SNP Links for Protein (Select 767968278) - SNP

Select item 14904369551.

rs1490436955 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:57349787 (GRCh38)
11:57117261 (GRCh37)
Canonical SPDI:: NC_000011.10:57349786:G:A
Gene:: P2RX3 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.57349787G>A, NC_000011.9:g.57117261G>A, NM_002559.5:c.594G>A, NM_002559.4:c.594G>A, NM_002559.3:c.594G>A, XM_011545069.3:c.594G>A, XM_011545069.2:c.594G>A, XM_011545069.1:c.594G>A, XM_011545072.3:c.372G>A, XM_011545072.2:c.372G>A, XM_011545072.1:c.372G>A, XM_011545071.3:c.588G>A, XM_011545071.2:c.588G>A, XM_011545071.1:c.588G>A, XM_011545070.3:c.594G>A, XM_011545070.2:c.594G>A, XM_011545070.1:c.594G>A, XR_949950.3:n.793G>A, XR_949950.2:n.1317G>A, XR_949950.1:n.1321G>A, XM_011545073.2:c.102G>A, XM_011545073.1:c.102G>A

Select item 14887815842.

rs1488781584 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:57346622 (GRCh38)
11:57114096 (GRCh37)
Canonical SPDI:: NC_000011.10:57346621:C:G,NC_000011.10:57346621:C:T
Gene:: P2RX3 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.57346622C>G, NC_000011.10:g.57346622C>T, NC_000011.9:g.57114096C>G, NC_000011.9:g.57114096C>T, NM_002559.5:c.198C>G, NM_002559.5:c.198C>T, NM_002559.4:c.198C>G, NM_002559.4:c.198C>T, NM_002559.3:c.198C>G, NM_002559.3:c.198C>T, XM_011545069.3:c.198C>G, XM_011545069.3:c.198C>T, XM_011545069.2:c.198C>G, XM_011545069.2:c.198C>T, XM_011545069.1:c.198C>G, XM_011545069.1:c.198C>T, XM_011545072.3:c.-25C>G, XM_011545072.3:c.-25C>T, XM_011545072.2:c.-25C>G, XM_011545072.2:c.-25C>T, XM_011545072.1:c.-25C>G, XM_011545072.1:c.-25C>T, XM_011545071.3:c.198C>G, XM_011545071.3:c.198C>T, XM_011545071.2:c.198C>G, XM_011545071.2:c.198C>T, XM_011545071.1:c.198C>G, XM_011545071.1:c.198C>T, XM_011545070.3:c.198C>G, XM_011545070.3:c.198C>T, XM_011545070.2:c.198C>G, XM_011545070.2:c.198C>T, XM_011545070.1:c.198C>G, XM_011545070.1:c.198C>T, XR_949950.3:n.397C>G, XR_949950.3:n.397C>T, XR_949950.2:n.921C>G, XR_949950.2:n.921C>T, XR_949950.1:n.925C>G, XR_949950.1:n.925C>T

Select item 14871482243.

rs1487148224 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 11:57338560 (GRCh38)
11:57106034 (GRCh37)
Canonical SPDI:: NC_000011.10:57338559:A:C,NC_000011.10:57338559:A:G
Gene:: P2RX3 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
C=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.57338560A>C, NC_000011.10:g.57338560A>G, NC_000011.9:g.57106034A>C, NC_000011.9:g.57106034A>G, NM_002559.5:c.10A>C, NM_002559.5:c.10A>G, NM_002559.4:c.10A>C, NM_002559.4:c.10A>G, NM_002559.3:c.10A>C, NM_002559.3:c.10A>G, XM_011545069.3:c.10A>C, XM_011545069.3:c.10A>G, XM_011545069.2:c.10A>C, XM_011545069.2:c.10A>G, XM_011545069.1:c.10A>C, XM_011545069.1:c.10A>G, XM_011545072.3:c.-472A>C, XM_011545072.3:c.-472A>G, XM_011545072.2:c.-472A>C, XM_011545072.2:c.-472A>G, XM_011545072.1:c.-472A>C, XM_011545072.1:c.-472A>G, XM_011545071.3:c.10A>C, XM_011545071.3:c.10A>G, XM_011545071.2:c.10A>C, XM_011545071.2:c.10A>G, XM_011545071.1:c.10A>C, XM_011545071.1:c.10A>G, XM_011545070.3:c.10A>C, XM_011545070.3:c.10A>G, XM_011545070.2:c.10A>C, XM_011545070.2:c.10A>G, XM_011545070.1:c.10A>C, XM_011545070.1:c.10A>G, XR_949950.3:n.209A>C, XR_949950.3:n.209A>G, XR_949950.2:n.733A>C, XR_949950.2:n.733A>G, XR_949950.1:n.737A>C, XR_949950.1:n.737A>G, NP_002550.2:p.Ile4Leu, NP_002550.2:p.Ile4Val, XP_011543371.1:p.Ile4Leu, XP_011543371.1:p.Ile4Val, XP_011543373.1:p.Ile4Leu, XP_011543373.1:p.Ile4Val, XP_011543372.1:p.Ile4Leu, XP_011543372.1:p.Ile4Val

