SNP Links for Nucleotide (Select 62912467) - SNP

Select item 14900920781.

rs1490092078 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:207090409 (GRCh38)
1:207263754 (GRCh37)
Canonical SPDI:: NC_000001.11:207090408:C:T
Gene:: C4BPB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.207090409C>T, NC_000001.10:g.207263754C>T, NG_029386.1:g.6543C>T, NM_000716.3:c.160C>T, NM_001017365.3:c.160C>T, NM_001017365.2:c.160C>T, NM_001017365.1:c.160C>T, NM_001017366.3:c.157C>T, NM_001017366.2:c.157C>T, NM_001017366.1:c.157C>T, NM_001017364.1:c.157C>T, NM_001017367.1:c.160C>T, XM_005273254.6:c.160C>T, XM_005273254.5:c.160C>T, XM_005273254.4:c.160C>T, XM_005273254.3:c.160C>T, XM_005273254.2:c.160C>T, XM_005273254.1:c.160C>T, XM_005273255.3:c.157C>T, XM_005273255.2:c.157C>T, XM_005273255.1:c.157C>T, XM_024449464.2:c.157C>T, XM_024449464.1:c.157C>T, XM_047429635.1:c.157C>T, NP_000707.1:p.His54Tyr, NP_001017365.1:p.His54Tyr, NP_001017366.1:p.His53Tyr, NP_001017364.1:p.His53Tyr, NP_001017367.1:p.His54Tyr, XP_005273311.1:p.His54Tyr, XP_005273312.1:p.His53Tyr, XP_024305232.1:p.His53Tyr, XP_047285591.1:p.His53Tyr

Select item 14854522612.

rs1485452261 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:207091694 (GRCh38)
1:207265039 (GRCh37)
Canonical SPDI:: NC_000001.11:207091693:G:A
Gene:: C4BPB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.207091694G>A, NC_000001.10:g.207265039G>A, NG_029386.1:g.7828G>A, NM_000716.3:c.283G>A, NM_001017365.3:c.283G>A, NM_001017365.2:c.283G>A, NM_001017365.1:c.283G>A, NM_001017366.3:c.280G>A, NM_001017366.2:c.280G>A, NM_001017366.1:c.280G>A, NM_001017364.1:c.280G>A, NM_001017367.1:c.283G>A, XM_005273254.6:c.283G>A, XM_005273254.5:c.283G>A, XM_005273254.4:c.283G>A, XM_005273254.3:c.283G>A, XM_005273254.2:c.283G>A, XM_005273254.1:c.283G>A, XM_005273255.3:c.280G>A, XM_005273255.2:c.280G>A, XM_005273255.1:c.280G>A, XM_024449464.2:c.280G>A, XM_024449464.1:c.280G>A, XM_047429635.1:c.280G>A, NP_000707.1:p.Gly95Arg, NP_001017365.1:p.Gly95Arg, NP_001017366.1:p.Gly94Arg, NP_001017364.1:p.Gly94Arg, NP_001017367.1:p.Gly95Arg, XP_005273311.1:p.Gly95Arg, XP_005273312.1:p.Gly94Arg, XP_024305232.1:p.Gly94Arg, XP_047285591.1:p.Gly94Arg

Select item 14848617723.

rs1484861772 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:207089289 (GRCh38)
1:207262634 (GRCh37)
Canonical SPDI:: NC_000001.11:207089288:C:T
Gene:: C4BPB (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.207089289C>T, NC_000001.10:g.207262634C>T, NG_029386.1:g.5423C>T, NM_000716.3:c.-243C>T, NM_001017364.1:c.-243C>T, NM_001017367.1:c.-123C>T, XM_005273254.6:c.-123C>T, XM_005273254.5:c.-123C>T, XM_005273254.4:c.-123C>T, XM_005273254.3:c.-123C>T, XM_005273254.2:c.-123C>T, XM_005273254.1:c.-123C>T, XM_005273255.3:c.-243C>T, XM_024449464.2:c.-123C>T, XM_024449464.1:c.-123C>T, XM_047429635.1:c.-243C>T

Select item 14797875574.

