SNP Links for Protein (Select 189491647) - SNP - NCBI

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Links from Protein

Items: 1 to 20 of 438

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Select item 14876013161.

rs1487601316 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:112187485 (GRCh38)
2:112945062 (GRCh37)
Canonical SPDI:: NC_000002.12:112187484:T:C
Gene:: FBLN7 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.112187485T>C, NC_000002.11:g.112945062T>C, XM_006712260.3:c.*478T>C, NM_153214.3:c.1299T>C, NM_153214.2:c.1299T>C, NM_001128165.2:c.1161T>C, NM_001128165.1:c.1161T>C, XM_047443319.1:c.*478T>C

Select item 14854548682.

rs1485454868 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:112165075 (GRCh38)
2:112922652 (GRCh37)
Canonical SPDI:: NC_000002.12:112165074:C:T
Gene:: FBLN7 (Varview)
Functional Consequence:: non_coding_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=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.112165075C>T, NC_000002.11:g.112922652C>T, XM_006712260.3:c.310C>T, XM_006712260.2:c.310C>T, XM_006712260.1:c.310C>T, XM_011510587.3:c.139C>T, XM_011510587.2:c.139C>T, XM_011510587.1:c.139C>T, NM_153214.3:c.310C>T, NM_153214.2:c.310C>T, XM_011510585.2:c.310C>T, XM_011510585.1:c.310C>T, NM_001128165.2:c.310C>T, NM_001128165.1:c.310C>T, XR_007069507.1:n.581C>T, XR_007069508.1:n.581C>T, XM_047443319.1:c.310C>T, XM_047443318.1:c.310C>T, XM_047443320.1:c.310C>T, XP_006712323.1:p.His104Tyr, XP_011508889.1:p.His47Tyr, NP_694946.2:p.His104Tyr, XP_011508887.1:p.His104Tyr, NP_001121637.1:p.His104Tyr, XP_047299275.1:p.His104Tyr, XP_047299274.1:p.His104Tyr, XP_047299276.1:p.His104Tyr

Select item 14811008103.

rs1481100810 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:112187156 (GRCh38)
2:112944733 (GRCh37)
Canonical SPDI:: NC_000002.12:112187155:C:A
Gene:: FBLN7 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.112187156C>A, NC_000002.11:g.112944733C>A, XM_006712260.3:c.*149C>A, XM_011510587.3:c.799C>A, XM_011510587.2:c.799C>A, XM_011510587.1:c.799C>A, NM_153214.3:c.970C>A, NM_153214.2:c.970C>A, XM_011510585.2:c.970C>A, XM_011510585.1:c.970C>A, NM_001128165.2:c.832C>A, NM_001128165.1:c.832C>A, XM_047443319.1:c.*149C>A, XM_047443318.1:c.832C>A, XP_011508889.1:p.Pro267Thr, NP_694946.2:p.Pro324Thr, XP_011508887.1:p.Pro324Thr, NP_001121637.1:p.Pro278Thr, XP_047299274.1:p.Pro278Thr

Select item 14808500794.

rs1480850079 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:112187152 (GRCh38)
2:112944729 (GRCh37)
Canonical SPDI:: NC_000002.12:112187151:C:A,NC_000002.12:112187151:C:T
Gene:: FBLN7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.112187152C>A, NC_000002.12:g.112187152C>T, NC_000002.11:g.112944729C>A, NC_000002.11:g.112944729C>T, XM_006712260.3:c.*145C>A, XM_006712260.3:c.*145C>T, XM_011510587.3:c.795C>A, XM_011510587.3:c.795C>T, XM_011510587.2:c.795C>A, XM_011510587.2:c.795C>T, XM_011510587.1:c.795C>A, XM_011510587.1:c.795C>T, NM_153214.3:c.966C>A, NM_153214.3:c.966C>T, NM_153214.2:c.966C>A, NM_153214.2:c.966C>T, XM_011510585.2:c.966C>A, XM_011510585.2:c.966C>T, XM_011510585.1:c.966C>A, XM_011510585.1:c.966C>T, NM_001128165.2:c.828C>A, NM_001128165.2:c.828C>T, NM_001128165.1:c.828C>A, NM_001128165.1:c.828C>T, XM_047443319.1:c.*145C>A, XM_047443319.1:c.*145C>T, XM_047443318.1:c.828C>A, XM_047443318.1:c.828C>T

