SNP Links for Protein (Select 5031705) - SNP

Select item 14891061421.

rs1489106142 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:64073996 (GRCh38)
20:62705349 (GRCh37)
Canonical SPDI:: NC_000020.11:64073995:C:G
Gene:: RGS19 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.64073996C>G, NC_000020.10:g.62705349C>G, XM_005260182.4:c.445G>C, XM_005260182.3:c.445G>C, XM_005260182.2:c.445G>C, XM_005260182.1:c.445G>C, XM_011528485.3:c.511G>C, XM_011528485.2:c.511G>C, XM_011528485.1:c.511G>C, NM_005873.3:c.511G>C, NM_005873.2:c.511G>C, XM_011528484.3:c.598G>C, XM_011528484.2:c.598G>C, XM_011528484.1:c.598G>C, XM_005260183.3:c.445G>C, XM_005260183.2:c.445G>C, XM_005260183.1:c.445G>C, NM_001039467.2:c.511G>C, NM_001039467.1:c.511G>C, XM_047439824.1:c.511G>C, XP_005260239.1:p.Glu149Gln, XP_011526787.1:p.Glu171Gln, NP_005864.1:p.Glu171Gln, XP_011526786.1:p.Glu200Gln, XP_005260240.1:p.Glu149Gln, NP_001034556.1:p.Glu171Gln, XP_047295780.1:p.Glu171Gln

Select item 14847588392.

rs1484758839 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:64074374 (GRCh38)
20:62705727 (GRCh37)
Canonical SPDI:: NC_000020.11:64074373:T:C
Gene:: RGS19 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.64074374T>C, NC_000020.10:g.62705727T>C, XM_005260182.4:c.166A>G, XM_005260182.3:c.166A>G, XM_005260182.2:c.166A>G, XM_005260182.1:c.166A>G, XM_011528485.3:c.232A>G, XM_011528485.2:c.232A>G, XM_011528485.1:c.232A>G, NM_005873.3:c.232A>G, NM_005873.2:c.232A>G, XM_011528484.3:c.319A>G, XM_011528484.2:c.319A>G, XM_011528484.1:c.319A>G, XM_005260183.3:c.166A>G, XM_005260183.2:c.166A>G, XM_005260183.1:c.166A>G, NM_001039467.2:c.232A>G, NM_001039467.1:c.232A>G, XM_047439824.1:c.232A>G, XP_005260239.1:p.Thr56Ala, XP_011526787.1:p.Thr78Ala, NP_005864.1:p.Thr78Ala, XP_011526786.1:p.Thr107Ala, XP_005260240.1:p.Thr56Ala, NP_001034556.1:p.Thr78Ala, XP_047295780.1:p.Thr78Ala

Select item 14829071413.

rs1482907141 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:64074152 (GRCh38)
20:62705505 (GRCh37)
Canonical SPDI:: NC_000020.11:64074151:G:A
Gene:: RGS19 (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_000020.11:g.64074152G>A, NC_000020.10:g.62705505G>A, XM_005260182.4:c.388C>T, XM_005260182.3:c.388C>T, XM_005260182.2:c.388C>T, XM_005260182.1:c.388C>T, XM_011528485.3:c.454C>T, XM_011528485.2:c.454C>T, XM_011528485.1:c.454C>T, NM_005873.3:c.454C>T, NM_005873.2:c.454C>T, XM_011528484.3:c.541C>T, XM_011528484.2:c.541C>T, XM_011528484.1:c.541C>T, XM_005260183.3:c.388C>T, XM_005260183.2:c.388C>T, XM_005260183.1:c.388C>T, NM_001039467.2:c.454C>T, NM_001039467.1:c.454C>T, XM_047439824.1:c.454C>T, XP_005260239.1:p.Pro130Ser, XP_011526787.1:p.Pro152Ser, NP_005864.1:p.Pro152Ser, XP_011526786.1:p.Pro181Ser, XP_005260240.1:p.Pro130Ser, NP_001034556.1:p.Pro152Ser, XP_047295780.1:p.Pro152Ser

