SNP Links for Protein (Select 768010712) - SNP

Links from Protein

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Select item 14890409071.

rs1489040907 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:41353009 (GRCh38)
19:41858914 (GRCh37)
Canonical SPDI:: NC_000019.10:41353008:C:A,NC_000019.10:41353008:C:T
Gene:: TGFB1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
HGVS:: NC_000019.10:g.41353009C>A, NC_000019.10:g.41353009C>T, NC_000019.9:g.41858914C>A, NC_000019.9:g.41858914C>T, NG_013364.1:g.5918G>T, NG_013364.1:g.5918G>A, NM_000660.7:c.36G>T, NM_000660.7:c.36G>A, NM_000660.6:c.36G>T, NM_000660.6:c.36G>A, NM_000660.5:c.36G>T, NM_000660.5:c.36G>A, NM_000660.4:c.36G>T, NM_000660.4:c.36G>A, NG_013091.1:g.16165G>T, NG_013091.1:g.16165G>A, XM_011527242.3:c.36G>T, XM_011527242.3:c.36G>A, XM_011527242.2:c.36G>T, XM_011527242.2:c.36G>A, XM_011527242.1:c.36G>T, XM_011527242.1:c.36G>A

Select item 14880324952.

rs1488032495 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:41352897 (GRCh38)
19:41858802 (GRCh37)
Canonical SPDI:: NC_000019.10:41352896:G:A
Gene:: TGFB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000012/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.41352897G>A, NC_000019.9:g.41858802G>A, NG_013364.1:g.6030C>T, NM_000660.7:c.148C>T, NM_000660.6:c.148C>T, NM_000660.5:c.148C>T, NM_000660.4:c.148C>T, NG_013091.1:g.16277C>T, XM_011527242.3:c.148C>T, XM_011527242.2:c.148C>T, XM_011527242.1:c.148C>T, NP_000651.3:p.Arg50Cys, XP_011525544.1:p.Arg50Cys

Select item 14877590913.

rs1487759091 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 19:41352981 (GRCh38)
19:41858886 (GRCh37)
Canonical SPDI:: NC_000019.10:41352980:T:A,NC_000019.10:41352980:T:G
Gene:: TGFB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.41352981T>A, NC_000019.10:g.41352981T>G, NC_000019.9:g.41858886T>A, NC_000019.9:g.41858886T>G, NG_013364.1:g.5946A>T, NG_013364.1:g.5946A>C, NM_000660.7:c.64A>T, NM_000660.7:c.64A>C, NM_000660.6:c.64A>T, NM_000660.6:c.64A>C, NM_000660.5:c.64A>T, NM_000660.5:c.64A>C, NM_000660.4:c.64A>T, NM_000660.4:c.64A>C, NG_013091.1:g.16193A>T, NG_013091.1:g.16193A>C, XM_011527242.3:c.64A>T, XM_011527242.3:c.64A>C, XM_011527242.2:c.64A>T, XM_011527242.2:c.64A>C, XM_011527242.1:c.64A>T, XM_011527242.1:c.64A>C, NP_000651.3:p.Thr22Ser, NP_000651.3:p.Thr22Pro, XP_011525544.1:p.Thr22Ser, XP_011525544.1:p.Thr22Pro

Select item 14847173144.

rs1484717314 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:41352962 (GRCh38)
19:41858867 (GRCh37)
Canonical SPDI:: NC_000019.10:41352961:G:A
Gene:: TGFB1 (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=0.000007/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.41352962G>A, NC_000019.9:g.41858867G>A, NG_013364.1:g.5965C>T, NM_000660.7:c.83C>T, NM_000660.6:c.83C>T, NM_000660.5:c.83C>T, NM_000660.4:c.83C>T, NG_013091.1:g.16212C>T, XM_011527242.3:c.83C>T, XM_011527242.2:c.83C>T, XM_011527242.1:c.83C>T, NP_000651.3:p.Ala28Val, XP_011525544.1:p.Ala28Val

Select item 14831729205.