Select item 14818488894.

rs1481848889 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:57350787 (GRCh38)
11:57118261 (GRCh37)
Canonical SPDI:: NC_000011.10:57350786:G:C
Gene:: P2RX3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.57350787G>C, NC_000011.9:g.57118261G>C, NM_002559.5:c.731G>C, NM_002559.4:c.731G>C, NM_002559.3:c.731G>C, XM_011545069.3:c.731G>C, XM_011545069.2:c.731G>C, XM_011545069.1:c.731G>C, XM_011545072.3:c.509G>C, XM_011545072.2:c.509G>C, XM_011545072.1:c.509G>C, XM_011545071.3:c.725G>C, XM_011545071.2:c.725G>C, XM_011545071.1:c.725G>C, XM_011545070.3:c.731G>C, XM_011545070.2:c.731G>C, XM_011545070.1:c.731G>C, XR_949950.3:n.930G>C, XR_949950.2:n.1454G>C, XR_949950.1:n.1458G>C, XM_011545073.2:c.239G>C, XM_011545073.1:c.239G>C, NP_002550.2:p.Gly244Ala, XP_011543371.1:p.Gly244Ala, XP_011543374.1:p.Gly170Ala, XP_011543373.1:p.Gly242Ala, XP_011543372.1:p.Gly244Ala, XP_011543375.1:p.Gly80Ala

Select item 14795217395.

rs1479521739 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:57349802 (GRCh38)
11:57117276 (GRCh37)
Canonical SPDI:: NC_000011.10:57349801:C:T
Gene:: P2RX3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000011.10:g.57349802C>T, NC_000011.9:g.57117276C>T, NM_002559.5:c.609C>T, NM_002559.4:c.609C>T, NM_002559.3:c.609C>T, XM_011545069.3:c.609C>T, XM_011545069.2:c.609C>T, XM_011545069.1:c.609C>T, XM_011545072.3:c.387C>T, XM_011545072.2:c.387C>T, XM_011545072.1:c.387C>T, XM_011545071.3:c.603C>T, XM_011545071.2:c.603C>T, XM_011545071.1:c.603C>T, XM_011545070.3:c.609C>T, XM_011545070.2:c.609C>T, XM_011545070.1:c.609C>T, XR_949950.3:n.808C>T, XR_949950.2:n.1332C>T, XR_949950.1:n.1336C>T, XM_011545073.2:c.117C>T, XM_011545073.1:c.117C>T

Select item 14774055726.

rs1477405572 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:57369968 (GRCh38)
11:57137441 (GRCh37)
Canonical SPDI:: NC_000011.10:57369967:G:A
Gene:: P2RX3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.57369968G>A, NC_000011.9:g.57137441G>A, NM_002559.5:c.1165G>A, NM_002559.4:c.1165G>A, NM_002559.3:c.1165G>A, XM_011545069.3:c.1165G>A, XM_011545069.2:c.1165G>A, XM_011545069.1:c.1165G>A, XM_011545072.3:c.943G>A, XM_011545072.2:c.943G>A, XM_011545072.1:c.943G>A, XM_011545071.3:c.1159G>A, XM_011545071.2:c.1159G>A, XM_011545071.1:c.1159G>A, XM_011545070.3:c.1165G>A, XM_011545070.2:c.1165G>A, XM_011545070.1:c.1165G>A, XM_011545073.2:c.673G>A, XM_011545073.1:c.673G>A, NP_002550.2:p.Asp389Asn, XP_011543371.1:p.Asp389Asn, XP_011543374.1:p.Asp315Asn, XP_011543373.1:p.Asp387Asn, XP_011543372.1:p.Asp389Asn, XP_011543375.1:p.Asp225Asn