Select item 14659140924.

rs1465914092 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:64073951 (GRCh38)
20:62705304 (GRCh37)
Canonical SPDI:: NC_000020.11:64073950:T:C
Gene:: RGS19 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000043/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.64073951T>C, NC_000020.10:g.62705304T>C, XM_005260182.4:c.490A>G, XM_005260182.3:c.490A>G, XM_005260182.2:c.490A>G, XM_005260182.1:c.490A>G, XM_011528485.3:c.556A>G, XM_011528485.2:c.556A>G, XM_011528485.1:c.556A>G, NM_005873.3:c.556A>G, NM_005873.2:c.556A>G, XM_011528484.3:c.643A>G, XM_011528484.2:c.643A>G, XM_011528484.1:c.643A>G, XM_005260183.3:c.490A>G, XM_005260183.2:c.490A>G, XM_005260183.1:c.490A>G, NM_001039467.2:c.556A>G, NM_001039467.1:c.556A>G, XM_047439824.1:c.556A>G, XP_005260239.1:p.Thr164Ala, XP_011526787.1:p.Thr186Ala, NP_005864.1:p.Thr186Ala, XP_011526786.1:p.Thr215Ala, XP_005260240.1:p.Thr164Ala, NP_001034556.1:p.Thr186Ala, XP_047295780.1:p.Thr186Ala

Select item 14636705905.

rs1463670590 [Homo sapiens]

Variant type:: DEL
Alleles:: CGTGTG>- [Show Flanks]
Chromosome:: 20:64073979 (GRCh38)
20:62705332 (GRCh37)
Canonical SPDI:: NC_000020.11:64073978:CGTGTG:
Gene:: RGS19 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000020.11:g.64073979_64073984del, NC_000020.10:g.62705332_62705337del, XM_005260182.4:c.457_462del, XM_005260182.3:c.457_462del, XM_005260182.2:c.457_462del, XM_005260182.1:c.457_462del, XM_011528485.3:c.523_528del, XM_011528485.2:c.523_528del, XM_011528485.1:c.523_528del, NM_005873.3:c.523_528del, NM_005873.2:c.523_528del, XM_011528484.3:c.610_615del, XM_011528484.2:c.610_615del, XM_011528484.1:c.610_615del, XM_005260183.3:c.457_462del, XM_005260183.2:c.457_462del, XM_005260183.1:c.457_462del, NM_001039467.2:c.523_528del, NM_001039467.1:c.523_528del, XM_047439824.1:c.523_528del, XP_005260239.1:p.His153_Thr154del, XP_011526787.1:p.His175_Thr176del, NP_005864.1:p.His175_Thr176del, XP_011526786.1:p.His204_Thr205del, XP_005260240.1:p.His153_Thr154del, NP_001034556.1:p.His175_Thr176del, XP_047295780.1:p.His175_Thr176del

Select item 14564235616.

rs1456423561 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:64074234 (GRCh38)
20:62705587 (GRCh37)
Canonical SPDI:: NC_000020.11:64074233:C:T
Gene:: RGS19 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.64074234C>T, NC_000020.10:g.62705587C>T, XM_005260182.4:c.306G>A, XM_005260182.3:c.306G>A, XM_005260182.2:c.306G>A, XM_005260182.1:c.306G>A, XM_011528485.3:c.372G>A, XM_011528485.2:c.372G>A, XM_011528485.1:c.372G>A, NM_005873.3:c.372G>A, NM_005873.2:c.372G>A, XM_011528484.3:c.459G>A, XM_011528484.2:c.459G>A, XM_011528484.1:c.459G>A, XM_005260183.3:c.306G>A, XM_005260183.2:c.306G>A, XM_005260183.1:c.306G>A, NM_001039467.2:c.372G>A, NM_001039467.1:c.372G>A, XM_047439824.1:c.372G>A

Select item 14518416637.