rs1483172920 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:41331120 (GRCh38)
19:41837025 (GRCh37)
Canonical SPDI:: NC_000019.10:41331119:A:G
Gene:: TGFB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.41331120A>G, NC_000019.9:g.41837025A>G, NG_013364.1:g.27807T>C, NM_000660.7:c.1105T>C, NM_000660.6:c.1105T>C, NM_000660.5:c.1105T>C, NM_000660.4:c.1105T>C, XM_011527242.3:c.1108T>C, XM_011527242.2:c.1108T>C, XM_011527242.1:c.1108T>C, NP_000651.3:p.Tyr369His, XP_011525544.1:p.Tyr370His

Select item 14797486276.

rs1479748627 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:41342219 (GRCh38)
19:41848124 (GRCh37)
Canonical SPDI:: NC_000019.10:41342218:G:A
Gene:: TGFB1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000019.10:g.41342219G>A, NC_000019.9:g.41848124G>A, NG_013364.1:g.16708C>T, NM_000660.7:c.663C>T, NM_000660.6:c.663C>T, NM_000660.5:c.663C>T, NM_000660.4:c.663C>T, XM_011527242.3:c.663C>T, XM_011527242.2:c.663C>T, XM_011527242.1:c.663C>T

Select item 14785705907.

rs1478570590 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:41344819 (GRCh38)
19:41850724 (GRCh37)
Canonical SPDI:: NC_000019.10:41344818:C:T
Gene:: TGFB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.41344819C>T, NC_000019.9:g.41850724C>T, NG_013364.1:g.14108G>A, NM_000660.7:c.562G>A, NM_000660.6:c.562G>A, NM_000660.5:c.562G>A, NM_000660.4:c.562G>A, XM_011527242.3:c.562G>A, XM_011527242.2:c.562G>A, XM_011527242.1:c.562G>A, NP_000651.3:p.Ala188Thr, XP_011525544.1:p.Ala188Thr

Select item 14785215338.

rs1478521533 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:41352965 (GRCh38)
19:41858870 (GRCh37)
Canonical SPDI:: NC_000019.10:41352964:G:A
Gene:: TGFB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.41352965G>A, NC_000019.9:g.41858870G>A, NG_013364.1:g.5962C>T, NM_000660.7:c.80C>T, NM_000660.6:c.80C>T, NM_000660.5:c.80C>T, NM_000660.4:c.80C>T, NG_013091.1:g.16209C>T, XM_011527242.3:c.80C>T, XM_011527242.2:c.80C>T, XM_011527242.1:c.80C>T, NP_000651.3:p.Ala27Val, XP_011525544.1:p.Ala27Val

Select item 14778394899.

rs1477839489 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:41331127 (GRCh38)
19:41837032 (GRCh37)
Canonical SPDI:: NC_000019.10:41331126:G:A,NC_000019.10:41331126:G:T
Gene:: TGFB1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.41331127G>A, NC_000019.10:g.41331127G>T, NC_000019.9:g.41837032G>A, NC_000019.9:g.41837032G>T, NG_013364.1:g.27800C>T, NG_013364.1:g.27800C>A, NM_000660.7:c.1098C>T, NM_000660.7:c.1098C>A, NM_000660.6:c.1098C>T, NM_000660.6:c.1098C>A, NM_000660.5:c.1098C>T, NM_000660.5:c.1098C>A, NM_000660.4:c.1098C>T, NM_000660.4:c.1098C>A, XM_011527242.3:c.1101C>T, XM_011527242.3:c.1101C>A, XM_011527242.2:c.1101C>T, XM_011527242.2:c.1101C>A, XM_011527242.1:c.1101C>T, XM_011527242.1:c.1101C>A

Select item 147626342810.

rs1476263428 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 19:41332193 (GRCh38)
19:41838098 (GRCh37)
Canonical SPDI:: NC_000019.10:41332192:A:
Gene:: TGFB1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.41332193del, NC_000019.9:g.41838098del, NG_013364.1:g.26734del, NM_000660.7:c.949del, NM_000660.6:c.949del, NM_000660.5:c.949del, NM_000660.4:c.949del, XM_011527242.3:c.952del, XM_011527242.2:c.952del, XM_011527242.1:c.952del, NP_000651.3:p.Tyr317fs, XP_011525544.1:p.Tyr318fs

Select item 147010685711.

rs1470106857 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:41348307 (GRCh38)
19:41854212 (GRCh37)
Canonical SPDI:: NC_000019.10:41348306:C:T
Gene:: TGFB1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.41348307C>T, NC_000019.9:g.41854212C>T, NG_013364.1:g.10620G>A, NM_000660.7:c.504G>A, NM_000660.6:c.504G>A, NM_000660.5:c.504G>A, NM_000660.4:c.504G>A, XM_011527242.3:c.504G>A, XM_011527242.2:c.504G>A, XM_011527242.1:c.504G>A

