SNP Links for Protein (Select 767952460) - SNP

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:103371758 (GRCh38)
8:104383986 (GRCh37)
Canonical SPDI:: NC_000008.11:103371757:C:G
Gene:: CTHRC1 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000015/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.103371758C>G, NC_000008.10:g.104383986C>G, NG_031985.1:g.5244C>G, NM_138455.4:c.102C>G, NM_138455.3:c.102C>G, XM_011516824.3:c.102C>G, XM_011516824.2:c.102C>G, XM_011516824.1:c.102C>G

Select item 14663612536.

rs1466361253 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:103371794 (GRCh38)
8:104384022 (GRCh37)
Canonical SPDI:: NC_000008.11:103371793:G:A,NC_000008.11:103371793:G:C
Gene:: CTHRC1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_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 (TOPMED)
C=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000008.11:g.103371794G>A, NC_000008.11:g.103371794G>C, NC_000008.10:g.104384022G>A, NC_000008.10:g.104384022G>C, NG_031985.1:g.5280G>A, NG_031985.1:g.5280G>C, NM_138455.4:c.138G>A, NM_138455.4:c.138G>C, NM_138455.3:c.138G>A, NM_138455.3:c.138G>C, XM_011516824.3:c.138G>A, XM_011516824.3:c.138G>C, XM_011516824.2:c.138G>A, XM_011516824.2:c.138G>C, XM_011516824.1:c.138G>A, XM_011516824.1:c.138G>C, NP_612464.1:p.Glu46Asp, XP_011515126.1:p.Glu46Asp

Select item 14515750757.

rs1451575075 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:103371749 (GRCh38)
8:104383977 (GRCh37)
Canonical SPDI:: NC_000008.11:103371748:T:G
Gene:: CTHRC1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.103371749T>G, NC_000008.10:g.104383977T>G, NG_031985.1:g.5235T>G, NM_138455.4:c.93T>G, NM_138455.3:c.93T>G, XM_011516824.3:c.93T>G, XM_011516824.2:c.93T>G, XM_011516824.1:c.93T>G

Select item 14380742038.

rs1438074203 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:103371771 (GRCh38)
8:104383999 (GRCh37)
Canonical SPDI:: NC_000008.11:103371770:A:C
Gene:: CTHRC1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.103371771A>C, NC_000008.10:g.104383999A>C, NG_031985.1:g.5257A>C, NM_138455.4:c.115A>C, NM_138455.3:c.115A>C, XM_011516824.3:c.115A>C, XM_011516824.2:c.115A>C, XM_011516824.1:c.115A>C, NP_612464.1:p.Lys39Gln, XP_011515126.1:p.Lys39Gln

Select item 14378857789.

rs1437885778 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:103371672 (GRCh38)
8:104383900 (GRCh37)
Canonical SPDI:: NC_000008.11:103371671:C:T
Gene:: CTHRC1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000023/6 (TOPMED)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000008.11:g.103371672C>T, NC_000008.10:g.104383900C>T, NG_031985.1:g.5158C>T, NM_138455.4:c.16C>T, NM_138455.3:c.16C>T, XM_011516824.3:c.16C>T, XM_011516824.2:c.16C>T, XM_011516824.1:c.16C>T, NP_612464.1:p.Pro6Ser, XP_011515126.1:p.Pro6Ser

Select item 143181592610.

rs1431815926 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:103371699 (GRCh38)
8:104383927 (GRCh37)
Canonical SPDI:: NC_000008.11:103371698:G:C
Gene:: CTHRC1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000044/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.103371699G>C, NC_000008.10:g.104383927G>C, NG_031985.1:g.5185G>C, NM_138455.4:c.43G>C, NM_138455.3:c.43G>C, XM_011516824.3:c.43G>C, XM_011516824.2:c.43G>C, XM_011516824.1:c.43G>C, NP_612464.1:p.Gly15Arg, XP_011515126.1:p.Gly15Arg

Select item 142299894111.

rs1422998941 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:103371743 (GRCh38)
8:104383971 (GRCh37)
Canonical SPDI:: NC_000008.11:103371742:C:A
Gene:: CTHRC1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000008.11:g.103371743C>A, NC_000008.10:g.104383971C>A, NG_031985.1:g.5229C>A, NM_138455.4:c.87C>A, NM_138455.3:c.87C>A, XM_011516824.3:c.87C>A, XM_011516824.2:c.87C>A, XM_011516824.1:c.87C>A, NP_612464.1:p.Ser29Arg, XP_011515126.1:p.Ser29Arg

Select item 141097659912.

rs1410976599 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:103375877 (GRCh38)
8:104388105 (GRCh37)
Canonical SPDI:: NC_000008.11:103375876:G:C
Gene:: CTHRC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.103375877G>C, NC_000008.10:g.104388105G>C, NG_031985.1:g.9363G>C, NM_138455.4:c.290G>C, NM_138455.3:c.290G>C, NM_001256099.2:c.248G>C, NM_001256099.1:c.248G>C, XM_011516824.3:c.290G>C, XM_011516824.2:c.290G>C, XM_011516824.1:c.290G>C, NP_612464.1:p.Ser97Thr, NP_001243028.1:p.Ser83Thr, XP_011515126.1:p.Ser97Thr

Select item 140973434413.

