SNP Links for Protein (Select 169808392) - SNP

Links from Protein

Items: 1 to 20 of 374

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Select item 14857543651.

rs1485754365 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:77901198 (GRCh38)
13:78475333 (GRCh37)
Canonical SPDI:: NC_000013.11:77901197:T:C
Gene:: EDNRB (Varview), EDNRB-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_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_000013.11:g.77901198T>C, NC_000013.10:g.78475333T>C, NG_011630.3:g.78526A>G, NM_000115.5:c.811A>G, NM_000115.4:c.811A>G, NM_000115.3:c.811A>G, NM_003991.4:c.811A>G, NM_003991.3:c.811A>G, NM_001122659.3:c.811A>G, NM_001122659.2:c.811A>G, NM_001201397.1:c.1081A>G, NP_000106.1:p.Thr271Ala, NP_003982.1:p.Thr271Ala, NP_001116131.1:p.Thr271Ala, NP_001188326.1:p.Thr361Ala

Select item 14821287262.

rs1482128726 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:77918286 (GRCh38)
13:78492421 (GRCh37)
Canonical SPDI:: NC_000013.11:77918285:G:A
Gene:: EDNRB (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.77918286G>A, NC_000013.10:g.78492421G>A, NG_011630.3:g.61438C>T, NM_000115.5:c.288C>T, NM_000115.4:c.288C>T, NM_000115.3:c.288C>T, NM_003991.4:c.288C>T, NM_003991.3:c.288C>T, NM_001122659.3:c.288C>T, NM_001122659.2:c.288C>T, NM_001201397.1:c.558C>T

Select item 14792413513.

rs1479241351 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 13:77903550 (GRCh38)
13:78477685 (GRCh37)
Canonical SPDI:: NC_000013.11:77903549:G:C
Gene:: EDNRB (Varview), EDNRB-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
HGVS:: NC_000013.11:g.77903550G>C, NC_000013.10:g.78477685G>C, NG_011630.3:g.76174C>G, NM_000115.5:c.541C>G, NM_000115.4:c.541C>G, NM_000115.3:c.541C>G, NM_003991.4:c.541C>G, NM_003991.3:c.541C>G, NM_001122659.3:c.541C>G, NM_001122659.2:c.541C>G, NM_001201397.1:c.811C>G, NP_000106.1:p.Gln181Glu, NP_003982.1:p.Gln181Glu, NP_001116131.1:p.Gln181Glu, NP_001188326.1:p.Gln271Glu

Select item 14762942604.

rs1476294260 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:77898266 (GRCh38)
13:78472401 (GRCh37)
Canonical SPDI:: NC_000013.11:77898265:T:C
Gene:: EDNRB (Varview), EDNRB-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000085/3 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000013.11:g.77898266T>C, NC_000013.10:g.78472401T>C, NG_011630.3:g.81458A>G, NM_000115.5:c.1263A>G, NM_000115.4:c.1263A>G, NM_000115.3:c.1263A>G, NM_001122659.3:c.1263A>G, NM_001122659.2:c.1263A>G, NM_001201397.1:c.1533A>G

Select item 14738051865.

rs1473805186 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 13:77900574 (GRCh38)
13:78474709 (GRCh37)
Canonical SPDI:: NC_000013.11:77900573:A:T
Gene:: EDNRB (Varview), EDNRB-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.77900574A>T, NC_000013.10:g.78474709A>T, NG_011630.3:g.79150T>A, NM_000115.5:c.1032T>A, NM_000115.4:c.1032T>A, NM_000115.3:c.1032T>A, NM_003991.4:c.1032T>A, NM_003991.3:c.1032T>A, NM_001122659.3:c.1032T>A, NM_001122659.2:c.1032T>A, NM_001201397.1:c.1302T>A

Select item 14728484156.

rs1472848415 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:77901066 (GRCh38)
13:78475201 (GRCh37)
Canonical SPDI:: NC_000013.11:77901065:G:A
Gene:: EDNRB (Varview), EDNRB-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.77901066G>A, NC_000013.10:g.78475201G>A, NG_011630.3:g.78658C>T, NM_000115.5:c.943C>T, NM_000115.4:c.943C>T, NM_000115.3:c.943C>T, NM_003991.4:c.943C>T, NM_003991.3:c.943C>T, NM_001122659.3:c.943C>T, NM_001122659.2:c.943C>T, NM_001201397.1:c.1213C>T

