SNP Links for Nucleotide (Select 584277177) - SNP

Links from Nucleotide

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Select item 14797449311.

rs1479744931 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:50583828 (GRCh38)
22:51022257 (GRCh37)
Canonical SPDI:: NC_000022.11:50583827:C:T
Gene:: CHKB (Varview), CHKB-CPT1B (Varview), CHKB-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.50583828C>T, NC_000022.10:g.51022257C>T, NG_029213.1:g.4172G>A, NR_021492.2:n.529C>T, NR_021492.1:n.529C>T

Select item 14742113932.

rs1474211393 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCAGCT [Show Flanks]
Chromosome:: 22:50583213 (GRCh38)
22:51021643 (GRCh37)
Canonical SPDI:: NC_000022.11:50583213:GCTGCAGCTGCAGCT:GCTGCAGCTGCAGCTGCAGCT
Gene:: CHKB (Varview), CHKB-CPT1B (Varview), CHKB-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCTGCAGCTGCAGCTGCAGCT=0./0 (ALFA)
GCTGCA=0.000026/7 (TOPMED)
GCTGCA=0.000029/4 (GnomAD)
GCTGCA=0.000156/1 (1000Genomes)
HGVS:: NC_000022.11:g.50583217GCAGCT[3], NC_000022.10:g.51021646GCAGCT[3], NG_012643.1:g.443TGCAGC[3], NG_029213.1:g.4775TGCAGC[3], NR_021492.2:n.192GCAGCT[3], NR_021492.1:n.192GCAGCT[3], NR_110536.1:n.192GCAGCT[3]

Select item 14735181513.

rs1473518151 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 22:50583311 (GRCh38)
22:51021740 (GRCh37)
Canonical SPDI:: NC_000022.11:50583310:G:A,NC_000022.11:50583310:G:C
Gene:: CHKB (Varview), CHKB-CPT1B (Varview), CHKB-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.50583311G>A, NC_000022.11:g.50583311G>C, NC_000022.10:g.51021740G>A, NC_000022.10:g.51021740G>C, NG_012643.1:g.357C>T, NG_012643.1:g.357C>G, NG_029213.1:g.4689C>T, NG_029213.1:g.4689C>G, NR_021492.2:n.286G>A, NR_021492.2:n.286G>C, NR_021492.1:n.286G>A, NR_021492.1:n.286G>C, NR_110536.1:n.286G>A, NR_110536.1:n.286G>C

Select item 14723161194.

rs1472316119 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGTA>- [Show Flanks]
Chromosome:: 22:50583831 (GRCh38)
22:51022260 (GRCh37)
Canonical SPDI:: NC_000022.11:50583828:TAGAGTA:TA
Gene:: CHKB (Varview), CHKB-CPT1B (Varview), CHKB-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.50583831_50583835del, NC_000022.10:g.51022260_51022264del, NG_029213.1:g.4167_4171del, NR_021492.2:n.532_536del, NR_021492.1:n.532_536del

Select item 14631150125.

rs1463115012 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:50583159 (GRCh38)
22:51021588 (GRCh37)
Canonical SPDI:: NC_000022.11:50583158:C:G
Gene:: CHKB (Varview), CHKB-CPT1B (Varview), CHKB-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000022.11:g.50583159C>G, NC_000022.10:g.51021588C>G, NG_012643.1:g.509G>C, NG_029213.1:g.4841G>C, NR_021492.2:n.134C>G, NR_021492.1:n.134C>G, NR_110536.1:n.134C>G

Select item 14612357886.

rs1461235788 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 22:50583613 (GRCh38)
22:51022042 (GRCh37)
Canonical SPDI:: NC_000022.11:50583611:ACA:A
Gene:: CHKB (Varview), CHKB-CPT1B (Varview), CHKB-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000022.11:g.50583613_50583614del, NC_000022.10:g.51022042_51022043del, NG_012643.1:g.55_56del, NG_029213.1:g.4387_4388del, NR_021492.2:n.314_315del, NR_021492.1:n.314_315del

Select item 14604338157.

rs1460433815 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 22:50583232 (GRCh38)
22:51021661 (GRCh37)
Canonical SPDI:: NC_000022.11:50583231:G:T
Gene:: CHKB (Varview), CHKB-CPT1B (Varview), CHKB-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_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_000022.11:g.50583232G>T, NC_000022.10:g.51021661G>T, NG_012643.1:g.436C>A, NG_029213.1:g.4768C>A, NR_021492.2:n.207G>T, NR_021492.1:n.207G>T, NR_110536.1:n.207G>T