Select item 146769727612.

rs1467697276 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:41352924 (GRCh38)
19:41858829 (GRCh37)
Canonical SPDI:: NC_000019.10:41352923:C:A,NC_000019.10:41352923:C:T
Gene:: TGFB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.00014/2 (TOMMO)
HGVS:: NC_000019.10:g.41352924C>A, NC_000019.10:g.41352924C>T, NC_000019.9:g.41858829C>A, NC_000019.9:g.41858829C>T, NG_013364.1:g.6003G>T, NG_013364.1:g.6003G>A, NM_000660.7:c.121G>T, NM_000660.7:c.121G>A, NM_000660.6:c.121G>T, NM_000660.6:c.121G>A, NM_000660.5:c.121G>T, NM_000660.5:c.121G>A, NM_000660.4:c.121G>T, NM_000660.4:c.121G>A, NG_013091.1:g.16250G>T, NG_013091.1:g.16250G>A, XM_011527242.3:c.121G>T, XM_011527242.3:c.121G>A, XM_011527242.2:c.121G>T, XM_011527242.2:c.121G>A, XM_011527242.1:c.121G>T, XM_011527242.1:c.121G>A, NP_000651.3:p.Val41Leu, NP_000651.3:p.Val41Met, XP_011525544.1:p.Val41Leu, XP_011525544.1:p.Val41Met

Select item 146247219313.

rs1462472193 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:41344826 (GRCh38)
19:41850731 (GRCh37)
Canonical SPDI:: NC_000019.10:41344825:C:T
Gene:: TGFB1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000019.10:g.41344826C>T, NC_000019.9:g.41850731C>T, NG_013364.1:g.14101G>A, NM_000660.7:c.555G>A, NM_000660.6:c.555G>A, NM_000660.5:c.555G>A, NM_000660.4:c.555G>A, XM_011527242.3:c.555G>A, XM_011527242.2:c.555G>A, XM_011527242.1:c.555G>A

Select item 146002751514.

rs1460027515 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:41352832 (GRCh38)
19:41858737 (GRCh37)
Canonical SPDI:: NC_000019.10:41352831:G:A,NC_000019.10:41352831:G:T
Gene:: TGFB1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.000011/2 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.41352832G>A, NC_000019.10:g.41352832G>T, NC_000019.9:g.41858737G>A, NC_000019.9:g.41858737G>T, NG_013364.1:g.6095C>T, NG_013364.1:g.6095C>A, NM_000660.7:c.213C>T, NM_000660.7:c.213C>A, NM_000660.6:c.213C>T, NM_000660.6:c.213C>A, NM_000660.5:c.213C>T, NM_000660.5:c.213C>A, NM_000660.4:c.213C>T, NM_000660.4:c.213C>A, NG_013091.1:g.16342C>T, NG_013091.1:g.16342C>A, XM_011527242.3:c.213C>T, XM_011527242.3:c.213C>A, XM_011527242.2:c.213C>T, XM_011527242.2:c.213C>A, XM_011527242.1:c.213C>T, XM_011527242.1:c.213C>A

Select item 145579146715.

rs1455791467 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:41331087 (GRCh38)
19:41836992 (GRCh37)
Canonical SPDI:: NC_000019.10:41331086:A:G
Gene:: TGFB1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.41331087A>G, NC_000019.9:g.41836992A>G, NG_013364.1:g.27840T>C, NM_000660.7:c.1138T>C, NM_000660.6:c.1138T>C, NM_000660.5:c.1138T>C, NM_000660.4:c.1138T>C, XM_011527242.3:c.1141T>C, XM_011527242.2:c.1141T>C, XM_011527242.1:c.1141T>C, NP_000651.3:p.Ser380Pro, XP_011525544.1:p.Ser381Pro

Select item 145428439116.

