SNP Links for Protein (Select 511772970) - SNP

Links from Protein

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Select item 14892850161.

rs1489285016 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:24441098 (GRCh38)
22:24837066 (GRCh37)
Canonical SPDI:: NC_000022.11:24441097:T:C
Gene:: ADORA2A (Varview), ADORA2A-AS1 (Varview), SPECC1L-ADORA2A (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.24441098T>C, NC_000022.10:g.24837066T>C, NG_052804.1:g.22502T>C, NM_000675.6:c.848T>C, NM_000675.5:c.848T>C, NM_001278497.2:c.848T>C, NM_001278497.1:c.848T>C, NM_001278499.2:c.848T>C, NM_001278499.1:c.848T>C, NM_001278498.2:c.848T>C, NM_001278498.1:c.848T>C, NM_001278500.2:c.848T>C, NM_001278500.1:c.848T>C, NR_103543.2:n.664T>C, NR_103543.1:n.701T>C, NR_103544.2:n.644T>C, NR_103544.1:n.681T>C, NR_103546.1:n.5027T>C, NP_000666.2:p.Val283Ala, NP_001265426.1:p.Val283Ala, NP_001265428.1:p.Val283Ala, NP_001265427.1:p.Val283Ala, NP_001265429.1:p.Val283Ala

Select item 14890977732.

rs1489097773 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:24441384 (GRCh38)
22:24837352 (GRCh37)
Canonical SPDI:: NC_000022.11:24441383:G:A
Gene:: ADORA2A (Varview), ADORA2A-AS1 (Varview), SPECC1L-ADORA2A (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.24441384G>A, NC_000022.10:g.24837352G>A, NG_052804.1:g.22788G>A, NM_000675.6:c.1134G>A, NM_000675.5:c.1134G>A, NM_001278497.2:c.1134G>A, NM_001278497.1:c.1134G>A, NM_001278499.2:c.1134G>A, NM_001278499.1:c.1134G>A, NM_001278498.2:c.1134G>A, NM_001278498.1:c.1134G>A, NM_001278500.2:c.1134G>A, NM_001278500.1:c.1134G>A, NR_103543.2:n.950G>A, NR_103543.1:n.987G>A, NR_103544.2:n.930G>A, NR_103544.1:n.967G>A, NR_103546.1:n.5313G>A

Select item 14859539943.

rs1485953994 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 22:24433716 (GRCh38)
22:24829684 (GRCh37)
Canonical SPDI:: NC_000022.11:24433715:T:A,NC_000022.11:24433715:T:C,NC_000022.11:24433715:T:G
Gene:: ADORA2A (Varview), ADORA2A-AS1 (Varview), SPECC1L-ADORA2A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,missense_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
A=0.000142/2 (TOMMO)
HGVS:: NC_000022.11:g.24433716T>A, NC_000022.11:g.24433716T>C, NC_000022.11:g.24433716T>G, NC_000022.10:g.24829684T>A, NC_000022.10:g.24829684T>C, NC_000022.10:g.24829684T>G, NG_052804.1:g.15120T>A, NG_052804.1:g.15120T>C, NG_052804.1:g.15120T>G, NM_000675.6:c.312T>A, NM_000675.6:c.312T>C, NM_000675.6:c.312T>G, NM_000675.5:c.312T>A, NM_000675.5:c.312T>C, NM_000675.5:c.312T>G, NM_001278497.2:c.312T>A, NM_001278497.2:c.312T>C, NM_001278497.2:c.312T>G, NM_001278497.1:c.312T>A, NM_001278497.1:c.312T>C, NM_001278497.1:c.312T>G, NM_001278499.2:c.312T>A, NM_001278499.2:c.312T>C, NM_001278499.2:c.312T>G, NM_001278499.1:c.312T>A, NM_001278499.1:c.312T>C, NM_001278499.1:c.312T>G, NM_001278498.2:c.312T>A, NM_001278498.2:c.312T>C, NM_001278498.2:c.312T>G, NM_001278498.1:c.312T>A, NM_001278498.1:c.312T>C, NM_001278498.1:c.312T>G, NM_001278500.2:c.312T>A, NM_001278500.2:c.312T>C, NM_001278500.2:c.312T>G, NM_001278500.1:c.312T>A, NM_001278500.1:c.312T>C, NM_001278500.1:c.312T>G, NR_103546.1:n.4491T>A, NR_103546.1:n.4491T>C, NR_103546.1:n.4491T>G, NP_000666.2:p.Ile104Met, NP_001265426.1:p.Ile104Met, NP_001265428.1:p.Ile104Met, NP_001265427.1:p.Ile104Met, NP_001265429.1:p.Ile104Met

