SNP Links for Gene (Select 729233) - SNP

Links from Gene

Items: 1 to 20 of 273

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Select item 14915186741.

rs1491518674 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,G,T [Show Flanks]
Chromosome:: 13:57146293 (GRCh38)
13:57720428 (GRCh37)
Canonical SPDI:: NC_000013.11:57146293::A,NC_000013.11:57146293::G,NC_000013.11:57146293::T
Gene:: PRR20B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00155/14 (TOMMO)
HGVS:: NC_000013.11:g.57146293_57146294insA, NC_000013.11:g.57146293_57146294insG, NC_000013.11:g.57146293_57146294insT, NC_000013.10:g.57720427_57720428insA, NC_000013.10:g.57720427_57720428insG, NC_000013.10:g.57720427_57720428insT

Select item 14907201292.

rs1490720129 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:57147915 (GRCh38)
13:57722049 (GRCh37)
Canonical SPDI:: NC_000013.11:57147914:C:T
Gene:: PRR20B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00803/131 (ALFA)
T=0.00319/297 (GnomAD)
T=0.0039/25 (1000Genomes)
HGVS:: NC_000013.11:g.57147915C>T, NC_000013.10:g.57722049C>T, NM_001130404.1:c.41C>T, NP_001123876.1:p.Ala14Val

Select item 14848361753.

rs1484836175 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:57148943 (GRCh38)
13:57723077 (GRCh37)
Canonical SPDI:: NC_000013.11:57148942:T:C
Gene:: PRR20B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.00008/1 (ALFA)
HGVS:: NC_000013.11:g.57148943T>C, NC_000013.10:g.57723077T>C

Select item 14844053794.

rs1484405379 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:57147917 (GRCh38)
13:57722051 (GRCh37)
Canonical SPDI:: NC_000013.11:57147916:C:T
Gene:: PRR20B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000013.11:g.57147917C>T, NC_000013.10:g.57722051C>T, NM_001130404.1:c.43C>T, NP_001123876.1:p.Pro15Ser

Select item 14832968155.

rs1483296815 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 13:57145910 (GRCh38)
13:57720044 (GRCh37)
Canonical SPDI:: NC_000013.11:57145909:T:G
Gene:: PRR20B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00002/1 (GnomAD)
HGVS:: NC_000013.11:g.57145910T>G, NC_000013.10:g.57720044T>G

Select item 14832228156.

rs1483222815 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 13:57148300 (GRCh38)
13:57722434 (GRCh37)
Canonical SPDI:: NC_000013.11:57148299:G:A,NC_000013.11:57148299:G:C
Gene:: PRR20B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000066/1 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
C=0.00006/1 (TOMMO)
C=0.000312/2 (1000Genomes)
HGVS:: NC_000013.11:g.57148300G>A, NC_000013.11:g.57148300G>C, NC_000013.10:g.57722434G>A, NC_000013.10:g.57722434G>C

Select item 14823173767.

rs1482317376 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 13:57148154 (GRCh38)
13:57722288 (GRCh37)
Canonical SPDI:: NC_000013.11:57148153:T:C,NC_000013.11:57148153:T:G
Gene:: PRR20B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.001163/19 (ALFA)
G=0.000167/23 (GnomAD)
HGVS:: NC_000013.11:g.57148154T>C, NC_000013.11:g.57148154T>G, NC_000013.10:g.57722288T>C, NC_000013.10:g.57722288T>G

Select item 14792490508.

rs1479249050 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 13:57146377 (GRCh38)
13:57720511 (GRCh37)
Canonical SPDI:: NC_000013.11:57146376:G:C
Gene:: PRR20B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.00002/1 (GnomAD)
HGVS:: NC_000013.11:g.57146377G>C, NC_000013.10:g.57720511G>C

Select item 14785121659.

rs1478512165 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:57146354 (GRCh38)
13:57720488 (GRCh37)
Canonical SPDI:: NC_000013.11:57146353:C:T
Gene:: PRR20B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.57146354C>T, NC_000013.10:g.57720488C>T

Select item 147314153410.

