SNP Links for Gene (Select 5518) - SNP

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Select item 14915893741.

rs1491589374 has merged into rs150839742 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGAGAGA>-,GA,GAGA,GAGAGA,GAGAGAGAGA,GAGAGAGAGAGA,GAGAGAGAGAGAGA [Show Flanks]
Chromosome:: 19:52188895 (GRCh38)
19:52692148 (GRCh37)
Canonical SPDI:: NC_000019.10:52188882:GAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGA,NC_000019.10:52188882:GAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGA,NC_000019.10:52188882:GAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGA,NC_000019.10:52188882:GAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGA,NC_000019.10:52188882:GAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:52188882:GAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:52188882:GAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGA
Gene:: PPP2R1A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGAGAGAGAGAGA=0./0 (ALFA)
-=0.125/5 (GENOME_DK)
HGVS:: NC_000019.10:g.52188883GA[6], NC_000019.10:g.52188883GA[7], NC_000019.10:g.52188883GA[8], NC_000019.10:g.52188883GA[9], NC_000019.10:g.52188883GA[11], NC_000019.10:g.52188883GA[12], NC_000019.10:g.52188883GA[13], NC_000019.9:g.52692136GA[6], NC_000019.9:g.52692136GA[7], NC_000019.9:g.52692136GA[8], NC_000019.9:g.52692136GA[9], NC_000019.9:g.52692136GA[11], NC_000019.9:g.52692136GA[12], NC_000019.9:g.52692136GA[13], NG_047068.1:g.4082GA[6], NG_047068.1:g.4082GA[7], NG_047068.1:g.4082GA[8], NG_047068.1:g.4082GA[9], NG_047068.1:g.4082GA[11], NG_047068.1:g.4082GA[12], NG_047068.1:g.4082GA[13]

Select item 14914887312.

rs1491488731 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:52188560 (GRCh38)
19:52691813 (GRCh37)
Canonical SPDI:: NC_000019.10:52188559:CA:
Gene:: PPP2R1A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000019.10:g.52188560_52188561del, NC_000019.9:g.52691813_52691814del, NG_047068.1:g.3759_3760del

Select item 14914829913.

rs1491482991 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 19:52210504 (GRCh38)
19:52713758 (GRCh37)
Canonical SPDI:: NC_000019.10:52210504:C:CC
Gene:: PPP2R1A (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000019.10:g.52210505dup, NC_000019.9:g.52713758dup, NG_047068.1:g.25704dup

Select item 14914762224.

rs1491476222 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 19:52210505 (GRCh38)
19:52713758 (GRCh37)
Canonical SPDI:: NC_000019.10:52210503:TCT:T
Gene:: PPP2R1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000253/3 (ALFA)
-=0.000231/31 (GnomAD)
HGVS:: NC_000019.10:g.52210505_52210506del, NC_000019.9:g.52713758_52713759del, NG_047068.1:g.25704_25705del

Select item 14909986295.

rs1490998629 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:52189263 (GRCh38)
19:52692516 (GRCh37)
Canonical SPDI:: NC_000019.10:52189262:C:G
Gene:: PPP2R1A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.52189263C>G, NC_000019.9:g.52692516C>G, NG_047068.1:g.4462C>G

Select item 14909924856.

rs1490992485 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:52198540 (GRCh38)
19:52701793 (GRCh37)
Canonical SPDI:: NC_000019.10:52198539:A:G
Gene:: PPP2R1A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.52198540A>G, NC_000019.9:g.52701793A>G, NG_047068.1:g.13739A>G

Select item 14909531787.

rs1490953178 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:52213442 (GRCh38)
19:52716695 (GRCh37)
Canonical SPDI:: NC_000019.10:52213441:G:A
Gene:: PPP2R1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.52213442G>A, NC_000019.9:g.52716695G>A, NG_047068.1:g.28641G>A

Select item 14906449508.

rs1490644950 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:52191101 (GRCh38)
19:52694354 (GRCh37)
Canonical SPDI:: NC_000019.10:52191100:T:G
Gene:: PPP2R1A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.52191101T>G, NC_000019.9:g.52694354T>G, NG_047068.1:g.6300T>G

Select item 14906138259.

rs1490613825 [Homo sapiens]

Variant type:: SNV:
Alleles:: C>G
Chromosome:: no mapping
Canonical SPDI:

Select item 149055746510.