Select item 14848552934.

rs1484855293 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:24441273 (GRCh38)
22:24837241 (GRCh37)
Canonical SPDI:: NC_000022.11:24441272:C:T
Gene:: ADORA2A (Varview), ADORA2A-AS1 (Varview), SPECC1L-ADORA2A (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.24441273C>T, NC_000022.10:g.24837241C>T, NG_052804.1:g.22677C>T, NM_000675.6:c.1023C>T, NM_000675.5:c.1023C>T, NM_001278497.2:c.1023C>T, NM_001278497.1:c.1023C>T, NM_001278499.2:c.1023C>T, NM_001278499.1:c.1023C>T, NM_001278498.2:c.1023C>T, NM_001278498.1:c.1023C>T, NM_001278500.2:c.1023C>T, NM_001278500.1:c.1023C>T, NR_103543.2:n.839C>T, NR_103543.1:n.876C>T, NR_103544.2:n.819C>T, NR_103544.1:n.856C>T, NR_103546.1:n.5202C>T

Select item 14814124925.

rs1481412492 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:24441330 (GRCh38)
22:24837298 (GRCh37)
Canonical SPDI:: NC_000022.11:24441329:C:T
Gene:: ADORA2A (Varview), ADORA2A-AS1 (Varview), SPECC1L-ADORA2A (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.24441330C>T, NC_000022.10:g.24837298C>T, NG_052804.1:g.22734C>T, NM_000675.6:c.1080C>T, NM_000675.5:c.1080C>T, NM_001278497.2:c.1080C>T, NM_001278497.1:c.1080C>T, NM_001278499.2:c.1080C>T, NM_001278499.1:c.1080C>T, NM_001278498.2:c.1080C>T, NM_001278498.1:c.1080C>T, NM_001278500.2:c.1080C>T, NM_001278500.1:c.1080C>T, NR_103543.2:n.896C>T, NR_103543.1:n.933C>T, NR_103544.2:n.876C>T, NR_103544.1:n.913C>T, NR_103546.1:n.5259C>T

Select item 14797731766.

rs1479773176 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:24441470 (GRCh38)
22:24837438 (GRCh37)
Canonical SPDI:: NC_000022.11:24441469:A:G
Gene:: ADORA2A (Varview), ADORA2A-AS1 (Varview), SPECC1L-ADORA2A (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.24441470A>G, NC_000022.10:g.24837438A>G, NG_052804.1:g.22874A>G, NM_000675.6:c.1220A>G, NM_000675.5:c.1220A>G, NM_001278497.2:c.1220A>G, NM_001278497.1:c.1220A>G, NM_001278499.2:c.1220A>G, NM_001278499.1:c.1220A>G, NM_001278498.2:c.1220A>G, NM_001278498.1:c.1220A>G, NM_001278500.2:c.1220A>G, NM_001278500.1:c.1220A>G, NR_103543.2:n.1036A>G, NR_103543.1:n.1073A>G, NR_103544.2:n.1016A>G, NR_103544.1:n.1053A>G, NR_103546.1:n.5399A>G, NP_000666.2:p.Asp407Gly, NP_001265426.1:p.Asp407Gly, NP_001265428.1:p.Asp407Gly, NP_001265427.1:p.Asp407Gly, NP_001265429.1:p.Asp407Gly

Select item 14794616787.