rs1479787557 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:207090319 (GRCh38)
1:207263664 (GRCh37)
Canonical SPDI:: NC_000001.11:207090318:C:G
Gene:: C4BPB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.207090319C>G, NC_000001.10:g.207263664C>G, NG_029386.1:g.6453C>G, NM_000716.3:c.70C>G, NM_001017365.3:c.70C>G, NM_001017365.2:c.70C>G, NM_001017365.1:c.70C>G, NM_001017366.3:c.67C>G, NM_001017366.2:c.67C>G, NM_001017366.1:c.67C>G, NM_001017364.1:c.67C>G, NM_001017367.1:c.70C>G, XM_005273254.6:c.70C>G, XM_005273254.5:c.70C>G, XM_005273254.4:c.70C>G, XM_005273254.3:c.70C>G, XM_005273254.2:c.70C>G, XM_005273254.1:c.70C>G, XM_005273255.3:c.67C>G, XM_005273255.2:c.67C>G, XM_005273255.1:c.67C>G, XM_024449464.2:c.67C>G, XM_024449464.1:c.67C>G, XM_047429635.1:c.67C>G, NP_000707.1:p.Pro24Ala, NP_001017365.1:p.Pro24Ala, NP_001017366.1:p.Pro23Ala, NP_001017364.1:p.Pro23Ala, NP_001017367.1:p.Pro24Ala, XP_005273311.1:p.Pro24Ala, XP_005273312.1:p.Pro23Ala, XP_024305232.1:p.Pro23Ala, XP_047285591.1:p.Pro23Ala

Select item 14739313995.

rs1473931399 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:207098212 (GRCh38)
1:207271557 (GRCh37)
Canonical SPDI:: NC_000001.11:207098211:C:G
Gene:: C4BPB (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_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_000001.11:g.207098212C>G, NC_000001.10:g.207271557C>G, NG_029386.1:g.14346C>G, NM_000716.3:c.566C>G, NM_001017365.3:c.566C>G, NM_001017365.2:c.566C>G, NM_001017365.1:c.566C>G, NM_001017366.3:c.563C>G, NM_001017366.2:c.563C>G, NM_001017366.1:c.563C>G, NM_001017364.1:c.563C>G, NM_001017367.1:c.566C>G, XM_005273254.6:c.566C>G, XM_005273254.5:c.566C>G, XM_005273254.4:c.566C>G, XM_005273254.3:c.566C>G, XM_005273254.2:c.566C>G, XM_005273254.1:c.566C>G, XM_024449464.2:c.563C>G, XM_024449464.1:c.563C>G, XM_047429635.1:c.563C>G, NP_000707.1:p.Pro189Arg, NP_001017365.1:p.Pro189Arg, NP_001017366.1:p.Pro188Arg, NP_001017364.1:p.Pro188Arg, NP_001017367.1:p.Pro189Arg, XP_005273311.1:p.Pro189Arg, XP_024305232.1:p.Pro188Arg, XP_047285591.1:p.Pro188Arg

Select item 14718995106.

rs1471899510 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:207091658 (GRCh38)
1:207265003 (GRCh37)
Canonical SPDI:: NC_000001.11:207091657:G:A
Gene:: C4BPB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000026/7 (TOPMED)
HGVS:: NC_000001.11:g.207091658G>A, NC_000001.10:g.207265003G>A, NG_029386.1:g.7792G>A, NM_000716.3:c.247G>A, NM_001017365.3:c.247G>A, NM_001017365.2:c.247G>A, NM_001017365.1:c.247G>A, NM_001017366.3:c.244G>A, NM_001017366.2:c.244G>A, NM_001017366.1:c.244G>A, NM_001017364.1:c.244G>A, NM_001017367.1:c.247G>A, XM_005273254.6:c.247G>A, XM_005273254.5:c.247G>A, XM_005273254.4:c.247G>A, XM_005273254.3:c.247G>A, XM_005273254.2:c.247G>A, XM_005273254.1:c.247G>A, XM_005273255.3:c.244G>A, XM_005273255.2:c.244G>A, XM_005273255.1:c.244G>A, XM_024449464.2:c.244G>A, XM_024449464.1:c.244G>A, XM_047429635.1:c.244G>A, NP_000707.1:p.Asp83Asn, NP_001017365.1:p.Asp83Asn, NP_001017366.1:p.Asp82Asn, NP_001017364.1:p.Asp82Asn, NP_001017367.1:p.Asp83Asn, XP_005273311.1:p.Asp83Asn, XP_005273312.1:p.Asp82Asn, XP_024305232.1:p.Asp82Asn, XP_047285591.1:p.Asp82Asn