Select item 14687204817.

rs1468720481 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:77918569 (GRCh38)
13:78492704 (GRCh37)
Canonical SPDI:: NC_000013.11:77918568:T:C
Gene:: EDNRB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000013.11:g.77918569T>C, NC_000013.10:g.78492704T>C, NG_011630.3:g.61155A>G, NM_000115.5:c.5A>G, NM_000115.4:c.5A>G, NM_000115.3:c.5A>G, NM_003991.4:c.5A>G, NM_003991.3:c.5A>G, NM_001122659.3:c.5A>G, NM_001122659.2:c.5A>G, NM_001201397.1:c.275A>G, NP_000106.1:p.Gln2Arg, NP_003982.1:p.Gln2Arg, NP_001116131.1:p.Gln2Arg, NP_001188326.1:p.Gln92Arg

Select item 14671395058.

rs1467139505 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 13:77918242 (GRCh38)
13:78492377 (GRCh37)
Canonical SPDI:: NC_000013.11:77918241:A:T
Gene:: EDNRB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.77918242A>T, NC_000013.10:g.78492377A>T, NG_011630.3:g.61482T>A, NM_000115.5:c.332T>A, NM_000115.4:c.332T>A, NM_000115.3:c.332T>A, NM_003991.4:c.332T>A, NM_003991.3:c.332T>A, NM_001122659.3:c.332T>A, NM_001122659.2:c.332T>A, NM_001201397.1:c.602T>A, NP_000106.1:p.Val111Glu, NP_003982.1:p.Val111Glu, NP_001116131.1:p.Val111Glu, NP_001188326.1:p.Val201Glu

Select item 14666321769.

rs1466632176 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 13:77899882 (GRCh38)
13:78474017 (GRCh37)
Canonical SPDI:: NC_000013.11:77899881:T:G
Gene:: EDNRB (Varview), EDNRB-AS1 (Varview)
Functional Consequence:: missense_variant,intron_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_000013.11:g.77899882T>G, NC_000013.10:g.78474017T>G, NG_011630.3:g.79842A>C, NM_000115.5:c.1171A>C, NM_000115.4:c.1171A>C, NM_000115.3:c.1171A>C, NM_003991.4:c.1171A>C, NM_003991.3:c.1171A>C, NM_001122659.3:c.1171A>C, NM_001122659.2:c.1171A>C, NM_001201397.1:c.1441A>C, NP_000106.1:p.Lys391Gln, NP_003982.1:p.Lys391Gln, NP_001116131.1:p.Lys391Gln, NP_001188326.1:p.Lys481Gln

Select item 146308855110.

rs1463088551 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:77898215 (GRCh38)
13:78472350 (GRCh37)
Canonical SPDI:: NC_000013.11:77898214:T:C
Gene:: EDNRB (Varview), EDNRB-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.77898215T>C, NC_000013.10:g.78472350T>C, NG_011630.3:g.81509A>G, NM_000115.5:c.1314A>G, NM_000115.4:c.1314A>G, NM_000115.3:c.1314A>G, NM_001122659.3:c.1314A>G, NM_001122659.2:c.1314A>G, NM_001201397.1:c.1584A>G

Select item 145879960411.

rs1458799604 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 13:77903570 (GRCh38)
13:78477705 (GRCh37)
Canonical SPDI:: NC_000013.11:77903569:C:
Gene:: EDNRB (Varview), EDNRB-AS1 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.77903570del, NC_000013.10:g.78477705del, NG_011630.3:g.76154del, NM_000115.5:c.521del, NM_000115.4:c.521del, NM_000115.3:c.521del, NM_003991.4:c.521del, NM_003991.3:c.521del, NM_001122659.3:c.521del, NM_001122659.2:c.521del, NM_001201397.1:c.791del, NP_000106.1:p.Cys174fs, NP_003982.1:p.Cys174fs, NP_001116131.1:p.Cys174fs, NP_001188326.1:p.Cys264fs