rs1479461678 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 22:24440647 (GRCh38)
22:24836615 (GRCh37)
Canonical SPDI:: NC_000022.11:24440646:T:A
Gene:: ADORA2A (Varview), ADORA2A-AS1 (Varview), SPECC1L-ADORA2A (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,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_000022.11:g.24440647T>A, NC_000022.10:g.24836615T>A, NG_052804.1:g.22051T>A, NM_000675.6:c.397T>A, NM_000675.5:c.397T>A, NM_001278497.2:c.397T>A, NM_001278497.1:c.397T>A, NM_001278499.2:c.397T>A, NM_001278499.1:c.397T>A, NM_001278498.2:c.397T>A, NM_001278498.1:c.397T>A, NM_001278500.2:c.397T>A, NM_001278500.1:c.397T>A, NR_103543.2:n.213T>A, NR_103543.1:n.250T>A, NR_103544.2:n.193T>A, NR_103544.1:n.230T>A, NR_103546.1:n.4576T>A, NP_000666.2:p.Phe133Ile, NP_001265426.1:p.Phe133Ile, NP_001265428.1:p.Phe133Ile, NP_001265427.1:p.Phe133Ile, NP_001265429.1:p.Phe133Ile

Select item 14753357408.

rs1475335740 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 22:24441205 (GRCh38)
22:24837173 (GRCh37)
Canonical SPDI:: NC_000022.11:24441204:A:T
Gene:: ADORA2A (Varview), ADORA2A-AS1 (Varview), SPECC1L-ADORA2A (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000022.11:g.24441205A>T, NC_000022.10:g.24837173A>T, NG_052804.1:g.22609A>T, NM_000675.6:c.955A>T, NM_000675.5:c.955A>T, NM_001278497.2:c.955A>T, NM_001278497.1:c.955A>T, NM_001278499.2:c.955A>T, NM_001278499.1:c.955A>T, NM_001278498.2:c.955A>T, NM_001278498.1:c.955A>T, NM_001278500.2:c.955A>T, NM_001278500.1:c.955A>T, NR_103543.2:n.771A>T, NR_103543.1:n.808A>T, NR_103544.2:n.751A>T, NR_103544.1:n.788A>T, NR_103546.1:n.5134A>T, NP_000666.2:p.Thr319Ser, NP_001265426.1:p.Thr319Ser, NP_001265428.1:p.Thr319Ser, NP_001265427.1:p.Thr319Ser, NP_001265429.1:p.Thr319Ser

Select item 14698316619.

rs1469831661 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:24440629 (GRCh38)
22:24836597 (GRCh37)
Canonical SPDI:: NC_000022.11:24440628:A:G
Gene:: ADORA2A (Varview), ADORA2A-AS1 (Varview), SPECC1L-ADORA2A (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.24440629A>G, NC_000022.10:g.24836597A>G, NG_052804.1:g.22033A>G, NM_000675.6:c.379A>G, NM_000675.5:c.379A>G, NM_001278497.2:c.379A>G, NM_001278497.1:c.379A>G, NM_001278499.2:c.379A>G, NM_001278499.1:c.379A>G, NM_001278498.2:c.379A>G, NM_001278498.1:c.379A>G, NM_001278500.2:c.379A>G, NM_001278500.1:c.379A>G, NR_103543.2:n.195A>G, NR_103543.1:n.232A>G, NR_103544.2:n.175A>G, NR_103544.1:n.212A>G, NR_103546.1:n.4558A>G, NP_000666.2:p.Ile127Val, NP_001265426.1:p.Ile127Val, NP_001265428.1:p.Ile127Val, NP_001265427.1:p.Ile127Val, NP_001265429.1:p.Ile127Val

Select item 146968799510.

