SNP Links for Gene (Select 128674) - SNP

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Select item 14911240251.

rs1491124025 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: 20:5308203 (GRCh38)
20:5288849 (GRCh37)
Canonical SPDI:: NC_000020.11:5308201:CTC:C
Gene:: PROKR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
-=0.00006/2 (GnomAD)
HGVS:: NC_000020.11:g.5308203_5308204del, NC_000020.10:g.5288849_5288850del, NG_008132.2:g.11167_11168del

Select item 14910713402.

rs1491071340 has merged into rs1555789262 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGCGCGCGCG>-,CG,CGCG,CGCGCG,CGCGCGCG,CGCGCGCGCGCG,CGCGCGCGCGCGCG,CGCGCGCGCGCGCGCG,CGCGCGCGCGCGCGCGCG,CGCGCGCGCGCGCGCGCGCG,CGCGCGCGCGCGCGCGCGCGCG [Show Flanks]
Chromosome:: 20:5298415 (GRCh38)
20:5279061 (GRCh37)
Canonical SPDI:: NC_000020.11:5298413:GCGCGCGCGCG:G,NC_000020.11:5298413:GCGCGCGCGCG:GCG,NC_000020.11:5298413:GCGCGCGCGCG:GCGCG,NC_000020.11:5298413:GCGCGCGCGCG:GCGCGCG,NC_000020.11:5298413:GCGCGCGCGCG:GCGCGCGCG,NC_000020.11:5298413:GCGCGCGCGCG:GCGCGCGCGCGCG,NC_000020.11:5298413:GCGCGCGCGCG:GCGCGCGCGCGCGCG,NC_000020.11:5298413:GCGCGCGCGCG:GCGCGCGCGCGCGCGCG,NC_000020.11:5298413:GCGCGCGCGCG:GCGCGCGCGCGCGCGCGCG,NC_000020.11:5298413:GCGCGCGCGCG:GCGCGCGCGCGCGCGCGCGCG,NC_000020.11:5298413:GCGCGCGCGCG:GCGCGCGCGCGCGCGCGCGCGCG
Validated:: by frequency,by alfa,by cluster
MAF:: GCG=0./0 (ALFA)
GC=0.03092/35 (Korea1K)
GC=0.03382/955 (TOMMO)
HGVS:: NC_000020.11:g.5298415_5298424del, NC_000020.11:g.5298415CG[1], NC_000020.11:g.5298415CG[2], NC_000020.11:g.5298415CG[3], NC_000020.11:g.5298415CG[4], NC_000020.11:g.5298415CG[6], NC_000020.11:g.5298415CG[7], NC_000020.11:g.5298415CG[8], NC_000020.11:g.5298415CG[9], NC_000020.11:g.5298415CG[10], NC_000020.11:g.5298415CG[11], NC_000020.10:g.5279061_5279070del, NC_000020.10:g.5279061CG[1], NC_000020.10:g.5279061CG[2], NC_000020.10:g.5279061CG[3], NC_000020.10:g.5279061CG[4], NC_000020.10:g.5279061CG[6], NC_000020.10:g.5279061CG[7], NC_000020.10:g.5279061CG[8], NC_000020.10:g.5279061CG[9], NC_000020.10:g.5279061CG[10], NC_000020.10:g.5279061CG[11]

Select item 14907198913.

rs1490719891 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:5314713 (GRCh38)
20:5295359 (GRCh37)
Canonical SPDI:: NC_000020.11:5314712:G:C
Gene:: PROKR2 (Varview)
Functional Consequence:: intron_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_000020.11:g.5314713G>C, NC_000020.10:g.5295359G>C, NG_008132.2:g.4657C>G

Select item 14906879444.

rs1490687944 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:5315644 (GRCh38)
20:5296290 (GRCh37)
Canonical SPDI:: NC_000020.11:5315643:A:G
Gene:: PROKR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.5315644A>G, NC_000020.10:g.5296290A>G, NG_008132.2:g.3726T>C

Select item 14904931595.

rs1490493159 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:5300530 (GRCh38)
20:5281176 (GRCh37)
Canonical SPDI:: NC_000020.11:5300529:T:C
Gene:: PROKR2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.5300530T>C, NC_000020.10:g.5281176T>C, NG_008132.2:g.18840A>G, NM_144773.4:c.*1510A>G, XM_017027646.2:c.*1510A>G, XM_017027646.1:c.*1510A>G

Select item 14904368106.

rs1490436810 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAATAAATAAAA [Show Flanks]
Chromosome:: 20:5299447 (GRCh38)
20:5280094 (GRCh37)
Canonical SPDI:: NC_000020.11:5299447:AATAATAAATAAAA:AATAATAAATAAAATAATAAATAAAA
Gene:: PROKR2 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: AATAATAAATAAAATAATAAATAAAA=0./0 (ALFA)
AATAATAAATAA=0.00006/16 (TOPMED)
HGVS:: NC_000020.11:g.5299450_5299461dup, NC_000020.10:g.5280096_5280107dup, NM_144773.4:c.*2581_*2592dup

Select item 14902811437.

rs1490281143 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:5301963 (GRCh38)
20:5282609 (GRCh37)
Canonical SPDI:: NC_000020.11:5301962:C:T
Gene:: PROKR2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.5301963C>T, NC_000020.10:g.5282609C>T, NG_008132.2:g.17407G>A, NM_144773.4:c.*77G>A, NM_144773.3:c.*77G>A, XM_017027646.2:c.*77G>A, XM_017027646.1:c.*77G>A