Select item 14557703268.

rs1455770326 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 22:50583212 (GRCh38)
22:51021641 (GRCh37)
Canonical SPDI:: NC_000022.11:50583211:C:G,NC_000022.11:50583211:C:T
Gene:: CHKB (Varview), CHKB-CPT1B (Varview), CHKB-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.50583212C>G, NC_000022.11:g.50583212C>T, NC_000022.10:g.51021641C>G, NC_000022.10:g.51021641C>T, NG_012643.1:g.456G>C, NG_012643.1:g.456G>A, NG_029213.1:g.4788G>C, NG_029213.1:g.4788G>A, NR_021492.2:n.187C>G, NR_021492.2:n.187C>T, NR_021492.1:n.187C>G, NR_021492.1:n.187C>T, NR_110536.1:n.187C>G, NR_110536.1:n.187C>T

Select item 14489363369.

rs1448936336 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 22:50583765 (GRCh38)
22:51022195 (GRCh37)
Canonical SPDI:: NC_000022.11:50583765::T
Gene:: CHKB (Varview), CHKB-CPT1B (Varview), CHKB-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.50583765_50583766insT, NC_000022.10:g.51022194_51022195insT, NG_029213.1:g.4234_4235insA, NR_021492.2:n.466_467insT, NR_021492.1:n.466_467insT

Select item 144307385910.

rs1443073859 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 22:50583120 (GRCh38)
22:51021549 (GRCh37)
Canonical SPDI:: NC_000022.11:50583119:G:A,NC_000022.11:50583119:G:T
Gene:: CHKB (Varview), CHKB-CPT1B (Varview), CHKB-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000022.11:g.50583120G>A, NC_000022.11:g.50583120G>T, NC_000022.10:g.51021549G>A, NC_000022.10:g.51021549G>T, NG_012643.1:g.548C>T, NG_012643.1:g.548C>A, NG_029213.1:g.4880C>T, NG_029213.1:g.4880C>A, NR_021492.2:n.95G>A, NR_021492.2:n.95G>T, NR_021492.1:n.95G>A, NR_021492.1:n.95G>T, NR_110536.1:n.95G>A, NR_110536.1:n.95G>T

Select item 143596510811.

rs1435965108 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:50583235 (GRCh38)
22:51021664 (GRCh37)
Canonical SPDI:: NC_000022.11:50583234:C:T
Gene:: CHKB (Varview), CHKB-CPT1B (Varview), CHKB-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000022.11:g.50583235C>T, NC_000022.10:g.51021664C>T, NG_012643.1:g.433G>A, NG_029213.1:g.4765G>A, NR_021492.2:n.210C>T, NR_021492.1:n.210C>T, NR_110536.1:n.210C>T

Select item 143245396212.

rs1432453962 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:50583037 (GRCh38)
22:51021466 (GRCh37)
Canonical SPDI:: NC_000022.11:50583036:C:T
Gene:: CHKB (Varview), CHKB-CPT1B (Varview), CHKB-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.50583037C>T, NC_000022.10:g.51021466C>T, NG_012643.1:g.631G>A, NG_029213.1:g.4963G>A, NR_021492.2:n.12C>T, NR_021492.1:n.12C>T, NR_110536.1:n.12C>T

Select item 143183813613.

rs1431838136 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 22:50583696 (GRCh38)
22:51022125 (GRCh37)
Canonical SPDI:: NC_000022.11:50583695:G:A,NC_000022.11:50583695:G:C
Gene:: CHKB (Varview), CHKB-CPT1B (Varview), CHKB-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000022.11:g.50583696G>A, NC_000022.11:g.50583696G>C, NC_000022.10:g.51022125G>A, NC_000022.10:g.51022125G>C, NG_029213.1:g.4304C>T, NG_029213.1:g.4304C>G, NR_021492.2:n.397G>A, NR_021492.2:n.397G>C, NR_021492.1:n.397G>A, NR_021492.1:n.397G>C

Select item 143058728214.

rs1430587282 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 22:50583874 (GRCh38)
22:51022303 (GRCh37)
Canonical SPDI:: NC_000022.11:50583873:A:C,NC_000022.11:50583873:A:G
Gene:: CHKB (Varview), CHKB-CPT1B (Varview), CHKB-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00333/2 (NorthernSweden)
HGVS:: NC_000022.11:g.50583874A>C, NC_000022.11:g.50583874A>G, NC_000022.10:g.51022303A>C, NC_000022.10:g.51022303A>G, NG_029213.1:g.4126T>G, NG_029213.1:g.4126T>C, NR_021492.2:n.575A>C, NR_021492.2:n.575A>G, NR_021492.1:n.575A>C, NR_021492.1:n.575A>G

