SNP Links for Protein (Select 4557819) - SNP

Links from Protein

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Select item 14882328641.

rs1488232864 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:102843743 (GRCh38)
12:103237521 (GRCh37)
Canonical SPDI:: NC_000012.12:102843742:C:G,NC_000012.12:102843742:C:T
Gene:: PAH (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Clinical significance:: likely-pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.102843743C>G, NC_000012.12:g.102843743C>T, NC_000012.11:g.103237521C>G, NC_000012.11:g.103237521C>T, NG_008690.2:g.119668G>C, NG_008690.2:g.119668G>A, NM_000277.3:c.1102G>C, NM_000277.3:c.1102G>A, NM_000277.2:c.1102G>C, NM_000277.2:c.1102G>A, NM_000277.1:c.1102G>C, NM_000277.1:c.1102G>A, NM_001354304.2:c.1102G>C, NM_001354304.2:c.1102G>A, NM_001354304.1:c.1102G>C, NM_001354304.1:c.1102G>A, NP_000268.1:p.Glu368Gln, NP_000268.1:p.Glu368Lys, NP_001341233.1:p.Glu368Gln, NP_001341233.1:p.Glu368Lys

Select item 14867631602.

rs1486763160 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:102851731 (GRCh38)
12:103245509 (GRCh37)
Canonical SPDI:: NC_000012.12:102851730:G:A
Gene:: PAH (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Clinical significance:: likely-pathogenic
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.102851731G>A, NC_000012.11:g.103245509G>A, NG_008690.2:g.111680C>T, NM_000277.3:c.868C>T, NM_000277.2:c.868C>T, NM_000277.1:c.868C>T, NM_001354304.2:c.868C>T, NM_001354304.1:c.868C>T, NP_000268.1:p.His290Tyr, NP_001341233.1:p.His290Tyr

Select item 14828206323.

rs1482820632 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:102840470 (GRCh38)
12:103234248 (GRCh37)
Canonical SPDI:: NC_000012.12:102840469:G:A
Gene:: PAH (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.102840470G>A, NC_000012.11:g.103234248G>A, NG_008690.2:g.122941C>T, NM_000277.3:c.1245C>T, NM_000277.2:c.1245C>T, NM_000277.1:c.1245C>T, NM_001354304.2:c.1245C>T, NM_001354304.1:c.1245C>T

Select item 14665642084.

rs1466564208 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:102877539 (GRCh38)
12:103271317 (GRCh37)
Canonical SPDI:: NC_000012.12:102877538:G:A,NC_000012.12:102877538:G:C
Gene:: PAH (Varview), LOC124902999 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Clinical significance:: likely-pathogenic
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
C=0.000035/1 (TOMMO)
HGVS:: NC_000012.12:g.102877539G>A, NC_000012.12:g.102877539G>C, NC_000012.11:g.103271317G>A, NC_000012.11:g.103271317G>C, NG_008690.2:g.85872C>T, NG_008690.2:g.85872C>G, NM_000277.3:c.364C>T, NM_000277.3:c.364C>G, NM_000277.2:c.364C>T, NM_000277.2:c.364C>G, NM_000277.1:c.364C>T, NM_000277.1:c.364C>G, NM_001354304.2:c.364C>T, NM_001354304.2:c.364C>G, NM_001354304.1:c.364C>T, NM_001354304.1:c.364C>G, XM_017019370.2:c.364C>T, XM_017019370.2:c.364C>G, XM_017019370.1:c.364C>T, XM_017019370.1:c.364C>G, NP_000268.1:p.Pro122Ser, NP_000268.1:p.Pro122Ala, NP_001341233.1:p.Pro122Ser, NP_001341233.1:p.Pro122Ala, XP_016874859.1:p.Pro122Ser, XP_016874859.1:p.Pro122Ala

Select item 14597765525.

rs1459776552 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:102855197 (GRCh38)
12:103248975 (GRCh37)
Canonical SPDI:: NC_000012.12:102855196:C:T
Gene:: PAH (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.102855197C>T, NC_000012.11:g.103248975C>T, NG_008690.2:g.108214G>A, NM_000277.3:c.645G>A, NM_000277.2:c.645G>A, NM_000277.1:c.645G>A, NM_001354304.2:c.645G>A, NM_001354304.1:c.645G>A, XM_017019370.2:c.645G>A, XM_017019370.1:c.645G>A

Select item 14577364106.

rs1457736410 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:102840490 (GRCh38)
12:103234268 (GRCh37)
Canonical SPDI:: NC_000012.12:102840489:G:A
Gene:: PAH (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.102840490G>A, NC_000012.11:g.103234268G>A, NG_008690.2:g.122921C>T, NM_000277.3:c.1225C>T, NM_000277.2:c.1225C>T, NM_000277.1:c.1225C>T, NM_001354304.2:c.1225C>T, NM_001354304.1:c.1225C>T, NP_000268.1:p.Pro409Ser, NP_001341233.1:p.Pro409Ser