Select item 14902745268.

rs1490274526 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:5299877 (GRCh38)
20:5280523 (GRCh37)
Canonical SPDI:: NC_000020.11:5299876:G:A
Gene:: PROKR2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000020.11:g.5299877G>A, NC_000020.10:g.5280523G>A, NM_144773.4:c.*2163C>T, XM_017027646.2:c.*2163C>T, XM_017027646.1:c.*2163C>T

Select item 14896243569.

rs1489624356 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:5316464 (GRCh38)
20:5297110 (GRCh37)
Canonical SPDI:: NC_000020.11:5316463:T:C
Gene:: PROKR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000020.11:g.5316464T>C, NC_000020.10:g.5297110T>C, NG_008132.2:g.2906A>G

Select item 148944168110.

rs1489441681 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:5317319 (GRCh38)
20:5297965 (GRCh37)
Canonical SPDI:: NC_000020.11:5317318:C:T
Gene:: PROKR2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000026/7 (TOPMED)
HGVS:: NC_000020.11:g.5317319C>T, NC_000020.10:g.5297965C>T, NG_008132.2:g.2051G>A

Select item 148917145811.

rs1489171458 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:5305203 (GRCh38)
20:5285849 (GRCh37)
Canonical SPDI:: NC_000020.11:5305202:G:A
Gene:: PROKR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.5305203G>A, NC_000020.10:g.5285849G>A, NG_008132.2:g.14167C>T

Select item 148914578712.

rs1489145787 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:5301355 (GRCh38)
20:5282001 (GRCh37)
Canonical SPDI:: NC_000020.11:5301354:C:T
Gene:: PROKR2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000020.11:g.5301355C>T, NC_000020.10:g.5282001C>T, NG_008132.2:g.18015G>A, NM_144773.4:c.*685G>A, NM_144773.3:c.*685G>A, XM_017027646.2:c.*685G>A, XM_017027646.1:c.*685G>A

Select item 148857385313.

rs1488573853 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:5308248 (GRCh38)
20:5288894 (GRCh37)
Canonical SPDI:: NC_000020.11:5308247:A:G
Gene:: PROKR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.5308248A>G, NC_000020.10:g.5288894A>G, NG_008132.2:g.11122T>C

Select item 148846688514.

rs1488466885 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:5313452 (GRCh38)
20:5294098 (GRCh37)
Canonical SPDI:: NC_000020.11:5313451:T:C
Gene:: PROKR2 (Varview)
Functional Consequence:: intron_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_000020.11:g.5313452T>C, NC_000020.10:g.5294098T>C, NG_008132.2:g.5918A>G

Select item 148837945615.

rs1488379456 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 20:5298820 (GRCh38)
20:5279466 (GRCh37)
Canonical SPDI:: NC_000020.11:5298819:A:C,NC_000020.11:5298819:A:G
Gene:: PROKR2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.00004/1 (TOMMO)
HGVS:: NC_000020.11:g.5298820A>C, NC_000020.11:g.5298820A>G, NC_000020.10:g.5279466A>C, NC_000020.10:g.5279466A>G

Select item 148826741316.

rs1488267413 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:5310265 (GRCh38)
20:5290911 (GRCh37)
Canonical SPDI:: NC_000020.11:5310264:T:C
Gene:: PROKR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.5310265T>C, NC_000020.10:g.5290911T>C, NG_008132.2:g.9105A>G

Select item 148791575217.

rs1487915752 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 20:5306482 (GRCh38)
20:5287128 (GRCh37)
Canonical SPDI:: NC_000020.11:5306481:A:G,NC_000020.11:5306481:A:T
Gene:: PROKR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.5306482A>G, NC_000020.11:g.5306482A>T, NC_000020.10:g.5287128A>G, NC_000020.10:g.5287128A>T, NG_008132.2:g.12888T>C, NG_008132.2:g.12888T>A

Select item 148746034318.

rs1487460343 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:5316357 (GRCh38)
20:5297003 (GRCh37)
Canonical SPDI:: NC_000020.11:5316356:C:T
Gene:: PROKR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.5316357C>T, NC_000020.10:g.5297003C>T, NG_008132.2:g.3013G>A

Select item 148741056019.

rs1487410560 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:5305840 (GRCh38)
20:5286486 (GRCh37)
Canonical SPDI:: NC_000020.11:5305839:T:C
Gene:: PROKR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.5305840T>C, NC_000020.10:g.5286486T>C, NG_008132.2:g.13530A>G

Select item 148732053020.

rs1487320530 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 20:5301930 (GRCh38)
20:5282576 (GRCh37)
Canonical SPDI:: NC_000020.11:5301929:G:A,NC_000020.11:5301929:G:C
Gene:: PROKR2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.5301930G>A, NC_000020.11:g.5301930G>C, NC_000020.10:g.5282576G>A, NC_000020.10:g.5282576G>C, NG_008132.2:g.17440C>T, NG_008132.2:g.17440C>G, NM_144773.4:c.*110C>T, NM_144773.4:c.*110C>G, NM_144773.3:c.*110C>T, NM_144773.3:c.*110C>G, XM_017027646.2:c.*110C>T, XM_017027646.2:c.*110C>G, XM_017027646.1:c.*110C>T, XM_017027646.1:c.*110C>G

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