Select item 14688290707.

rs1468829070 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:57350812 (GRCh38)
11:57118286 (GRCh37)
Canonical SPDI:: NC_000011.10:57350811:C:T
Gene:: P2RX3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.57350812C>T, NC_000011.9:g.57118286C>T, NM_002559.5:c.756C>T, NM_002559.4:c.756C>T, NM_002559.3:c.756C>T, XM_011545069.3:c.756C>T, XM_011545069.2:c.756C>T, XM_011545069.1:c.756C>T, XM_011545072.3:c.534C>T, XM_011545072.2:c.534C>T, XM_011545072.1:c.534C>T, XM_011545071.3:c.750C>T, XM_011545071.2:c.750C>T, XM_011545071.1:c.750C>T, XM_011545070.3:c.756C>T, XM_011545070.2:c.756C>T, XM_011545070.1:c.756C>T, XR_949950.3:n.955C>T, XR_949950.2:n.1479C>T, XR_949950.1:n.1483C>T, XM_011545073.2:c.264C>T, XM_011545073.1:c.264C>T

Select item 14683336988.

rs1468333698 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:57347150 (GRCh38)
11:57114624 (GRCh37)
Canonical SPDI:: NC_000011.10:57347149:T:C
Gene:: P2RX3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant
HGVS:: NC_000011.10:g.57347150T>C, NC_000011.9:g.57114624T>C, NM_002559.5:c.290T>C, NM_002559.4:c.290T>C, NM_002559.3:c.290T>C, XM_011545069.3:c.290T>C, XM_011545069.2:c.290T>C, XM_011545069.1:c.290T>C, XM_011545072.3:c.68T>C, XM_011545072.2:c.68T>C, XM_011545072.1:c.68T>C, XM_011545071.3:c.290T>C, XM_011545071.2:c.290T>C, XM_011545071.1:c.290T>C, XM_011545070.3:c.290T>C, XM_011545070.2:c.290T>C, XM_011545070.1:c.290T>C, XR_949950.3:n.489T>C, XR_949950.2:n.1013T>C, XR_949950.1:n.1017T>C, XM_011545073.2:c.-139T>C, XM_011545073.1:c.-139T>C, NP_002550.2:p.Ile97Thr, XP_011543371.1:p.Ile97Thr, XP_011543374.1:p.Ile23Thr, XP_011543373.1:p.Ile97Thr, XP_011543372.1:p.Ile97Thr

Select item 14666834669.

rs1466683466 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:57348630 (GRCh38)
11:57116104 (GRCh37)
Canonical SPDI:: NC_000011.10:57348629:C:T
Gene:: P2RX3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.57348630C>T, NC_000011.9:g.57116104C>T, NM_002559.5:c.489C>T, NM_002559.4:c.489C>T, NM_002559.3:c.489C>T, XM_011545069.3:c.489C>T, XM_011545069.2:c.489C>T, XM_011545069.1:c.489C>T, XM_011545072.3:c.267C>T, XM_011545072.2:c.267C>T, XM_011545072.1:c.267C>T, XM_011545071.3:c.483C>T, XM_011545071.2:c.483C>T, XM_011545071.1:c.483C>T, XM_011545070.3:c.489C>T, XM_011545070.2:c.489C>T, XM_011545070.1:c.489C>T, XR_949950.3:n.688C>T, XR_949950.2:n.1212C>T, XR_949950.1:n.1216C>T, XM_011545073.2:c.-4C>T, XM_011545073.1:c.-4C>T

Select item 146177742810.