Select item 14700908467.

rs1470090846 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:207089293 (GRCh38)
1:207262638 (GRCh37)
Canonical SPDI:: NC_000001.11:207089292:T:C
Gene:: C4BPB (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.207089293T>C, NC_000001.10:g.207262638T>C, NG_029386.1:g.5427T>C, NM_000716.3:c.-239T>C, NM_001017364.1:c.-239T>C, NM_001017367.1:c.-119T>C, XM_005273254.6:c.-119T>C, XM_005273254.5:c.-119T>C, XM_005273254.4:c.-119T>C, XM_005273254.3:c.-119T>C, XM_005273254.2:c.-119T>C, XM_005273254.1:c.-119T>C, XM_005273255.3:c.-239T>C, XM_024449464.2:c.-119T>C, XM_024449464.1:c.-119T>C, XM_047429635.1:c.-239T>C

Select item 14699716108.

rs1469971610 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:207091724 (GRCh38)
1:207265069 (GRCh37)
Canonical SPDI:: NC_000001.11:207091723:T:C
Gene:: C4BPB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.207091724T>C, NC_000001.10:g.207265069T>C, NG_029386.1:g.7858T>C, NM_000716.3:c.313T>C, NM_001017365.3:c.313T>C, NM_001017365.2:c.313T>C, NM_001017365.1:c.313T>C, NM_001017366.3:c.310T>C, NM_001017366.2:c.310T>C, NM_001017366.1:c.310T>C, NM_001017364.1:c.310T>C, NM_001017367.1:c.313T>C, XM_005273254.6:c.313T>C, XM_005273254.5:c.313T>C, XM_005273254.4:c.313T>C, XM_005273254.3:c.313T>C, XM_005273254.2:c.313T>C, XM_005273254.1:c.313T>C, XM_005273255.3:c.310T>C, XM_005273255.2:c.310T>C, XM_005273255.1:c.310T>C, XM_024449464.2:c.310T>C, XM_024449464.1:c.310T>C, XM_047429635.1:c.310T>C, NP_000707.1:p.Phe105Leu, NP_001017365.1:p.Phe105Leu, NP_001017366.1:p.Phe104Leu, NP_001017364.1:p.Phe104Leu, NP_001017367.1:p.Phe105Leu, XP_005273311.1:p.Phe105Leu, XP_005273312.1:p.Phe104Leu, XP_024305232.1:p.Phe104Leu, XP_047285591.1:p.Phe104Leu

Select item 14688236689.

rs1468823668 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:207091774 (GRCh38)
1:207265119 (GRCh37)
Canonical SPDI:: NC_000001.11:207091773:T:A
Gene:: C4BPB (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.207091774T>A, NC_000001.10:g.207265119T>A, NG_029386.1:g.7908T>A, NM_000716.3:c.363T>A, NM_001017365.3:c.363T>A, NM_001017365.2:c.363T>A, NM_001017365.1:c.363T>A, NM_001017366.3:c.360T>A, NM_001017366.2:c.360T>A, NM_001017366.1:c.360T>A, NM_001017364.1:c.360T>A, NM_001017367.1:c.363T>A, XM_005273254.6:c.363T>A, XM_005273254.5:c.363T>A, XM_005273254.4:c.363T>A, XM_005273254.3:c.363T>A, XM_005273254.2:c.363T>A, XM_005273254.1:c.363T>A, XM_005273255.3:c.360T>A, XM_005273255.2:c.360T>A, XM_005273255.1:c.360T>A, XM_024449464.2:c.360T>A, XM_024449464.1:c.360T>A, XM_047429635.1:c.360T>A, NP_000707.1:p.Cys121Ter, NP_001017365.1:p.Cys121Ter, NP_001017366.1:p.Cys120Ter, NP_001017364.1:p.Cys120Ter, NP_001017367.1:p.Cys121Ter, XP_005273311.1:p.Cys121Ter, XP_005273312.1:p.Cys120Ter, XP_024305232.1:p.Cys120Ter, XP_047285591.1:p.Cys120Ter

