SNP Links for Protein (Select 51873053) - SNP

Links from Protein

Items: 1 to 20 of 1485

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Select item 14906048891.

rs1490604889 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:13570844 (GRCh38)
3:13612344 (GRCh37)
Canonical SPDI:: NC_000003.12:13570843:T:C
Gene:: FBLN2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000003.12:g.13570844T>C, NC_000003.11:g.13612344T>C, NM_001998.3:c.489T>C, NM_001998.2:c.489T>C, NM_001165035.2:c.489T>C, NM_001165035.1:c.489T>C, NM_001004019.2:c.489T>C, NM_001004019.1:c.489T>C

Select item 14901995762.

rs1490199576 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:13637751 (GRCh38)
3:13679251 (GRCh37)
Canonical SPDI:: NC_000003.12:13637750:C:T
Gene:: FBLN2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.13637751C>T, NC_000003.11:g.13679251C>T, NM_001998.3:c.3387C>T, NM_001998.2:c.3387C>T, NM_001165035.2:c.3528C>T, NM_001165035.1:c.3528C>T, NM_001004019.2:c.3528C>T, NM_001004019.1:c.3528C>T

Select item 14895638033.

rs1489563803 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:13629876 (GRCh38)
3:13671376 (GRCh37)
Canonical SPDI:: NC_000003.12:13629875:A:C
Gene:: FBLN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.13629876A>C, NC_000003.11:g.13671376A>C, NM_001998.3:c.2758A>C, NM_001998.2:c.2758A>C, NM_001165035.2:c.2899A>C, NM_001165035.1:c.2899A>C, NM_001004019.2:c.2899A>C, NM_001004019.1:c.2899A>C, NP_001989.2:p.Thr920Pro, NP_001158507.1:p.Thr967Pro, NP_001004019.1:p.Thr967Pro

Select item 14894606284.

rs1489460628 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:13629002 (GRCh38)
3:13670502 (GRCh37)
Canonical SPDI:: NC_000003.12:13629001:C:G,NC_000003.12:13629001:C:T
Gene:: FBLN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000106/2 (TOMMO)
HGVS:: NC_000003.12:g.13629002C>G, NC_000003.12:g.13629002C>T, NC_000003.11:g.13670502C>G, NC_000003.11:g.13670502C>T, NM_001998.3:c.2526C>G, NM_001998.3:c.2526C>T, NM_001998.2:c.2526C>G, NM_001998.2:c.2526C>T, NM_001165035.2:c.2667C>G, NM_001165035.2:c.2667C>T, NM_001165035.1:c.2667C>G, NM_001165035.1:c.2667C>T, NM_001004019.2:c.2667C>G, NM_001004019.2:c.2667C>T, NM_001004019.1:c.2667C>G, NM_001004019.1:c.2667C>T, NP_001989.2:p.Ile842Met, NP_001158507.1:p.Ile889Met, NP_001004019.1:p.Ile889Met

Select item 14891256765.

rs1489125676 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:13570374 (GRCh38)
3:13611874 (GRCh37)
Canonical SPDI:: NC_000003.12:13570373:C:T
Gene:: FBLN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000003.12:g.13570374C>T, NC_000003.11:g.13611874C>T, NM_001998.3:c.19C>T, NM_001998.2:c.19C>T, NM_001165035.2:c.19C>T, NM_001165035.1:c.19C>T, NM_001004019.2:c.19C>T, NM_001004019.1:c.19C>T, NP_001989.2:p.Pro7Ser, NP_001158507.1:p.Pro7Ser, NP_001004019.1:p.Pro7Ser

Select item 14870209606.

rs1487020960 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:13630739 (GRCh38)
3:13672239 (GRCh37)
Canonical SPDI:: NC_000003.12:13630738:T:C
Gene:: FBLN2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000003.12:g.13630739T>C, NC_000003.11:g.13672239T>C, NM_001998.3:c.2868T>C, NM_001998.2:c.2868T>C, NM_001165035.2:c.3009T>C, NM_001165035.1:c.3009T>C, NM_001004019.2:c.3009T>C, NM_001004019.1:c.3009T>C

Select item 14864657777.

rs1486465777 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:13618991 (GRCh38)
3:13660491 (GRCh37)
Canonical SPDI:: NC_000003.12:13618990:C:G
Gene:: FBLN2 (Varview), SNORA93 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,downstream_transcript_variant,500B_downstream_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_000003.12:g.13618991C>G, NC_000003.11:g.13660491C>G, NM_001998.3:c.2027C>G, NM_001998.2:c.2027C>G, NM_001165035.2:c.2027C>G, NM_001165035.1:c.2027C>G, NM_001004019.2:c.2027C>G, NM_001004019.1:c.2027C>G, NP_001989.2:p.Pro676Arg, NP_001158507.1:p.Pro676Arg, NP_001004019.1:p.Pro676Arg