rs1469687995 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 22:24441026 (GRCh38)
22:24836994 (GRCh37)
Canonical SPDI:: NC_000022.11:24441025:G:A,NC_000022.11:24441025:G:T
Gene:: ADORA2A (Varview), ADORA2A-AS1 (Varview), SPECC1L-ADORA2A (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.24441026G>A, NC_000022.11:g.24441026G>T, NC_000022.10:g.24836994G>A, NC_000022.10:g.24836994G>T, NG_052804.1:g.22430G>A, NG_052804.1:g.22430G>T, NM_000675.6:c.776G>A, NM_000675.6:c.776G>T, NM_000675.5:c.776G>A, NM_000675.5:c.776G>T, NM_001278497.2:c.776G>A, NM_001278497.2:c.776G>T, NM_001278497.1:c.776G>A, NM_001278497.1:c.776G>T, NM_001278499.2:c.776G>A, NM_001278499.2:c.776G>T, NM_001278499.1:c.776G>A, NM_001278499.1:c.776G>T, NM_001278498.2:c.776G>A, NM_001278498.2:c.776G>T, NM_001278498.1:c.776G>A, NM_001278498.1:c.776G>T, NM_001278500.2:c.776G>A, NM_001278500.2:c.776G>T, NM_001278500.1:c.776G>A, NM_001278500.1:c.776G>T, NR_103543.2:n.592G>A, NR_103543.2:n.592G>T, NR_103543.1:n.629G>A, NR_103543.1:n.629G>T, NR_103544.2:n.572G>A, NR_103544.2:n.572G>T, NR_103544.1:n.609G>A, NR_103544.1:n.609G>T, NR_103546.1:n.4955G>A, NR_103546.1:n.4955G>T, NP_000666.2:p.Cys259Tyr, NP_000666.2:p.Cys259Phe, NP_001265426.1:p.Cys259Tyr, NP_001265426.1:p.Cys259Phe, NP_001265428.1:p.Cys259Tyr, NP_001265428.1:p.Cys259Phe, NP_001265427.1:p.Cys259Tyr, NP_001265427.1:p.Cys259Phe, NP_001265429.1:p.Cys259Tyr, NP_001265429.1:p.Cys259Phe

Select item 146756734311.

rs1467567343 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 22:24440712 (GRCh38)
22:24836680 (GRCh37)
Canonical SPDI:: NC_000022.11:24440711:C:A,NC_000022.11:24440711:C:G
Gene:: ADORA2A (Varview), ADORA2A-AS1 (Varview), SPECC1L-ADORA2A (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.24440712C>A, NC_000022.11:g.24440712C>G, NC_000022.10:g.24836680C>A, NC_000022.10:g.24836680C>G, NG_052804.1:g.22116C>A, NG_052804.1:g.22116C>G, NM_000675.6:c.462C>A, NM_000675.6:c.462C>G, NM_000675.5:c.462C>A, NM_000675.5:c.462C>G, NM_001278497.2:c.462C>A, NM_001278497.2:c.462C>G, NM_001278497.1:c.462C>A, NM_001278497.1:c.462C>G, NM_001278499.2:c.462C>A, NM_001278499.2:c.462C>G, NM_001278499.1:c.462C>A, NM_001278499.1:c.462C>G, NM_001278498.2:c.462C>A, NM_001278498.2:c.462C>G, NM_001278498.1:c.462C>A, NM_001278498.1:c.462C>G, NM_001278500.2:c.462C>A, NM_001278500.2:c.462C>G, NM_001278500.1:c.462C>A, NM_001278500.1:c.462C>G, NR_103543.2:n.278C>A, NR_103543.2:n.278C>G, NR_103543.1:n.315C>A, NR_103543.1:n.315C>G, NR_103544.2:n.258C>A, NR_103544.2:n.258C>G, NR_103544.1:n.295C>A, NR_103544.1:n.295C>G, NR_103546.1:n.4641C>A, NR_103546.1:n.4641C>G, NP_000666.2:p.Asn154Lys, NP_000666.2:p.Asn154Lys, NP_001265426.1:p.Asn154Lys, NP_001265426.1:p.Asn154Lys, NP_001265428.1:p.Asn154Lys, NP_001265428.1:p.Asn154Lys, NP_001265427.1:p.Asn154Lys, NP_001265427.1:p.Asn154Lys, NP_001265429.1:p.Asn154Lys, NP_001265429.1:p.Asn154Lys