Select item 146679646810.

rs1466796468 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:207099794 (GRCh38)
1:207273139 (GRCh37)
Canonical SPDI:: NC_000001.11:207099793:C:T
Gene:: C4BPB (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.207099794C>T, NC_000001.10:g.207273139C>T, NG_029579.1:g.533C>T, NG_029386.1:g.15928C>T, NM_000716.3:c.624C>T, NM_001017365.3:c.624C>T, NM_001017365.2:c.624C>T, NM_001017365.1:c.624C>T, NM_001017366.3:c.621C>T, NM_001017366.2:c.621C>T, NM_001017366.1:c.621C>T, NM_001017364.1:c.621C>T, NM_001017367.1:c.624C>T, XM_005273254.6:c.624C>T, XM_005273254.5:c.624C>T, XM_005273254.4:c.624C>T, XM_005273254.3:c.624C>T, XM_005273254.2:c.624C>T, XM_005273254.1:c.624C>T, XM_024449464.2:c.621C>T, XM_024449464.1:c.621C>T, XM_047429635.1:c.621C>T

Select item 146395733311.

rs1463957333 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:207099866 (GRCh38)
1:207273211 (GRCh37)
Canonical SPDI:: NC_000001.11:207099865:A:G
Gene:: C4BPB (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.207099866A>G, NC_000001.10:g.207273211A>G, NG_029579.1:g.605A>G, NG_029386.1:g.16000A>G, NM_000716.3:c.696A>G, NM_001017365.3:c.696A>G, NM_001017365.2:c.696A>G, NM_001017365.1:c.696A>G, NM_001017366.3:c.693A>G, NM_001017366.2:c.693A>G, NM_001017366.1:c.693A>G, NM_001017364.1:c.693A>G, NM_001017367.1:c.696A>G, XM_005273254.6:c.696A>G, XM_005273254.5:c.696A>G, XM_005273254.4:c.696A>G, XM_005273254.3:c.696A>G, XM_005273254.2:c.696A>G, XM_005273254.1:c.696A>G, XM_024449464.2:c.693A>G, XM_024449464.1:c.693A>G, XM_047429635.1:c.693A>G

Select item 146036240612.

rs1460362406 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:207089510 (GRCh38)
1:207262855 (GRCh37)
Canonical SPDI:: NC_000001.11:207089509:G:A,NC_000001.11:207089509:G:C
Gene:: C4BPB (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.207089510G>A, NC_000001.11:g.207089510G>C, NC_000001.10:g.207262855G>A, NC_000001.10:g.207262855G>C, NG_029386.1:g.5644G>A, NG_029386.1:g.5644G>C, NM_000716.3:c.-22G>A, NM_000716.3:c.-22G>C, NM_001017365.3:c.-22G>A, NM_001017365.3:c.-22G>C, NM_001017365.2:c.-22G>A, NM_001017365.2:c.-22G>C, NM_001017365.1:c.-22G>A, NM_001017365.1:c.-22G>C, NM_001017366.3:c.-22G>A, NM_001017366.3:c.-22G>C, NM_001017366.2:c.-22G>A, NM_001017366.2:c.-22G>C, NM_001017366.1:c.-22G>A, NM_001017366.1:c.-22G>C, NM_001017364.1:c.-22G>A, NM_001017364.1:c.-22G>C, NM_001017367.1:c.-22G>A, NM_001017367.1:c.-22G>C, XM_005273254.6:c.-22G>A, XM_005273254.6:c.-22G>C, XM_005273254.5:c.-22G>A, XM_005273254.5:c.-22G>C, XM_005273254.4:c.-22G>A, XM_005273254.4:c.-22G>C, XM_005273254.3:c.-22G>A, XM_005273254.3:c.-22G>C, XM_005273254.2:c.-22G>A, XM_005273254.2:c.-22G>C, XM_005273254.1:c.-22G>A, XM_005273254.1:c.-22G>C, XM_005273255.3:c.-22G>A, XM_005273255.3:c.-22G>C, XM_005273255.2:c.-22G>A, XM_005273255.2:c.-22G>C, XM_005273255.1:c.-22G>A, XM_005273255.1:c.-22G>C, XM_024449464.2:c.-22G>A, XM_024449464.2:c.-22G>C, XM_024449464.1:c.-22G>A, XM_024449464.1:c.-22G>C, XM_047429635.1:c.-22G>A, XM_047429635.1:c.-22G>C