rs1461777428 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:57350776 (GRCh38)
11:57118250 (GRCh37)
Canonical SPDI:: NC_000011.10:57350775:C:A
Gene:: P2RX3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.57350776C>A, NC_000011.9:g.57118250C>A, NM_002559.5:c.720C>A, NM_002559.4:c.720C>A, NM_002559.3:c.720C>A, XM_011545069.3:c.720C>A, XM_011545069.2:c.720C>A, XM_011545069.1:c.720C>A, XM_011545072.3:c.498C>A, XM_011545072.2:c.498C>A, XM_011545072.1:c.498C>A, XM_011545071.3:c.714C>A, XM_011545071.2:c.714C>A, XM_011545071.1:c.714C>A, XM_011545070.3:c.720C>A, XM_011545070.2:c.720C>A, XM_011545070.1:c.720C>A, XR_949950.3:n.919C>A, XR_949950.2:n.1443C>A, XR_949950.1:n.1447C>A, XM_011545073.2:c.228C>A, XM_011545073.1:c.228C>A

Select item 146167562111.

rs1461675621 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:57349818 (GRCh38)
11:57117292 (GRCh37)
Canonical SPDI:: NC_000011.10:57349817:A:G
Gene:: P2RX3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000047/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.57349818A>G, NC_000011.9:g.57117292A>G, NM_002559.5:c.625A>G, NM_002559.4:c.625A>G, NM_002559.3:c.625A>G, XM_011545069.3:c.625A>G, XM_011545069.2:c.625A>G, XM_011545069.1:c.625A>G, XM_011545072.3:c.403A>G, XM_011545072.2:c.403A>G, XM_011545072.1:c.403A>G, XM_011545071.3:c.619A>G, XM_011545071.2:c.619A>G, XM_011545071.1:c.619A>G, XM_011545070.3:c.625A>G, XM_011545070.2:c.625A>G, XM_011545070.1:c.625A>G, XR_949950.3:n.824A>G, XR_949950.2:n.1348A>G, XR_949950.1:n.1352A>G, XM_011545073.2:c.133A>G, XM_011545073.1:c.133A>G, NP_002550.2:p.Lys209Glu, XP_011543371.1:p.Lys209Glu, XP_011543374.1:p.Lys135Glu, XP_011543373.1:p.Lys207Glu, XP_011543372.1:p.Lys209Glu, XP_011543375.1:p.Lys45Glu

Select item 146027654812.

