SNP Links for Gene (Select 100302193) - SNP

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Select item 14898835321.

rs1489883532 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:101332286 (GRCh38)
4:102253443 (GRCh37)
Canonical SPDI:: NC_000004.12:101332285:G:A
Gene:: PPP3CA (Varview), MIR1255A (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000043/6 (GnomAD)
A=0.000342/1 (KOREAN)
HGVS:: NC_000004.12:g.101332286G>A, NC_000004.11:g.102253443G>A

Select item 14895818462.

rs1489581846 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:101330552 (GRCh38)
4:102251709 (GRCh37)
Canonical SPDI:: NC_000004.12:101330551:A:G
Gene:: PPP3CA (Varview), MIR1255A (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.101330552A>G, NC_000004.11:g.102251709A>G

Select item 14875616633.

rs1487561663 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:101332380 (GRCh38)
4:102253537 (GRCh37)
Canonical SPDI:: NC_000004.12:101332379:T:C
Gene:: PPP3CA (Varview), MIR1255A (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.101332380T>C, NC_000004.11:g.102253537T>C

Select item 14867848314.

rs1486784831 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:101331678 (GRCh38)
4:102252835 (GRCh37)
Canonical SPDI:: NC_000004.12:101331677:A:G
Gene:: PPP3CA (Varview), MIR1255A (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.101331678A>G, NC_000004.11:g.102252835A>G

Select item 14846326665.

rs1484632666 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:101332136 (GRCh38)
4:102253293 (GRCh37)
Canonical SPDI:: NC_000004.12:101332135:A:C
Gene:: PPP3CA (Varview), MIR1255A (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.101332136A>C, NC_000004.11:g.102253293A>C

Select item 14803575286.

rs1480357528 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:101331439 (GRCh38)
4:102252596 (GRCh37)
Canonical SPDI:: NC_000004.12:101331438:G:T
Gene:: PPP3CA (Varview), MIR1255A (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.101331439G>T, NC_000004.11:g.102252596G>T

Select item 14791242027.

rs1479124202 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 4:101331797 (GRCh38)
4:102252954 (GRCh37)
Canonical SPDI:: NC_000004.12:101331796:TA:
Gene:: PPP3CA (Varview), MIR1255A (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000004.12:g.101331797_101331798del, NC_000004.11:g.102252954_102252955del

Select item 14788495008.

rs1478849500 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:101330640 (GRCh38)
4:102251797 (GRCh37)
Canonical SPDI:: NC_000004.12:101330639:T:C
Gene:: PPP3CA (Varview), MIR1255A (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.101330640T>C, NC_000004.11:g.102251797T>C

Select item 14772576639.

rs1477257663 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 4:101330361 (GRCh38)
4:102251518 (GRCh37)
Canonical SPDI:: NC_000004.12:101330360:AAAAAA:AAAAA,NC_000004.12:101330360:AAAAAA:AAAAAAA
Gene:: PPP3CA (Varview), MIR1255A (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000026/7 (TOPMED)
-=0.000546/1 (Korea1K)
HGVS:: NC_000004.12:g.101330366del, NC_000004.12:g.101330366dup, NC_000004.11:g.102251523del, NC_000004.11:g.102251523dup, NR_031656.1:n.54del, NR_031656.1:n.54dup

Select item 147720282310.

rs1477202823 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:101330171 (GRCh38)
4:102251328 (GRCh37)
Canonical SPDI:: NC_000004.12:101330170:A:C
Gene:: PPP3CA (Varview), MIR1255A (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.101330171A>C, NC_000004.11:g.102251328A>C

Select item 147591232111.

rs1475912321 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:101332129 (GRCh38)
4:102253286 (GRCh37)
Canonical SPDI:: NC_000004.12:101332128:G:A
Gene:: PPP3CA (Varview), MIR1255A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.101332129G>A, NC_000004.11:g.102253286G>A

Select item 147557794212.

rs1475577942 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:101331663 (GRCh38)
4:102252820 (GRCh37)
Canonical SPDI:: NC_000004.12:101331662:T:C
Gene:: PPP3CA (Varview), MIR1255A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.101331663T>C, NC_000004.11:g.102252820T>C

Select item 147547441913.

rs1475474419 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:101330307 (GRCh38)
4:102251464 (GRCh37)
Canonical SPDI:: NC_000004.12:101330306:G:A
Gene:: PPP3CA (Varview), MIR1255A (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
HGVS:: NC_000004.12:g.101330307G>A, NC_000004.11:g.102251464G>A, NR_031656.1:n.108C>T

Select item 147421856414.

rs1474218564 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:101332262 (GRCh38)
4:102253419 (GRCh37)
Canonical SPDI:: NC_000004.12:101332261:A:G
Gene:: PPP3CA (Varview), MIR1255A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000004.12:g.101332262A>G, NC_000004.11:g.102253419A>G

Select item 147394683115.

rs1473946831 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 4:101331148 (GRCh38)
4:102252305 (GRCh37)
Canonical SPDI:: NC_000004.12:101331147:T:C,NC_000004.12:101331147:T:G
Gene:: PPP3CA (Varview), MIR1255A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.101331148T>C, NC_000004.12:g.101331148T>G, NC_000004.11:g.102252305T>C, NC_000004.11:g.102252305T>G

Select item 147158146616.

rs1471581466 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:101330014 (GRCh38)
4:102251171 (GRCh37)
Canonical SPDI:: NC_000004.12:101330013:A:G
Gene:: PPP3CA (Varview), MIR1255A (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000004.12:g.101330014A>G, NC_000004.11:g.102251171A>G

Select item 146918899717.

rs1469188997 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:101330825 (GRCh38)
4:102251982 (GRCh37)
Canonical SPDI:: NC_000004.12:101330824:C:T
Gene:: PPP3CA (Varview), MIR1255A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000004.12:g.101330825C>T, NC_000004.11:g.102251982C>T

Select item 146772992218.

rs1467729922 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:101331810 (GRCh38)
4:102252967 (GRCh37)
Canonical SPDI:: NC_000004.12:101331809:G:A
Gene:: PPP3CA (Varview), MIR1255A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.101331810G>A, NC_000004.11:g.102252967G>A

Select item 146733935719.

rs1467339357 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:101330720 (GRCh38)
4:102251877 (GRCh37)
Canonical SPDI:: NC_000004.12:101330719:T:C
Gene:: PPP3CA (Varview), MIR1255A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.101330720T>C, NC_000004.11:g.102251877T>C

Select item 146728974220.

rs1467289742 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 4:101331297 (GRCh38)
4:102252454 (GRCh37)
Canonical SPDI:: NC_000004.12:101331296:T:A,NC_000004.12:101331296:T:C
Gene:: PPP3CA (Varview), MIR1255A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000004.12:g.101331297T>A, NC_000004.12:g.101331297T>C, NC_000004.11:g.102252454T>A, NC_000004.11:g.102252454T>C

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