:c.163A>T, XM_005273279.5:c.163A>G, XM_005273279.5:c.163A>T, XM_005273279.4:c.163A>G, XM_005273279.4:c.163A>T, XM_005273279.3:c.163A>G, XM_005273279.3:c.163A>T, XM_005273279.2:c.163A>G, XM_005273279.2:c.163A>T, XM_005273279.1:c.163A>G, XM_005273279.1:c.163A>T, XM_011510018.4:c.955A>G, XM_011510018.4:c.955A>T, XM_011510018.3:c.955A>G, XM_011510018.3:c.955A>T, XM_011510018.2:c.955A>G, XM_011510018.2:c.955A>T, XM_011510018.1:c.955A>G, XM_011510018.1:c.955A>T, XM_017002400.3:c.955A>G, XM_017002400.3:c.955A>T, XM_017002400.2:c.955A>G, XM_017002400.2:c.955A>T, XM_017002400.1:c.955A>G, XM_017002400.1:c.955A>T, XM_011510019.3:c.*50A>G, XM_011510019.3:c.*50A>T, XM_011510019.2:c.*50A>G, XM_011510019.2:c.*50A>T, XM_011510019.1:c.*50A>G, XM_011510019.1:c.*50A>T, XM_047430963.1:c.955A>G, XM_047430963.1:c.955A>T, XM_047430964.1:c.955A>G, XM_047430964.1:c.955A>T, NP_079504.2:p.Arg319Gly, NP_079504.2:p.Arg319Trp, NP_001307072.1:p.Arg319Gly, NP_001307072.1:p.Arg319Trp, NP_001307073.1:p.Arg299Gly, NP_001307073.1:p.Arg299Trp, NP_001274683.1:p.Arg55Gly, NP_001274683.1:p.Arg55Trp, XP_005273336.1:p.Arg55Gly, XP_005273336.1:p.Arg55Trp, XP_011508320.1:p.Arg319Gly, XP_011508320.1:p.Arg319Trp, XP_016857889.1:p.Arg319Gly, XP_016857889.1:p.Arg319Trp, XP_047286919.1:p.Arg319Gly, XP_047286919.1:p.Arg319Trp, XP_047286920.1:p.Arg319Gly, XP_047286920.1:p.Arg319Trp

Select item 146169563119.

rs1461695631 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:209782131 (GRCh38)
1:209955476 (GRCh37)
Canonical SPDI:: NC_000001.11:209782130:G:T
Gene:: TRAF3IP3 (Varview), C1orf74 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.209782131G>T, NC_000001.10:g.209955476G>T, NG_033934.1:g.31100G>T, NM_025228.4:c.1639G>T, NM_025228.3:c.1639G>T, NM_025228.2:c.1639G>T, NM_001320143.2:c.1639G>T, NM_001320143.1:c.1639G>T, NM_001320144.2:c.1579G>T, NM_001320144.1:c.1579G>T, XM_005273279.6:c.847G>T, XM_005273279.5:c.847G>T, XM_005273279.4:c.847G>T, XM_005273279.3:c.847G>T, XM_005273279.2:c.847G>T, XM_005273279.1:c.847G>T, NM_152485.4:c.*694C>A, NM_152485.3:c.*694C>A, XM_011510018.4:c.*2678G>T, XM_047430963.1:c.*2G>T, NP_079504.2:p.Asp547Tyr, NP_001307072.1:p.Asp547Tyr, NP_001307073.1:p.Asp527Tyr, XP_005273336.1:p.Asp283Tyr

Select item 145960540120.

rs1459605401 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:209780530 (GRCh38)
1:209953875 (GRCh37)
Canonical SPDI:: NC_000001.11:209780529:C:G
Gene:: TRAF3IP3 (Varview), C1orf74 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.209780530C>G, NC_000001.10:g.209953875C>G, NG_033934.1:g.29499C>G, NM_025228.4:c.1373C>G, NM_025228.3:c.1373C>G, NM_025228.2:c.1373C>G, NM_001320143.2:c.1373C>G, NM_001320143.1:c.1373C>G, NM_001320144.2:c.1313C>G, NM_001320144.1:c.1313C>G, XM_005273279.6:c.581C>G, XM_005273279.5:c.581C>G, XM_005273279.4:c.581C>G, XM_005273279.3:c.581C>G, XM_005273279.2:c.581C>G, XM_005273279.1:c.581C>G, NM_152485.4:c.*2295G>C, NM_152485.3:c.*2295G>C, XM_011510018.4:c.*1077C>G, NR_131167.1:n.424G>C, NP_079504.2:p.Thr458Arg, NP_001307072.1:p.Thr458Arg, NP_001307073.1:p.Thr438Arg, XP_005273336.1:p.Thr194Arg

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