SNP Links for Gene (Select 360205) - SNP

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Select item 14912464721.

rs1491246472 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 17:48719211 (GRCh38)
17:46796574 (GRCh37)
Canonical SPDI:: NC_000017.11:48719211::C
Gene:: PRAC2 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.00047/46 (GnomAD)
HGVS:: NC_000017.11:g.48719211_48719212insC, NC_000017.10:g.46796573_46796574insC

Select item 14911727062.

rs1491172706 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 17:48719212 (GRCh38)
17:46796574 (GRCh37)
Canonical SPDI:: NC_000017.11:48719210:AAA:A
Gene:: PRAC2 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00143/17 (ALFA)
-=0.00039/6 (TOMMO)
-=0.00279/276 (GnomAD)
HGVS:: NC_000017.11:g.48719212_48719213del, NC_000017.10:g.46796574_46796575del

Select item 14899462423.

rs1489946242 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:48724041 (GRCh38)
17:46801403 (GRCh37)
Canonical SPDI:: NC_000017.11:48724040:G:T
Gene:: PRAC1 (Varview), PRAC2 (Varview), MIR3185 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.48724041G>T, NC_000017.10:g.46801403G>T, NG_033789.1:g.9709C>A

Select item 14897199184.

rs1489719918 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:48719251 (GRCh38)
17:46796613 (GRCh37)
Canonical SPDI:: NC_000017.11:48719250:G:A
Gene:: PRAC2 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.00039/7 (TOMMO)
HGVS:: NC_000017.11:g.48719251G>A, NC_000017.10:g.46796613G>A

Select item 14894274875.

rs1489427487 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 17:48719499 (GRCh38)
17:46796861 (GRCh37)
Canonical SPDI:: NC_000017.11:48719498:C:A,NC_000017.11:48719498:C:G,NC_000017.11:48719498:C:T
Gene:: PRAC2 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.48719499C>A, NC_000017.11:g.48719499C>G, NC_000017.11:g.48719499C>T, NC_000017.10:g.46796861C>A, NC_000017.10:g.46796861C>G, NC_000017.10:g.46796861C>T

Select item 14894160916.

rs1489416091 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:48718903 (GRCh38)
17:46796265 (GRCh37)
Canonical SPDI:: NC_000017.11:48718902:C:T
Gene:: PRAC2 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.48718903C>T, NC_000017.10:g.46796265C>T

Select item 14893926267.

rs1489392626 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 17:48720233 (GRCh38)
17:46797595 (GRCh37)
Canonical SPDI:: NC_000017.11:48720232:C:A,NC_000017.11:48720232:C:G
Gene:: PRAC2 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
G=0.001369/4 (KOREAN)
HGVS:: NC_000017.11:g.48720233C>A, NC_000017.11:g.48720233C>G, NC_000017.10:g.46797595C>A, NC_000017.10:g.46797595C>G

Select item 14890869228.

rs1489086922 [Homo sapiens]

Variant type:: DELINS
Alleles:: AACACACACACA>- [Show Flanks]
Chromosome:: 17:48719212 (GRCh38)
17:46796574 (GRCh37)
Canonical SPDI:: NC_000017.11:48719205:CACACAAACACACACACA:CACACA
Gene:: PRAC2 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACA=0./0 (ALFA)
-=0.000019/2 (GnomAD)
-=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.48719212_48719223del, NC_000017.10:g.46796574_46796585del

Select item 14889278969.

rs1488927896 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:48720841 (GRCh38)
17:46798203 (GRCh37)
Canonical SPDI:: NC_000017.11:48720840:C:T
Gene:: PRAC2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
T=0.005/3 (NorthernSweden)
HGVS:: NC_000017.11:g.48720841C>T, NC_000017.10:g.46798203C>T, XM_011524747.2:c.-116C>T, XM_011524747.1:c.-116C>T

Select item 148875167310.

rs1488751673 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:48718880 (GRCh38)
17:46796242 (GRCh37)
Canonical SPDI:: NC_000017.11:48718879:C:T
Gene:: PRAC2 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.48718880C>T, NC_000017.10:g.46796242C>T

