SNP Links for Protein (Select 1019367163) - SNP

Links from Protein

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Select item 14873753371.

rs1487375337 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:13278310 (GRCh38)
10:13320310 (GRCh37)
Canonical SPDI:: NC_000010.11:13278309:G:A
Gene:: PHYH (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.13278310G>A, NC_000010.10:g.13320310G>A, NG_012862.1:g.26821C>T, NM_006214.4:c.1008C>T, NM_006214.3:c.1008C>T, NM_001323080.2:c.708C>T, NM_001323080.1:c.708C>T, NM_001323084.2:c.714C>T, NM_001323084.1:c.714C>T, NM_001037537.2:c.708C>T, NM_001037537.1:c.708C>T, NM_001323082.2:c.1014C>T, NM_001323082.1:c.1014C>T, NM_001323083.2:c.744C>T, NM_001323083.1:c.744C>T

Select item 14802531982.

rs1480253198 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:13295523 (GRCh38)
10:13337523 (GRCh37)
Canonical SPDI:: NC_000010.11:13295522:A:G
Gene:: PHYH (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.13295523A>G, NC_000010.10:g.13337523A>G, NG_012862.1:g.9608T>C, NM_006214.4:c.218T>C, NM_006214.3:c.218T>C, NM_001323080.2:c.-83T>C, NM_001323080.1:c.-83T>C, NM_001323084.2:c.-83T>C, NM_001323084.1:c.-83T>C, NM_001037537.2:c.-83T>C, NM_001037537.1:c.-83T>C, NM_001323082.2:c.218T>C, NM_001323082.1:c.218T>C, NM_001323083.2:c.218T>C, NM_001323083.1:c.218T>C, NP_006205.1:p.Val73Ala, NP_001310011.1:p.Val73Ala, NP_001310012.1:p.Val73Ala

Select item 14789520423.

rs1478952042 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:13288537 (GRCh38)
10:13330537 (GRCh37)
Canonical SPDI:: NC_000010.11:13288536:C:T
Gene:: PHYH (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.13288537C>T, NC_000010.10:g.13330537C>T, NG_012862.1:g.16594G>A, NM_006214.4:c.501G>A, NM_006214.3:c.501G>A, NM_001323080.2:c.201G>A, NM_001323080.1:c.201G>A, NM_001323084.2:c.207G>A, NM_001323084.1:c.207G>A, NM_001037537.2:c.201G>A, NM_001037537.1:c.201G>A, NM_001323082.2:c.507G>A, NM_001323082.1:c.507G>A

Select item 14748379154.

rs1474837915 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:13281033 (GRCh38)
10:13323033 (GRCh37)
Canonical SPDI:: NC_000010.11:13281032:C:T
Gene:: PHYH (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
T=0.000042/11 (TOPMED)
HGVS:: NC_000010.11:g.13281033C>T, NC_000010.10:g.13323033C>T, NG_012862.1:g.24098G>A, NM_006214.4:c.906G>A, NM_006214.3:c.906G>A, NM_001323080.2:c.606G>A, NM_001323080.1:c.606G>A, NM_001323084.2:c.612G>A, NM_001323084.1:c.612G>A, NM_001037537.2:c.606G>A, NM_001037537.1:c.606G>A, NM_001323082.2:c.912G>A, NM_001323082.1:c.912G>A, NM_001323083.2:c.642G>A, NM_001323083.1:c.642G>A

Select item 14724192865.

rs1472419286 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:13281110 (GRCh38)
10:13323110 (GRCh37)
Canonical SPDI:: NC_000010.11:13281109:C:T
Gene:: PHYH (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000010.11:g.13281110C>T, NC_000010.10:g.13323110C>T, NG_012862.1:g.24021G>A, NM_006214.4:c.829G>A, NM_006214.3:c.829G>A, NM_001323080.2:c.529G>A, NM_001323080.1:c.529G>A, NM_001323084.2:c.535G>A, NM_001323084.1:c.535G>A, NM_001037537.2:c.529G>A, NM_001037537.1:c.529G>A, NM_001323082.2:c.835G>A, NM_001323082.1:c.835G>A, NM_001323083.2:c.565G>A, NM_001323083.1:c.565G>A, NP_006205.1:p.Ala277Thr, NP_001310009.1:p.Ala177Thr, NP_001310013.1:p.Ala179Thr, NP_001032626.1:p.Ala177Thr, NP_001310011.1:p.Ala279Thr, NP_001310012.1:p.Ala189Thr