rs1460276548 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 11:57348664 (GRCh38)
11:57116138 (GRCh37)
Canonical SPDI:: NC_000011.10:57348663:A:C,NC_000011.10:57348663:A:G,NC_000011.10:57348663:A:T
Gene:: P2RX3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000011.10:g.57348664A>C, NC_000011.10:g.57348664A>G, NC_000011.10:g.57348664A>T, NC_000011.9:g.57116138A>C, NC_000011.9:g.57116138A>G, NC_000011.9:g.57116138A>T, NM_002559.5:c.523A>C, NM_002559.5:c.523A>G, NM_002559.5:c.523A>T, NM_002559.4:c.523A>C, NM_002559.4:c.523A>G, NM_002559.4:c.523A>T, NM_002559.3:c.523A>C, NM_002559.3:c.523A>G, NM_002559.3:c.523A>T, XM_011545069.3:c.523A>C, XM_011545069.3:c.523A>G, XM_011545069.3:c.523A>T, XM_011545069.2:c.523A>C, XM_011545069.2:c.523A>G, XM_011545069.2:c.523A>T, XM_011545069.1:c.523A>C, XM_011545069.1:c.523A>G, XM_011545069.1:c.523A>T, XM_011545072.3:c.301A>C, XM_011545072.3:c.301A>G, XM_011545072.3:c.301A>T, XM_011545072.2:c.301A>C, XM_011545072.2:c.301A>G, XM_011545072.2:c.301A>T, XM_011545072.1:c.301A>C, XM_011545072.1:c.301A>G, XM_011545072.1:c.301A>T, XM_011545071.3:c.517A>C, XM_011545071.3:c.517A>G, XM_011545071.3:c.517A>T, XM_011545071.2:c.517A>C, XM_011545071.2:c.517A>G, XM_011545071.2:c.517A>T, XM_011545071.1:c.517A>C, XM_011545071.1:c.517A>G, XM_011545071.1:c.517A>T, XM_011545070.3:c.523A>C, XM_011545070.3:c.523A>G, XM_011545070.3:c.523A>T, XM_011545070.2:c.523A>C, XM_011545070.2:c.523A>G, XM_011545070.2:c.523A>T, XM_011545070.1:c.523A>C, XM_011545070.1:c.523A>G, XM_011545070.1:c.523A>T, XR_949950.3:n.722A>C, XR_949950.3:n.722A>G, XR_949950.3:n.722A>T, XR_949950.2:n.1246A>C, XR_949950.2:n.1246A>G, XR_949950.2:n.1246A>T, XR_949950.1:n.1250A>C, XR_949950.1:n.1250A>G, XR_949950.1:n.1250A>T, XM_011545073.2:c.31A>C, XM_011545073.2:c.31A>G, XM_011545073.2:c.31A>T, XM_011545073.1:c.31A>C, XM_011545073.1:c.31A>G, XM_011545073.1:c.31A>T, NP_002550.2:p.Ile175Leu, NP_002550.2:p.Ile175Val, NP_002550.2:p.Ile175Phe, XP_011543371.1:p.Ile175Leu, XP_011543371.1:p.Ile175Val, XP_011543371.1:p.Ile175Phe, XP_011543374.1:p.Ile101Leu, XP_011543374.1:p.Ile101Val, XP_011543374.1:p.Ile101Phe, XP_011543373.1:p.Ile173Leu, XP_011543373.1:p.Ile173Val, XP_011543373.1:p.Ile173Phe, XP_011543372.1:p.Ile175Leu, XP_011543372.1:p.Ile175Val, XP_011543372.1:p.Ile175Phe, XP_011543375.1:p.Ile11Leu, XP_011543375.1:p.Ile11Val, XP_011543375.1:p.Ile11Phe

Select item 145863484113.

rs1458634841 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAG>- [Show Flanks]
Chromosome:: 11:57347421 (GRCh38)
11:57114895 (GRCh37)
Canonical SPDI:: NC_000011.10:57347417:GAGGAG:GAG
Gene:: P2RX3 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,inframe_deletion,non_coding_transcript_variant
Validated:: by frequency
MAF:: -=0.000012/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.57347418GAG[1], NC_000011.9:g.57114892GAG[1], NM_002559.5:c.331GAG[1], NM_002559.4:c.331GAG[1], NM_002559.3:c.331GAG[1], XM_011545069.3:c.331GAG[1], XM_011545069.2:c.331GAG[1], XM_011545069.1:c.331GAG[1], XM_011545072.3:c.109GAG[1], XM_011545072.2:c.109GAG[1], XM_011545072.1:c.109GAG[1], XM_011545071.3:c.331GAG[1], XM_011545071.2:c.331GAG[1], XM_011545071.1:c.331GAG[1], XM_011545070.3:c.331GAG[1], XM_011545070.2:c.331GAG[1], XM_011545070.1:c.331GAG[1], XR_949950.3:n.530GAG[1], XR_949950.2:n.1054GAG[1], XR_949950.1:n.1058GAG[1], NP_002550.2:p.Glu112del, XP_011543371.1:p.Glu112del, XP_011543374.1:p.Glu38del, XP_011543373.1:p.Glu112del, XP_011543372.1:p.Glu112del

Select item 145644999614.

rs1456449996 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:57346572 (GRCh38)
11:57114046 (GRCh37)
Canonical SPDI:: NC_000011.10:57346571:C:T
Gene:: P2RX3 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,stop_gained,upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.57346572C>T, NC_000011.9:g.57114046C>T, NM_002559.5:c.148C>T, NM_002559.4:c.148C>T, NM_002559.3:c.148C>T, XM_011545069.3:c.148C>T, XM_011545069.2:c.148C>T, XM_011545069.1:c.148C>T, XM_011545072.3:c.-75C>T, XM_011545072.2:c.-75C>T, XM_011545072.1:c.-75C>T, XM_011545071.3:c.148C>T, XM_011545071.2:c.148C>T, XM_011545071.1:c.148C>T, XM_011545070.3:c.148C>T, XM_011545070.2:c.148C>T, XM_011545070.1:c.148C>T, XR_949950.3:n.347C>T, XR_949950.2:n.871C>T, XR_949950.1:n.875C>T, NP_002550.2:p.Gln50Ter, XP_011543371.1:p.Gln50Ter, XP_011543373.1:p.Gln50Ter, XP_011543372.1:p.Gln50Ter