Select item 145642359212.

rs1456423592 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:77898275 (GRCh38)
13:78472410 (GRCh37)
Canonical SPDI:: NC_000013.11:77898274:C:T
Gene:: EDNRB (Varview), EDNRB-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.77898275C>T, NC_000013.10:g.78472410C>T, NG_011630.3:g.81449G>A, NM_000115.5:c.1254G>A, NM_000115.4:c.1254G>A, NM_000115.3:c.1254G>A, NM_001122659.3:c.1254G>A, NM_001122659.2:c.1254G>A, NM_001201397.1:c.1524G>A

Select item 145542972013.

rs1455429720 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:77899944 (GRCh38)
13:78474079 (GRCh37)
Canonical SPDI:: NC_000013.11:77899943:A:G
Gene:: EDNRB (Varview), EDNRB-AS1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000013.11:g.77899944A>G, NC_000013.10:g.78474079A>G, NG_011630.3:g.79780T>C, NM_000115.5:c.1109T>C, NM_000115.4:c.1109T>C, NM_000115.3:c.1109T>C, NM_003991.4:c.1109T>C, NM_003991.3:c.1109T>C, NM_001122659.3:c.1109T>C, NM_001122659.2:c.1109T>C, NM_001201397.1:c.1379T>C, NP_000106.1:p.Ile370Thr, NP_003982.1:p.Ile370Thr, NP_001116131.1:p.Ile370Thr, NP_001188326.1:p.Ile460Thr

Select item 145401627314.

rs1454016273 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:77918502 (GRCh38)
13:78492637 (GRCh37)
Canonical SPDI:: NC_000013.11:77918501:G:A
Gene:: EDNRB (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.77918502G>A, NC_000013.10:g.78492637G>A, NG_011630.3:g.61222C>T, NM_000115.5:c.72C>T, NM_000115.4:c.72C>T, NM_000115.3:c.72C>T, NM_003991.4:c.72C>T, NM_003991.3:c.72C>T, NM_001122659.3:c.72C>T, NM_001122659.2:c.72C>T, NM_001201397.1:c.342C>T

Select item 144749895715.

rs1447498957 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 13:77918532 (GRCh38)
13:78492667 (GRCh37)
Canonical SPDI:: NC_000013.11:77918531:C:A
Gene:: EDNRB (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000035/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000013.11:g.77918532C>A, NC_000013.10:g.78492667C>A, NG_011630.3:g.61192G>T, NM_000115.5:c.42G>T, NM_000115.4:c.42G>T, NM_000115.3:c.42G>T, NM_003991.4:c.42G>T, NM_003991.3:c.42G>T, NM_001122659.3:c.42G>T, NM_001122659.2:c.42G>T, NM_001201397.1:c.312G>T

Select item 144731217816.

rs1447312178 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:77918136 (GRCh38)
13:78492271 (GRCh37)
Canonical SPDI:: NC_000013.11:77918135:T:C
Gene:: EDNRB (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000342/1 (KOREAN)
HGVS:: NC_000013.11:g.77918136T>C, NC_000013.10:g.78492271T>C, NG_011630.3:g.61588A>G, NM_000115.5:c.438A>G, NM_000115.4:c.438A>G, NM_000115.3:c.438A>G, NM_003991.4:c.438A>G, NM_003991.3:c.438A>G, NM_001122659.3:c.438A>G, NM_001122659.2:c.438A>G, NM_001201397.1:c.708A>G

Select item 144073386517.