Select item 146026103313.

rs1460261033 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:207090477 (GRCh38)
1:207263822 (GRCh37)
Canonical SPDI:: NC_000001.11:207090476:C:T
Gene:: C4BPB (Varview)
Functional Consequence:: coding_sequence_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_000001.11:g.207090477C>T, NC_000001.10:g.207263822C>T, NG_029386.1:g.6611C>T, NM_000716.3:c.228C>T, NM_001017365.3:c.228C>T, NM_001017365.2:c.228C>T, NM_001017365.1:c.228C>T, NM_001017366.3:c.225C>T, NM_001017366.2:c.225C>T, NM_001017366.1:c.225C>T, NM_001017364.1:c.225C>T, NM_001017367.1:c.228C>T, XM_005273254.6:c.228C>T, XM_005273254.5:c.228C>T, XM_005273254.4:c.228C>T, XM_005273254.3:c.228C>T, XM_005273254.2:c.228C>T, XM_005273254.1:c.228C>T, XM_005273255.3:c.225C>T, XM_005273255.2:c.225C>T, XM_005273255.1:c.225C>T, XM_024449464.2:c.225C>T, XM_024449464.1:c.225C>T, XM_047429635.1:c.225C>T

Select item 145719662414.

rs1457196624 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:207090466 (GRCh38)
1:207263811 (GRCh37)
Canonical SPDI:: NC_000001.11:207090465:A:G
Gene:: C4BPB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.207090466A>G, NC_000001.10:g.207263811A>G, NG_029386.1:g.6600A>G, NM_000716.3:c.217A>G, NM_001017365.3:c.217A>G, NM_001017365.2:c.217A>G, NM_001017365.1:c.217A>G, NM_001017366.3:c.214A>G, NM_001017366.2:c.214A>G, NM_001017366.1:c.214A>G, NM_001017364.1:c.214A>G, NM_001017367.1:c.217A>G, XM_005273254.6:c.217A>G, XM_005273254.5:c.217A>G, XM_005273254.4:c.217A>G, XM_005273254.3:c.217A>G, XM_005273254.2:c.217A>G, XM_005273254.1:c.217A>G, XM_005273255.3:c.214A>G, XM_005273255.2:c.214A>G, XM_005273255.1:c.214A>G, XM_024449464.2:c.214A>G, XM_024449464.1:c.214A>G, XM_047429635.1:c.214A>G, NP_000707.1:p.Thr73Ala, NP_001017365.1:p.Thr73Ala, NP_001017366.1:p.Thr72Ala, NP_001017364.1:p.Thr72Ala, NP_001017367.1:p.Thr73Ala, XP_005273311.1:p.Thr73Ala, XP_005273312.1:p.Thr72Ala, XP_024305232.1:p.Thr72Ala, XP_047285591.1:p.Thr72Ala

Select item 145079617115.