Select item 145162252915.

rs1451622529 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:57347446 (GRCh38)
11:57114920 (GRCh37)
Canonical SPDI:: NC_000011.10:57347445:G:C
Gene:: P2RX3 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000011.10:g.57347446G>C, NC_000011.9:g.57114920G>C, NM_002559.5:c.359G>C, NM_002559.4:c.359G>C, NM_002559.3:c.359G>C, XM_011545069.3:c.359G>C, XM_011545069.2:c.359G>C, XM_011545069.1:c.359G>C, XM_011545072.3:c.137G>C, XM_011545072.2:c.137G>C, XM_011545072.1:c.137G>C, XM_011545071.3:c.359G>C, XM_011545071.2:c.359G>C, XM_011545071.1:c.359G>C, XM_011545070.3:c.359G>C, XM_011545070.2:c.359G>C, XM_011545070.1:c.359G>C, XR_949950.3:n.558G>C, XR_949950.2:n.1082G>C, XR_949950.1:n.1086G>C, NP_002550.2:p.Ser120Thr, XP_011543371.1:p.Ser120Thr, XP_011543374.1:p.Ser46Thr, XP_011543373.1:p.Ser120Thr, XP_011543372.1:p.Ser120Thr

Select item 144712150916.

rs1447121509 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:57368038 (GRCh38)
11:57135512 (GRCh37)
Canonical SPDI:: NC_000011.10:57368037:G:A
Gene:: P2RX3 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.57368038G>A, NC_000011.9:g.57135512G>A, NM_002559.5:c.872G>A, NM_002559.4:c.872G>A, NM_002559.3:c.872G>A, XM_011545069.3:c.872G>A, XM_011545069.2:c.872G>A, XM_011545069.1:c.872G>A, XM_011545072.3:c.650G>A, XM_011545072.2:c.650G>A, XM_011545072.1:c.650G>A, XM_011545071.3:c.866G>A, XM_011545071.2:c.866G>A, XM_011545071.1:c.866G>A, XM_011545070.3:c.872G>A, XM_011545070.2:c.872G>A, XM_011545070.1:c.872G>A, XR_949950.3:n.1071G>A, XR_949950.2:n.1595G>A, XR_949950.1:n.1599G>A, XM_011545073.2:c.380G>A, XM_011545073.1:c.380G>A, NP_002550.2:p.Gly291Asp, XP_011543371.1:p.Gly291Asp, XP_011543374.1:p.Gly217Asp, XP_011543373.1:p.Gly289Asp, XP_011543372.1:p.Gly291Asp, XP_011543375.1:p.Gly127Asp

Select item 144705928917.

rs1447059289 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:57368014 (GRCh38)
11:57135488 (GRCh37)
Canonical SPDI:: NC_000011.10:57368013:C:T
Gene:: P2RX3 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.57368014C>T, NC_000011.9:g.57135488C>T, NM_002559.5:c.848C>T, NM_002559.4:c.848C>T, NM_002559.3:c.848C>T, XM_011545069.3:c.848C>T, XM_011545069.2:c.848C>T, XM_011545069.1:c.848C>T, XM_011545072.3:c.626C>T, XM_011545072.2:c.626C>T, XM_011545072.1:c.626C>T, XM_011545071.3:c.842C>T, XM_011545071.2:c.842C>T, XM_011545071.1:c.842C>T, XM_011545070.3:c.848C>T, XM_011545070.2:c.848C>T, XM_011545070.1:c.848C>T, XR_949950.3:n.1047C>T, XR_949950.2:n.1571C>T, XR_949950.1:n.1575C>T, XM_011545073.2:c.356C>T, XM_011545073.1:c.356C>T, NP_002550.2:p.Ala283Val, XP_011543371.1:p.Ala283Val, XP_011543374.1:p.Ala209Val, XP_011543373.1:p.Ala281Val, XP_011543372.1:p.Ala283Val, XP_011543375.1:p.Ala119Val

