SNP Links for Protein (Select 62243248) - SNP

Links from Protein

Items: 1 to 20 of 311

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Select item 14846460491.

rs1484646049 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:45921113 (GRCh38)
7:45960712 (GRCh37)
Canonical SPDI:: NC_000007.14:45921112:C:A
Gene:: IGFBP3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000023/6 (TOPMED)
A=0.000053/5 (GnomAD_exomes)
A=0.000156/1 (1000Genomes)
A=0.002801/8 (KOREAN)
A=0.002828/5 (Korea1K)
A=0.003646/61 (TOMMO)
HGVS:: NC_000007.14:g.45921113C>A, NC_000007.13:g.45960712C>A, NG_011508.1:g.5160G>T, NM_000598.5:c.28G>T, NM_000598.4:c.28G>T, NM_001013398.2:c.28G>T, NM_001013398.1:c.28G>T, XM_047420325.1:c.28G>T, NP_000589.2:p.Ala10Ser, NP_001013416.1:p.Ala10Ser, XP_047276281.1:p.Ala10Ser

Select item 14832302612.

rs1483230261 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:45920978 (GRCh38)
7:45960577 (GRCh37)
Canonical SPDI:: NC_000007.14:45920977:G:A
Gene:: IGFBP3 (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=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.45920978G>A, NC_000007.13:g.45960577G>A, NG_011508.1:g.5295C>T, NM_000598.5:c.163C>T, NM_000598.4:c.163C>T, NM_001013398.2:c.163C>T, NM_001013398.1:c.163C>T, XM_047420325.1:c.163C>T, NP_000589.2:p.Pro55Ser, NP_001013416.1:p.Pro55Ser, XP_047276281.1:p.Pro55Ser

Select item 14811690043.

rs1481169004 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:45920988 (GRCh38)
7:45960587 (GRCh37)
Canonical SPDI:: NC_000007.14:45920987:G:A
Gene:: IGFBP3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000007.14:g.45920988G>A, NC_000007.13:g.45960587G>A, NG_011508.1:g.5285C>T, NM_000598.5:c.153C>T, NM_000598.4:c.153C>T, NM_001013398.2:c.153C>T, NM_001013398.1:c.153C>T, XM_047420325.1:c.153C>T

Select item 14802359484.

rs1480235948 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:45917368 (GRCh38)
7:45956967 (GRCh37)
Canonical SPDI:: NC_000007.14:45917367:G:A
Gene:: IGFBP3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.45917368G>A, NC_000007.13:g.45956967G>A, NG_011508.1:g.8905C>T, NM_000598.5:c.475C>T, NM_000598.4:c.475C>T, NM_001013398.2:c.493C>T, NM_001013398.1:c.493C>T, XM_047420325.1:c.475C>T, NP_000589.2:p.Arg159Trp, NP_001013416.1:p.Arg165Trp, XP_047276281.1:p.Arg159Trp

Select item 14797820875.

rs1479782087 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:45914940 (GRCh38)
7:45954539 (GRCh37)
Canonical SPDI:: NC_000007.14:45914939:G:A,NC_000007.14:45914939:G:T
Gene:: IGFBP3 (Varview)
Functional Consequence:: 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_000007.14:g.45914940G>A, NC_000007.14:g.45914940G>T, NC_000007.13:g.45954539G>A, NC_000007.13:g.45954539G>T, NG_011508.1:g.11333C>T, NG_011508.1:g.11333C>A, NM_000598.5:c.756C>T, NM_000598.5:c.756C>A, NM_000598.4:c.756C>T, NM_000598.4:c.756C>A, NM_001013398.2:c.774C>T, NM_001013398.2:c.774C>A, NM_001013398.1:c.774C>T, NM_001013398.1:c.774C>A, XM_047420325.1:c.756C>T, XM_047420325.1:c.756C>A

Select item 14706559476.

rs1470655947 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:45920910 (GRCh38)
7:45960509 (GRCh37)
Canonical SPDI:: NC_000007.14:45920909:C:G
Gene:: IGFBP3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.45920910C>G, NC_000007.13:g.45960509C>G, NG_011508.1:g.5363G>C, NM_000598.5:c.231G>C, NM_000598.4:c.231G>C, NM_001013398.2:c.231G>C, NM_001013398.1:c.231G>C, XM_047420325.1:c.231G>C, NP_000589.2:p.Glu77Asp, NP_001013416.1:p.Glu77Asp, XP_047276281.1:p.Glu77Asp

Select item 14694187227.

rs1469418722 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:45920798 (GRCh38)
7:45960397 (GRCh37)
Canonical SPDI:: NC_000007.14:45920797:C:G
Gene:: IGFBP3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.00003/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.45920798C>G, NC_000007.13:g.45960397C>G, NG_011508.1:g.5475G>C, NM_000598.5:c.343G>C, NM_000598.4:c.343G>C, NM_001013398.2:c.343G>C, NM_001013398.1:c.343G>C, XM_047420325.1:c.343G>C, NP_000589.2:p.Val115Leu, NP_001013416.1:p.Val115Leu, XP_047276281.1:p.Val115Leu

