SNP Links for Protein (Select 1034654374) - SNP

Links from Protein

Items: 1 to 20 of 1107

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Select item 14888602771.

rs1488860277 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:100813943 (GRCh38)
7:100411565 (GRCh37)
Canonical SPDI:: NC_000007.14:100813942:A:G
Gene:: EPHB4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.100813943A>G, NC_000007.13:g.100411565A>G, NG_052671.1:g.18579T>C, NM_004444.5:c.1667T>C, NM_004444.4:c.1667T>C, XM_017011816.2:c.1721T>C, XM_017011816.1:c.1721T>C, NP_004435.3:p.Ile556Thr, XP_016867305.1:p.Ile574Thr

Select item 14884038922.

rs1488403892 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:100823765 (GRCh38)
7:100421387 (GRCh37)
Canonical SPDI:: NC_000007.14:100823764:C:T
Gene:: EPHB4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.100823765C>T, NC_000007.13:g.100421387C>T, NG_052671.1:g.8757G>A, NM_004444.5:c.290G>A, NM_004444.4:c.290G>A, XM_017011816.2:c.290G>A, XM_017011816.1:c.290G>A, NP_004435.3:p.Cys97Tyr, XP_016867305.1:p.Cys97Tyr

Select item 14865552403.

rs1486555240 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:100822559 (GRCh38)
7:100420181 (GRCh37)
Canonical SPDI:: NC_000007.14:100822558:A:G
Gene:: EPHB4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.100822559A>G, NC_000007.13:g.100420181A>G, NG_052671.1:g.9963T>C, NM_004444.5:c.520T>C, NM_004444.4:c.520T>C, XM_017011816.2:c.520T>C, XM_017011816.1:c.520T>C, NP_004435.3:p.Phe174Leu, XP_016867305.1:p.Phe174Leu

Select item 14854144154.

rs1485414415 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:100812833 (GRCh38)
7:100410455 (GRCh37)
Canonical SPDI:: NC_000007.14:100812832:G:A
Gene:: EPHB4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.100812833G>A, NC_000007.13:g.100410455G>A, NG_052671.1:g.19689C>T, NM_004444.5:c.2032C>T, NM_004444.4:c.2032C>T, XM_017011816.2:c.2086C>T, XM_017011816.1:c.2086C>T, NP_004435.3:p.Arg678Cys, XP_016867305.1:p.Arg696Cys

Select item 14845476155.

rs1484547615 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:100819731 (GRCh38)
7:100417353 (GRCh37)
Canonical SPDI:: NC_000007.14:100819730:C:A,NC_000007.14:100819730:C:T
Gene:: EPHB4 (Varview)
Functional Consequence:: stop_gained,missense_variant,coding_sequence_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.100819731C>A, NC_000007.14:g.100819731C>T, NC_000007.13:g.100417353C>A, NC_000007.13:g.100417353C>T, NG_052671.1:g.12791G>T, NG_052671.1:g.12791G>A, NM_004444.5:c.1123G>T, NM_004444.5:c.1123G>A, NM_004444.4:c.1123G>T, NM_004444.4:c.1123G>A, XM_017011816.2:c.1123G>T, XM_017011816.2:c.1123G>A, XM_017011816.1:c.1123G>T, XM_017011816.1:c.1123G>A, NP_004435.3:p.Gly375Ter, NP_004435.3:p.Gly375Arg, XP_016867305.1:p.Gly375Ter, XP_016867305.1:p.Gly375Arg

Select item 14844956836.

rs1484495683 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:100813203 (GRCh38)
7:100410825 (GRCh37)
Canonical SPDI:: NC_000007.14:100813202:T:C
Gene:: EPHB4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.100813203T>C, NC_000007.13:g.100410825T>C, NG_052671.1:g.19319A>G, NM_004444.5:c.1762A>G, NM_004444.4:c.1762A>G, XM_017011816.2:c.1816A>G, XM_017011816.1:c.1816A>G, NP_004435.3:p.Lys588Glu, XP_016867305.1:p.Lys606Glu

Select item 14820189427.

rs1482018942 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:100807402 (GRCh38)
7:100405024 (GRCh37)
Canonical SPDI:: NC_000007.14:100807401:T:G
Gene:: EPHB4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.100807402T>G, NC_000007.13:g.100405024T>G, NG_052671.1:g.25120A>C, NM_004444.5:c.2297A>C, NM_004444.4:c.2297A>C, XM_017011816.2:c.2351A>C, XM_017011816.1:c.2351A>C, NP_004435.3:p.Glu766Ala, XP_016867305.1:p.Glu784Ala