rs1450796171 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:207091797 (GRCh38)
1:207265142 (GRCh37)
Canonical SPDI:: NC_000001.11:207091796:C:G,NC_000001.11:207091796:C:T
Gene:: C4BPB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.207091797C>G, NC_000001.11:g.207091797C>T, NC_000001.10:g.207265142C>G, NC_000001.10:g.207265142C>T, NG_029386.1:g.7931C>G, NG_029386.1:g.7931C>T, NM_000716.3:c.386C>G, NM_000716.3:c.386C>T, NM_001017365.3:c.386C>G, NM_001017365.3:c.386C>T, NM_001017365.2:c.386C>G, NM_001017365.2:c.386C>T, NM_001017365.1:c.386C>G, NM_001017365.1:c.386C>T, NM_001017366.3:c.383C>G, NM_001017366.3:c.383C>T, NM_001017366.2:c.383C>G, NM_001017366.2:c.383C>T, NM_001017366.1:c.383C>G, NM_001017366.1:c.383C>T, NM_001017364.1:c.383C>G, NM_001017364.1:c.383C>T, NM_001017367.1:c.386C>G, NM_001017367.1:c.386C>T, XM_005273254.6:c.386C>G, XM_005273254.6:c.386C>T, XM_005273254.5:c.386C>G, XM_005273254.5:c.386C>T, XM_005273254.4:c.386C>G, XM_005273254.4:c.386C>T, XM_005273254.3:c.386C>G, XM_005273254.3:c.386C>T, XM_005273254.2:c.386C>G, XM_005273254.2:c.386C>T, XM_005273254.1:c.386C>G, XM_005273254.1:c.386C>T, XM_005273255.3:c.383C>G, XM_005273255.3:c.383C>T, XM_005273255.2:c.383C>G, XM_005273255.2:c.383C>T, XM_005273255.1:c.383C>G, XM_005273255.1:c.383C>T, XM_024449464.2:c.383C>G, XM_024449464.2:c.383C>T, XM_024449464.1:c.383C>G, XM_024449464.1:c.383C>T, XM_047429635.1:c.383C>G, XM_047429635.1:c.383C>T, NP_000707.1:p.Pro129Arg, NP_000707.1:p.Pro129Leu, NP_001017365.1:p.Pro129Arg, NP_001017365.1:p.Pro129Leu, NP_001017366.1:p.Pro128Arg, NP_001017366.1:p.Pro128Leu, NP_001017364.1:p.Pro128Arg, NP_001017364.1:p.Pro128Leu, NP_001017367.1:p.Pro129Arg, NP_001017367.1:p.Pro129Leu, XP_005273311.1:p.Pro129Arg, XP_005273311.1:p.Pro129Leu, XP_005273312.1:p.Pro128Arg, XP_005273312.1:p.Pro128Leu, XP_024305232.1:p.Pro128Arg, XP_024305232.1:p.Pro128Leu, XP_047285591.1:p.Pro128Arg, XP_047285591.1:p.Pro128Leu

Select item 144735194916.

rs1447351949 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:207099865 (GRCh38)
1:207273210 (GRCh37)
Canonical SPDI:: NC_000001.11:207099864:C:G
Gene:: C4BPB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.207099865C>G, NC_000001.10:g.207273210C>G, NG_029579.1:g.604C>G, NG_029386.1:g.15999C>G, NM_000716.3:c.695C>G, NM_001017365.3:c.695C>G, NM_001017365.2:c.695C>G, NM_001017365.1:c.695C>G, NM_001017366.3:c.692C>G, NM_001017366.2:c.692C>G, NM_001017366.1:c.692C>G, NM_001017364.1:c.692C>G, NM_001017367.1:c.695C>G, XM_005273254.6:c.695C>G, XM_005273254.5:c.695C>G, XM_005273254.4:c.695C>G, XM_005273254.3:c.695C>G, XM_005273254.2:c.695C>G, XM_005273254.1:c.695C>G, XM_024449464.2:c.692C>G, XM_024449464.1:c.692C>G, XM_047429635.1:c.692C>G, NP_000707.1:p.Thr232Arg, NP_001017365.1:p.Thr232Arg, NP_001017366.1:p.Thr231Arg, NP_001017364.1:p.Thr231Arg, NP_001017367.1:p.Thr232Arg, XP_005273311.1:p.Thr232Arg, XP_024305232.1:p.Thr231Arg, XP_047285591.1:p.Thr231Arg

Select item 144620987517.

rs1446209875 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:207091646 (GRCh38)
1:207264991 (GRCh37)
Canonical SPDI:: NC_000001.11:207091645:G:A
Gene:: C4BPB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.207091646G>A, NC_000001.10:g.207264991G>A, NG_029386.1:g.7780G>A, NM_000716.3:c.235G>A, NM_001017365.3:c.235G>A, NM_001017365.2:c.235G>A, NM_001017365.1:c.235G>A, NM_001017366.3:c.232G>A, NM_001017366.2:c.232G>A, NM_001017366.1:c.232G>A, NM_001017364.1:c.232G>A, NM_001017367.1:c.235G>A, XM_005273254.6:c.235G>A, XM_005273254.5:c.235G>A, XM_005273254.4:c.235G>A, XM_005273254.3:c.235G>A, XM_005273254.2:c.235G>A, XM_005273254.1:c.235G>A, XM_005273255.3:c.232G>A, XM_005273255.2:c.232G>A, XM_005273255.1:c.232G>A, XM_024449464.2:c.232G>A, XM_024449464.1:c.232G>A, XM_047429635.1:c.232G>A, NP_000707.1:p.Gly79Ser, NP_001017365.1:p.Gly79Ser, NP_001017366.1:p.Gly78Ser, NP_001017364.1:p.Gly78Ser, NP_001017367.1:p.Gly79Ser, XP_005273311.1:p.Gly79Ser, XP_005273312.1:p.Gly78Ser, XP_024305232.1:p.Gly78Ser, XP_047285591.1:p.Gly78Ser