rs1451841663 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 20:64074506 (GRCh38)
20:62705859 (GRCh37)
Canonical SPDI:: NC_000020.11:64074505:C:A,NC_000020.11:64074505:C:T
Gene:: RGS19 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00005/7 (GnomAD)
T=0.000053/14 (TOPMED)
HGVS:: NC_000020.11:g.64074506C>A, NC_000020.11:g.64074506C>T, NC_000020.10:g.62705859C>A, NC_000020.10:g.62705859C>T, XM_005260182.4:c.122G>T, XM_005260182.4:c.122G>A, XM_005260182.3:c.122G>T, XM_005260182.3:c.122G>A, XM_005260182.2:c.122G>T, XM_005260182.2:c.122G>A, XM_005260182.1:c.122G>T, XM_005260182.1:c.122G>A, XM_011528485.3:c.188G>T, XM_011528485.3:c.188G>A, XM_011528485.2:c.188G>T, XM_011528485.2:c.188G>A, XM_011528485.1:c.188G>T, XM_011528485.1:c.188G>A, NM_005873.3:c.188G>T, NM_005873.3:c.188G>A, NM_005873.2:c.188G>T, NM_005873.2:c.188G>A, XM_011528484.3:c.275G>T, XM_011528484.3:c.275G>A, XM_011528484.2:c.275G>T, XM_011528484.2:c.275G>A, XM_011528484.1:c.275G>T, XM_011528484.1:c.275G>A, XM_005260183.3:c.122G>T, XM_005260183.3:c.122G>A, XM_005260183.2:c.122G>T, XM_005260183.2:c.122G>A, XM_005260183.1:c.122G>T, XM_005260183.1:c.122G>A, NM_001039467.2:c.188G>T, NM_001039467.2:c.188G>A, NM_001039467.1:c.188G>T, NM_001039467.1:c.188G>A, XM_047439824.1:c.188G>T, XM_047439824.1:c.188G>A, XP_005260239.1:p.Arg41Leu, XP_005260239.1:p.Arg41Gln, XP_011526787.1:p.Arg63Leu, XP_011526787.1:p.Arg63Gln, NP_005864.1:p.Arg63Leu, NP_005864.1:p.Arg63Gln, XP_011526786.1:p.Arg92Leu, XP_011526786.1:p.Arg92Gln, XP_005260240.1:p.Arg41Leu, XP_005260240.1:p.Arg41Gln, NP_001034556.1:p.Arg63Leu, NP_001034556.1:p.Arg63Gln, XP_047295780.1:p.Arg63Leu, XP_047295780.1:p.Arg63Gln

Select item 14507665828.

rs1450766582 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:64073894 (GRCh38)
20:62705247 (GRCh37)
Canonical SPDI:: NC_000020.11:64073893:G:A
Gene:: RGS19 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000020.11:g.64073894G>A, NC_000020.10:g.62705247G>A, XM_005260182.4:c.547C>T, XM_005260182.3:c.547C>T, XM_005260182.2:c.547C>T, XM_005260182.1:c.547C>T, XM_011528485.3:c.613C>T, XM_011528485.2:c.613C>T, XM_011528485.1:c.613C>T, NM_005873.3:c.613C>T, NM_005873.2:c.613C>T, XM_011528484.3:c.700C>T, XM_011528484.2:c.700C>T, XM_011528484.1:c.700C>T, XM_005260183.3:c.547C>T, XM_005260183.2:c.547C>T, XM_005260183.1:c.547C>T, NM_001039467.2:c.613C>T, NM_001039467.1:c.613C>T, XM_047439824.1:c.613C>T

Select item 14448575289.