Select item 14807411588.

rs1480741158 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:100807540 (GRCh38)
7:100405162 (GRCh37)
Canonical SPDI:: NC_000007.14:100807539:A:G
Gene:: EPHB4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.100807540A>G, NC_000007.13:g.100405162A>G, NG_052671.1:g.24982T>C, NM_004444.5:c.2159T>C, NM_004444.4:c.2159T>C, XM_017011816.2:c.2213T>C, XM_017011816.1:c.2213T>C, NP_004435.3:p.Met720Thr, XP_016867305.1:p.Met738Thr

Select item 14802177479.

rs1480217747 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:100805573 (GRCh38)
7:100403195 (GRCh37)
Canonical SPDI:: NC_000007.14:100805572:T:C
Gene:: EPHB4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.100805573T>C, NC_000007.13:g.100403195T>C, NG_052671.1:g.26949A>G, NM_004444.5:c.2606A>G, NM_004444.4:c.2606A>G, XM_017011816.2:c.2660A>G, XM_017011816.1:c.2660A>G, NP_004435.3:p.Gln869Arg, XP_016867305.1:p.Gln887Arg

Select item 147989991510.

rs1479899915 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:100819883 (GRCh38)
7:100417505 (GRCh37)
Canonical SPDI:: NC_000007.14:100819882:G:A,NC_000007.14:100819882:G:T
Gene:: EPHB4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
HGVS:: NC_000007.14:g.100819883G>A, NC_000007.14:g.100819883G>T, NC_000007.13:g.100417505G>A, NC_000007.13:g.100417505G>T, NG_052671.1:g.12639C>T, NG_052671.1:g.12639C>A, NM_004444.5:c.971C>T, NM_004444.5:c.971C>A, NM_004444.4:c.971C>T, NM_004444.4:c.971C>A, XM_017011816.2:c.971C>T, XM_017011816.2:c.971C>A, XM_017011816.1:c.971C>T, XM_017011816.1:c.971C>A, NP_004435.3:p.Pro324Leu, NP_004435.3:p.Pro324His, XP_016867305.1:p.Pro324Leu, XP_016867305.1:p.Pro324His

Select item 147913273811.

rs1479132738 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:100803574 (GRCh38)
7:100401196 (GRCh37)
Canonical SPDI:: NC_000007.14:100803573:C:T
Gene:: EPHB4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.100803574C>T, NC_000007.13:g.100401196C>T, NG_052671.1:g.28948G>A, NM_004444.5:c.2851G>A, NM_004444.4:c.2851G>A, XM_017011816.2:c.2905G>A, XM_017011816.1:c.2905G>A, NP_004435.3:p.Gly951Arg, XP_016867305.1:p.Gly969Arg

Select item 147877922112.

rs1478779221 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 7:100806509 (GRCh38)
7:100404131 (GRCh37)
Canonical SPDI:: NC_000007.14:100806508:AA:A
Gene:: EPHB4 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.100806510del, NC_000007.13:g.100404132del, NG_052671.1:g.26013del, NM_004444.5:c.2395del, NM_004444.4:c.2395del, XM_017011816.2:c.2449del, XM_017011816.1:c.2449del, NP_004435.3:p.Ser799fs, XP_016867305.1:p.Ser817fs

Select item 147735769613.

rs1477357696 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:100813154 (GRCh38)
7:100410776 (GRCh37)
Canonical SPDI:: NC_000007.14:100813153:C:T
Gene:: EPHB4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000318/5 (TOMMO)
T=0.000546/1 (Korea1K)
HGVS:: NC_000007.14:g.100813154C>T, NC_000007.13:g.100410776C>T, NG_052671.1:g.19368G>A, NM_004444.5:c.1811G>A, NM_004444.4:c.1811G>A, XM_017011816.2:c.1865G>A, XM_017011816.1:c.1865G>A, NP_004435.3:p.Arg604Lys, XP_016867305.1:p.Arg622Lys

Select item 147612503414.

rs1476125034 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:100820282 (GRCh38)
7:100417904 (GRCh37)
Canonical SPDI:: NC_000007.14:100820281:T:C
Gene:: EPHB4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.100820282T>C, NC_000007.13:g.100417904T>C, NG_052671.1:g.12240A>G, NM_004444.5:c.823A>G, NM_004444.4:c.823A>G, XM_017011816.2:c.823A>G, XM_017011816.1:c.823A>G, NP_004435.3:p.Thr275Ala, XP_016867305.1:p.Thr275Ala