Select item 144561211818.

rs1445612118 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 11:57369435 (GRCh38)
11:57136908 (GRCh37)
Canonical SPDI:: NC_000011.10:57369434:GG:G
Gene:: P2RX3 (Varview)
Functional Consequence:: frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.57369436del, NC_000011.9:g.57136909del, NM_002559.5:c.1078del, NM_002559.4:c.1078del, NM_002559.3:c.1078del, XM_011545069.3:c.1078del, XM_011545069.2:c.1078del, XM_011545069.1:c.1078del, XM_011545072.3:c.856del, XM_011545072.2:c.856del, XM_011545072.1:c.856del, XM_011545071.3:c.1072del, XM_011545071.2:c.1072del, XM_011545071.1:c.1072del, XM_011545070.3:c.1078del, XM_011545070.2:c.1078del, XM_011545070.1:c.1078del, XR_949950.3:n.1493del, XR_949950.2:n.2017del, XR_949950.1:n.2021del, XM_011545073.2:c.586del, XM_011545073.1:c.586del, NP_002550.2:p.Glu360fs, XP_011543371.1:p.Glu360fs, XP_011543374.1:p.Glu286fs, XP_011543373.1:p.Glu358fs, XP_011543372.1:p.Glu360fs, XP_011543375.1:p.Glu196fs

Select item 144253198419.

rs1442531984 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:57368054 (GRCh38)
11:57135528 (GRCh37)
Canonical SPDI:: NC_000011.10:57368053:C:T
Gene:: P2RX3 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.57368054C>T, NC_000011.9:g.57135528C>T, NM_002559.5:c.888C>T, NM_002559.4:c.888C>T, NM_002559.3:c.888C>T, XM_011545069.3:c.888C>T, XM_011545069.2:c.888C>T, XM_011545069.1:c.888C>T, XM_011545072.3:c.666C>T, XM_011545072.2:c.666C>T, XM_011545072.1:c.666C>T, XM_011545071.3:c.882C>T, XM_011545071.2:c.882C>T, XM_011545071.1:c.882C>T, XM_011545070.3:c.888C>T, XM_011545070.2:c.888C>T, XM_011545070.1:c.888C>T, XR_949950.3:n.1087C>T, XR_949950.2:n.1611C>T, XR_949950.1:n.1615C>T, XM_011545073.2:c.396C>T, XM_011545073.1:c.396C>T

Select item 144242886020.

rs1442428860 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:57348683 (GRCh38)
11:57116157 (GRCh37)
Canonical SPDI:: NC_000011.10:57348682:T:C
Gene:: P2RX3 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.57348683T>C, NC_000011.9:g.57116157T>C, NM_002559.5:c.542T>C, NM_002559.4:c.542T>C, NM_002559.3:c.542T>C, XM_011545069.3:c.542T>C, XM_011545069.2:c.542T>C, XM_011545069.1:c.542T>C, XM_011545072.3:c.320T>C, XM_011545072.2:c.320T>C, XM_011545072.1:c.320T>C, XM_011545071.3:c.536T>C, XM_011545071.2:c.536T>C, XM_011545071.1:c.536T>C, XM_011545070.3:c.542T>C, XM_011545070.2:c.542T>C, XM_011545070.1:c.542T>C, XR_949950.3:n.741T>C, XR_949950.2:n.1265T>C, XR_949950.1:n.1269T>C, XM_011545073.2:c.50T>C, XM_011545073.1:c.50T>C, NP_002550.2:p.Phe181Ser, XP_011543371.1:p.Phe181Ser, XP_011543374.1:p.Phe107Ser, XP_011543373.1:p.Phe179Ser, XP_011543372.1:p.Phe181Ser, XP_011543375.1:p.Phe17Ser

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Result Filters

Clinical Significance

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Items: 1 to 20 of 402

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