Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant Genes: PPP2R1A (Hsa) Molecular Consequence: missense variant
(GRCh38)19:52211264C>T
(Homo sapiens)Allele/Variant
Source: rs950558629
Genes: PPP2R1A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, 5_prime_UTR_variant, non_coding_transcript_exon_variant
Diseases: Not Available
Variant Name: (GRCh38)19:52211264C>T
(GRCh38)19:52190146T>C
(Homo sapiens)Allele/Variant
Source: rs1290240005
Genes: PPP2R1A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, 5_prime_UTR_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)19:52190146T>C
(GRCh38)19:52211389C>T
(Homo sapiens)Allele/Variant
Source: rs546812521
Genes: PPP2R1A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, 5_prime_UTR_variant, non_coding_transcript_exon_variant
Diseases: Not Available
Variant Name: (GRCh38)19:52211389C>T
(GRCh38)19:52216543T>G
(Homo sapiens)Allele/Variant
Source: NC_000019.10:g.52216543T>G
Genes: PPP2R1A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant
Diseases: Not Available
Variant Name: (GRCh38)19:52216543T>G
(GRCh38)19:52222127T>C
(Homo sapiens)Allele/Variant
Source: rs778543586
Genes: PPP2R1A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, synonymous_variant
Diseases: Not Available
Variant Name: (GRCh38)19:52222127T>C
(GRCh38)19:52220201T>C
(Homo sapiens)Allele/Variant
Source: NC_000019.10:g.52220201T>C
Genes: PPP2R1A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)19:52220201T>C
(GRCh38)19:52220981T>C
(Homo sapiens)Allele/Variant
Source: rs746735616
Genes: PPP2R1A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: splice_region_variant, missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)19:52220981T>C
(GRCh38)19:52221062A>C
(Homo sapiens)Allele/Variant
Source: rs1978894659
Genes: PPP2R1A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)19:52221062A>C
(GRCh38)19:52212721T>C
(Homo sapiens)Allele/Variant
Source: rs1600167941
Genes: PPP2R1A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, start_lost
Diseases: Not Available
Variant Name: (GRCh38)19:52212721T>C
(GRCh38)19:52212729C>T
(Homo sapiens)Allele/Variant
Source: rs1057519946
Genes: PPP2R1A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant
Diseases: Not Available
Variant Name: (GRCh38)19:52212729C>T
(GRCh38)19:52211461G>C
(Homo sapiens)Allele/Variant
Source: rs2122330245
Genes: PPP2R1A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, 5_prime_UTR_variant, non_coding_transcript_exon_variant
Diseases: Not Available
Variant Name: (GRCh38)19:52211461G>C
(GRCh38)19:52211473G>A
(Homo sapiens)Allele/Variant
Source: rs146859239
Genes: PPP2R1A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, 5_prime_UTR_variant, non_coding_transcript_exon_variant
Diseases: Not Available
Variant Name: (GRCh38)19:52211473G>A
(GRCh38)19:52222168G>A
(Homo sapiens)Allele/Variant
Source: rs766471656
Genes: PPP2R1A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, stop_gained, non_coding_transcript_exon_variant
Diseases: Not Available
Variant Name: (GRCh38)19:52222168G>A
(GRCh38)19:52221086G>A
(Homo sapiens)Allele/Variant
Source: rs969720045
Genes: PPP2R1A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)19:52221086G>A
(GRCh38)19:52225749A>G
(Homo sapiens)Allele/Variant
Source: NC_000019.10:g.52225749A>G
Genes: PPP2R1A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, synonymous_variant
Diseases: Not Available
Variant Name: (GRCh38)19:52225749A>G
(GRCh38)19:52225782A>G
(Homo sapiens)Allele/Variant
Source: NC_000019.10:g.52225782A>G
Genes: PPP2R1A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, synonymous_variant
Diseases: Not Available
Variant Name: (GRCh38)19:52225782A>G
(GRCh38)19:52206049G>A
(Homo sapiens)Allele/Variant
Source: rs1377540471
Genes: PPP2R1A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, 5_prime_UTR_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)19:52206049G>A
(GRCh38)19:52211459G>A
(Homo sapiens)Allele/Variant
Source: rs111525410
Genes: PPP2R1A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, 5_prime_UTR_variant, non_coding_transcript_exon_variant
Diseases: Not Available
Variant Name: (GRCh38)19:52211459G>A
(GRCh38)19:52213040C>G
(Homo sapiens)Allele/Variant
Source: rs2122338423
Genes: PPP2R1A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant
Diseases: Not Available
Variant Name: (GRCh38)19:52213040C>G
(GRCh38)19:52213054G>T
(Homo sapiens)Allele/Variant
Source: rs777150923
Genes: PPP2R1A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant
Diseases: Not Available
Variant Name: (GRCh38)19:52213054G>T
(GRCh38)19:52190111C>G
(Homo sapiens)Allele/Variant
Source: rs2089438141
Genes: PPP2R1A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, 5_prime_UTR_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)19:52190111C>G
(GRCh38)19:52215875G>A
(Homo sapiens)Allele/Variant
Source: rs2122348708
Genes: PPP2R1A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant
Diseases: Not Available
Variant Name: (GRCh38)19:52215875G>A
(GRCh38)19:52221065C>T
(Homo sapiens)Allele/Variant
Source: NC_000019.10:g.52221065C>T
Genes: PPP2R1A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)19:52221065C>T
(GRCh38)19:52221106C>T
(Homo sapiens)Allele/Variant
Source: rs750426851
Genes: PPP2R1A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, synonymous_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)19:52221106C>T
(GRCh38)19:52212983C>T