Select item 14705215076.

rs1470521507 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:13281025 (GRCh38)
10:13323025 (GRCh37)
Canonical SPDI:: NC_000010.11:13281024:A:G
Gene:: PHYH (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000010.11:g.13281025A>G, NC_000010.10:g.13323025A>G, NG_012862.1:g.24106T>C, NM_006214.4:c.914T>C, NM_006214.3:c.914T>C, NM_001323080.2:c.614T>C, NM_001323080.1:c.614T>C, NM_001323084.2:c.620T>C, NM_001323084.1:c.620T>C, NM_001037537.2:c.614T>C, NM_001037537.1:c.614T>C, NM_001323082.2:c.920T>C, NM_001323082.1:c.920T>C, NM_001323083.2:c.650T>C, NM_001323083.1:c.650T>C, NP_006205.1:p.Val305Ala, NP_001310009.1:p.Val205Ala, NP_001310013.1:p.Val207Ala, NP_001032626.1:p.Val205Ala, NP_001310011.1:p.Val307Ala, NP_001310012.1:p.Val217Ala

Select item 14683676227.

rs1468367622 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 10:13281041 (GRCh38)
10:13323041 (GRCh37)
Canonical SPDI:: NC_000010.11:13281040:T:A,NC_000010.11:13281040:T:C,NC_000010.11:13281040:T:G
Gene:: PHYH (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000023/6 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000010.11:g.13281041T>A, NC_000010.11:g.13281041T>C, NC_000010.11:g.13281041T>G, NC_000010.10:g.13323041T>A, NC_000010.10:g.13323041T>C, NC_000010.10:g.13323041T>G, NG_012862.1:g.24090A>T, NG_012862.1:g.24090A>G, NG_012862.1:g.24090A>C, NM_006214.4:c.898A>T, NM_006214.4:c.898A>G, NM_006214.4:c.898A>C, NM_006214.3:c.898A>T, NM_006214.3:c.898A>G, NM_006214.3:c.898A>C, NM_001323080.2:c.598A>T, NM_001323080.2:c.598A>G, NM_001323080.2:c.598A>C, NM_001323080.1:c.598A>T, NM_001323080.1:c.598A>G, NM_001323080.1:c.598A>C, NM_001323084.2:c.604A>T, NM_001323084.2:c.604A>G, NM_001323084.2:c.604A>C, NM_001323084.1:c.604A>T, NM_001323084.1:c.604A>G, NM_001323084.1:c.604A>C, NM_001037537.2:c.598A>T, NM_001037537.2:c.598A>G, NM_001037537.2:c.598A>C, NM_001037537.1:c.598A>T, NM_001037537.1:c.598A>G, NM_001037537.1:c.598A>C, NM_001323082.2:c.904A>T, NM_001323082.2:c.904A>G, NM_001323082.2:c.904A>C, NM_001323082.1:c.904A>T, NM_001323082.1:c.904A>G, NM_001323082.1:c.904A>C, NM_001323083.2:c.634A>T, NM_001323083.2:c.634A>G, NM_001323083.2:c.634A>C, NM_001323083.1:c.634A>T, NM_001323083.1:c.634A>G, NM_001323083.1:c.634A>C, NP_006205.1:p.Ile300Phe, NP_006205.1:p.Ile300Val, NP_006205.1:p.Ile300Leu, NP_001310009.1:p.Ile200Phe, NP_001310009.1:p.Ile200Val, NP_001310009.1:p.Ile200Leu, NP_001310013.1:p.Ile202Phe, NP_001310013.1:p.Ile202Val, NP_001310013.1:p.Ile202Leu, NP_001032626.1:p.Ile200Phe, NP_001032626.1:p.Ile200Val, NP_001032626.1:p.Ile200Leu, NP_001310011.1:p.Ile302Phe, NP_001310011.1:p.Ile302Val, NP_001310011.1:p.Ile302Leu, NP_001310012.1:p.Ile212Phe, NP_001310012.1:p.Ile212Val, NP_001310012.1:p.Ile212Leu

Select item 14623845598.