Select item 14803205225.

rs1480320522 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:112175832 (GRCh38)
2:112933409 (GRCh37)
Canonical SPDI:: NC_000002.12:112175831:C:G,NC_000002.12:112175831:C:T
Gene:: FBLN7 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.112175832C>G, NC_000002.12:g.112175832C>T, NC_000002.11:g.112933409C>G, NC_000002.11:g.112933409C>T, XM_006712260.3:c.525C>G, XM_006712260.3:c.525C>T, XM_006712260.2:c.525C>G, XM_006712260.2:c.525C>T, XM_006712260.1:c.525C>G, XM_006712260.1:c.525C>T, XM_011510587.3:c.354C>G, XM_011510587.3:c.354C>T, XM_011510587.2:c.354C>G, XM_011510587.2:c.354C>T, XM_011510587.1:c.354C>G, XM_011510587.1:c.354C>T, NM_153214.3:c.525C>G, NM_153214.3:c.525C>T, NM_153214.2:c.525C>G, NM_153214.2:c.525C>T, XM_011510585.2:c.525C>G, XM_011510585.2:c.525C>T, XM_011510585.1:c.525C>G, XM_011510585.1:c.525C>T, NM_001128165.2:c.525C>G, NM_001128165.2:c.525C>T, NM_001128165.1:c.525C>G, NM_001128165.1:c.525C>T, XR_007069507.1:n.796C>G, XR_007069507.1:n.796C>T, XR_007069508.1:n.796C>G, XR_007069508.1:n.796C>T, XM_047443319.1:c.525C>G, XM_047443319.1:c.525C>T, XM_047443318.1:c.525C>G, XM_047443318.1:c.525C>T, XM_047443320.1:c.525C>G, XM_047443320.1:c.525C>T

Select item 14797920176.

rs1479792017 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:112165006 (GRCh38)
2:112922583 (GRCh37)
Canonical SPDI:: NC_000002.12:112165005:T:G
Gene:: FBLN7 (Varview)
Functional Consequence:: non_coding_transcript_variant,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_000002.12:g.112165006T>G, NC_000002.11:g.112922583T>G, XM_006712260.3:c.241T>G, XM_006712260.2:c.241T>G, XM_006712260.1:c.241T>G, XM_011510587.3:c.70T>G, XM_011510587.2:c.70T>G, XM_011510587.1:c.70T>G, NM_153214.3:c.241T>G, NM_153214.2:c.241T>G, XM_011510585.2:c.241T>G, XM_011510585.1:c.241T>G, NM_001128165.2:c.241T>G, NM_001128165.1:c.241T>G, XR_007069507.1:n.512T>G, XR_007069508.1:n.512T>G, XM_047443319.1:c.241T>G, XM_047443318.1:c.241T>G, XM_047443320.1:c.241T>G, XP_006712323.1:p.Cys81Gly, XP_011508889.1:p.Cys24Gly, NP_694946.2:p.Cys81Gly, XP_011508887.1:p.Cys81Gly, NP_001121637.1:p.Cys81Gly, XP_047299275.1:p.Cys81Gly, XP_047299274.1:p.Cys81Gly, XP_047299276.1:p.Cys81Gly

Select item 14793416657.