rs1444857528 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:64073885 (GRCh38)
20:62705238 (GRCh37)
Canonical SPDI:: NC_000020.11:64073884:G:A
Gene:: RGS19 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.64073885G>A, NC_000020.10:g.62705238G>A, XM_005260182.4:c.556C>T, XM_005260182.3:c.556C>T, XM_005260182.2:c.556C>T, XM_005260182.1:c.556C>T, XM_011528485.3:c.622C>T, XM_011528485.2:c.622C>T, XM_011528485.1:c.622C>T, NM_005873.3:c.622C>T, NM_005873.2:c.622C>T, XM_011528484.3:c.709C>T, XM_011528484.2:c.709C>T, XM_011528484.1:c.709C>T, XM_005260183.3:c.556C>T, XM_005260183.2:c.556C>T, XM_005260183.1:c.556C>T, NM_001039467.2:c.622C>T, NM_001039467.1:c.622C>T, XM_047439824.1:c.622C>T, XP_005260239.1:p.Gln186Ter, XP_011526787.1:p.Gln208Ter, NP_005864.1:p.Gln208Ter, XP_011526786.1:p.Gln237Ter, XP_005260240.1:p.Gln186Ter, NP_001034556.1:p.Gln208Ter, XP_047295780.1:p.Gln208Ter

Select item 144483526310.

rs1444835263 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:64074499 (GRCh38)
20:62705852 (GRCh37)
Canonical SPDI:: NC_000020.11:64074498:G:T
Gene:: RGS19 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.64074499G>T, NC_000020.10:g.62705852G>T, XM_005260182.4:c.129C>A, XM_005260182.3:c.129C>A, XM_005260182.2:c.129C>A, XM_005260182.1:c.129C>A, XM_011528485.3:c.195C>A, XM_011528485.2:c.195C>A, XM_011528485.1:c.195C>A, NM_005873.3:c.195C>A, NM_005873.2:c.195C>A, XM_011528484.3:c.282C>A, XM_011528484.2:c.282C>A, XM_011528484.1:c.282C>A, XM_005260183.3:c.129C>A, XM_005260183.2:c.129C>A, XM_005260183.1:c.129C>A, NM_001039467.2:c.195C>A, NM_001039467.1:c.195C>A, XM_047439824.1:c.195C>A, XP_005260239.1:p.Ser43Arg, XP_011526787.1:p.Ser65Arg, NP_005864.1:p.Ser65Arg, XP_011526786.1:p.Ser94Arg, XP_005260240.1:p.Ser43Arg, NP_001034556.1:p.Ser65Arg, XP_047295780.1:p.Ser65Arg

Select item 144047405411.

rs1440474054 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:64074350 (GRCh38)
20:62705703 (GRCh37)
Canonical SPDI:: NC_000020.11:64074349:T:C
Gene:: RGS19 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000020.11:g.64074350T>C, NC_000020.10:g.62705703T>C, XM_005260182.4:c.190A>G, XM_005260182.3:c.190A>G, XM_005260182.2:c.190A>G, XM_005260182.1:c.190A>G, XM_011528485.3:c.256A>G, XM_011528485.2:c.256A>G, XM_011528485.1:c.256A>G, NM_005873.3:c.256A>G, NM_005873.2:c.256A>G, XM_011528484.3:c.343A>G, XM_011528484.2:c.343A>G, XM_011528484.1:c.343A>G, XM_005260183.3:c.190A>G, XM_005260183.2:c.190A>G, XM_005260183.1:c.190A>G, NM_001039467.2:c.256A>G, NM_001039467.1:c.256A>G, XM_047439824.1:c.256A>G, XP_005260239.1:p.Ser64Gly, XP_011526787.1:p.Ser86Gly, NP_005864.1:p.Ser86Gly, XP_011526786.1:p.Ser115Gly, XP_005260240.1:p.Ser64Gly, NP_001034556.1:p.Ser86Gly, XP_047295780.1:p.Ser86Gly

Select item 143879720512.

rs1438797205 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:64073928 (GRCh38)
20:62705281 (GRCh37)
Canonical SPDI:: NC_000020.11:64073927:G:A
Gene:: RGS19 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0./0 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
HGVS:: NC_000020.11:g.64073928G>A, NC_000020.10:g.62705281G>A, XM_005260182.4:c.513C>T, XM_005260182.3:c.513C>T, XM_005260182.2:c.513C>T, XM_005260182.1:c.513C>T, XM_011528485.3:c.579C>T, XM_011528485.2:c.579C>T, XM_011528485.1:c.579C>T, NM_005873.3:c.579C>T, NM_005873.2:c.579C>T, XM_011528484.3:c.666C>T, XM_011528484.2:c.666C>T, XM_011528484.1:c.666C>T, XM_005260183.3:c.513C>T, XM_005260183.2:c.513C>T, XM_005260183.1:c.513C>T, NM_001039467.2:c.579C>T, NM_001039467.1:c.579C>T, XM_047439824.1:c.579C>T

