SNP Links for Protein (Select 14577917) - SNP

Links from Protein

Items: 1 to 20 of 272

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Select item 14868922961.

rs1486892296 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 19:4236970 (GRCh38)
19:4236967 (GRCh37)
Canonical SPDI:: NC_000019.10:4236969:GGG:GG
Gene:: EBI3 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.4236972del, NC_000019.9:g.4236969del, NM_005755.3:c.574del, NM_005755.2:c.574del, NP_005746.2:p.Ala192fs

Select item 14722293742.

rs1472229374 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:4231193 (GRCh38)
19:4231190 (GRCh37)
Canonical SPDI:: NC_000019.10:4231192:C:A
Gene:: EBI3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.4231193C>A, NC_000019.9:g.4231190C>A, NM_005755.3:c.70C>A, NM_005755.2:c.70C>A, NP_005746.2:p.Pro24Thr

Select item 14664040083.

rs1466404008 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:4231200 (GRCh38)
19:4231197 (GRCh37)
Canonical SPDI:: NC_000019.10:4231199:C:T
Gene:: EBI3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000013/3 (GnomAD_exomes)
HGVS:: NC_000019.10:g.4231200C>T, NC_000019.9:g.4231197C>T, NM_005755.3:c.77C>T, NM_005755.2:c.77C>T, NP_005746.2:p.Ala26Val

Select item 14659960894.

rs1465996089 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:4234803 (GRCh38)
19:4234800 (GRCh37)
Canonical SPDI:: NC_000019.10:4234802:G:A
Gene:: EBI3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.4234803G>A, NC_000019.9:g.4234800G>A, NM_005755.3:c.516G>A, NM_005755.2:c.516G>A

Select item 14560170375.

rs1456017037 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:4233164 (GRCh38)
19:4233161 (GRCh37)
Canonical SPDI:: NC_000019.10:4233163:G:A,NC_000019.10:4233163:G:T
Gene:: EBI3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.4233164G>A, NC_000019.10:g.4233164G>T, NC_000019.9:g.4233161G>A, NC_000019.9:g.4233161G>T, NM_005755.3:c.236G>A, NM_005755.3:c.236G>T, NM_005755.2:c.236G>A, NM_005755.2:c.236G>T, NP_005746.2:p.Cys79Tyr, NP_005746.2:p.Cys79Phe

Select item 14515773366.

rs1451577336 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:4233142 (GRCh38)
19:4233139 (GRCh37)
Canonical SPDI:: NC_000019.10:4233141:G:A
Gene:: EBI3 (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_000019.10:g.4233142G>A, NC_000019.9:g.4233139G>A, NM_005755.3:c.214G>A, NM_005755.2:c.214G>A, NP_005746.2:p.Ala72Thr

Select item 14382798657.

rs1438279865 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:4233249 (GRCh38)
19:4233246 (GRCh37)
Canonical SPDI:: NC_000019.10:4233248:C:G,NC_000019.10:4233248:C:T
Gene:: EBI3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.4233249C>G, NC_000019.10:g.4233249C>T, NC_000019.9:g.4233246C>G, NC_000019.9:g.4233246C>T, NM_005755.3:c.321C>G, NM_005755.3:c.321C>T, NM_005755.2:c.321C>G, NM_005755.2:c.321C>T

Select item 14368171688.

rs1436817168 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:4236975 (GRCh38)
19:4236972 (GRCh37)
Canonical SPDI:: NC_000019.10:4236974:G:C
Gene:: EBI3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.4236975G>C, NC_000019.9:g.4236972G>C, NM_005755.3:c.577G>C, NM_005755.2:c.577G>C, NP_005746.2:p.Val193Leu

Select item 14358052289.

rs1435805228 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:4231279 (GRCh38)
19:4231276 (GRCh37)
Canonical SPDI:: NC_000019.10:4231278:T:C
Gene:: EBI3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000019.10:g.4231279T>C, NC_000019.9:g.4231276T>C, NM_005755.3:c.156T>C, NM_005755.2:c.156T>C

Select item 143396757410.

rs1433967574 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:4229569 (GRCh38)
19:4229566 (GRCh37)
Canonical SPDI:: NC_000019.10:4229568:C:T
Gene:: EBI3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.4229569C>T, NC_000019.9:g.4229566C>T, NM_005755.3:c.19C>T, NM_005755.2:c.19C>T