Select item 146728731512.

rs1467287315 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 22:24433606 (GRCh38)
22:24829574 (GRCh37)
Canonical SPDI:: NC_000022.11:24433605:A:T
Gene:: ADORA2A (Varview), ADORA2A-AS1 (Varview), SPECC1L-ADORA2A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_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)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000022.11:g.24433606A>T, NC_000022.10:g.24829574A>T, NG_052804.1:g.15010A>T, NM_000675.6:c.202A>T, NM_000675.5:c.202A>T, NM_001278497.2:c.202A>T, NM_001278497.1:c.202A>T, NM_001278499.2:c.202A>T, NM_001278499.1:c.202A>T, NM_001278498.2:c.202A>T, NM_001278498.1:c.202A>T, NM_001278500.2:c.202A>T, NM_001278500.1:c.202A>T, NR_103546.1:n.4381A>T, NP_000666.2:p.Thr68Ser, NP_001265426.1:p.Thr68Ser, NP_001265428.1:p.Thr68Ser, NP_001265427.1:p.Thr68Ser, NP_001265429.1:p.Thr68Ser

Select item 146164749813.

rs1461647498 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:24433571 (GRCh38)
22:24829539 (GRCh37)
Canonical SPDI:: NC_000022.11:24433570:G:A
Gene:: ADORA2A (Varview), ADORA2A-AS1 (Varview), SPECC1L-ADORA2A (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.24433571G>A, NC_000022.10:g.24829539G>A, NG_052804.1:g.14975G>A, NM_000675.6:c.167G>A, NM_000675.5:c.167G>A, NM_001278497.2:c.167G>A, NM_001278497.1:c.167G>A, NM_001278499.2:c.167G>A, NM_001278499.1:c.167G>A, NM_001278498.2:c.167G>A, NM_001278498.1:c.167G>A, NM_001278500.2:c.167G>A, NM_001278500.1:c.167G>A, NR_103546.1:n.4346G>A, NP_000666.2:p.Gly56Asp, NP_001265426.1:p.Gly56Asp, NP_001265428.1:p.Gly56Asp, NP_001265427.1:p.Gly56Asp, NP_001265429.1:p.Gly56Asp

Select item 146110834914.

rs1461108349 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:24440761 (GRCh38)
22:24836729 (GRCh37)
Canonical SPDI:: NC_000022.11:24440760:G:A
Gene:: ADORA2A (Varview), ADORA2A-AS1 (Varview), SPECC1L-ADORA2A (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.24440761G>A, NC_000022.10:g.24836729G>A, NG_052804.1:g.22165G>A, NM_000675.6:c.511G>A, NM_000675.5:c.511G>A, NM_001278497.2:c.511G>A, NM_001278497.1:c.511G>A, NM_001278499.2:c.511G>A, NM_001278499.1:c.511G>A, NM_001278498.2:c.511G>A, NM_001278498.1:c.511G>A, NM_001278500.2:c.511G>A, NM_001278500.1:c.511G>A, NR_103543.2:n.327G>A, NR_103543.1:n.364G>A, NR_103544.2:n.307G>A, NR_103544.1:n.344G>A, NR_103546.1:n.4690G>A, NP_000666.2:p.Val171Met, NP_001265426.1:p.Val171Met, NP_001265428.1:p.Val171Met, NP_001265427.1:p.Val171Met, NP_001265429.1:p.Val171Met

Select item 146065938415.

rs1460659384 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:24440850 (GRCh38)
22:24836818 (GRCh37)
Canonical SPDI:: NC_000022.11:24440849:C:T
Gene:: ADORA2A (Varview), ADORA2A-AS1 (Varview), SPECC1L-ADORA2A (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000446/2 (Estonian)
HGVS:: NC_000022.11:g.24440850C>T, NC_000022.10:g.24836818C>T, NG_052804.1:g.22254C>T, NM_000675.6:c.600C>T, NM_000675.5:c.600C>T, NM_001278497.2:c.600C>T, NM_001278497.1:c.600C>T, NM_001278499.2:c.600C>T, NM_001278499.1:c.600C>T, NM_001278498.2:c.600C>T, NM_001278498.1:c.600C>T, NM_001278500.2:c.600C>T, NM_001278500.1:c.600C>T, NR_103543.2:n.416C>T, NR_103543.1:n.453C>T, NR_103544.2:n.396C>T, NR_103544.1:n.433C>T, NR_103546.1:n.4779C>T