Select item 142389328313.

rs1423893283 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 20:64073962 (GRCh38)
20:62705315 (GRCh37)
Canonical SPDI:: NC_000020.11:64073961:A:
Gene:: RGS19 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.0003/3 (ALFA)
HGVS:: NC_000020.11:g.64073962del, NC_000020.10:g.62705315del, XM_005260182.4:c.479del, XM_005260182.3:c.479del, XM_005260182.2:c.479del, XM_005260182.1:c.479del, XM_011528485.3:c.545del, XM_011528485.2:c.545del, XM_011528485.1:c.545del, NM_005873.3:c.545del, NM_005873.2:c.545del, XM_011528484.3:c.632del, XM_011528484.2:c.632del, XM_011528484.1:c.632del, XM_005260183.3:c.479del, XM_005260183.2:c.479del, XM_005260183.1:c.479del, NM_001039467.2:c.545del, NM_001039467.1:c.545del, XM_047439824.1:c.545del, XP_005260239.1:p.Leu160fs, XP_011526787.1:p.Leu182fs, NP_005864.1:p.Leu182fs, XP_011526786.1:p.Leu211fs, XP_005260240.1:p.Leu160fs, NP_001034556.1:p.Leu182fs, XP_047295780.1:p.Leu182fs

Select item 141927412914.

rs1419274129 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:64076627 (GRCh38)
20:62707980 (GRCh37)
Canonical SPDI:: NC_000020.11:64076626:G:A
Gene:: RGS19 (Varview), MIR6813 (Varview)
Functional Consequence:: 5_prime_UTR_variant,500B_downstream_variant,coding_sequence_variant,missense_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.64076627G>A, NC_000020.10:g.62707980G>A, XM_005260182.4:c.-17C>T, XM_005260182.3:c.-17C>T, XM_005260182.2:c.-17C>T, XM_005260182.1:c.-17C>T, XM_011528485.3:c.50C>T, XM_011528485.2:c.50C>T, XM_011528485.1:c.50C>T, NM_005873.3:c.50C>T, NM_005873.2:c.50C>T, XM_011528484.3:c.137C>T, XM_011528484.2:c.137C>T, XM_011528484.1:c.137C>T, XM_005260183.3:c.-17C>T, XM_005260183.2:c.-17C>T, XM_005260183.1:c.-17C>T, NM_001039467.2:c.50C>T, NM_001039467.1:c.50C>T, XM_047439824.1:c.50C>T, XP_011526787.1:p.Ala17Val, NP_005864.1:p.Ala17Val, XP_011526786.1:p.Ala46Val, NP_001034556.1:p.Ala17Val, XP_047295780.1:p.Ala17Val

Select item 141647718015.

rs1416477180 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 20:64074485 (GRCh38)
20:62705838 (GRCh37)
Canonical SPDI:: NC_000020.11:64074484:A:T
Gene:: RGS19 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.64074485A>T, NC_000020.10:g.62705838A>T, XM_005260182.4:c.143T>A, XM_005260182.3:c.143T>A, XM_005260182.2:c.143T>A, XM_005260182.1:c.143T>A, XM_011528485.3:c.209T>A, XM_011528485.2:c.209T>A, XM_011528485.1:c.209T>A, NM_005873.3:c.209T>A, NM_005873.2:c.209T>A, XM_011528484.3:c.296T>A, XM_011528484.2:c.296T>A, XM_011528484.1:c.296T>A, XM_005260183.3:c.143T>A, XM_005260183.2:c.143T>A, XM_005260183.1:c.143T>A, NM_001039467.2:c.209T>A, NM_001039467.1:c.209T>A, XM_047439824.1:c.209T>A, XP_005260239.1:p.Leu48His, XP_011526787.1:p.Leu70His, NP_005864.1:p.Leu70His, XP_011526786.1:p.Leu99His, XP_005260240.1:p.Leu48His, NP_001034556.1:p.Leu70His, XP_047295780.1:p.Leu70His

