SNP Links for Gene (Select 5365) - SNP

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Select item 14912560701.

rs1491256070 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: X:153762778 (GRCh38)
X:153028233 (GRCh37)
Canonical SPDI:: NC_000023.11:153762777:AT:
Gene:: PLXNB3 (Varview), PLXNB3-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.153762778_153762779del, NC_000023.10:g.153028233_153028234del, NG_013255.2:g.3531_3532del, NG_013255.1:g.3583_3584del, NW_003871103.3:g.1196761_1196762del, XR_430559.4:n.636_637del, XR_938540.3:n.712_713del, XR_007068354.1:n.646_647del, XR_007068351.1:n.641_642del

Select item 14911466862.

rs1491146686 has merged into rs782021008 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>-,GTGT [Show Flanks]
Chromosome:: X:153762790 (GRCh38)
X:153028245 (GRCh37)
Canonical SPDI:: NC_000023.11:153762778:TGTGTGTGTGTGT:TGTGTGTGTGT,NC_000023.11:153762778:TGTGTGTGTGTGT:TGTGTGTGTGTGTGT
Gene:: PLXNB3 (Varview), PLXNB3-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGT=0.000071/1 (ALFA)
TG=0.00003/8 (TOPMED)
TG=0.000048/5 (GnomAD)
TG=0.000225/3 (TOMMO)
HGVS:: NC_000023.11:g.153762780GT[5], NC_000023.11:g.153762780GT[7], NC_000023.10:g.153028235GT[5], NC_000023.10:g.153028235GT[7], NG_013255.2:g.3533GT[5], NG_013255.2:g.3533GT[7], NG_013255.1:g.3585GT[5], NG_013255.1:g.3585GT[7], NW_003871103.3:g.1196763GT[5], NW_003871103.3:g.1196763GT[7], XR_430559.4:n.625CA[5], XR_430559.4:n.625CA[7], XR_938540.3:n.701CA[5], XR_938540.3:n.701CA[7], XR_007068354.1:n.635CA[5], XR_007068354.1:n.635CA[7], XR_007068351.1:n.630CA[5], XR_007068351.1:n.630CA[7]

Select item 14908750083.

rs1490875008 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:153770168 (GRCh38)
X:153035623 (GRCh37)
Canonical SPDI:: NC_000023.11:153770167:G:C
Gene:: PLXNB3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.153770168G>C, NC_000023.10:g.153035623G>C, NG_013255.2:g.10921G>C, NG_013255.1:g.10973G>C, NM_005393.3:c.1706G>C, NM_005393.2:c.1706G>C, NM_001163257.2:c.1775G>C, NM_001163257.1:c.1775G>C, NW_003871103.3:g.1204151G>C, NP_005384.2:p.Ser569Thr, NP_001156729.1:p.Ser592Thr

Select item 14907814794.

rs1490781479 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:153764331 (GRCh38)
X:153029786 (GRCh37)
Canonical SPDI:: NC_000023.11:153764330:G:T
Gene:: PLXNB3 (Varview), PLXNB3-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.153764331G>T, NC_000023.10:g.153029786G>T, NG_013255.2:g.5084G>T, NG_013255.1:g.5136G>T, NW_003871103.3:g.1198314G>T

Select item 14906186925.

rs1490618692 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:153763839 (GRCh38)
X:153029294 (GRCh37)
Canonical SPDI:: NC_000023.11:153763838:G:A
Gene:: PLXNB3 (Varview), PLXNB3-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.153763839G>A, NC_000023.10:g.153029294G>A, NG_013255.2:g.4592G>A, NG_013255.1:g.4644G>A, NW_003871103.3:g.1197822G>A, XR_938540.3:n.155C>T, XR_938540.2:n.93C>T, XR_938540.1:n.91C>T, XR_007068354.1:n.94C>T, XR_007068352.1:n.153C>T

Select item 14906045126.