rs1479341665 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:112138680 (GRCh38)
2:112896257 (GRCh37)
Canonical SPDI:: NC_000002.12:112138679:C:G,NC_000002.12:112138679:C:T
Gene:: FBLN7 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.112138680C>G, NC_000002.12:g.112138680C>T, NC_000002.11:g.112896257C>G, NC_000002.11:g.112896257C>T, XM_006712260.3:c.25C>G, XM_006712260.3:c.25C>T, XM_006712260.2:c.25C>G, XM_006712260.2:c.25C>T, XM_006712260.1:c.25C>G, XM_006712260.1:c.25C>T, NM_153214.3:c.25C>G, NM_153214.3:c.25C>T, NM_153214.2:c.25C>G, NM_153214.2:c.25C>T, XM_011510585.2:c.25C>G, XM_011510585.2:c.25C>T, XM_011510585.1:c.25C>G, XM_011510585.1:c.25C>T, NM_001128165.2:c.25C>G, NM_001128165.2:c.25C>T, NM_001128165.1:c.25C>G, NM_001128165.1:c.25C>T, XR_007069507.1:n.296C>G, XR_007069507.1:n.296C>T, XR_007069508.1:n.296C>G, XR_007069508.1:n.296C>T, XM_047443319.1:c.25C>G, XM_047443319.1:c.25C>T, XM_047443318.1:c.25C>G, XM_047443318.1:c.25C>T, XM_047443320.1:c.25C>G, XM_047443320.1:c.25C>T, XP_006712323.1:p.Leu9Val, XP_006712323.1:p.Leu9Phe, NP_694946.2:p.Leu9Val, NP_694946.2:p.Leu9Phe, XP_011508887.1:p.Leu9Val, XP_011508887.1:p.Leu9Phe, NP_001121637.1:p.Leu9Val, NP_001121637.1:p.Leu9Phe, XP_047299275.1:p.Leu9Val, XP_047299275.1:p.Leu9Phe, XP_047299274.1:p.Leu9Val, XP_047299274.1:p.Leu9Phe, XP_047299276.1:p.Leu9Val, XP_047299276.1:p.Leu9Phe

Select item 14762042328.

rs1476204232 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:112159806 (GRCh38)
2:112917383 (GRCh37)
Canonical SPDI:: NC_000002.12:112159805:T:A
Gene:: FBLN7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000022/4 (GnomAD_exomes)
HGVS:: NC_000002.12:g.112159806T>A, NC_000002.11:g.112917383T>A, XM_006712260.3:c.206T>A, XM_006712260.2:c.206T>A, XM_006712260.1:c.206T>A, XM_011510587.3:c.35T>A, XM_011510587.2:c.35T>A, XM_011510587.1:c.35T>A, NM_153214.3:c.206T>A, NM_153214.2:c.206T>A, XM_011510585.2:c.206T>A, XM_011510585.1:c.206T>A, NM_001128165.2:c.206T>A, NM_001128165.1:c.206T>A, XR_007069507.1:n.477T>A, XR_007069508.1:n.477T>A, XM_047443319.1:c.206T>A, XM_047443318.1:c.206T>A, XM_047443320.1:c.206T>A, XP_006712323.1:p.Val69Glu, XP_011508889.1:p.Val12Glu, NP_694946.2:p.Val69Glu, XP_011508887.1:p.Val69Glu, NP_001121637.1:p.Val69Glu, XP_047299275.1:p.Val69Glu, XP_047299274.1:p.Val69Glu, XP_047299276.1:p.Val69Glu

Select item 14659630559.

rs1465963055 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:112159686 (GRCh38)
2:112917263 (GRCh37)
Canonical SPDI:: NC_000002.12:112159685:G:A
Gene:: FBLN7 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000002.12:g.112159686G>A, NC_000002.11:g.112917263G>A, XM_006712260.3:c.86G>A, XM_006712260.2:c.86G>A, XM_006712260.1:c.86G>A, XM_011510587.3:c.-86G>A, XM_011510587.2:c.-86G>A, XM_011510587.1:c.-86G>A, NM_153214.3:c.86G>A, NM_153214.2:c.86G>A, XM_011510585.2:c.86G>A, XM_011510585.1:c.86G>A, NM_001128165.2:c.86G>A, NM_001128165.1:c.86G>A, XR_007069507.1:n.357G>A, XR_007069508.1:n.357G>A, XM_047443319.1:c.86G>A, XM_047443318.1:c.86G>A, XM_047443320.1:c.86G>A, XP_006712323.1:p.Ser29Asn, NP_694946.2:p.Ser29Asn, XP_011508887.1:p.Ser29Asn, NP_001121637.1:p.Ser29Asn, XP_047299275.1:p.Ser29Asn, XP_047299274.1:p.Ser29Asn, XP_047299276.1:p.Ser29Asn

Select item 146504892210.