Select item 14853342848.

rs1485334284 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:13571470 (GRCh38)
3:13612970 (GRCh37)
Canonical SPDI:: NC_000003.12:13571469:C:T
Gene:: FBLN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000003.12:g.13571470C>T, NC_000003.11:g.13612970C>T, NM_001998.3:c.1115C>T, NM_001998.2:c.1115C>T, NM_001165035.2:c.1115C>T, NM_001165035.1:c.1115C>T, NM_001004019.2:c.1115C>T, NM_001004019.1:c.1115C>T, NP_001989.2:p.Ala372Val, NP_001158507.1:p.Ala372Val, NP_001004019.1:p.Ala372Val

Select item 14842171399.

rs1484217139 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:13571353 (GRCh38)
3:13612853 (GRCh37)
Canonical SPDI:: NC_000003.12:13571352:G:A
Gene:: FBLN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.13571353G>A, NC_000003.11:g.13612853G>A, NM_001998.3:c.998G>A, NM_001998.2:c.998G>A, NM_001165035.2:c.998G>A, NM_001165035.1:c.998G>A, NM_001004019.2:c.998G>A, NM_001004019.1:c.998G>A, NP_001989.2:p.Gly333Glu, NP_001158507.1:p.Gly333Glu, NP_001004019.1:p.Gly333Glu

Select item 148418568510.

rs1484185685 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 3:13571562 (GRCh38)
3:13613062 (GRCh37)
Canonical SPDI:: NC_000003.12:13571561:C:A,NC_000003.12:13571561:C:T
Gene:: FBLN2 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.13571562C>A, NC_000003.12:g.13571562C>T, NC_000003.11:g.13613062C>A, NC_000003.11:g.13613062C>T, NM_001998.3:c.1207C>A, NM_001998.3:c.1207C>T, NM_001998.2:c.1207C>A, NM_001998.2:c.1207C>T, NM_001165035.2:c.1207C>A, NM_001165035.2:c.1207C>T, NM_001165035.1:c.1207C>A, NM_001165035.1:c.1207C>T, NM_001004019.2:c.1207C>A, NM_001004019.2:c.1207C>T, NM_001004019.1:c.1207C>A, NM_001004019.1:c.1207C>T, NP_001989.2:p.Arg403Ter, NP_001158507.1:p.Arg403Ter, NP_001004019.1:p.Arg403Ter

Select item 148383904711.

rs1483839047 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:13629916 (GRCh38)
3:13671416 (GRCh37)
Canonical SPDI:: NC_000003.12:13629915:T:C
Gene:: FBLN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.13629916T>C, NC_000003.11:g.13671416T>C, NM_001998.3:c.2798T>C, NM_001998.2:c.2798T>C, NM_001165035.2:c.2939T>C, NM_001165035.1:c.2939T>C, NM_001004019.2:c.2939T>C, NM_001004019.1:c.2939T>C, NP_001989.2:p.Leu933Pro, NP_001158507.1:p.Leu980Pro, NP_001004019.1:p.Leu980Pro

Select item 148337460612.

rs1483374606 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:13614029 (GRCh38)
3:13655529 (GRCh37)
Canonical SPDI:: NC_000003.12:13614028:G:A
Gene:: FBLN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000003.12:g.13614029G>A, NC_000003.11:g.13655529G>A, NG_074040.1:g.361G>A, NM_001998.3:c.1594G>A, NM_001998.2:c.1594G>A, NM_001165035.2:c.1594G>A, NM_001165035.1:c.1594G>A, NM_001004019.2:c.1594G>A, NM_001004019.1:c.1594G>A, NP_001989.2:p.Gly532Ser, NP_001158507.1:p.Gly532Ser, NP_001004019.1:p.Gly532Ser

Select item 148280414513.

rs1482804145 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:13619000 (GRCh38)
3:13660500 (GRCh37)
Canonical SPDI:: NC_000003.12:13618999:A:G
Gene:: FBLN2 (Varview), SNORA93 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.13619000A>G, NC_000003.11:g.13660500A>G, NM_001998.3:c.2036A>G, NM_001998.2:c.2036A>G, NM_001165035.2:c.2036A>G, NM_001165035.1:c.2036A>G, NM_001004019.2:c.2036A>G, NM_001004019.1:c.2036A>G, NP_001989.2:p.Gln679Arg, NP_001158507.1:p.Gln679Arg, NP_001004019.1:p.Gln679Arg

Select item 148194359014.