Select item 14518959797.

rs1451895979 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:102917123 (GRCh38)
12:103310901 (GRCh37)
Canonical SPDI:: NC_000012.12:102917122:G:A
Gene:: PAH (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.102917123G>A, NC_000012.11:g.103310901G>A, NG_008690.2:g.46288C>T, NM_000277.3:c.8C>T, NM_000277.2:c.8C>T, NM_000277.1:c.8C>T, NM_001354304.2:c.8C>T, NM_001354304.1:c.8C>T, XM_017019370.2:c.8C>T, XM_017019370.1:c.8C>T, NP_000268.1:p.Thr3Ile, NP_001341233.1:p.Thr3Ile, XP_016874859.1:p.Thr3Ile

Select item 14494065388.

rs1449406538 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:102846937 (GRCh38)
12:103240715 (GRCh37)
Canonical SPDI:: NC_000012.12:102846936:G:A
Gene:: PAH (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.102846937G>A, NC_000012.11:g.103240715G>A, NG_008690.2:g.116474C>T, NM_000277.3:c.927C>T, NM_000277.2:c.927C>T, NM_000277.1:c.927C>T, NM_001354304.2:c.927C>T, NM_001354304.1:c.927C>T

Select item 14487203609.

rs1448720360 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:102855310 (GRCh38)
12:103249088 (GRCh37)
Canonical SPDI:: NC_000012.12:102855309:C:T
Gene:: PAH (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance,pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000061/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000012.12:g.102855310C>T, NC_000012.11:g.103249088C>T, NG_008690.2:g.108101G>A, NM_000277.3:c.532G>A, NM_000277.2:c.532G>A, NM_000277.1:c.532G>A, NM_001354304.2:c.532G>A, NM_001354304.1:c.532G>A, XM_017019370.2:c.532G>A, XM_017019370.1:c.532G>A, NP_000268.1:p.Glu178Lys, NP_001341233.1:p.Glu178Lys, XP_016874859.1:p.Glu178Lys

Select item 144750317810.

rs1447503178 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:102839212 (GRCh38)
12:103232990 (GRCh37)
Canonical SPDI:: NC_000012.12:102839211:A:G
Gene:: PAH (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.102839212A>G, NC_000012.11:g.103232990A>G, NG_008690.2:g.124199T>C, NM_000277.3:c.1322T>C, NM_000277.2:c.1322T>C, NM_000277.1:c.1322T>C, NM_001354304.2:c.1322T>C, NM_001354304.1:c.1322T>C, NP_000268.1:p.Ile441Thr, NP_001341233.1:p.Ile441Thr

Select item 144589308811.

rs1445893088 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:102840468 (GRCh38)
12:103234246 (GRCh37)
Canonical SPDI:: NC_000012.12:102840467:G:A,NC_000012.12:102840467:G:T
Gene:: PAH (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Clinical significance:: likely-pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.102840468G>A, NC_000012.12:g.102840468G>T, NC_000012.11:g.103234246G>A, NC_000012.11:g.103234246G>T, NG_008690.2:g.122943C>T, NG_008690.2:g.122943C>A, NM_000277.3:c.1247C>T, NM_000277.3:c.1247C>A, NM_000277.2:c.1247C>T, NM_000277.2:c.1247C>A, NM_000277.1:c.1247C>T, NM_000277.1:c.1247C>A, NM_001354304.2:c.1247C>T, NM_001354304.2:c.1247C>A, NM_001354304.1:c.1247C>T, NM_001354304.1:c.1247C>A, NP_000268.1:p.Pro416Leu, NP_000268.1:p.Pro416Gln, NP_001341233.1:p.Pro416Leu, NP_001341233.1:p.Pro416Gln

Select item 144174200912.

rs1441742009 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:102839188 (GRCh38)
12:103232966 (GRCh37)
Canonical SPDI:: NC_000012.12:102839187:T:C
Gene:: PAH (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.102839188T>C, NC_000012.11:g.103232966T>C, NG_008690.2:g.124223A>G, NM_000277.3:c.1346A>G, NM_000277.2:c.1346A>G, NM_000277.1:c.1346A>G, NM_001354304.2:c.1346A>G, NM_001354304.1:c.1346A>G, NP_000268.1:p.Gln449Arg, NP_001341233.1:p.Gln449Arg

Select item 144020670613.

rs1440206706 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:102839181 (GRCh38)
12:103232959 (GRCh37)
Canonical SPDI:: NC_000012.12:102839180:T:G
Gene:: PAH (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.102839181T>G, NC_000012.11:g.103232959T>G, NG_008690.2:g.124230A>C, NM_000277.3:c.1353A>C, NM_000277.2:c.1353A>C, NM_000277.1:c.1353A>C, NM_001354304.2:c.1353A>C, NM_001354304.1:c.1353A>C