Select item 147607787615.

rs1476077876 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:100822490 (GRCh38)
7:100420112 (GRCh37)
Canonical SPDI:: NC_000007.14:100822489:A:C
Gene:: EPHB4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.100822490A>C, NC_000007.13:g.100420112A>C, NG_052671.1:g.10032T>G, NM_004444.5:c.589T>G, NM_004444.4:c.589T>G, XM_017011816.2:c.589T>G, XM_017011816.1:c.589T>G, NP_004435.3:p.Cys197Gly, XP_016867305.1:p.Cys197Gly

Select item 147419659616.

rs1474196596 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 7:100805547 (GRCh38)
7:100403169 (GRCh37)
Canonical SPDI:: NC_000007.14:100805546:T:C,NC_000007.14:100805546:T:G
Gene:: EPHB4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000044/1 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.100805547T>C, NC_000007.14:g.100805547T>G, NC_000007.13:g.100403169T>C, NC_000007.13:g.100403169T>G, NG_052671.1:g.26975A>G, NG_052671.1:g.26975A>C, NM_004444.5:c.2632A>G, NM_004444.5:c.2632A>C, NM_004444.4:c.2632A>G, NM_004444.4:c.2632A>C, XM_017011816.2:c.2686A>G, XM_017011816.2:c.2686A>C, XM_017011816.1:c.2686A>G, XM_017011816.1:c.2686A>C, NP_004435.3:p.Ile878Val, NP_004435.3:p.Ile878Leu, XP_016867305.1:p.Ile896Val, XP_016867305.1:p.Ile896Leu

Select item 147417871517.

rs1474178715 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:100818627 (GRCh38)
7:100416249 (GRCh37)
Canonical SPDI:: NC_000007.14:100818626:C:A,NC_000007.14:100818626:C:T
Gene:: EPHB4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.100818627C>A, NC_000007.14:g.100818627C>T, NC_000007.13:g.100416249C>A, NC_000007.13:g.100416249C>T, NG_052671.1:g.13895G>T, NG_052671.1:g.13895G>A, NM_004444.5:c.1315G>T, NM_004444.5:c.1315G>A, NM_004444.4:c.1315G>T, NM_004444.4:c.1315G>A, XM_017011816.2:c.1369G>T, XM_017011816.2:c.1369G>A, XM_017011816.1:c.1369G>T, XM_017011816.1:c.1369G>A, NP_004435.3:p.Asp439Tyr, NP_004435.3:p.Asp439Asn, XP_016867305.1:p.Asp457Tyr, XP_016867305.1:p.Asp457Asn

Select item 147408420218.

rs1474084202 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:100817244 (GRCh38)
7:100414866 (GRCh37)
Canonical SPDI:: NC_000007.14:100817243:C:T
Gene:: EPHB4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.100817244C>T, NC_000007.13:g.100414866C>T, NG_052671.1:g.15278G>A, NM_004444.5:c.1536G>A, NM_004444.4:c.1536G>A, XM_017011816.2:c.1590G>A, XM_017011816.1:c.1590G>A

Select item 147340708319.

rs1473407083 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:100805185 (GRCh38)
7:100402807 (GRCh37)
Canonical SPDI:: NC_000007.14:100805184:C:T
Gene:: EPHB4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.100805185C>T, NC_000007.13:g.100402807C>T, NG_052671.1:g.27337G>A, NM_004444.5:c.2815G>A, NM_004444.4:c.2815G>A, XM_017011816.2:c.2869G>A, XM_017011816.1:c.2869G>A, NP_004435.3:p.Val939Ile, XP_016867305.1:p.Val957Ile

Select item 147284311620.

rs1472843116 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:100817304 (GRCh38)
7:100414926 (GRCh37)
Canonical SPDI:: NC_000007.14:100817303:T:C
Gene:: EPHB4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000019/5 (TOPMED)
C=0.000156/1 (1000Genomes)
HGVS:: NC_000007.14:g.100817304T>C, NC_000007.13:g.100414926T>C, NG_052671.1:g.15218A>G, NM_004444.5:c.1476A>G, NM_004444.4:c.1476A>G, XM_017011816.2:c.1530A>G, XM_017011816.1:c.1530A>G

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