rs1473141534 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:57148075 (GRCh38)
13:57722209 (GRCh37)
Canonical SPDI:: NC_000013.11:57148074:C:T
Gene:: PRR20B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000013.11:g.57148075C>T, NC_000013.10:g.57722209C>T

Select item 147183153211.

rs1471831532 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:57145953 (GRCh38)
13:57720087 (GRCh37)
Canonical SPDI:: NC_000013.11:57145952:G:A
Gene:: PRR20B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00185/22 (ALFA)
A=0.00553/286 (GnomAD)
HGVS:: NC_000013.11:g.57145953G>A, NC_000013.10:g.57720087G>A

Select item 147032215512.

rs1470322155 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 13:57148580 (GRCh38)
13:57722714 (GRCh37)
Canonical SPDI:: NC_000013.11:57148579:AT:
Gene:: PRR20B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.0002/1 (ALFA)
HGVS:: NC_000013.11:g.57148580_57148581del, NC_000013.10:g.57722714_57722715del

Select item 146989750313.

rs1469897503 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 13:57145994 (GRCh38)
13:57720128 (GRCh37)
Canonical SPDI:: NC_000013.11:57145993:T:G
Gene:: PRR20B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00031/2 (1000Genomes)
HGVS:: NC_000013.11:g.57145994T>G, NC_000013.10:g.57720128T>G

Select item 146598469014.

rs1465984690 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:57148466 (GRCh38)
13:57722600 (GRCh37)
Canonical SPDI:: NC_000013.11:57148465:T:C
Gene:: PRR20B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000084/1 (ALFA)
C=0.000211/29 (GnomAD)
C=0.000781/5 (1000Genomes)
HGVS:: NC_000013.11:g.57148466T>C, NC_000013.10:g.57722600T>C

Select item 146455447315.

rs1464554473 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 13:57146284 (GRCh38)
13:57720418 (GRCh37)
Canonical SPDI:: NC_000013.11:57146283:C:G
Gene:: PRR20B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00006/1 (GnomAD)
HGVS:: NC_000013.11:g.57146284C>G, NC_000013.10:g.57720418C>G

Select item 146448573116.

rs1464485731 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 13:57148356 (GRCh38)
13:57722490 (GRCh37)
Canonical SPDI:: NC_000013.11:57148355:G:C
Gene:: PRR20B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000084/1 (ALFA)
C=0.00005/7 (GnomAD)
HGVS:: NC_000013.11:g.57148356G>C, NC_000013.10:g.57722490G>C

Select item 146420155917.

rs1464201559 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 13:57146129 (GRCh38)
13:57720263 (GRCh37)
Canonical SPDI:: NC_000013.11:57146128:G:A,NC_000013.11:57146128:G:C
Gene:: PRR20B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000013.11:g.57146129G>A, NC_000013.11:g.57146129G>C, NC_000013.10:g.57720263G>A, NC_000013.10:g.57720263G>C

Select item 146143315218.

rs1461433152 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 13:57148312 (GRCh38)
13:57722446 (GRCh37)
Canonical SPDI:: NC_000013.11:57148311:A:T
Gene:: PRR20B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000337/4 (ALFA)
T=0.000415/58 (GnomAD)
T=0.000937/6 (1000Genomes)
HGVS:: NC_000013.11:g.57148312A>T, NC_000013.10:g.57722446A>T

Select item 145554531119.

rs1455545311 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:57148648 (GRCh38)
13:57722782 (GRCh37)
Canonical SPDI:: NC_000013.11:57148647:A:G
Gene:: PRR20B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.001653/27 (ALFA)
G=0.001535/194 (GnomAD)
G=0.005153/33 (1000Genomes)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000013.11:g.57148648A>G, NC_000013.10:g.57722782A>G

Select item 145514741020.

rs1455147410 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 13:57146397 (GRCh38)
13:57720531 (GRCh37)
Canonical SPDI:: NC_000013.11:57146396:C:A,NC_000013.11:57146396:C:T
Gene:: PRR20B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00004/2 (GnomAD)
HGVS:: NC_000013.11:g.57146397C>A, NC_000013.11:g.57146397C>T, NC_000013.10:g.57720531C>A, NC_000013.10:g.57720531C>T

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