rs1481943590 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:13570832 (GRCh38)
3:13612332 (GRCh37)
Canonical SPDI:: NC_000003.12:13570831:C:G
Gene:: FBLN2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: G=0.000008/2 (GnomAD_exomes)
G=0.000342/1 (KOREAN)
G=0.000495/8 (TOMMO)
HGVS:: NC_000003.12:g.13570832C>G, NC_000003.11:g.13612332C>G, NM_001998.3:c.477C>G, NM_001998.2:c.477C>G, NM_001165035.2:c.477C>G, NM_001165035.1:c.477C>G, NM_001004019.2:c.477C>G, NM_001004019.1:c.477C>G

Select item 148156349615.

rs1481563496 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:13570581 (GRCh38)
3:13612081 (GRCh37)
Canonical SPDI:: NC_000003.12:13570580:G:C
Gene:: FBLN2 (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=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.13570581G>C, NC_000003.11:g.13612081G>C, NM_001998.3:c.226G>C, NM_001998.2:c.226G>C, NM_001165035.2:c.226G>C, NM_001165035.1:c.226G>C, NM_001004019.2:c.226G>C, NM_001004019.1:c.226G>C, NP_001989.2:p.Gly76Arg, NP_001158507.1:p.Gly76Arg, NP_001004019.1:p.Gly76Arg

Select item 148080085916.

rs1480800859 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:13571633 (GRCh38)
3:13613133 (GRCh37)
Canonical SPDI:: NC_000003.12:13571632:C:G,NC_000003.12:13571632:C:T
Gene:: FBLN2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000079/2 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.13571633C>G, NC_000003.12:g.13571633C>T, NC_000003.11:g.13613133C>G, NC_000003.11:g.13613133C>T, NM_001998.3:c.1278C>G, NM_001998.3:c.1278C>T, NM_001998.2:c.1278C>G, NM_001998.2:c.1278C>T, NM_001165035.2:c.1278C>G, NM_001165035.2:c.1278C>T, NM_001165035.1:c.1278C>G, NM_001165035.1:c.1278C>T, NM_001004019.2:c.1278C>G, NM_001004019.2:c.1278C>T, NM_001004019.1:c.1278C>G, NM_001004019.1:c.1278C>T

Select item 148055895917.

rs1480558959 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:13571356 (GRCh38)
3:13612856 (GRCh37)
Canonical SPDI:: NC_000003.12:13571355:C:T
Gene:: FBLN2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.13571356C>T, NC_000003.11:g.13612856C>T, NM_001998.3:c.1001C>T, NM_001998.2:c.1001C>T, NM_001165035.2:c.1001C>T, NM_001165035.1:c.1001C>T, NM_001004019.2:c.1001C>T, NM_001004019.1:c.1001C>T, NP_001989.2:p.Ala334Val, NP_001158507.1:p.Ala334Val, NP_001004019.1:p.Ala334Val

Select item 147960758718.

rs1479607587 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:13571003 (GRCh38)
3:13612503 (GRCh37)
Canonical SPDI:: NC_000003.12:13571002:C:T
Gene:: FBLN2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000003.12:g.13571003C>T, NC_000003.11:g.13612503C>T, NM_001998.3:c.648C>T, NM_001998.2:c.648C>T, NM_001165035.2:c.648C>T, NM_001165035.1:c.648C>T, NM_001004019.2:c.648C>T, NM_001004019.1:c.648C>T

Select item 147880430619.

rs1478804306 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:13637794 (GRCh38)
3:13679294 (GRCh37)
Canonical SPDI:: NC_000003.12:13637793:C:T
Gene:: FBLN2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.13637794C>T, NC_000003.11:g.13679294C>T, NM_001998.3:c.3430C>T, NM_001998.2:c.3430C>T, NM_001165035.2:c.3571C>T, NM_001165035.1:c.3571C>T, NM_001004019.2:c.3571C>T, NM_001004019.1:c.3571C>T

Select item 147863689820.

rs1478636898 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:13629041 (GRCh38)
3:13670541 (GRCh37)
Canonical SPDI:: NC_000003.12:13629040:G:A,NC_000003.12:13629040:G:T
Gene:: FBLN2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.13629041G>A, NC_000003.12:g.13629041G>T, NC_000003.11:g.13670541G>A, NC_000003.11:g.13670541G>T, NM_001998.3:c.2565G>A, NM_001998.3:c.2565G>T, NM_001998.2:c.2565G>A, NM_001998.2:c.2565G>T, NM_001165035.2:c.2706G>A, NM_001165035.2:c.2706G>T, NM_001165035.1:c.2706G>A, NM_001165035.1:c.2706G>T, NM_001004019.2:c.2706G>A, NM_001004019.2:c.2706G>T, NM_001004019.1:c.2706G>A, NM_001004019.1:c.2706G>T, NP_001989.2:p.Lys855Asn, NP_001158507.1:p.Lys902Asn, NP_001004019.1:p.Lys902Asn

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