rs1462384559 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:13283690 (GRCh38)
10:13325690 (GRCh37)
Canonical SPDI:: NC_000010.11:13283689:C:A
Gene:: PHYH (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_000010.11:g.13283690C>A, NC_000010.10:g.13325690C>A, NG_012862.1:g.21441G>T, NM_006214.4:c.828G>T, NM_006214.3:c.828G>T, NM_001323080.2:c.528G>T, NM_001323080.1:c.528G>T, NM_001323084.2:c.534G>T, NM_001323084.1:c.534G>T, NM_001037537.2:c.528G>T, NM_001037537.1:c.528G>T, NM_001323082.2:c.834G>T, NM_001323082.1:c.834G>T, NM_001323083.2:c.564G>T, NM_001323083.1:c.564G>T, NP_006205.1:p.Lys276Asn, NP_001310009.1:p.Lys176Asn, NP_001310013.1:p.Lys178Asn, NP_001032626.1:p.Lys176Asn, NP_001310011.1:p.Lys278Asn, NP_001310012.1:p.Lys188Asn

Select item 14600922739.

rs1460092273 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:13294526 (GRCh38)
10:13336526 (GRCh37)
Canonical SPDI:: NC_000010.11:13294525:T:G
Gene:: PHYH (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.13294526T>G, NC_000010.10:g.13336526T>G, NG_012862.1:g.10605A>C, NM_006214.4:c.316A>C, NM_006214.3:c.316A>C, NM_001323080.2:c.16A>C, NM_001323080.1:c.16A>C, NM_001323084.2:c.16A>C, NM_001323084.1:c.16A>C, NM_001037537.2:c.16A>C, NM_001037537.1:c.16A>C, NM_001323082.2:c.316A>C, NM_001323082.1:c.316A>C, NM_001323083.2:c.316A>C, NM_001323083.1:c.316A>C, NP_006205.1:p.Ile106Leu, NP_001310009.1:p.Ile6Leu, NP_001310013.1:p.Ile6Leu, NP_001032626.1:p.Ile6Leu, NP_001310011.1:p.Ile106Leu, NP_001310012.1:p.Ile106Leu

Select item 145443815010.

rs1454438150 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:13298194 (GRCh38)
10:13340194 (GRCh37)
Canonical SPDI:: NC_000010.11:13298193:G:A
Gene:: PHYH (Varview), LOC124902377 (Varview)
Functional Consequence:: stop_gained,intron_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.13298194G>A, NC_000010.10:g.13340194G>A, NG_012862.1:g.6937C>T, NM_006214.4:c.127C>T, NM_006214.3:c.127C>T, NM_001323080.2:c.-174C>T, NM_001323080.1:c.-174C>T, NM_001323082.2:c.127C>T, NM_001323082.1:c.127C>T, NM_001323083.2:c.127C>T, NM_001323083.1:c.127C>T, NP_006205.1:p.Gln43Ter, NP_001310011.1:p.Gln43Ter, NP_001310012.1:p.Gln43Ter

Select item 145437197511.

rs1454371975 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:13283691 (GRCh38)
10:13325691 (GRCh37)
Canonical SPDI:: NC_000010.11:13283690:T:G
Gene:: PHYH (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.13283691T>G, NC_000010.10:g.13325691T>G, NG_012862.1:g.21440A>C, NM_006214.4:c.827A>C, NM_006214.3:c.827A>C, NM_001323080.2:c.527A>C, NM_001323080.1:c.527A>C, NM_001323084.2:c.533A>C, NM_001323084.1:c.533A>C, NM_001037537.2:c.527A>C, NM_001037537.1:c.527A>C, NM_001323082.2:c.833A>C, NM_001323082.1:c.833A>C, NM_001323083.2:c.563A>C, NM_001323083.1:c.563A>C, NP_006205.1:p.Lys276Thr, NP_001310009.1:p.Lys176Thr, NP_001310013.1:p.Lys178Thr, NP_001032626.1:p.Lys176Thr, NP_001310011.1:p.Lys278Thr, NP_001310012.1:p.Lys188Thr

Select item 145299713112.

rs1452997131 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:13300035 (GRCh38)
10:13342035 (GRCh37)
Canonical SPDI:: NC_000010.11:13300034:T:C
Gene:: PHYH (Varview), LOC124902377 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000016/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.13300035T>C, NC_000010.10:g.13342035T>C, NG_012862.1:g.5096A>G, NM_006214.4:c.8A>G, NM_006214.3:c.8A>G, NM_001323082.2:c.8A>G, NM_001323082.1:c.8A>G, NM_001323083.2:c.8A>G, NM_001323083.1:c.8A>G, NP_006205.1:p.Gln3Arg, NP_001310011.1:p.Gln3Arg, NP_001310012.1:p.Gln3Arg