rs1465048922 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:112138677 (GRCh38)
2:112896254 (GRCh37)
Canonical SPDI:: NC_000002.12:112138676:G:A
Gene:: FBLN7 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.112138677G>A, NC_000002.11:g.112896254G>A, XM_006712260.3:c.22G>A, XM_006712260.2:c.22G>A, XM_006712260.1:c.22G>A, NM_153214.3:c.22G>A, NM_153214.2:c.22G>A, XM_011510585.2:c.22G>A, XM_011510585.1:c.22G>A, NM_001128165.2:c.22G>A, NM_001128165.1:c.22G>A, XR_007069507.1:n.293G>A, XR_007069508.1:n.293G>A, XM_047443319.1:c.22G>A, XM_047443318.1:c.22G>A, XM_047443320.1:c.22G>A, XP_006712323.1:p.Ala8Thr, NP_694946.2:p.Ala8Thr, XP_011508887.1:p.Ala8Thr, NP_001121637.1:p.Ala8Thr, XP_047299275.1:p.Ala8Thr, XP_047299274.1:p.Ala8Thr, XP_047299276.1:p.Ala8Thr

Select item 146475828811.

rs1464758288 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:112165054 (GRCh38)
2:112922631 (GRCh37)
Canonical SPDI:: NC_000002.12:112165053:T:C
Gene:: FBLN7 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_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)
C=0.000342/1 (KOREAN)
C=0.000389/7 (TOMMO)
HGVS:: NC_000002.12:g.112165054T>C, NC_000002.11:g.112922631T>C, XM_006712260.3:c.289T>C, XM_006712260.2:c.289T>C, XM_006712260.1:c.289T>C, XM_011510587.3:c.118T>C, XM_011510587.2:c.118T>C, XM_011510587.1:c.118T>C, NM_153214.3:c.289T>C, NM_153214.2:c.289T>C, XM_011510585.2:c.289T>C, XM_011510585.1:c.289T>C, NM_001128165.2:c.289T>C, NM_001128165.1:c.289T>C, XR_007069507.1:n.560T>C, XR_007069508.1:n.560T>C, XM_047443319.1:c.289T>C, XM_047443318.1:c.289T>C, XM_047443320.1:c.289T>C, XP_006712323.1:p.Tyr97His, XP_011508889.1:p.Tyr40His, NP_694946.2:p.Tyr97His, XP_011508887.1:p.Tyr97His, NP_001121637.1:p.Tyr97His, XP_047299275.1:p.Tyr97His, XP_047299274.1:p.Tyr97His, XP_047299276.1:p.Tyr97His

Select item 146265075212.

rs1462650752 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:112175745 (GRCh38)
2:112933322 (GRCh37)
Canonical SPDI:: NC_000002.12:112175744:A:G
Gene:: FBLN7 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.112175745A>G, NC_000002.11:g.112933322A>G, XM_006712260.3:c.438A>G, XM_006712260.2:c.438A>G, XM_006712260.1:c.438A>G, XM_011510587.3:c.267A>G, XM_011510587.2:c.267A>G, XM_011510587.1:c.267A>G, NM_153214.3:c.438A>G, NM_153214.2:c.438A>G, XM_011510585.2:c.438A>G, XM_011510585.1:c.438A>G, NM_001128165.2:c.438A>G, NM_001128165.1:c.438A>G, XR_007069507.1:n.709A>G, XR_007069508.1:n.709A>G, XM_047443319.1:c.438A>G, XM_047443318.1:c.438A>G, XM_047443320.1:c.438A>G

Select item 146162149113.

rs1461621491 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:112138681 (GRCh38)
2:112896258 (GRCh37)
Canonical SPDI:: NC_000002.12:112138680:T:A
Gene:: FBLN7 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.112138681T>A, NC_000002.11:g.112896258T>A, XM_006712260.3:c.26T>A, XM_006712260.2:c.26T>A, XM_006712260.1:c.26T>A, NM_153214.3:c.26T>A, NM_153214.2:c.26T>A, XM_011510585.2:c.26T>A, XM_011510585.1:c.26T>A, NM_001128165.2:c.26T>A, NM_001128165.1:c.26T>A, XR_007069507.1:n.297T>A, XR_007069508.1:n.297T>A, XM_047443319.1:c.26T>A, XM_047443318.1:c.26T>A, XM_047443320.1:c.26T>A, XP_006712323.1:p.Leu9His, NP_694946.2:p.Leu9His, XP_011508887.1:p.Leu9His, NP_001121637.1:p.Leu9His, XP_047299275.1:p.Leu9His, XP_047299274.1:p.Leu9His, XP_047299276.1:p.Leu9His