Select item 141593373816.

rs1415933738 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 20:64074236 (GRCh38)
20:62705589 (GRCh37)
Canonical SPDI:: NC_000020.11:64074235:C:G,NC_000020.11:64074235:C:T
Gene:: RGS19 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.64074236C>G, NC_000020.11:g.64074236C>T, NC_000020.10:g.62705589C>G, NC_000020.10:g.62705589C>T, XM_005260182.4:c.304G>C, XM_005260182.4:c.304G>A, XM_005260182.3:c.304G>C, XM_005260182.3:c.304G>A, XM_005260182.2:c.304G>C, XM_005260182.2:c.304G>A, XM_005260182.1:c.304G>C, XM_005260182.1:c.304G>A, XM_011528485.3:c.370G>C, XM_011528485.3:c.370G>A, XM_011528485.2:c.370G>C, XM_011528485.2:c.370G>A, XM_011528485.1:c.370G>C, XM_011528485.1:c.370G>A, NM_005873.3:c.370G>C, NM_005873.3:c.370G>A, NM_005873.2:c.370G>C, NM_005873.2:c.370G>A, XM_011528484.3:c.457G>C, XM_011528484.3:c.457G>A, XM_011528484.2:c.457G>C, XM_011528484.2:c.457G>A, XM_011528484.1:c.457G>C, XM_011528484.1:c.457G>A, XM_005260183.3:c.304G>C, XM_005260183.3:c.304G>A, XM_005260183.2:c.304G>C, XM_005260183.2:c.304G>A, XM_005260183.1:c.304G>C, XM_005260183.1:c.304G>A, NM_001039467.2:c.370G>C, NM_001039467.2:c.370G>A, NM_001039467.1:c.370G>C, NM_001039467.1:c.370G>A, XM_047439824.1:c.370G>C, XM_047439824.1:c.370G>A, XP_005260239.1:p.Glu102Gln, XP_005260239.1:p.Glu102Lys, XP_011526787.1:p.Glu124Gln, XP_011526787.1:p.Glu124Lys, NP_005864.1:p.Glu124Gln, NP_005864.1:p.Glu124Lys, XP_011526786.1:p.Glu153Gln, XP_011526786.1:p.Glu153Lys, XP_005260240.1:p.Glu102Gln, XP_005260240.1:p.Glu102Lys, NP_001034556.1:p.Glu124Gln, NP_001034556.1:p.Glu124Lys, XP_047295780.1:p.Glu124Gln, XP_047295780.1:p.Glu124Lys

Select item 141493773417.

rs1414937734 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:64073926 (GRCh38)
20:62705279 (GRCh37)
Canonical SPDI:: NC_000020.11:64073925:G:T
Gene:: RGS19 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000020.11:g.64073926G>T, NC_000020.10:g.62705279G>T, XM_005260182.4:c.515C>A, XM_005260182.3:c.515C>A, XM_005260182.2:c.515C>A, XM_005260182.1:c.515C>A, XM_011528485.3:c.581C>A, XM_011528485.2:c.581C>A, XM_011528485.1:c.581C>A, NM_005873.3:c.581C>A, NM_005873.2:c.581C>A, XM_011528484.3:c.668C>A, XM_011528484.2:c.668C>A, XM_011528484.1:c.668C>A, XM_005260183.3:c.515C>A, XM_005260183.2:c.515C>A, XM_005260183.1:c.515C>A, NM_001039467.2:c.581C>A, NM_001039467.1:c.581C>A, XM_047439824.1:c.581C>A, XP_005260239.1:p.Pro172His, XP_011526787.1:p.Pro194His, NP_005864.1:p.Pro194His, XP_011526786.1:p.Pro223His, XP_005260240.1:p.Pro172His, NP_001034556.1:p.Pro194His, XP_047295780.1:p.Pro194His