Select item 148845633611.

rs1488456336 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAA>- [Show Flanks]
Chromosome:: 17:48721939 (GRCh38)
17:46799301 (GRCh37)
Canonical SPDI:: NC_000017.11:48721930:AATAATAATAA:AATAATAA
Gene:: PRAC1 (Varview), PRAC2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AATAATAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000025/3 (GnomAD_exomes)
HGVS:: NC_000017.11:g.48721933TAA[2], NC_000017.10:g.46799295TAA[2]

Select item 148819415712.

rs1488194157 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:48723608 (GRCh38)
17:46800970 (GRCh37)
Canonical SPDI:: NC_000017.11:48723607:T:C
Gene:: PRAC1 (Varview), PRAC2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.48723608T>C, NC_000017.10:g.46800970T>C, NG_033789.1:g.10142A>G

Select item 148805850513.

rs1488058505 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 17:48720526 (GRCh38)
17:46797888 (GRCh37)
Canonical SPDI:: NC_000017.11:48720525:A:G,NC_000017.11:48720525:A:T
Gene:: PRAC2 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.48720526A>G, NC_000017.11:g.48720526A>T, NC_000017.10:g.46797888A>G, NC_000017.10:g.46797888A>T

Select item 148778072314.

rs1487780723 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:48723216 (GRCh38)
17:46800578 (GRCh37)
Canonical SPDI:: NC_000017.11:48723215:T:G
Gene:: PRAC1 (Varview), PRAC2 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.48723216T>G, NC_000017.10:g.46800578T>G, NG_033789.1:g.10534A>C, NM_001282275.2:c.-181T>G, NM_001282275.1:c.-181T>G, NR_024103.1:n.37T>G

Select item 148775546715.

rs1487755467 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:48721463 (GRCh38)
17:46798825 (GRCh37)
Canonical SPDI:: NC_000017.11:48721462:T:C
Gene:: PRAC1 (Varview), PRAC2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.48721463T>C, NC_000017.10:g.46798825T>C

Select item 148759240816.

rs1487592408 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:48719763 (GRCh38)
17:46797125 (GRCh37)
Canonical SPDI:: NC_000017.11:48719762:G:T
Gene:: PRAC2 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.48719763G>T, NC_000017.10:g.46797125G>T

Select item 148747093317.

rs1487470933 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 17:48724491 (GRCh38)
17:46801853 (GRCh37)
Canonical SPDI:: NC_000017.11:48724490:G:
Gene:: HOXB13 (Varview), PRAC1 (Varview), PRAC2 (Varview), MIR3185 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.00021/4 (TOMMO)
HGVS:: NC_000017.11:g.48724491del, NC_000017.10:g.46801853del, NG_033789.1:g.9259del, NM_001282275.2:c.81del, NM_001282275.1:c.81del, XM_011524747.2:c.81del, XM_011524747.1:c.81del, XM_047435918.1:c.81del, NR_024103.1:n.298del, NM_001282276.1:c.231del, XM_011524748.1:c.81del, NP_001269204.1:p.Asn28fs, XP_011523049.1:p.Asn28fs, XP_047291874.1:p.Asn28fs, NP_001269205.1:p.Asn78fs, XP_011523050.1:p.Asn28fs

Select item 148656305918.

rs1486563059 [Homo sapiens]

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

Select item 148581231619.

rs1485812316 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:48719754 (GRCh38)
17:46797116 (GRCh37)
Canonical SPDI:: NC_000017.11:48719753:T:G
Gene:: PRAC2 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000038/10 (TOPMED)
G=0.000043/6 (GnomAD)
HGVS:: NC_000017.11:g.48719754T>G, NC_000017.10:g.46797116T>G

Select item 148551270520.

rs1485512705 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:48721091 (GRCh38)
17:46798453 (GRCh37)
Canonical SPDI:: NC_000017.11:48721090:C:T
Gene:: PRAC2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.48721091C>T, NC_000017.10:g.46798453C>T

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