Select item 143960362414.

rs1439603624 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:102840442 (GRCh38)
12:103234220 (GRCh37)
Canonical SPDI:: NC_000012.12:102840441:C:T
Gene:: PAH (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.102840442C>T, NC_000012.11:g.103234220C>T, NG_008690.2:g.122969G>A, NM_000277.3:c.1273G>A, NM_000277.2:c.1273G>A, NM_000277.1:c.1273G>A, NM_001354304.2:c.1273G>A, NM_001354304.1:c.1273G>A, NP_000268.1:p.Asp425Asn, NP_001341233.1:p.Asp425Asn

Select item 143835196115.

rs1438351961 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:102846934 (GRCh38)
12:103240712 (GRCh37)
Canonical SPDI:: NC_000012.12:102846933:A:G
Gene:: PAH (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.102846934A>G, NC_000012.11:g.103240712A>G, NG_008690.2:g.116477T>C, NM_000277.3:c.930T>C, NM_000277.2:c.930T>C, NM_000277.1:c.930T>C, NM_001354304.2:c.930T>C, NM_001354304.1:c.930T>C

Select item 143742100916.

rs1437421009 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:102894790 (GRCh38)
12:103288568 (GRCh37)
Canonical SPDI:: NC_000012.12:102894789:C:T
Gene:: PAH (Varview), LOC124902999 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.102894790C>T, NC_000012.11:g.103288568C>T, NG_008690.2:g.68621G>A, NM_000277.3:c.297G>A, NM_000277.2:c.297G>A, NM_000277.1:c.297G>A, NM_001354304.2:c.297G>A, NM_001354304.1:c.297G>A, XM_017019370.2:c.297G>A, XM_017019370.1:c.297G>A

Select item 143371272017.

rs1433712720 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:102917097 (GRCh38)
12:103310875 (GRCh37)
Canonical SPDI:: NC_000012.12:102917096:C:T
Gene:: PAH (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000085/3 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.102917097C>T, NC_000012.11:g.103310875C>T, NG_008690.2:g.46314G>A, NM_000277.3:c.34G>A, NM_000277.2:c.34G>A, NM_000277.1:c.34G>A, NM_001354304.2:c.34G>A, NM_001354304.1:c.34G>A, XM_017019370.2:c.34G>A, XM_017019370.1:c.34G>A, NP_000268.1:p.Gly12Ser, NP_001341233.1:p.Gly12Ser, XP_016874859.1:p.Gly12Ser

Select item 143200101018.

rs1432001010 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:102855301 (GRCh38)
12:103249079 (GRCh37)
Canonical SPDI:: NC_000012.12:102855300:C:T
Gene:: PAH (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.102855301C>T, NC_000012.11:g.103249079C>T, NG_008690.2:g.108110G>A, NM_000277.3:c.541G>A, NM_000277.2:c.541G>A, NM_000277.1:c.541G>A, NM_001354304.2:c.541G>A, NM_001354304.1:c.541G>A, XM_017019370.2:c.541G>A, XM_017019370.1:c.541G>A, NP_000268.1:p.Glu181Lys, NP_001341233.1:p.Glu181Lys, XP_016874859.1:p.Glu181Lys

Select item 142905574019.

rs1429055740 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 12:102843677 (GRCh38)
12:103237455 (GRCh37)
Canonical SPDI:: NC_000012.12:102843672:CTCTCT:CTCT
Gene:: PAH (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,genic_downstream_transcript_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.102843673CT[2], NC_000012.11:g.103237451CT[2], NG_008690.2:g.119733AG[2], NM_000277.3:c.1171_1172del, NM_000277.2:c.1171_1172del, NM_000277.1:c.1171_1172del, NM_001354304.2:c.1171_1172del, NM_001354304.1:c.1171_1172del, NP_000268.1:p.Ser391fs, NP_001341233.1:p.Ser391fs

Select item 142089717520.

rs1420897175 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:102855144 (GRCh38)
12:103248922 (GRCh37)
Canonical SPDI:: NC_000012.12:102855143:A:G
Gene:: PAH (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.102855144A>G, NC_000012.11:g.103248922A>G, NG_008690.2:g.108267T>C, NM_000277.3:c.698T>C, NM_000277.2:c.698T>C, NM_000277.1:c.698T>C, NM_001354304.2:c.698T>C, NM_001354304.1:c.698T>C, XM_017019370.2:c.698T>C, XM_017019370.1:c.698T>C, NP_000268.1:p.Phe233Ser, NP_001341233.1:p.Phe233Ser, XP_016874859.1:p.Phe233Ser

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