rs1490604512 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: X:153776773 (GRCh38)
X:153042228 (GRCh37)
Canonical SPDI:: NC_000023.11:153776772:G:A,NC_000023.11:153776772:G:C
Gene:: PLXNB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.153776773G>A, NC_000023.11:g.153776773G>C, NC_000023.10:g.153042228G>A, NC_000023.10:g.153042228G>C, NG_013255.2:g.17526G>A, NG_013255.2:g.17526G>C, NG_013255.1:g.17578G>A, NG_013255.1:g.17578G>C, NG_016329.1:g.773G>A, NG_016329.1:g.773G>C, NW_003871103.3:g.1210756G>A, NW_003871103.3:g.1210756G>C

Select item 14902461967.

rs1490246196 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:153777170 (GRCh38)
X:153042625 (GRCh37)
Canonical SPDI:: NC_000023.11:153777169:G:A
Gene:: PLXNB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
A=0.000013/1 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.153777170G>A, NC_000023.10:g.153042625G>A, NG_013255.2:g.17923G>A, NG_013255.1:g.17975G>A, NG_016329.1:g.1170G>A, NW_003871103.3:g.1211153G>A

Select item 14897779138.

rs1489777913 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:153776625 (GRCh38)
X:153042080 (GRCh37)
Canonical SPDI:: NC_000023.11:153776624:A:G
Gene:: PLXNB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00067/8 (ALFA)
A=0./0 (SGDP_PRJ)
G=0.00009/1 (TOMMO)
G=0.02129/41 (KOREAN)
HGVS:: NC_000023.11:g.153776625A>G, NC_000023.10:g.153042080A>G, NG_013255.2:g.17378A>G, NG_013255.1:g.17430A>G, NG_016329.1:g.625A>G, NW_003871103.3:g.1210608A>G

Select item 14894455569.

rs1489445556 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: X:153775751 (GRCh38)
X:153041206 (GRCh37)
Canonical SPDI:: NC_000023.11:153775750:C:G,NC_000023.11:153775750:C:T
Gene:: PLXNB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000162/3 (ALFA)
T=0.000045/12 (TOPMED)
T=0.000225/3 (TOMMO)
T=0.001369/4 (KOREAN)
HGVS:: NC_000023.11:g.153775751C>G, NC_000023.11:g.153775751C>T, NC_000023.10:g.153041206C>G, NC_000023.10:g.153041206C>T, NG_013255.2:g.16504C>G, NG_013255.2:g.16504C>T, NG_013255.1:g.16556C>G, NG_013255.1:g.16556C>T, NW_003871103.3:g.1209734C>G, NW_003871103.3:g.1209734C>T

Select item 148941372810.

rs1489413728 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:153776571 (GRCh38)
X:153042026 (GRCh37)
Canonical SPDI:: NC_000023.11:153776570:C:A,NC_000023.11:153776570:C:T
Gene:: PLXNB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000023.11:g.153776571C>A, NC_000023.11:g.153776571C>T, NC_000023.10:g.153042026C>A, NC_000023.10:g.153042026C>T, NG_013255.2:g.17324C>A, NG_013255.2:g.17324C>T, NG_013255.1:g.17376C>A, NG_013255.1:g.17376C>T, NG_016329.1:g.571C>A, NG_016329.1:g.571C>T, NW_003871103.3:g.1210554C>A, NW_003871103.3:g.1210554C>T

Select item 148916863811.

rs1489168638 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:153773175 (GRCh38)
X:153038630 (GRCh37)
Canonical SPDI:: NC_000023.11:153773174:C:T
Gene:: PLXNB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.153773175C>T, NC_000023.10:g.153038630C>T, NG_013255.2:g.13928C>T, NG_013255.1:g.13980C>T, NW_003871103.3:g.1207158C>T

Select item 148898305912.

rs1488983059 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:153772337 (GRCh38)
X:153037792 (GRCh37)
Canonical SPDI:: NC_000023.11:153772336:G:A
Gene:: PLXNB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/2 (GnomAD)
A=0.000034/9 (TOPMED)
HGVS:: NC_000023.11:g.153772337G>A, NC_000023.10:g.153037792G>A, NG_013255.2:g.13090G>A, NG_013255.1:g.13142G>A, NW_003871103.3:g.1206320G>A

Select item 148883331513.