rs1409734344 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:103375924 (GRCh38)
8:104388152 (GRCh37)
Canonical SPDI:: NC_000008.11:103375923:T:C
Gene:: CTHRC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.103375924T>C, NC_000008.10:g.104388152T>C, NG_031985.1:g.9410T>C, NM_138455.4:c.337T>C, NM_138455.3:c.337T>C, NM_001256099.2:c.295T>C, NM_001256099.1:c.295T>C, XM_011516824.3:c.337T>C, XM_011516824.2:c.337T>C, XM_011516824.1:c.337T>C, NP_612464.1:p.Ser113Pro, NP_001243028.1:p.Ser99Pro, XP_011515126.1:p.Ser113Pro

Select item 140187023714.

rs1401870237 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:103371704 (GRCh38)
8:104383932 (GRCh37)
Canonical SPDI:: NC_000008.11:103371703:C:T
Gene:: CTHRC1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.103371704C>T, NC_000008.10:g.104383932C>T, NG_031985.1:g.5190C>T, NM_138455.4:c.48C>T, NM_138455.3:c.48C>T, XM_011516824.3:c.48C>T, XM_011516824.2:c.48C>T, XM_011516824.1:c.48C>T

Select item 139078699415.

rs1390786994 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:103371745 (GRCh38)
8:104383973 (GRCh37)
Canonical SPDI:: NC_000008.11:103371744:C:T
Gene:: CTHRC1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000094/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.00003/4 (GnomAD_exomes)
HGVS:: NC_000008.11:g.103371745C>T, NC_000008.10:g.104383973C>T, NG_031985.1:g.5231C>T, NM_138455.4:c.89C>T, NM_138455.3:c.89C>T, XM_011516824.3:c.89C>T, XM_011516824.2:c.89C>T, XM_011516824.1:c.89C>T, NP_612464.1:p.Ala30Val, XP_011515126.1:p.Ala30Val

Select item 138924615916.

rs1389246159 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:103375791 (GRCh38)
8:104388019 (GRCh37)
Canonical SPDI:: NC_000008.11:103375790:C:G
Gene:: CTHRC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.103375791C>G, NC_000008.10:g.104388019C>G, NG_031985.1:g.9277C>G, NM_138455.4:c.204C>G, NM_138455.3:c.204C>G, NM_001256099.2:c.162C>G, NM_001256099.1:c.162C>G, XM_011516824.3:c.204C>G, XM_011516824.2:c.204C>G, XM_011516824.1:c.204C>G, NP_612464.1:p.Ser68Arg, NP_001243028.1:p.Ser54Arg, XP_011515126.1:p.Ser68Arg

Select item 138348039017.

rs1383480390 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 8:103371760 (GRCh38)
8:104383988 (GRCh37)
Canonical SPDI:: NC_000008.11:103371759:A:C,NC_000008.11:103371759:A:G
Gene:: CTHRC1 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000015/2 (GnomAD_exomes)
G=0.000558/1 (Korea1K)
HGVS:: NC_000008.11:g.103371760A>C, NC_000008.11:g.103371760A>G, NC_000008.10:g.104383988A>C, NC_000008.10:g.104383988A>G, NG_031985.1:g.5246A>C, NG_031985.1:g.5246A>G, NM_138455.4:c.104A>C, NM_138455.4:c.104A>G, NM_138455.3:c.104A>C, NM_138455.3:c.104A>G, XM_011516824.3:c.104A>C, XM_011516824.3:c.104A>G, XM_011516824.2:c.104A>C, XM_011516824.2:c.104A>G, XM_011516824.1:c.104A>C, XM_011516824.1:c.104A>G, NP_612464.1:p.Lys35Thr, NP_612464.1:p.Lys35Arg, XP_011515126.1:p.Lys35Thr, XP_011515126.1:p.Lys35Arg

Select item 138064087118.

rs1380640871 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:103375945 (GRCh38)
8:104388173 (GRCh37)
Canonical SPDI:: NC_000008.11:103375944:C:A
Gene:: CTHRC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000008.11:g.103375945C>A, NC_000008.10:g.104388173C>A, NG_031985.1:g.9431C>A, NM_138455.4:c.358C>A, NM_138455.3:c.358C>A, NM_001256099.2:c.316C>A, NM_001256099.1:c.316C>A, XM_011516824.3:c.358C>A, XM_011516824.2:c.358C>A, XM_011516824.1:c.358C>A, NP_612464.1:p.Leu120Ile, NP_001243028.1:p.Leu106Ile, XP_011515126.1:p.Leu120Ile

Select item 137837373819.

rs1378373738 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:103375804 (GRCh38)
8:104388032 (GRCh37)
Canonical SPDI:: NC_000008.11:103375803:G:A
Gene:: CTHRC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000008.11:g.103375804G>A, NC_000008.10:g.104388032G>A, NG_031985.1:g.9290G>A, NM_138455.4:c.217G>A, NM_138455.3:c.217G>A, NM_001256099.2:c.175G>A, NM_001256099.1:c.175G>A, XM_011516824.3:c.217G>A, XM_011516824.2:c.217G>A, XM_011516824.1:c.217G>A, NP_612464.1:p.Gly73Ser, NP_001243028.1:p.Gly59Ser, XP_011515126.1:p.Gly73Ser

Select item 137816501920.

rs1378165019 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:103371721 (GRCh38)
8:104383949 (GRCh37)
Canonical SPDI:: NC_000008.11:103371720:T:C
Gene:: CTHRC1 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.103371721T>C, NC_000008.10:g.104383949T>C, NG_031985.1:g.5207T>C, NM_138455.4:c.65T>C, NM_138455.3:c.65T>C, XM_011516824.3:c.65T>C, XM_011516824.2:c.65T>C, XM_011516824.1:c.65T>C, NP_612464.1:p.Leu22Pro, XP_011515126.1:p.Leu22Pro

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