SNP Links for Gene (Select 100131347) - SNP

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Select item 14915845641.

rs1491584564 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 17:39060492 (GRCh38)
17:37216745 (GRCh37)
Canonical SPDI:: NC_000017.11:39060489:TGTG:TG
Gene:: RDM1P5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGTG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.39060490TG[1], NC_000017.10:g.37216743TG[1]

Select item 14914974212.

rs1491497421 has merged into rs202177896 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:39057284 (GRCh38)
17:37213537 (GRCh37)
Canonical SPDI:: NC_000017.11:39057272:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:39057272:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:39057272:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:39057272:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:39057272:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:39057272:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:39057272:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:39057272:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:39057272:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:39057272:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:39057272:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:39057272:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:39057272:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:39057272:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:39057272:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:39057272:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:39057272:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:39057272:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:39057272:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:39057272:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:39057272:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:39057272:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:39057272:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RDM1P5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000017.11:g.39057284_39057296del, NC_000017.11:g.39057286_39057296del, NC_000017.11:g.39057287_39057296del, NC_000017.11:g.39057288_39057296del, NC_000017.11:g.39057289_39057296del, NC_000017.11:g.39057290_39057296del, NC_000017.11:g.39057291_39057296del, NC_000017.11:g.39057292_39057296del, NC_000017.11:g.39057293_39057296del, NC_000017.11:g.39057294_39057296del, NC_000017.11:g.39057295_39057296del, NC_000017.11:g.39057296del, NC_000017.11:g.39057296dup, NC_000017.11:g.39057295_39057296dup, NC_000017.11:g.39057294_39057296dup, NC_000017.11:g.39057293_39057296dup, NC_000017.11:g.39057292_39057296dup, NC_000017.11:g.39057291_39057296dup, NC_000017.11:g.39057290_39057296dup, NC_000017.11:g.39057289_39057296dup, NC_000017.11:g.39057288_39057296dup, NC_000017.11:g.39057287_39057296dup, NC_000017.11:g.39057286_39057296dup, NC_000017.10:g.37213537_37213549del, NC_000017.10:g.37213539_37213549del, NC_000017.10:g.37213540_37213549del, NC_000017.10:g.37213541_37213549del, NC_000017.10:g.37213542_37213549del, NC_000017.10:g.37213543_37213549del, NC_000017.10:g.37213544_37213549del, NC_000017.10:g.37213545_37213549del, NC_000017.10:g.37213546_37213549del, NC_000017.10:g.37213547_37213549del, NC_000017.10:g.37213548_37213549del, NC_000017.10:g.37213549del, NC_000017.10:g.37213549dup, NC_000017.10:g.37213548_37213549dup, NC_000017.10:g.37213547_37213549dup, NC_000017.10:g.37213546_37213549dup, NC_000017.10:g.37213545_37213549dup, NC_000017.10:g.37213544_37213549dup, NC_000017.10:g.37213543_37213549dup, NC_000017.10:g.37213542_37213549dup, NC_000017.10:g.37213541_37213549dup, NC_000017.10:g.37213540_37213549dup, NC_000017.10:g.37213539_37213549dup

Select item 14911966783.

rs1491196678 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 17:39076091 (GRCh38)
17:37232344 (GRCh37)
Canonical SPDI:: NC_000017.11:39076089:AGA:A
Gene:: PLXDC1 (Varview), RDM1P5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.12072/1432 (ALFA)
-=0.20415/757 (TWINSUK)
-=0.21432/826 (ALSPAC)
HGVS:: NC_000017.11:g.39076091_39076092del, NC_000017.10:g.37232344_37232345del

Select item 14910248554.

rs1491024855 has merged into rs5820274 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 17:39081638 (GRCh38)
17:37237891 (GRCh37)
Canonical SPDI:: NC_000017.11:39081626:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:39081626:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:39081626:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:39081626:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:39081626:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: PLXDC1 (Varview), RDM1P5 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
A=0./0 (ALSPAC)
A=0./0 (TWINSUK)
A=0.0569/285 (1000Genomes)
A=0.0597/35 (NorthernSweden)
A=0.125/5 (GENOME_DK)
HGVS:: NC_000017.11:g.39081638_39081640del, NC_000017.11:g.39081639_39081640del, NC_000017.11:g.39081640del, NC_000017.11:g.39081640dup, NC_000017.11:g.39081634_39081640dup, NC_000017.10:g.37237891_37237893del, NC_000017.10:g.37237892_37237893del, NC_000017.10:g.37237893del, NC_000017.10:g.37237893dup, NC_000017.10:g.37237887_37237893dup

Select item 14909427655.

rs1490942765 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:39081330 (GRCh38)
17:37237583 (GRCh37)
Canonical SPDI:: NC_000017.11:39081329:T:C
Gene:: PLXDC1 (Varview), RDM1P5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,non_coding_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)
HGVS:: NC_000017.11:g.39081330T>C, NC_000017.10:g.37237583T>C, NR_036551.2:n.2184T>C, NR_036551.1:n.2184T>C

Select item 14909118806.

rs1490911880 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:39080187 (GRCh38)
17:37236440 (GRCh37)
Canonical SPDI:: NC_000017.11:39080186:G:C
Gene:: PLXDC1 (Varview), RDM1P5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_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)
HGVS:: NC_000017.11:g.39080187G>C, NC_000017.10:g.37236440G>C, NR_036551.2:n.1041G>C, NR_036551.1:n.1041G>C

Select item 14908520317.

rs1490852031 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:39072399 (GRCh38)
17:37228652 (GRCh37)
Canonical SPDI:: NC_000017.11:39072398:G:A
Gene:: PLXDC1 (Varview), RDM1P5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.39072399G>A, NC_000017.10:g.37228652G>A