Select item 145663200914.

rs1456632009 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:112159817 (GRCh38)
2:112917394 (GRCh37)
Canonical SPDI:: NC_000002.12:112159816:G:A
Gene:: FBLN7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000002.12:g.112159817G>A, NC_000002.11:g.112917394G>A, XM_006712260.3:c.217G>A, XM_006712260.2:c.217G>A, XM_006712260.1:c.217G>A, XM_011510587.3:c.46G>A, XM_011510587.2:c.46G>A, XM_011510587.1:c.46G>A, NM_153214.3:c.217G>A, NM_153214.2:c.217G>A, XM_011510585.2:c.217G>A, XM_011510585.1:c.217G>A, NM_001128165.2:c.217G>A, NM_001128165.1:c.217G>A, XR_007069507.1:n.488G>A, XR_007069508.1:n.488G>A, XM_047443319.1:c.217G>A, XM_047443318.1:c.217G>A, XM_047443320.1:c.217G>A, XP_006712323.1:p.Gly73Ser, XP_011508889.1:p.Gly16Ser, NP_694946.2:p.Gly73Ser, XP_011508887.1:p.Gly73Ser, NP_001121637.1:p.Gly73Ser, XP_047299275.1:p.Gly73Ser, XP_047299274.1:p.Gly73Ser, XP_047299276.1:p.Gly73Ser

Select item 145241842615.

rs1452418426 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:112165092 (GRCh38)
2:112922669 (GRCh37)
Canonical SPDI:: NC_000002.12:112165091:T:C
Gene:: FBLN7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.112165092T>C, NC_000002.11:g.112922669T>C, XM_006712260.3:c.327T>C, XM_006712260.2:c.327T>C, XM_006712260.1:c.327T>C, XM_011510587.3:c.156T>C, XM_011510587.2:c.156T>C, XM_011510587.1:c.156T>C, NM_153214.3:c.327T>C, NM_153214.2:c.327T>C, XM_011510585.2:c.327T>C, XM_011510585.1:c.327T>C, NM_001128165.2:c.327T>C, NM_001128165.1:c.327T>C, XR_007069507.1:n.598T>C, XR_007069508.1:n.598T>C, XM_047443319.1:c.327T>C, XM_047443318.1:c.327T>C, XM_047443320.1:c.327T>C

Select item 144895642216.

rs1448956422 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:112138721 (GRCh38)
2:112896298 (GRCh37)
Canonical SPDI:: NC_000002.12:112138720:G:A
Gene:: FBLN7 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.112138721G>A, NC_000002.11:g.112896298G>A, XM_006712260.3:c.66G>A, XM_006712260.2:c.66G>A, XM_006712260.1:c.66G>A, NM_153214.3:c.66G>A, NM_153214.2:c.66G>A, XM_011510585.2:c.66G>A, XM_011510585.1:c.66G>A, NM_001128165.2:c.66G>A, NM_001128165.1:c.66G>A, XR_007069507.1:n.337G>A, XR_007069508.1:n.337G>A, XM_047443319.1:c.66G>A, XM_047443318.1:c.66G>A, XM_047443320.1:c.66G>A

Select item 144593966017.

rs1445939660 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:112187371 (GRCh38)
2:112944948 (GRCh37)
Canonical SPDI:: NC_000002.12:112187370:T:C,NC_000002.12:112187370:T:G
Gene:: FBLN7 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.112187371T>C, NC_000002.12:g.112187371T>G, NC_000002.11:g.112944948T>C, NC_000002.11:g.112944948T>G, XM_006712260.3:c.*364T>C, XM_006712260.3:c.*364T>G, XM_011510587.3:c.1014T>C, XM_011510587.3:c.1014T>G, XM_011510587.2:c.1014T>C, XM_011510587.2:c.1014T>G, XM_011510587.1:c.1014T>C, XM_011510587.1:c.1014T>G, NM_153214.3:c.1185T>C, NM_153214.3:c.1185T>G, NM_153214.2:c.1185T>C, NM_153214.2:c.1185T>G, XM_011510585.2:c.1185T>C, XM_011510585.2:c.1185T>G, XM_011510585.1:c.1185T>C, XM_011510585.1:c.1185T>G, NM_001128165.2:c.1047T>C, NM_001128165.2:c.1047T>G, NM_001128165.1:c.1047T>C, NM_001128165.1:c.1047T>G, XM_047443319.1:c.*364T>C, XM_047443319.1:c.*364T>G, XM_047443318.1:c.1047T>C, XM_047443318.1:c.1047T>G, XP_011508889.1:p.Asp338Glu, NP_694946.2:p.Asp395Glu, XP_011508887.1:p.Asp395Glu, NP_001121637.1:p.Asp349Glu, XP_047299274.1:p.Asp349Glu