Select item 141077191918.

rs1410771919 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:64074314 (GRCh38)
20:62705667 (GRCh37)
Canonical SPDI:: NC_000020.11:64074313:G:A
Gene:: RGS19 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.64074314G>A, NC_000020.10:g.62705667G>A, XM_005260182.4:c.226C>T, XM_005260182.3:c.226C>T, XM_005260182.2:c.226C>T, XM_005260182.1:c.226C>T, XM_011528485.3:c.292C>T, XM_011528485.2:c.292C>T, XM_011528485.1:c.292C>T, NM_005873.3:c.292C>T, NM_005873.2:c.292C>T, XM_011528484.3:c.379C>T, XM_011528484.2:c.379C>T, XM_011528484.1:c.379C>T, XM_005260183.3:c.226C>T, XM_005260183.2:c.226C>T, XM_005260183.1:c.226C>T, NM_001039467.2:c.292C>T, NM_001039467.1:c.292C>T, XM_047439824.1:c.292C>T, XP_005260239.1:p.Pro76Ser, XP_011526787.1:p.Pro98Ser, NP_005864.1:p.Pro98Ser, XP_011526786.1:p.Pro127Ser, XP_005260240.1:p.Pro76Ser, NP_001034556.1:p.Pro98Ser, XP_047295780.1:p.Pro98Ser

Select item 141032536819.

rs1410325368 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:64074343 (GRCh38)
20:62705696 (GRCh37)
Canonical SPDI:: NC_000020.11:64074342:G:A
Gene:: RGS19 (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_000020.11:g.64074343G>A, NC_000020.10:g.62705696G>A, XM_005260182.4:c.197C>T, XM_005260182.3:c.197C>T, XM_005260182.2:c.197C>T, XM_005260182.1:c.197C>T, XM_011528485.3:c.263C>T, XM_011528485.2:c.263C>T, XM_011528485.1:c.263C>T, NM_005873.3:c.263C>T, NM_005873.2:c.263C>T, XM_011528484.3:c.350C>T, XM_011528484.2:c.350C>T, XM_011528484.1:c.350C>T, XM_005260183.3:c.197C>T, XM_005260183.2:c.197C>T, XM_005260183.1:c.197C>T, NM_001039467.2:c.263C>T, NM_001039467.1:c.263C>T, XM_047439824.1:c.263C>T, XP_005260239.1:p.Ala66Val, XP_011526787.1:p.Ala88Val, NP_005864.1:p.Ala88Val, XP_011526786.1:p.Ala117Val, XP_005260240.1:p.Ala66Val, NP_001034556.1:p.Ala88Val, XP_047295780.1:p.Ala88Val

Select item 140663483320.

rs1406634833 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:64073856 (GRCh38)
20:62705209 (GRCh37)
Canonical SPDI:: NC_000020.11:64073855:G:A
Gene:: RGS19 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000046/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.64073856G>A, NC_000020.10:g.62705209G>A, XM_005260182.4:c.585C>T, XM_005260182.3:c.585C>T, XM_005260182.2:c.585C>T, XM_005260182.1:c.585C>T, XM_011528485.3:c.651C>T, XM_011528485.2:c.651C>T, XM_011528485.1:c.651C>T, NM_005873.3:c.651C>T, NM_005873.2:c.651C>T, XM_011528484.3:c.738C>T, XM_011528484.2:c.738C>T, XM_011528484.1:c.738C>T, XM_005260183.3:c.585C>T, XM_005260183.2:c.585C>T, XM_005260183.1:c.585C>T, NM_001039467.2:c.651C>T, NM_001039467.1:c.651C>T, XM_047439824.1:c.651C>T

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Result Filters

Validation Status

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Global MAF

Custom range

Additional filters

Display Settings:

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Items: 1 to 20 of 245

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