Select item 144187055718.

rs1441870557 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTT>- [Show Flanks]
Chromosome:: 1:207099981 (GRCh38)
1:207273326 (GRCh37)
Canonical SPDI:: NC_000001.11:207099975:TTCTTCTT:TTCTT
Gene:: C4BPB (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: TTCTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.207099978CTT[1], NC_000001.10:g.207273323CTT[1], NG_029579.1:g.717CTT[1], NG_029386.1:g.16112CTT[1], NM_000716.3:c.*49CTT[1], NM_001017365.3:c.*49CTT[1], NM_001017365.2:c.*49CTT[1], NM_001017365.1:c.*49CTT[1], NM_001017366.3:c.*49CTT[1], NM_001017366.2:c.*49CTT[1], NM_001017366.1:c.*49CTT[1], NM_001017364.1:c.*49CTT[1], NM_001017367.1:c.*49CTT[1], XM_005273254.6:c.*49CTT[1], XM_005273254.5:c.*49CTT[1], XM_005273254.4:c.*49CTT[1], XM_005273254.3:c.*49CTT[1], XM_005273254.2:c.*49CTT[1], XM_005273254.1:c.*49CTT[1], XM_024449464.2:c.*49CTT[1], XM_024449464.1:c.*49CTT[1], XM_047429635.1:c.*49CTT[1]

Select item 143731462019.

rs1437314620 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:207089546 (GRCh38)
1:207262891 (GRCh37)
Canonical SPDI:: NC_000001.11:207089545:T:C
Gene:: C4BPB (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.207089546T>C, NC_000001.10:g.207262891T>C, NG_029386.1:g.5680T>C, NM_000716.3:c.15T>C, NM_001017365.3:c.15T>C, NM_001017365.2:c.15T>C, NM_001017365.1:c.15T>C, NM_001017366.3:c.15T>C, NM_001017366.2:c.15T>C, NM_001017366.1:c.15T>C, NM_001017364.1:c.15T>C, NM_001017367.1:c.15T>C, XM_005273254.6:c.15T>C, XM_005273254.5:c.15T>C, XM_005273254.4:c.15T>C, XM_005273254.3:c.15T>C, XM_005273254.2:c.15T>C, XM_005273254.1:c.15T>C, XM_005273255.3:c.15T>C, XM_005273255.2:c.15T>C, XM_005273255.1:c.15T>C, XM_024449464.2:c.15T>C, XM_024449464.1:c.15T>C, XM_047429635.1:c.15T>C

Select item 143665264120.

rs1436652641 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:207098189 (GRCh38)
1:207271534 (GRCh37)
Canonical SPDI:: NC_000001.11:207098188:T:C
Gene:: C4BPB (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.207098189T>C, NC_000001.10:g.207271534T>C, NG_029386.1:g.14323T>C, NM_000716.3:c.543T>C, NM_001017365.3:c.543T>C, NM_001017365.2:c.543T>C, NM_001017365.1:c.543T>C, NM_001017366.3:c.540T>C, NM_001017366.2:c.540T>C, NM_001017366.1:c.540T>C, NM_001017364.1:c.540T>C, NM_001017367.1:c.543T>C, XM_005273254.6:c.543T>C, XM_005273254.5:c.543T>C, XM_005273254.4:c.543T>C, XM_005273254.3:c.543T>C, XM_005273254.2:c.543T>C, XM_005273254.1:c.543T>C, XM_024449464.2:c.540T>C, XM_024449464.1:c.540T>C, XM_047429635.1:c.540T>C

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