(Homo sapiens)Allele/Variant
Source: rs945817997
Genes: PPP2R1A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant
Diseases: Not Available
Variant Name: (GRCh38)19:52212983C>T
(GRCh38)19:52215872G>T
(Homo sapiens)Allele/Variant
Source: NC_000019.10:g.52215872G>T
Genes: PPP2R1A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant
Diseases: Not Available
Variant Name: (GRCh38)19:52215872G>T
(GRCh38)19:52212786A>C
(Homo sapiens)Allele/Variant
Source: rs759982626
Genes: PPP2R1A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant
Diseases: Not Available
Variant Name: (GRCh38)19:52212786A>C
(GRCh38)19:52211366C>T
(Homo sapiens)Allele/Variant
Source: rs527266620
Genes: PPP2R1A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, 5_prime_UTR_variant, non_coding_transcript_exon_variant
Diseases: Not Available
Variant Name: (GRCh38)19:52211366C>T
(GRCh38)19:52219729C>A
(Homo sapiens)Allele/Variant
Source: NC_000019.10:g.52219729C>A
Genes: PPP2R1A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)19:52219729C>A
(GRCh38)19:52219809A>G
(Homo sapiens)Allele/Variant
Source: rs1447032127
Genes: PPP2R1A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)19:52219809A>G
(GRCh38)19:52190157C>T
(Homo sapiens)Allele/Variant
Source: NC_000019.10:g.52190157C>T
Genes: PPP2R1A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, 5_prime_UTR_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)19:52190157C>T
(GRCh38)19:52225802C>A
(Homo sapiens)Allele/Variant
Source: rs1379445826
Genes: PPP2R1A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant
Diseases: Not Available
Variant Name: (GRCh38)19:52225802C>A
(GRCh38)19:52206025A>G
(Homo sapiens)Allele/Variant
Source: NC_000019.10:g.52206025A>G
Genes: PPP2R1A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, 5_prime_UTR_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)19:52206025A>G
(GRCh38)19:52220999G>C
(Homo sapiens)Allele/Variant
Source: rs2122364608
Genes: PPP2R1A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)19:52220999G>C
(GRCh38)19:52213078G>A
(Homo sapiens)Allele/Variant
Source: rs2089688265
Genes: PPP2R1A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant
Diseases: Not Available
Variant Name: (GRCh38)19:52213078G>A
(GRCh38)19:52206025A>C
(Homo sapiens)Allele/Variant
Source: rs559725266
Genes: PPP2R1A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, 5_prime_UTR_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)19:52206025A>C
(GRCh38)19:52206052C>T
(Homo sapiens)Allele/Variant
Source: rs144146832
Genes: PPP2R1A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, 5_prime_UTR_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)19:52206052C>T
(GRCh38)19:52216042G>A
(Homo sapiens)Allele/Variant
Source: NC_000019.10:g.52216042G>A
Genes: PPP2R1A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant
Diseases: Not Available
Variant Name: (GRCh38)19:52216042G>A
(GRCh38)19:52222191C>T
(Homo sapiens)Allele/Variant
Source: rs1978980122
Genes: PPP2R1A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, synonymous_variant
Diseases: Not Available
Variant Name: (GRCh38)19:52222191C>T
(GRCh38)19:52212735G>T
(Homo sapiens)Allele/Variant
Source: rs1348762266
Genes: PPP2R1A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant
Diseases: Not Available
Variant Name: (GRCh38)19:52212735G>T
(GRCh38)19:52212730G>A
(Homo sapiens)Allele/Variant
Source: rs1057519947
Genes: PPP2R1A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant
Diseases: Not Available
Variant Name: (GRCh38)19:52212730G>A
(GRCh38)19:52205951T>C
(Homo sapiens)Allele/Variant
Source: rs768335724
Genes: PPP2R1A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)19:52205951T>C
(GRCh38)19:52205954G>A
(Homo sapiens)Allele/Variant
Source: NC_000019.10:g.52205954G>A
Genes: PPP2R1A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)19:52205954G>A
(GRCh38)19:52213019A>T
(Homo sapiens)Allele/Variant
Source: rs2089687182
Genes: PPP2R1A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant
Diseases: Not Available
Variant Name: (GRCh38)19:52213019A>T
(GRCh38)19:52213076G>A
(Homo sapiens)Allele/Variant
Source: rs863225094
Genes: PPP2R1A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant
Diseases: Not Available
Variant Name: (GRCh38)19:52213076G>A
(GRCh38)19:52190185T>C
(Homo sapiens)Allele/Variant
Source: rs201099965
Genes: PPP2R1A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)19:52190185T>C
(GRCh38)19:52211306A>G
(Homo sapiens)Allele/Variant
Source: NC_000019.10:g.52211306A>G
Genes: PPP2R1A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, 5_prime_UTR_variant, non_coding_transcript_exon_variant
Diseases: Not Available
Variant Name: (GRCh38)19:52211306A>G
(GRCh38)19:52190162T>A
(Homo sapiens)Allele/Variant
Source: rs2122267837
Genes: PPP2R1A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, 5_prime_UTR_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)19:52190162T>A
(GRCh38)19:52200275G>A
(Homo sapiens)Allele/Variant
Source: rs189657964
Genes: PPP2R1A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: splice_region_variant, missense_variant, 5_prime_UTR_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)19:52200275G>A
(GRCh38)19:52211437C>G
(Homo sapiens)Allele/Variant
Source: rs1369744426
Genes: PPP2R1A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, 5_prime_UTR_variant, non_coding_transcript_exon_variant
Diseases: Not Available
Variant Name: (GRCh38)19:52211437C>G