rs1454284391 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:41331094 (GRCh38)
19:41836999 (GRCh37)
Canonical SPDI:: NC_000019.10:41331093:C:T
Gene:: TGFB1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.00001/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.41331094C>T, NC_000019.9:g.41836999C>T, NG_013364.1:g.27833G>A, NM_000660.7:c.1131G>A, NM_000660.6:c.1131G>A, NM_000660.5:c.1131G>A, NM_000660.4:c.1131G>A, XM_011527242.3:c.1134G>A, XM_011527242.2:c.1134G>A, XM_011527242.1:c.1134G>A

Select item 145420585417.

rs1454205854 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:41342170 (GRCh38)
19:41848075 (GRCh37)
Canonical SPDI:: NC_000019.10:41342169:C:A,NC_000019.10:41342169:C:T
Gene:: TGFB1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.41342170C>A, NC_000019.10:g.41342170C>T, NC_000019.9:g.41848075C>A, NC_000019.9:g.41848075C>T, NG_013364.1:g.16757G>T, NG_013364.1:g.16757G>A, NM_000660.7:c.712G>T, NM_000660.7:c.712G>A, NM_000660.6:c.712G>T, NM_000660.6:c.712G>A, NM_000660.5:c.712G>T, NM_000660.5:c.712G>A, NM_000660.4:c.712G>T, NM_000660.4:c.712G>A, XM_011527242.3:c.712G>T, XM_011527242.3:c.712G>A, XM_011527242.2:c.712G>T, XM_011527242.2:c.712G>A, XM_011527242.1:c.712G>T, XM_011527242.1:c.712G>A, NP_000651.3:p.Gly238Trp, NP_000651.3:p.Gly238Arg, XP_011525544.1:p.Ala238Ser, XP_011525544.1:p.Ala238Thr

Select item 145347107618.

rs1453471076 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:41352824 (GRCh38)
19:41858729 (GRCh37)
Canonical SPDI:: NC_000019.10:41352823:G:A
Gene:: TGFB1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.41352824G>A, NC_000019.9:g.41858729G>A, NG_013364.1:g.6103C>T, NM_000660.7:c.221C>T, NM_000660.6:c.221C>T, NM_000660.5:c.221C>T, NM_000660.4:c.221C>T, NG_013091.1:g.16350C>T, XM_011527242.3:c.221C>T, XM_011527242.2:c.221C>T, XM_011527242.1:c.221C>T, NP_000651.3:p.Pro74Leu, XP_011525544.1:p.Pro74Leu

Select item 145307059519.

rs1453070595 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:41348401 (GRCh38)
19:41854306 (GRCh37)
Canonical SPDI:: NC_000019.10:41348400:G:A,NC_000019.10:41348400:G:T
Gene:: TGFB1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000008/2 (GnomAD_exomes)
A=0.000071/1 (TOMMO)
HGVS:: NC_000019.10:g.41348401G>A, NC_000019.10:g.41348401G>T, NC_000019.9:g.41854306G>A, NC_000019.9:g.41854306G>T, NG_013364.1:g.10526C>T, NG_013364.1:g.10526C>A, NM_000660.7:c.410C>T, NM_000660.7:c.410C>A, NM_000660.6:c.410C>T, NM_000660.6:c.410C>A, NM_000660.5:c.410C>T, NM_000660.5:c.410C>A, NM_000660.4:c.410C>T, NM_000660.4:c.410C>A, XM_011527242.3:c.410C>T, XM_011527242.3:c.410C>A, XM_011527242.2:c.410C>T, XM_011527242.2:c.410C>A, XM_011527242.1:c.410C>T, XM_011527242.1:c.410C>A, NP_000651.3:p.Thr137Ile, NP_000651.3:p.Thr137Lys, XP_011525544.1:p.Thr137Ile, XP_011525544.1:p.Thr137Lys

Select item 144744309720.

rs1447443097 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:41331088 (GRCh38)
19:41836993 (GRCh37)
Canonical SPDI:: NC_000019.10:41331087:C:T
Gene:: TGFB1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000528/8 (ALFA)
T=0.000036/5 (GnomAD)
T=0.001786/8 (Estonian)
HGVS:: NC_000019.10:g.41331088C>T, NC_000019.9:g.41836993C>T, NG_013364.1:g.27839G>A, NM_000660.7:c.1137G>A, NM_000660.6:c.1137G>A, NM_000660.5:c.1137G>A, NM_000660.4:c.1137G>A, XM_011527242.3:c.1140G>A, XM_011527242.2:c.1140G>A, XM_011527242.1:c.1140G>A

dbSNP

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