Select item 14908432488.

rs1490843248 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:39063267 (GRCh38)
17:37219520 (GRCh37)
Canonical SPDI:: NC_000017.11:39063266:C:T
Gene:: PLXDC1 (Varview), RDM1P5 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.39063267C>T, NC_000017.10:g.37219520C>T

Select item 14908347299.

rs1490834729 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:39071266 (GRCh38)
17:37227519 (GRCh37)
Canonical SPDI:: NC_000017.11:39071265:G:A
Gene:: PLXDC1 (Varview), RDM1P5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.39071266G>A, NC_000017.10:g.37227519G>A

Select item 149081115810.

rs1490811158 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 17:39072546 (GRCh38)
17:37228799 (GRCh37)
Canonical SPDI:: NC_000017.11:39072545:TG:
Gene:: PLXDC1 (Varview), RDM1P5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.39072546_39072547del, NC_000017.10:g.37228799_37228800del, NR_036551.2:n.346_347del, NR_036551.1:n.346_347del, NR_174975.1:n.346_347del

Select item 149047510911.

rs1490475109 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:39075504 (GRCh38)
17:37231757 (GRCh37)
Canonical SPDI:: NC_000017.11:39075503:C:T
Gene:: PLXDC1 (Varview), RDM1P5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.39075504C>T, NC_000017.10:g.37231757C>T

Select item 149045191012.

rs1490451910 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:39081671 (GRCh38)
17:37237924 (GRCh37)
Canonical SPDI:: NC_000017.11:39081670:A:G
Gene:: PLXDC1 (Varview), RDM1P5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.39081671A>G, NC_000017.10:g.37237924A>G

Select item 149044950913.

rs1490449509 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 17:39072671 (GRCh38)
17:37228924 (GRCh37)
Canonical SPDI:: NC_000017.11:39072670:T:C,NC_000017.11:39072670:T:G
Gene:: PLXDC1 (Varview), RDM1P5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
G=0.00491/9 (Korea1K)
HGVS:: NC_000017.11:g.39072671T>C, NC_000017.11:g.39072671T>G, NC_000017.10:g.37228924T>C, NC_000017.10:g.37228924T>G

Select item 149038243114.

rs1490382431 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:39062549 (GRCh38)
17:37218802 (GRCh37)
Canonical SPDI:: NC_000017.11:39062547:ACA:A
Gene:: RDM1P5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.39062549_39062550del, NC_000017.10:g.37218802_37218803del

Select item 149028430715.

rs1490284307 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:39074028 (GRCh38)
17:37230281 (GRCh37)
Canonical SPDI:: NC_000017.11:39074027:G:A
Gene:: PLXDC1 (Varview), RDM1P5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.39074028G>A, NC_000017.10:g.37230281G>A

Select item 149002672616.

rs1490026726 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 17:39062671 (GRCh38)
17:37218924 (GRCh37)
Canonical SPDI:: NC_000017.11:39062670:G:A,NC_000017.11:39062670:G:C,NC_000017.11:39062670:G:T
Gene:: RDM1P5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.39062671G>A, NC_000017.11:g.39062671G>C, NC_000017.11:g.39062671G>T, NC_000017.10:g.37218924G>A, NC_000017.10:g.37218924G>C, NC_000017.10:g.37218924G>T

Select item 148974387917.

rs1489743879 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:39057105 (GRCh38)
17:37213358 (GRCh37)
Canonical SPDI:: NC_000017.11:39057104:C:G
Gene:: RDM1P5 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.39057105C>G, NC_000017.10:g.37213358C>G, NR_036551.2:n.87C>G, NR_036551.1:n.87C>G, NR_174975.1:n.87C>G

Select item 148962772118.

rs1489627721 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:39067855 (GRCh38)
17:37224108 (GRCh37)
Canonical SPDI:: NC_000017.11:39067854:C:T
Gene:: PLXDC1 (Varview), RDM1P5 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,synonymous_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.39067855C>T, NC_000017.10:g.37224108C>T, NM_020405.5:c.1488G>A, NM_020405.4:c.1488G>A, XM_047436424.1:c.1515G>A, XM_047436429.1:c.*77G>A, XM_047436425.1:c.1479G>A, XM_047436435.1:c.1269G>A, XM_047436426.1:c.1452G>A, XM_047436427.1:c.1419G>A, XM_047436428.1:c.1392G>A, XM_047436432.1:c.1296G>A, XM_047436434.1:c.1269G>A, XM_047436431.1:c.1311G>A, XM_047436433.1:c.1284G>A

Select item 148955994219.

rs1489559942 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:39061117 (GRCh38)
17:37217370 (GRCh37)
Canonical SPDI:: NC_000017.11:39061116:G:C
Gene:: RDM1P5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.39061117G>C, NC_000017.10:g.37217370G>C

Select item 148950653620.

rs1489506536 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:39066445 (GRCh38)
17:37222698 (GRCh37)
Canonical SPDI:: NC_000017.11:39066444:T:C
Gene:: PLXDC1 (Varview), RDM1P5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.00009/1 (ALFA)
HGVS:: NC_000017.11:g.39066445T>C, NC_000017.10:g.37222698T>C, NM_020405.5:c.*1395A>G, NM_020405.4:c.*1395A>G, XM_047436424.1:c.*1395A>G, XM_047436429.1:c.*1487A>G, XM_047436425.1:c.*1395A>G, XM_047436435.1:c.*1395A>G, XM_047436426.1:c.*1395A>G, XM_047436427.1:c.*1395A>G, XM_047436428.1:c.*1395A>G, XM_047436432.1:c.*1395A>G, XM_047436434.1:c.*1395A>G, XM_047436431.1:c.*1395A>G, XM_047436433.1:c.*1395A>G

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