Select item 142913925215.

rs1429139252 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 22:50583169 (GRCh38)
22:51021598 (GRCh37)
Canonical SPDI:: NC_000022.11:50583168:G:A,NC_000022.11:50583168:G:C,NC_000022.11:50583168:G:T
Gene:: CHKB (Varview), CHKB-CPT1B (Varview), CHKB-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000022.11:g.50583169G>A, NC_000022.11:g.50583169G>C, NC_000022.11:g.50583169G>T, NC_000022.10:g.51021598G>A, NC_000022.10:g.51021598G>C, NC_000022.10:g.51021598G>T, NG_012643.1:g.499C>T, NG_012643.1:g.499C>G, NG_012643.1:g.499C>A, NG_029213.1:g.4831C>T, NG_029213.1:g.4831C>G, NG_029213.1:g.4831C>A, NR_021492.2:n.144G>A, NR_021492.2:n.144G>C, NR_021492.2:n.144G>T, NR_021492.1:n.144G>A, NR_021492.1:n.144G>C, NR_021492.1:n.144G>T, NR_110536.1:n.144G>A, NR_110536.1:n.144G>C, NR_110536.1:n.144G>T

Select item 142696450716.

rs1426964507 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:50583173 (GRCh38)
22:51021602 (GRCh37)
Canonical SPDI:: NC_000022.11:50583172:C:T
Gene:: CHKB (Varview), CHKB-CPT1B (Varview), CHKB-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000029/4 (GnomAD)
T=0.000038/10 (TOPMED)
HGVS:: NC_000022.11:g.50583173C>T, NC_000022.10:g.51021602C>T, NG_012643.1:g.495G>A, NG_029213.1:g.4827G>A, NR_021492.2:n.148C>T, NR_021492.1:n.148C>T, NR_110536.1:n.148C>T

Select item 141629633017.

rs1416296330 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 22:50583137 (GRCh38)
22:51021566 (GRCh37)
Canonical SPDI:: NC_000022.11:50583136:G:C,NC_000022.11:50583136:G:T
Gene:: CHKB (Varview), CHKB-CPT1B (Varview), CHKB-DT (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000022.11:g.50583137G>C, NC_000022.11:g.50583137G>T, NC_000022.10:g.51021566G>C, NC_000022.10:g.51021566G>T, NG_012643.1:g.531C>G, NG_012643.1:g.531C>A, NG_029213.1:g.4863C>G, NG_029213.1:g.4863C>A, NR_021492.2:n.112G>C, NR_021492.2:n.112G>T, NR_021492.1:n.112G>C, NR_021492.1:n.112G>T, NR_110536.1:n.112G>C, NR_110536.1:n.112G>T

Select item 141034160318.

rs1410341603 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 22:50583854 (GRCh38)
22:51022283 (GRCh37)
Canonical SPDI:: NC_000022.11:50583853:G:T
Gene:: CHKB (Varview), CHKB-CPT1B (Varview), CHKB-DT (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000022.11:g.50583854G>T, NC_000022.10:g.51022283G>T, NG_029213.1:g.4146C>A, NR_021492.2:n.555G>T, NR_021492.1:n.555G>T

Select item 141016286819.

rs1410162868 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:50583805 (GRCh38)
22:51022234 (GRCh37)
Canonical SPDI:: NC_000022.11:50583804:A:G
Gene:: CHKB (Varview), CHKB-CPT1B (Varview), CHKB-DT (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,non_coding_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_000022.11:g.50583805A>G, NC_000022.10:g.51022234A>G, NG_029213.1:g.4195T>C, NR_021492.2:n.506A>G, NR_021492.1:n.506A>G

Select item 140875685320.

rs1408756853 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 22:50583318 (GRCh38)
22:51021747 (GRCh37)
Canonical SPDI:: NC_000022.11:50583317:G:T
Gene:: CHKB (Varview), CHKB-CPT1B (Varview), CHKB-DT (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.50583318G>T, NC_000022.10:g.51021747G>T, NG_012643.1:g.350C>A, NG_029213.1:g.4682C>A, NR_021492.2:n.293G>T, NR_021492.1:n.293G>T, NR_110536.1:n.293G>T

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