Select item 145763810116.

rs1457638101 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:24441337 (GRCh38)
22:24837305 (GRCh37)
Canonical SPDI:: NC_000022.11:24441336:C:T
Gene:: ADORA2A (Varview), ADORA2A-AS1 (Varview), SPECC1L-ADORA2A (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.00003/8 (TOPMED)
HGVS:: NC_000022.11:g.24441337C>T, NC_000022.10:g.24837305C>T, NG_052804.1:g.22741C>T, NM_000675.6:c.1087C>T, NM_000675.5:c.1087C>T, NM_001278497.2:c.1087C>T, NM_001278497.1:c.1087C>T, NM_001278499.2:c.1087C>T, NM_001278499.1:c.1087C>T, NM_001278498.2:c.1087C>T, NM_001278498.1:c.1087C>T, NM_001278500.2:c.1087C>T, NM_001278500.1:c.1087C>T, NR_103543.2:n.903C>T, NR_103543.1:n.940C>T, NR_103544.2:n.883C>T, NR_103544.1:n.920C>T, NR_103546.1:n.5266C>T

Select item 145674636317.

rs1456746363 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 22:24441211 (GRCh38)
22:24837179 (GRCh37)
Canonical SPDI:: NC_000022.11:24441210:G:A,NC_000022.11:24441210:G:T
Gene:: ADORA2A (Varview), ADORA2A-AS1 (Varview), SPECC1L-ADORA2A (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.24441211G>A, NC_000022.11:g.24441211G>T, NC_000022.10:g.24837179G>A, NC_000022.10:g.24837179G>T, NG_052804.1:g.22615G>A, NG_052804.1:g.22615G>T, NM_000675.6:c.961G>A, NM_000675.6:c.961G>T, NM_000675.5:c.961G>A, NM_000675.5:c.961G>T, NM_001278497.2:c.961G>A, NM_001278497.2:c.961G>T, NM_001278497.1:c.961G>A, NM_001278497.1:c.961G>T, NM_001278499.2:c.961G>A, NM_001278499.2:c.961G>T, NM_001278499.1:c.961G>A, NM_001278499.1:c.961G>T, NM_001278498.2:c.961G>A, NM_001278498.2:c.961G>T, NM_001278498.1:c.961G>A, NM_001278498.1:c.961G>T, NM_001278500.2:c.961G>A, NM_001278500.2:c.961G>T, NM_001278500.1:c.961G>A, NM_001278500.1:c.961G>T, NR_103543.2:n.777G>A, NR_103543.2:n.777G>T, NR_103543.1:n.814G>A, NR_103543.1:n.814G>T, NR_103544.2:n.757G>A, NR_103544.2:n.757G>T, NR_103544.1:n.794G>A, NR_103544.1:n.794G>T, NR_103546.1:n.5140G>A, NR_103546.1:n.5140G>T, NP_000666.2:p.Ala321Thr, NP_000666.2:p.Ala321Ser, NP_001265426.1:p.Ala321Thr, NP_001265426.1:p.Ala321Ser, NP_001265428.1:p.Ala321Thr, NP_001265428.1:p.Ala321Ser, NP_001265427.1:p.Ala321Thr, NP_001265427.1:p.Ala321Ser, NP_001265429.1:p.Ala321Thr, NP_001265429.1:p.Ala321Ser

Select item 145573861918.

