SNP Links for Nucleotide (Select 54792057) - SNP

Select item 14910321671.

rs1491032167 has merged into rs5772544 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:13617169 (GRCh38)
1:13943664 (GRCh37)
Canonical SPDI:: NC_000001.11:13617158:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:13617158:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:13617158:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:13617158:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:13617158:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:13617158:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:13617158:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PDPN (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
T=0.1796/692 (ALSPAC)
T=0.1877/696 (TWINSUK)
T=0.2876/172 (NorthernSweden)
T=0.3/12 (GENOME_DK)
T=0.4996/2502 (1000Genomes)
HGVS:: NC_000001.11:g.13617169_13617173del, NC_000001.11:g.13617171_13617173del, NC_000001.11:g.13617172_13617173del, NC_000001.11:g.13617173del, NC_000001.11:g.13617173dup, NC_000001.11:g.13617172_13617173dup, NC_000001.11:g.13617164_13617173dup, NC_000001.10:g.13943664_13943668del, NC_000001.10:g.13943666_13943668del, NC_000001.10:g.13943667_13943668del, NC_000001.10:g.13943668del, NC_000001.10:g.13943668dup, NC_000001.10:g.13943667_13943668dup, NC_000001.10:g.13943659_13943668dup, NM_006474.5:c.*1258_*1262del, NM_006474.5:c.*1260_*1262del, NM_006474.5:c.*1261_*1262del, NM_006474.5:c.*1262del, NM_006474.5:c.*1262dup, NM_006474.5:c.*1261_*1262dup, NM_006474.5:c.*1253_*1262dup, NM_006474.4:c.*1258_*1262del, NM_006474.4:c.*1260_*1262del, NM_006474.4:c.*1261_*1262del, NM_006474.4:c.*1262del, NM_006474.4:c.*1262dup, NM_006474.4:c.*1261_*1262dup, NM_006474.4:c.*1253_*1262dup, XM_024451404.2:c.*1258_*1262del, XM_024451404.2:c.*1260_*1262del, XM_024451404.2:c.*1261_*1262del, XM_024451404.2:c.*1262del, XM_024451404.2:c.*1262dup, XM_024451404.2:c.*1261_*1262dup, XM_024451404.2:c.*1253_*1262dup, XM_024451404.1:c.*1258_*1262del, XM_024451404.1:c.*1260_*1262del, XM_024451404.1:c.*1261_*1262del, XM_024451404.1:c.*1262del, XM_024451404.1:c.*1262dup, XM_024451404.1:c.*1261_*1262dup, XM_024451404.1:c.*1253_*1262dup, NM_198389.2:c.*1258_*1262del, NM_198389.2:c.*1260_*1262del, NM_198389.2:c.*1261_*1262del, NM_198389.2:c.*1262del, NM_198389.2:c.*1262dup, NM_198389.2:c.*1261_*1262dup, NM_198389.2:c.*1253_*1262dup, NM_001006624.2:c.*1258_*1262del, NM_001006624.2:c.*1260_*1262del, NM_001006624.2:c.*1261_*1262del, NM_001006624.2:c.*1262del, NM_001006624.2:c.*1262dup, NM_001006624.2:c.*1261_*1262dup, NM_001006624.2:c.*1253_*1262dup, NM_001006624.1:c.*1258_*1262del, NM_001006624.1:c.*1260_*1262del, NM_001006624.1:c.*1261_*1262del, NM_001006624.1:c.*1262del, NM_001006624.1:c.*1262dup, NM_001006624.1:c.*1261_*1262dup, NM_001006624.1:c.*1253_*1262dup, NM_001006625.2:c.*1258_*1262del, NM_001006625.2:c.*1260_*1262del, NM_001006625.2:c.*1261_*1262del, NM_001006625.2:c.*1262del, NM_001006625.2:c.*1262dup, NM_001006625.2:c.*1261_*1262dup, NM_001006625.2:c.*1253_*1262dup, NM_001006625.1:c.*1258_*1262del, NM_001006625.1:c.*1260_*1262del, NM_001006625.1:c.*1261_*1262del, NM_001006625.1:c.*1262del, NM_001006625.1:c.*1262dup, NM_001006625.1:c.*1261_*1262dup, NM_001006625.1:c.*1253_*1262dup, XM_006710295.2:c.*1258_*1262del, XM_006710295.2:c.*1260_*1262del, XM_006710295.2:c.*1261_*1262del, XM_006710295.2:c.*1262del, XM_006710295.2:c.*1262dup, XM_006710295.2:c.*1261_*1262dup, XM_006710295.2:c.*1253_*1262dup, XM_006710295.1:c.*1258_*1262del, XM_006710295.1:c.*1260_*1262del, XM_006710295.1:c.*1261_*1262del, XM_006710295.1:c.*1262del, XM_006710295.1:c.*1262dup, XM_006710295.1:c.*1261_*1262dup, XM_006710295.1:c.*1253_*1262dup, NM_001385053.1:c.*1258_*1262del, NM_001385053.1:c.*1260_*1262del, NM_001385053.1:c.*1261_*1262del, NM_001385053.1:c.*1262del, NM_001385053.1:c.*1262dup, NM_001385053.1:c.*1261_*1262dup, NM_001385053.1:c.*1253_*1262dup, XM_047434471.1:c.*1258_*1262del, XM_047434471.1:c.*1260_*1262del, XM_047434471.1:c.*1261_*1262del, XM_047434471.1:c.*1262del, XM_047434471.1:c.*1262dup, XM_047434471.1:c.*1261_*1262dup, XM_047434471.1:c.*1253_*1262dup