Select item 145288936613.

rs1452889366 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 10:13294451 (GRCh38)
10:13336451 (GRCh37)
Canonical SPDI:: NC_000010.11:13294450:A:C,NC_000010.11:13294450:A:G
Gene:: PHYH (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000143/20 (GnomAD)
HGVS:: NC_000010.11:g.13294451A>C, NC_000010.11:g.13294451A>G, NC_000010.10:g.13336451A>C, NC_000010.10:g.13336451A>G, NG_012862.1:g.10680T>G, NG_012862.1:g.10680T>C, NM_006214.4:c.391T>G, NM_006214.4:c.391T>C, NM_006214.3:c.391T>G, NM_006214.3:c.391T>C, NM_001323080.2:c.91T>G, NM_001323080.2:c.91T>C, NM_001323080.1:c.91T>G, NM_001323080.1:c.91T>C, NM_001323084.2:c.91T>G, NM_001323084.2:c.91T>C, NM_001323084.1:c.91T>G, NM_001323084.1:c.91T>C, NM_001037537.2:c.91T>G, NM_001037537.2:c.91T>C, NM_001037537.1:c.91T>G, NM_001037537.1:c.91T>C, NM_001323082.2:c.391T>G, NM_001323082.2:c.391T>C, NM_001323082.1:c.391T>G, NM_001323082.1:c.391T>C, NM_001323083.2:c.391T>G, NM_001323083.2:c.391T>C, NM_001323083.1:c.391T>G, NM_001323083.1:c.391T>C, NP_006205.1:p.Phe131Val, NP_006205.1:p.Phe131Leu, NP_001310009.1:p.Phe31Val, NP_001310009.1:p.Phe31Leu, NP_001310013.1:p.Phe31Val, NP_001310013.1:p.Phe31Leu, NP_001032626.1:p.Phe31Val, NP_001032626.1:p.Phe31Leu, NP_001310011.1:p.Phe131Val, NP_001310011.1:p.Phe131Leu, NP_001310012.1:p.Phe131Val, NP_001310012.1:p.Phe131Leu

Select item 145027376914.

rs1450273769 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:13291888 (GRCh38)
10:13333888 (GRCh37)
Canonical SPDI:: NC_000010.11:13291887:T:C
Gene:: PHYH (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.13291888T>C, NC_000010.10:g.13333888T>C, NG_012862.1:g.13243A>G, NM_006214.4:c.439A>G, NM_006214.3:c.439A>G, NM_001323080.2:c.139A>G, NM_001323080.1:c.139A>G, NM_001323084.2:c.139A>G, NM_001323084.1:c.139A>G, NM_001037537.2:c.139A>G, NM_001037537.1:c.139A>G, NM_001323082.2:c.439A>G, NM_001323082.1:c.439A>G, NP_006205.1:p.Thr147Ala, NP_001310009.1:p.Thr47Ala, NP_001310013.1:p.Thr47Ala, NP_001032626.1:p.Thr47Ala, NP_001310011.1:p.Thr147Ala

Select item 144941393815.

rs1449413938 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:13283719 (GRCh38)
10:13325719 (GRCh37)
Canonical SPDI:: NC_000010.11:13283718:C:G
Gene:: PHYH (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.13283719C>G, NC_000010.10:g.13325719C>G, NG_012862.1:g.21412G>C, NM_006214.4:c.799G>C, NM_006214.3:c.799G>C, NM_001323080.2:c.499G>C, NM_001323080.1:c.499G>C, NM_001323084.2:c.505G>C, NM_001323084.1:c.505G>C, NM_001037537.2:c.499G>C, NM_001037537.1:c.499G>C, NM_001323082.2:c.805G>C, NM_001323082.1:c.805G>C, NM_001323083.2:c.535G>C, NM_001323083.1:c.535G>C, NP_006205.1:p.Gly267Arg, NP_001310009.1:p.Gly167Arg, NP_001310013.1:p.Gly169Arg, NP_001032626.1:p.Gly167Arg, NP_001310011.1:p.Gly269Arg, NP_001310012.1:p.Gly179Arg

Select item 144877883016.