Select item 14694103278.

rs1469410327 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:45917270 (GRCh38)
7:45956869 (GRCh37)
Canonical SPDI:: NC_000007.14:45917269:C:T
Gene:: IGFBP3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.45917270C>T, NC_000007.13:g.45956869C>T, NG_011508.1:g.9003G>A, NM_000598.5:c.573G>A, NM_000598.4:c.573G>A, NM_001013398.2:c.591G>A, NM_001013398.1:c.591G>A, XM_047420325.1:c.573G>A

Select item 14638972509.

rs1463897250 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:45921075 (GRCh38)
7:45960674 (GRCh37)
Canonical SPDI:: NC_000007.14:45921074:C:T
Gene:: IGFBP3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
HGVS:: NC_000007.14:g.45921075C>T, NC_000007.13:g.45960674C>T, NG_011508.1:g.5198G>A, NM_000598.5:c.66G>A, NM_000598.4:c.66G>A, NM_001013398.2:c.66G>A, NM_001013398.1:c.66G>A, XM_047420325.1:c.66G>A

Select item 146374984610.

rs1463749846 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 7:45914887 (GRCh38)
7:45954486 (GRCh37)
Canonical SPDI:: NC_000007.14:45914886:T:C,NC_000007.14:45914886:T:G
Gene:: IGFBP3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.45914887T>C, NC_000007.14:g.45914887T>G, NC_000007.13:g.45954486T>C, NC_000007.13:g.45954486T>G, NG_011508.1:g.11386A>G, NG_011508.1:g.11386A>C, NM_000598.5:c.809A>G, NM_000598.5:c.809A>C, NM_000598.4:c.809A>G, NM_000598.4:c.809A>C, NM_001013398.2:c.827A>G, NM_001013398.2:c.827A>C, NM_001013398.1:c.827A>G, NM_001013398.1:c.827A>C, XM_047420325.1:c.809A>G, XM_047420325.1:c.809A>C, NP_000589.2:p.Gln270Arg, NP_000589.2:p.Gln270Pro, NP_001013416.1:p.Gln276Arg, NP_001013416.1:p.Gln276Pro, XP_047276281.1:p.Gln270Arg, XP_047276281.1:p.Gln270Pro

Select item 146195195511.

rs1461951955 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:45921016 (GRCh38)
7:45960615 (GRCh37)
Canonical SPDI:: NC_000007.14:45921015:G:A
Gene:: IGFBP3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by cluster
HGVS:: NC_000007.14:g.45921016G>A, NC_000007.13:g.45960615G>A, NG_011508.1:g.5257C>T, NM_000598.5:c.125C>T, NM_000598.4:c.125C>T, NM_001013398.2:c.125C>T, NM_001013398.1:c.125C>T, XM_047420325.1:c.125C>T, NP_000589.2:p.Pro42Leu, NP_001013416.1:p.Pro42Leu, XP_047276281.1:p.Pro42Leu

Select item 145999872412.

rs1459998724 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:45920880 (GRCh38)
7:45960479 (GRCh37)
Canonical SPDI:: NC_000007.14:45920879:G:A
Gene:: IGFBP3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.00002/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.45920880G>A, NC_000007.13:g.45960479G>A, NG_011508.1:g.5393C>T, NM_000598.5:c.261C>T, NM_000598.4:c.261C>T, NM_001013398.2:c.261C>T, NM_001013398.1:c.261C>T, XM_047420325.1:c.261C>T

Select item 145954220413.

rs1459542204 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:45920967 (GRCh38)
7:45960566 (GRCh37)
Canonical SPDI:: NC_000007.14:45920966:G:A
Gene:: IGFBP3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0./0 (Korea1K)
A=0.00014/2 (TOMMO)
A=0.00221/6 (KOREAN)
HGVS:: NC_000007.14:g.45920967G>A, NC_000007.13:g.45960566G>A, NG_011508.1:g.5306C>T, NM_000598.5:c.174C>T, NM_000598.4:c.174C>T, NM_001013398.2:c.174C>T, NM_001013398.1:c.174C>T, XM_047420325.1:c.174C>T

Select item 145331862214.