rs1440733865 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 13:77903317 (GRCh38)
13:78477452 (GRCh37)
Canonical SPDI:: NC_000013.11:77903316:C:A,NC_000013.11:77903316:C:T
Gene:: EDNRB (Varview), EDNRB-AS1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.77903317C>A, NC_000013.11:g.77903317C>T, NC_000013.10:g.78477452C>A, NC_000013.10:g.78477452C>T, NG_011630.3:g.76407G>T, NG_011630.3:g.76407G>A, NM_000115.5:c.640G>T, NM_000115.5:c.640G>A, NM_000115.4:c.640G>T, NM_000115.4:c.640G>A, NM_000115.3:c.640G>T, NM_000115.3:c.640G>A, NM_003991.4:c.640G>T, NM_003991.4:c.640G>A, NM_003991.3:c.640G>T, NM_003991.3:c.640G>A, NM_001122659.3:c.640G>T, NM_001122659.3:c.640G>A, NM_001122659.2:c.640G>T, NM_001122659.2:c.640G>A, NM_001201397.1:c.910G>T, NM_001201397.1:c.910G>A, NP_000106.1:p.Val214Phe, NP_000106.1:p.Val214Ile, NP_003982.1:p.Val214Phe, NP_003982.1:p.Val214Ile, NP_001116131.1:p.Val214Phe, NP_001116131.1:p.Val214Ile, NP_001188326.1:p.Val304Phe, NP_001188326.1:p.Val304Ile

Select item 143917789518.

rs1439177895 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 13:77918225 (GRCh38)
13:78492360 (GRCh37)
Canonical SPDI:: NC_000013.11:77918224:T:C,NC_000013.11:77918224:T:G
Gene:: EDNRB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000013.11:g.77918225T>C, NC_000013.11:g.77918225T>G, NC_000013.10:g.78492360T>C, NC_000013.10:g.78492360T>G, NG_011630.3:g.61499A>G, NG_011630.3:g.61499A>C, NM_000115.5:c.349A>G, NM_000115.5:c.349A>C, NM_000115.4:c.349A>G, NM_000115.4:c.349A>C, NM_000115.3:c.349A>G, NM_000115.3:c.349A>C, NM_003991.4:c.349A>G, NM_003991.4:c.349A>C, NM_003991.3:c.349A>G, NM_003991.3:c.349A>C, NM_001122659.3:c.349A>G, NM_001122659.3:c.349A>C, NM_001122659.2:c.349A>G, NM_001122659.2:c.349A>C, NM_001201397.1:c.619A>G, NM_001201397.1:c.619A>C, NP_000106.1:p.Ile117Val, NP_000106.1:p.Ile117Leu, NP_003982.1:p.Ile117Val, NP_003982.1:p.Ile117Leu, NP_001116131.1:p.Ile117Val, NP_001116131.1:p.Ile117Leu, NP_001188326.1:p.Ile207Val, NP_001188326.1:p.Ile207Leu

Select item 143778151619.

rs1437781516 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 13:77900553 (GRCh38)
13:78474688 (GRCh37)
Canonical SPDI:: NC_000013.11:77900552:A:T
Gene:: EDNRB (Varview), EDNRB-AS1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.77900553A>T, NC_000013.10:g.78474688A>T, NG_011630.3:g.79171T>A, NM_000115.5:c.1053T>A, NM_000115.4:c.1053T>A, NM_000115.3:c.1053T>A, NM_003991.4:c.1053T>A, NM_003991.3:c.1053T>A, NM_001122659.3:c.1053T>A, NM_001122659.2:c.1053T>A, NM_001201397.1:c.1323T>A, NP_000106.1:p.Asn351Lys, NP_003982.1:p.Asn351Lys, NP_001116131.1:p.Asn351Lys, NP_001188326.1:p.Asn441Lys

Select item 142590841920.

rs1425908419 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 13:77918314 (GRCh38)
13:78492449 (GRCh37)
Canonical SPDI:: NC_000013.11:77918313:G:T
Gene:: EDNRB (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_000013.11:g.77918314G>T, NC_000013.10:g.78492449G>T, NG_011630.3:g.61410C>A, NM_000115.5:c.260C>A, NM_000115.4:c.260C>A, NM_000115.3:c.260C>A, NM_003991.4:c.260C>A, NM_003991.3:c.260C>A, NM_001122659.3:c.260C>A, NM_001122659.2:c.260C>A, NM_001201397.1:c.530C>A, NP_000106.1:p.Pro87His, NP_003982.1:p.Pro87His, NP_001116131.1:p.Pro87His, NP_001188326.1:p.Pro177His

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