rs1488833315 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:153772785 (GRCh38)
X:153038240 (GRCh37)
Canonical SPDI:: NC_000023.11:153772784:G:T
Gene:: PLXNB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.153772785G>T, NC_000023.10:g.153038240G>T, NG_013255.2:g.13538G>T, NG_013255.1:g.13590G>T, NW_003871103.3:g.1206768G>T

Select item 148865682014.

rs1488656820 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:153771909 (GRCh38)
X:153037364 (GRCh37)
Canonical SPDI:: NC_000023.11:153771908:A:G
Gene:: PLXNB3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000006/1 (GnomAD_exomes)
G=0.000019/5 (TOPMED)
G=0.000028/3 (GnomAD)
HGVS:: NC_000023.11:g.153771909A>G, NC_000023.10:g.153037364A>G, NG_013255.2:g.12662A>G, NG_013255.1:g.12714A>G, NM_005393.3:c.2563A>G, NM_005393.2:c.2563A>G, NM_001163257.2:c.2632A>G, NM_001163257.1:c.2632A>G, NW_003871103.3:g.1205892A>G, NP_005384.2:p.Ile855Val, NP_001156729.1:p.Ile878Val

Select item 148846638315.

rs1488466383 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:153765282 (GRCh38)
X:153030737 (GRCh37)
Canonical SPDI:: NC_000023.11:153765281:C:T
Gene:: PLXNB3 (Varview), PLXNB3-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000133/14 (GnomAD)
T=0.000162/43 (TOPMED)
HGVS:: NC_000023.11:g.153765282C>T, NC_000023.10:g.153030737C>T, NG_013255.2:g.6035C>T, NG_013255.1:g.6087C>T, NW_003871103.3:g.1199265C>T

Select item 148830729916.

rs1488307299 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:153764351 (GRCh38)
X:153029806 (GRCh37)
Canonical SPDI:: NC_000023.11:153764350:G:A
Gene:: PLXNB3 (Varview), PLXNB3-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.153764351G>A, NC_000023.10:g.153029806G>A, NG_013255.2:g.5104G>A, NG_013255.1:g.5156G>A, NW_003871103.3:g.1198334G>A

Select item 148827869217.

rs1488278692 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:153765491 (GRCh38)
X:153030946 (GRCh37)
Canonical SPDI:: NC_000023.11:153765490:A:C
Gene:: PLXNB3 (Varview), PLXNB3-AS1 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.153765491A>C, NC_000023.10:g.153030946A>C, NG_013255.2:g.6244A>C, NG_013255.1:g.6296A>C, NM_005393.3:c.-45A>C, NM_005393.2:c.-45A>C, NM_001163257.2:c.-142A>C, NM_001163257.1:c.-142A>C, NW_003871103.3:g.1199474A>C

Select item 148817145818.

rs1488171458 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: X:153778344 (GRCh38)
X:153043799 (GRCh37)
Canonical SPDI:: NC_000023.11:153778343:GGGG:GGG
Gene:: PLXNB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.153778347del, NC_000023.10:g.153043802del, NG_013255.2:g.19100del, NG_013255.1:g.19152del, NG_016329.1:g.2347del, NW_003871103.3:g.1212330del

Select item 148814015419.

rs1488140154 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:153764740 (GRCh38)
X:153030195 (GRCh37)
Canonical SPDI:: NC_000023.11:153764739:G:A
Gene:: PLXNB3 (Varview), PLXNB3-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.153764740G>A, NC_000023.10:g.153030195G>A, NG_013255.2:g.5493G>A, NG_013255.1:g.5545G>A, NW_003871103.3:g.1198723G>A

Select item 148808071820.

rs1488080718 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:153771596 (GRCh38)
X:153037051 (GRCh37)
Canonical SPDI:: NC_000023.11:153771595:G:C
Gene:: PLXNB3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.153771596G>C, NC_000023.10:g.153037051G>C, NG_013255.2:g.12349G>C, NG_013255.1:g.12401G>C, NM_005393.3:c.2458G>C, NM_005393.2:c.2458G>C, NM_001163257.2:c.2527G>C, NM_001163257.1:c.2527G>C, NW_003871103.3:g.1205579G>C, NP_005384.2:p.Gly820Arg, NP_001156729.1:p.Gly843Arg

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