Select item 144566967518.

rs1445669675 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:112165010 (GRCh38)
2:112922587 (GRCh37)
Canonical SPDI:: NC_000002.12:112165009:C:T
Gene:: FBLN7 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000012/3 (GnomAD_exomes)
T=0.000029/4 (GnomAD)
T=0.00003/8 (TOPMED)
T=0.000546/1 (Korea1K)
HGVS:: NC_000002.12:g.112165010C>T, NC_000002.11:g.112922587C>T, XM_006712260.3:c.245C>T, XM_006712260.2:c.245C>T, XM_006712260.1:c.245C>T, XM_011510587.3:c.74C>T, XM_011510587.2:c.74C>T, XM_011510587.1:c.74C>T, NM_153214.3:c.245C>T, NM_153214.2:c.245C>T, XM_011510585.2:c.245C>T, XM_011510585.1:c.245C>T, NM_001128165.2:c.245C>T, NM_001128165.1:c.245C>T, XR_007069507.1:n.516C>T, XR_007069508.1:n.516C>T, XM_047443319.1:c.245C>T, XM_047443318.1:c.245C>T, XM_047443320.1:c.245C>T, XP_006712323.1:p.Pro82Leu, XP_011508889.1:p.Pro25Leu, NP_694946.2:p.Pro82Leu, XP_011508887.1:p.Pro82Leu, NP_001121637.1:p.Pro82Leu, XP_047299275.1:p.Pro82Leu, XP_047299274.1:p.Pro82Leu, XP_047299276.1:p.Pro82Leu

Select item 144435395319.

rs1444353953 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:112187413 (GRCh38)
2:112944990 (GRCh37)
Canonical SPDI:: NC_000002.12:112187412:G:A
Gene:: FBLN7 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.112187413G>A, NC_000002.11:g.112944990G>A, XM_006712260.3:c.*406G>A, XM_011510587.3:c.1056G>A, XM_011510587.2:c.1056G>A, XM_011510587.1:c.1056G>A, NM_153214.3:c.1227G>A, NM_153214.2:c.1227G>A, XM_011510585.2:c.1227G>A, XM_011510585.1:c.1227G>A, NM_001128165.2:c.1089G>A, NM_001128165.1:c.1089G>A, XM_047443319.1:c.*406G>A, XM_047443318.1:c.1089G>A

Select item 144396691920.

rs1443966919 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:112159809 (GRCh38)
2:112917386 (GRCh37)
Canonical SPDI:: NC_000002.12:112159808:G:A
Gene:: FBLN7 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_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_000002.12:g.112159809G>A, NC_000002.11:g.112917386G>A, XM_006712260.3:c.209G>A, XM_006712260.2:c.209G>A, XM_006712260.1:c.209G>A, XM_011510587.3:c.38G>A, XM_011510587.2:c.38G>A, XM_011510587.1:c.38G>A, NM_153214.3:c.209G>A, NM_153214.2:c.209G>A, XM_011510585.2:c.209G>A, XM_011510585.1:c.209G>A, NM_001128165.2:c.209G>A, NM_001128165.1:c.209G>A, XR_007069507.1:n.480G>A, XR_007069508.1:n.480G>A, XM_047443319.1:c.209G>A, XM_047443318.1:c.209G>A, XM_047443320.1:c.209G>A, XP_006712323.1:p.Gly70Asp, XP_011508889.1:p.Gly13Asp, NP_694946.2:p.Gly70Asp, XP_011508887.1:p.Gly70Asp, NP_001121637.1:p.Gly70Asp, XP_047299275.1:p.Gly70Asp, XP_047299274.1:p.Gly70Asp, XP_047299276.1:p.Gly70Asp

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