rs1448778830 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:13288460 (GRCh38)
10:13330460 (GRCh37)
Canonical SPDI:: NC_000010.11:13288459:C:T
Gene:: PHYH (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,intron_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_000010.11:g.13288460C>T, NC_000010.10:g.13330460C>T, NG_012862.1:g.16671G>A, NM_006214.4:c.578G>A, NM_006214.3:c.578G>A, NM_001323080.2:c.278G>A, NM_001323080.1:c.278G>A, NM_001323084.2:c.284G>A, NM_001323084.1:c.284G>A, NM_001037537.2:c.278G>A, NM_001037537.1:c.278G>A, NM_001323082.2:c.584G>A, NM_001323082.1:c.584G>A, NP_006205.1:p.Trp193Ter, NP_001310009.1:p.Trp93Ter, NP_001310013.1:p.Trp95Ter, NP_001032626.1:p.Trp93Ter, NP_001310011.1:p.Trp195Ter

Select item 144860981517.

rs1448609815 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:13295504 (GRCh38)
10:13337504 (GRCh37)
Canonical SPDI:: NC_000010.11:13295503:T:C
Gene:: PHYH (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
Clinical significance:: uncertain-significance
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.13295504T>C, NC_000010.10:g.13337504T>C, NG_012862.1:g.9627A>G, NM_006214.4:c.237A>G, NM_006214.3:c.237A>G, NM_001323080.2:c.-64A>G, NM_001323080.1:c.-64A>G, NM_001323084.2:c.-64A>G, NM_001323084.1:c.-64A>G, NM_001037537.2:c.-64A>G, NM_001037537.1:c.-64A>G, NM_001323082.2:c.237A>G, NM_001323082.1:c.237A>G, NM_001323083.2:c.237A>G, NM_001323083.1:c.237A>G

Select item 144012206018.

rs1440122060 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:13291860 (GRCh38)
10:13333860 (GRCh37)
Canonical SPDI:: NC_000010.11:13291859:G:A
Gene:: PHYH (Varview)
Functional Consequence:: intron_variant,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)
A=0.000142/2 (TOMMO)
HGVS:: NC_000010.11:g.13291860G>A, NC_000010.10:g.13333860G>A, NG_012862.1:g.13271C>T, NM_006214.4:c.467C>T, NM_006214.3:c.467C>T, NM_001323080.2:c.167C>T, NM_001323080.1:c.167C>T, NM_001323084.2:c.167C>T, NM_001323084.1:c.167C>T, NM_001037537.2:c.167C>T, NM_001037537.1:c.167C>T, NM_001323082.2:c.467C>T, NM_001323082.1:c.467C>T, NP_006205.1:p.Thr156Ile, NP_001310009.1:p.Thr56Ile, NP_001310013.1:p.Thr56Ile, NP_001032626.1:p.Thr56Ile, NP_001310011.1:p.Thr156Ile

Select item 143807967019.

rs1438079670 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:13300014 (GRCh38)
10:13342014 (GRCh37)
Canonical SPDI:: NC_000010.11:13300013:A:T
Gene:: PHYH (Varview), LOC124902377 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000010.11:g.13300014A>T, NC_000010.10:g.13342014A>T, NG_012862.1:g.5117T>A, NM_006214.4:c.29T>A, NM_006214.3:c.29T>A, NM_001323082.2:c.29T>A, NM_001323082.1:c.29T>A, NM_001323083.2:c.29T>A, NM_001323083.1:c.29T>A, NP_006205.1:p.Leu10Gln, NP_001310011.1:p.Leu10Gln, NP_001310012.1:p.Leu10Gln

Select item 143718961620.

rs1437189616 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:13281012 (GRCh38)
10:13323012 (GRCh37)
Canonical SPDI:: NC_000010.11:13281011:A:G
Gene:: PHYH (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.13281012A>G, NC_000010.10:g.13323012A>G, NG_012862.1:g.24119T>C, NM_006214.4:c.927T>C, NM_006214.3:c.927T>C, NM_001323080.2:c.627T>C, NM_001323080.1:c.627T>C, NM_001323084.2:c.633T>C, NM_001323084.1:c.633T>C, NM_001037537.2:c.627T>C, NM_001037537.1:c.627T>C, NM_001323082.2:c.933T>C, NM_001323082.1:c.933T>C, NM_001323083.2:c.663T>C, NM_001323083.1:c.663T>C

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