Select item 143187544811.

rs1431875448 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:4237002 (GRCh38)
19:4236999 (GRCh37)
Canonical SPDI:: NC_000019.10:4237001:C:A
Gene:: EBI3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.4237002C>A, NC_000019.9:g.4236999C>A, NM_005755.3:c.604C>A, NM_005755.2:c.604C>A, NP_005746.2:p.Gln202Lys

Select item 143113889212.

rs1431138892 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:4231199 (GRCh38)
19:4231196 (GRCh37)
Canonical SPDI:: NC_000019.10:4231198:G:A
Gene:: EBI3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.4231199G>A, NC_000019.9:g.4231196G>A, NM_005755.3:c.76G>A, NM_005755.2:c.76G>A, NP_005746.2:p.Ala26Thr

Select item 142987911713.

rs1429879117 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:4233238 (GRCh38)
19:4233235 (GRCh37)
Canonical SPDI:: NC_000019.10:4233237:C:T
Gene:: EBI3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.4233238C>T, NC_000019.9:g.4233235C>T, NM_005755.3:c.310C>T, NM_005755.2:c.310C>T, NP_005746.2:p.Leu104Phe

Select item 141355717914.

rs1413557179 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:4233223 (GRCh38)
19:4233220 (GRCh37)
Canonical SPDI:: NC_000019.10:4233222:A:G
Gene:: EBI3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.4233223A>G, NC_000019.9:g.4233220A>G, NM_005755.3:c.295A>G, NM_005755.2:c.295A>G, NP_005746.2:p.Met99Val

Select item 141241829715.

rs1412418297 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:4234702 (GRCh38)
19:4234699 (GRCh37)
Canonical SPDI:: NC_000019.10:4234701:C:A,NC_000019.10:4234701:C:T
Gene:: EBI3 (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=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.4234702C>A, NC_000019.10:g.4234702C>T, NC_000019.9:g.4234699C>A, NC_000019.9:g.4234699C>T, NM_005755.3:c.415C>A, NM_005755.3:c.415C>T, NM_005755.2:c.415C>A, NM_005755.2:c.415C>T, NP_005746.2:p.Pro139Thr, NP_005746.2:p.Pro139Ser

Select item 140404599016.

rs1404045990 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:4234683 (GRCh38)
19:4234680 (GRCh37)
Canonical SPDI:: NC_000019.10:4234682:A:G
Gene:: EBI3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.4234683A>G, NC_000019.9:g.4234680A>G, NM_005755.3:c.396A>G, NM_005755.2:c.396A>G

Select item 140024916217.

rs1400249162 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 19:4231311 (GRCh38)
19:4231308 (GRCh37)
Canonical SPDI:: NC_000019.10:4231310:TT:T
Gene:: EBI3 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0.000071/1 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.4231312del, NC_000019.9:g.4231309del, NM_005755.3:c.189del, NM_005755.2:c.189del, NP_005746.2:p.Ile63fs

Select item 139601552118.

rs1396015521 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:4236936 (GRCh38)
19:4236933 (GRCh37)
Canonical SPDI:: NC_000019.10:4236935:G:A
Gene:: EBI3 (Varview)
Functional Consequence:: missense_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_000019.10:g.4236936G>A, NC_000019.9:g.4236933G>A, NM_005755.3:c.538G>A, NM_005755.2:c.538G>A, NP_005746.2:p.Val180Met

Select item 139431263519.

rs1394312635 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:4231210 (GRCh38)
19:4231207 (GRCh37)
Canonical SPDI:: NC_000019.10:4231209:A:G
Gene:: EBI3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.4231210A>G, NC_000019.9:g.4231207A>G, NM_005755.3:c.87A>G, NM_005755.2:c.87A>G

Select item 139416872120.

rs1394168721 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:4233297 (GRCh38)
19:4233294 (GRCh37)
Canonical SPDI:: NC_000019.10:4233296:A:G
Gene:: EBI3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.4233297A>G, NC_000019.9:g.4233294A>G, NM_005755.3:c.369A>G, NM_005755.2:c.369A>G

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