rs1490557465 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:52221607 (GRCh38)
19:52724860 (GRCh37)
Canonical SPDI:: NC_000019.10:52221606:A:C
Gene:: PPP2R1A (Varview), MIR6801 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.52221607A>C, NC_000019.9:g.52724860A>C, NG_047068.1:g.36806A>C

Select item 149050826311.

rs1490508263 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 19:52188097 (GRCh38)
19:52691350 (GRCh37)
Canonical SPDI:: NC_000019.10:52188096:G:A,NC_000019.10:52188096:G:C,NC_000019.10:52188096:G:T
Gene:: PPP2R1A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.52188097G>A, NC_000019.10:g.52188097G>C, NC_000019.10:g.52188097G>T, NC_000019.9:g.52691350G>A, NC_000019.9:g.52691350G>C, NC_000019.9:g.52691350G>T, NG_047068.1:g.3296G>A, NG_047068.1:g.3296G>C, NG_047068.1:g.3296G>T

Select item 149026179812.

rs1490261798 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:52196115 (GRCh38)
19:52699368 (GRCh37)
Canonical SPDI:: NC_000019.10:52196114:G:A
Gene:: PPP2R1A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.52196115G>A, NC_000019.9:g.52699368G>A, NG_047068.1:g.11314G>A

Select item 149012351613.

rs1490123516 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:52222804 (GRCh38)
19:52726057 (GRCh37)
Canonical SPDI:: NC_000019.10:52222803:G:A
Gene:: PPP2R1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.52222804G>A, NC_000019.9:g.52726057G>A, NG_047068.1:g.38003G>A

Select item 149012145314.

rs1490121453 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:52211888 (GRCh38)
19:52715141 (GRCh37)
Canonical SPDI:: NC_000019.10:52211887:C:T
Gene:: PPP2R1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.52211888C>T, NC_000019.9:g.52715141C>T, NG_047068.1:g.27087C>T

Select item 149003597215.

rs1490035972 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:52222001 (GRCh38)
19:52725254 (GRCh37)
Canonical SPDI:: NC_000019.10:52222000:G:T
Gene:: PPP2R1A (Varview), MIR6801 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
HGVS:: NC_000019.10:g.52222001G>T, NC_000019.9:g.52725254G>T, NG_047068.1:g.37200G>T

Select item 149001075916.

rs1490010759 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:52210482 (GRCh38)
19:52713735 (GRCh37)
Canonical SPDI:: NC_000019.10:52210481:T:C
Gene:: PPP2R1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.52210482T>C, NC_000019.9:g.52713735T>C, NG_047068.1:g.25681T>C

Select item 148996326617.

rs1489963266 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:52211303 (GRCh38)
19:52714556 (GRCh37)
Canonical SPDI:: NC_000019.10:52211302:G:A
Gene:: PPP2R1A (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.52211303G>A, NC_000019.9:g.52714556G>A, NG_047068.1:g.26502G>A, NM_014225.6:c.314G>A, NM_014225.5:c.314G>A, NM_001363656.2:c.-224G>A, NM_001363656.1:c.-224G>A, NR_033500.2:n.258G>A, NR_033500.1:n.508G>A, NP_055040.2:p.Arg105Gln

Select item 148990087918.

rs1489900879 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:52189902 (GRCh38)
19:52693155 (GRCh37)
Canonical SPDI:: NC_000019.10:52189901:T:A
Gene:: PPP2R1A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.52189902T>A, NC_000019.9:g.52693155T>A, NG_047068.1:g.5101T>A, NM_014225.5:c.-195T>A, NR_033500.1:n.101T>A

Select item 148981081819.

rs1489810818 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:52203210 (GRCh38)
19:52706463 (GRCh37)
Canonical SPDI:: NC_000019.10:52203209:C:G,NC_000019.10:52203209:C:T
Gene:: PPP2R1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.52203210C>G, NC_000019.10:g.52203210C>T, NC_000019.9:g.52706463C>G, NC_000019.9:g.52706463C>T, NG_047068.1:g.18409C>G, NG_047068.1:g.18409C>T

Select item 148939193020.

rs1489391930 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:52203757 (GRCh38)
19:52707010 (GRCh37)
Canonical SPDI:: NC_000019.10:52203756:G:T
Gene:: PPP2R1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.52203757G>T, NC_000019.9:g.52707010G>T, NG_047068.1:g.18956G>T

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