rs1455738619 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 22:24433482 (GRCh38)
22:24829450 (GRCh37)
Canonical SPDI:: NC_000022.11:24433481:G:A,NC_000022.11:24433481:G:C,NC_000022.11:24433481:G:T
Gene:: ADORA2A (Varview), ADORA2A-AS1 (Varview), SPECC1L-ADORA2A (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.24433482G>A, NC_000022.11:g.24433482G>C, NC_000022.11:g.24433482G>T, NC_000022.10:g.24829450G>A, NC_000022.10:g.24829450G>C, NC_000022.10:g.24829450G>T, NG_052804.1:g.14886G>A, NG_052804.1:g.14886G>C, NG_052804.1:g.14886G>T, NM_000675.6:c.78G>A, NM_000675.6:c.78G>C, NM_000675.6:c.78G>T, NM_000675.5:c.78G>A, NM_000675.5:c.78G>C, NM_000675.5:c.78G>T, NM_001278497.2:c.78G>A, NM_001278497.2:c.78G>C, NM_001278497.2:c.78G>T, NM_001278497.1:c.78G>A, NM_001278497.1:c.78G>C, NM_001278497.1:c.78G>T, NM_001278499.2:c.78G>A, NM_001278499.2:c.78G>C, NM_001278499.2:c.78G>T, NM_001278499.1:c.78G>A, NM_001278499.1:c.78G>C, NM_001278499.1:c.78G>T, NM_001278498.2:c.78G>A, NM_001278498.2:c.78G>C, NM_001278498.2:c.78G>T, NM_001278498.1:c.78G>A, NM_001278498.1:c.78G>C, NM_001278498.1:c.78G>T, NM_001278500.2:c.78G>A, NM_001278500.2:c.78G>C, NM_001278500.2:c.78G>T, NM_001278500.1:c.78G>A, NM_001278500.1:c.78G>C, NM_001278500.1:c.78G>T, NR_103546.1:n.4257G>A, NR_103546.1:n.4257G>C, NR_103546.1:n.4257G>T

Select item 145500677919.

rs1455006779 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTC>- [Show Flanks]
Chromosome:: 22:24433639 (GRCh38)
22:24829607 (GRCh37)
Canonical SPDI:: NC_000022.11:24433636:TCTTC:TC
Gene:: ADORA2A (Varview), ADORA2A-AS1 (Varview), SPECC1L-ADORA2A (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant,inframe_deletion,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.24433639_24433641del, NC_000022.10:g.24829607_24829609del, NG_052804.1:g.15043_15045del, NM_000675.6:c.235_237del, NM_000675.5:c.235_237del, NM_001278497.2:c.235_237del, NM_001278497.1:c.235_237del, NM_001278499.2:c.235_237del, NM_001278499.1:c.235_237del, NM_001278498.2:c.235_237del, NM_001278498.1:c.235_237del, NM_001278500.2:c.235_237del, NM_001278500.1:c.235_237del, NR_103546.1:n.4414_4416del, NP_000666.2:p.Phe79del, NP_001265426.1:p.Phe79del, NP_001265428.1:p.Phe79del, NP_001265427.1:p.Phe79del, NP_001265429.1:p.Phe79del

Select item 144979663020.

rs1449796630 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:24441117 (GRCh38)
22:24837085 (GRCh37)
Canonical SPDI:: NC_000022.11:24441116:C:T
Gene:: ADORA2A (Varview), ADORA2A-AS1 (Varview), SPECC1L-ADORA2A (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.24441117C>T, NC_000022.10:g.24837085C>T, NG_052804.1:g.22521C>T, NM_000675.6:c.867C>T, NM_000675.5:c.867C>T, NM_001278497.2:c.867C>T, NM_001278497.1:c.867C>T, NM_001278499.2:c.867C>T, NM_001278499.1:c.867C>T, NM_001278498.2:c.867C>T, NM_001278498.1:c.867C>T, NM_001278500.2:c.867C>T, NM_001278500.1:c.867C>T, NR_103543.2:n.683C>T, NR_103543.1:n.720C>T, NR_103544.2:n.663C>T, NR_103544.1:n.700C>T, NR_103546.1:n.5046C>T

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