Select item 14895752462.

rs1489575246 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:13583963 (GRCh38)
1:13910458 (GRCh37)
Canonical SPDI:: NC_000001.11:13583962:G:A,NC_000001.11:13583962:G:T
Gene:: PDPN (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000001.11:g.13583963G>A, NC_000001.11:g.13583963G>T, NC_000001.10:g.13910458G>A, NC_000001.10:g.13910458G>T, NM_006474.5:c.-71G>A, NM_006474.5:c.-71G>T, NM_006474.4:c.158G>A, NM_006474.4:c.158G>T, NM_198389.2:c.158G>A, NM_198389.2:c.158G>T, NP_938203.2:p.Cys53Tyr, NP_938203.2:p.Cys53Phe

Select item 14879433933.

rs1487943393 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:13617703 (GRCh38)
1:13944198 (GRCh37)
Canonical SPDI:: NC_000001.11:13617702:G:A
Gene:: PDPN (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.13617703G>A, NC_000001.10:g.13944198G>A, NM_006474.5:c.*1792G>A, NM_006474.4:c.*1792G>A, XM_024451404.2:c.*1792G>A, XM_024451404.1:c.*1792G>A, NM_198389.2:c.*1792G>A, NM_001006624.2:c.*1792G>A, NM_001006624.1:c.*1792G>A, NM_001006625.2:c.*1792G>A, NM_001006625.1:c.*1792G>A, XM_006710295.2:c.*1792G>A, XM_006710295.1:c.*1792G>A, NM_001385053.1:c.*1792G>A, XM_047434471.1:c.*1792G>A

Select item 14878917064.

rs1487891706 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:13616545 (GRCh38)
1:13943040 (GRCh37)
Canonical SPDI:: NC_000001.11:13616544:T:G
Gene:: PDPN (Varview)
Functional Consequence:: 3_prime_UTR_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_000001.11:g.13616545T>G, NC_000001.10:g.13943040T>G, NM_006474.5:c.*634T>G, NM_006474.4:c.*634T>G, XM_024451404.2:c.*634T>G, XM_024451404.1:c.*634T>G, NM_198389.2:c.*634T>G, NM_001006624.2:c.*634T>G, NM_001006624.1:c.*634T>G, NM_001006625.2:c.*634T>G, NM_001006625.1:c.*634T>G, XM_006710295.2:c.*634T>G, XM_006710295.1:c.*634T>G, NM_001385053.1:c.*634T>G, XM_047434471.1:c.*634T>G

Select item 14876446525.

rs1487644652 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:13607264 (GRCh38)
1:13933759 (GRCh37)
Canonical SPDI:: NC_000001.11:13607263:A:G
Gene:: PDPN (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.13607264A>G, NC_000001.10:g.13933759A>G, NM_006474.5:c.159A>G, NM_006474.4:c.387A>G, XM_024451404.2:c.33A>G, XM_024451404.1:c.33A>G, NM_198389.2:c.387A>G, NM_001006624.2:c.33A>G, NM_001006624.1:c.33A>G, NM_001006625.2:c.33A>G, NM_001006625.1:c.33A>G, XM_006710295.2:c.33A>G, XM_006710295.1:c.33A>G, NM_001385053.1:c.33A>G, XM_047434471.1:c.33A>G

Select item 14849529956.

rs1484952995 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:13583867 (GRCh38)
1:13910362 (GRCh37)
Canonical SPDI:: NC_000001.11:13583866:G:A
Gene:: PDPN (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,stop_gained,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.13583867G>A, NC_000001.10:g.13910362G>A, NM_006474.5:c.-167G>A, NM_006474.4:c.62G>A, NM_198389.2:c.62G>A, NP_938203.2:p.Trp21Ter