rs1453318622 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 7:45920797 (GRCh38)
7:45960396 (GRCh37)
Canonical SPDI:: NC_000007.14:45920796:A:G,NC_000007.14:45920796:A:T
Gene:: IGFBP3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.00046/8 (TOMMO)
HGVS:: NC_000007.14:g.45920797A>G, NC_000007.14:g.45920797A>T, NC_000007.13:g.45960396A>G, NC_000007.13:g.45960396A>T, NG_011508.1:g.5476T>C, NG_011508.1:g.5476T>A, NM_000598.5:c.344T>C, NM_000598.5:c.344T>A, NM_000598.4:c.344T>C, NM_000598.4:c.344T>A, NM_001013398.2:c.344T>C, NM_001013398.2:c.344T>A, NM_001013398.1:c.344T>C, NM_001013398.1:c.344T>A, XM_047420325.1:c.344T>C, XM_047420325.1:c.344T>A, NP_000589.2:p.Val115Ala, NP_000589.2:p.Val115Asp, NP_001013416.1:p.Val115Ala, NP_001013416.1:p.Val115Asp, XP_047276281.1:p.Val115Ala, XP_047276281.1:p.Val115Asp

Select item 145189627915.

rs1451896279 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:45917222 (GRCh38)
7:45956821 (GRCh37)
Canonical SPDI:: NC_000007.14:45917221:C:T
Gene:: IGFBP3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.45917222C>T, NC_000007.13:g.45956821C>T, NG_011508.1:g.9051G>A, NM_000598.5:c.621G>A, NM_000598.4:c.621G>A, NM_001013398.2:c.639G>A, NM_001013398.1:c.639G>A, XM_047420325.1:c.621G>A

Select item 145064005416.

rs1450640054 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:45921122 (GRCh38)
7:45960721 (GRCh37)
Canonical SPDI:: NC_000007.14:45921121:T:C
Gene:: IGFBP3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.45921122T>C, NC_000007.13:g.45960721T>C, NG_011508.1:g.5151A>G, NM_000598.5:c.19A>G, NM_000598.4:c.19A>G, NM_001013398.2:c.19A>G, NM_001013398.1:c.19A>G, XM_047420325.1:c.19A>G, NP_000589.2:p.Thr7Ala, NP_001013416.1:p.Thr7Ala, XP_047276281.1:p.Thr7Ala

Select item 145054806517.

rs1450548065 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:45921055 (GRCh38)
7:45960654 (GRCh37)
Canonical SPDI:: NC_000007.14:45921054:G:A
Gene:: IGFBP3 (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)
HGVS:: NC_000007.14:g.45921055G>A, NC_000007.13:g.45960654G>A, NG_011508.1:g.5218C>T, NM_000598.5:c.86C>T, NM_000598.4:c.86C>T, NM_001013398.2:c.86C>T, NM_001013398.1:c.86C>T, XM_047420325.1:c.86C>T, NP_000589.2:p.Ala29Val, NP_001013416.1:p.Ala29Val, XP_047276281.1:p.Ala29Val

Select item 144885247618.

rs1448852476 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:45920754 (GRCh38)
7:45960353 (GRCh37)
Canonical SPDI:: NC_000007.14:45920753:T:G
Gene:: IGFBP3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.45920754T>G, NC_000007.13:g.45960353T>G, NG_011508.1:g.5519A>C, NM_000598.5:c.387A>C, NM_000598.4:c.387A>C, NM_001013398.2:c.387A>C, NM_001013398.1:c.387A>C, XM_047420325.1:c.387A>C

Select item 144698783719.

rs1446987837 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:45917259 (GRCh38)
7:45956858 (GRCh37)
Canonical SPDI:: NC_000007.14:45917258:G:T
Gene:: IGFBP3 (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_000007.14:g.45917259G>T, NC_000007.13:g.45956858G>T, NG_011508.1:g.9014C>A, NM_000598.5:c.584C>A, NM_000598.4:c.584C>A, NM_001013398.2:c.602C>A, NM_001013398.1:c.602C>A, XM_047420325.1:c.584C>A, NP_000589.2:p.Thr195Lys, NP_001013416.1:p.Thr201Lys, XP_047276281.1:p.Thr195Lys

Select item 144418673920.

rs1444186739 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:45917388 (GRCh38)
7:45956987 (GRCh37)
Canonical SPDI:: NC_000007.14:45917387:G:A,NC_000007.14:45917387:G:T
Gene:: IGFBP3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.45917388G>A, NC_000007.14:g.45917388G>T, NC_000007.13:g.45956987G>A, NC_000007.13:g.45956987G>T, NG_011508.1:g.8885C>T, NG_011508.1:g.8885C>A, NM_000598.5:c.455C>T, NM_000598.5:c.455C>A, NM_000598.4:c.455C>T, NM_000598.4:c.455C>A, NM_001013398.2:c.473C>T, NM_001013398.2:c.473C>A, NM_001013398.1:c.473C>T, NM_001013398.1:c.473C>A, XM_047420325.1:c.455C>T, XM_047420325.1:c.455C>A, NP_000589.2:p.Pro152Leu, NP_000589.2:p.Pro152Gln, NP_001013416.1:p.Pro158Leu, NP_001013416.1:p.Pro158Gln, XP_047276281.1:p.Pro152Leu, XP_047276281.1:p.Pro152Gln

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