SNP Links for Gene (Select 51332) - SNP

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Select item 14915806981.

rs1491580698 has merged into rs111432071 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C [Show Flanks]
Chromosome:: 15:41852782 (GRCh38)
15:42144980 (GRCh37)
Canonical SPDI:: NC_000015.10:41852780:CCC:C,NC_000015.10:41852780:CCC:CC
Gene:: SPTBN5 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0.00262/43 (ALFA)
-=0.00012/2 (TOMMO)
-=0.00453/29 (1000Genomes)
-=0.00667/4 (NorthernSweden)
-=0.075/3 (GENOME_DK)
HGVS:: NC_000015.10:g.41852782_41852783del, NC_000015.10:g.41852783del, NC_000015.9:g.42144980_42144981del, NC_000015.9:g.42144981del

Select item 14914626192.

rs1491462619 [Homo sapiens]

Variant type:: DELINS
Alleles:: CG>- [Show Flanks]
Chromosome:: 15:41876656 (GRCh38)
15:42168854 (GRCh37)
Canonical SPDI:: NC_000015.10:41876654:GCG:G
Gene:: SPTBN5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.0001/1 (ALFA)
HGVS:: NC_000015.10:g.41876656_41876657del, NC_000015.9:g.42168854_42168855del

Select item 14913460473.

rs1491346047 [Homo sapiens]

Variant type:: SNV:
Alleles:: TG>-
Chromosome:: no mapping
Canonical SPDI:

Select item 14912603154.

rs1491260315 has merged into rs370153269 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGG>-,G,GG,GGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG,GGGGGGGGG [Show Flanks]
Chromosome:: 15:41852777 (GRCh38)
15:42144975 (GRCh37)
Canonical SPDI:: NC_000015.10:41852769:GGGGGGGGGGG:GGGGGGG,NC_000015.10:41852769:GGGGGGGGGGG:GGGGGGGG,NC_000015.10:41852769:GGGGGGGGGGG:GGGGGGGGG,NC_000015.10:41852769:GGGGGGGGGGG:GGGGGGGGGG,NC_000015.10:41852769:GGGGGGGGGGG:GGGGGGGGGGGG,NC_000015.10:41852769:GGGGGGGGGGG:GGGGGGGGGGGGG,NC_000015.10:41852769:GGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000015.10:41852769:GGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000015.10:41852769:GGGGGGGGGGG:GGGGGGGGGGGGGGGG
Gene:: SPTBN5 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGGGGGGGG=0./0 (ALFA)
GGG=0.01025/38 (TWINSUK)
GGG=0.01531/59 (ALSPAC)
G=0.01833/11 (NorthernSweden)
G=0.025/1 (GENOME_DK)
-=0.0595/298 (1000Genomes)
HGVS:: NC_000015.10:g.41852777_41852780del, NC_000015.10:g.41852778_41852780del, NC_000015.10:g.41852779_41852780del, NC_000015.10:g.41852780del, NC_000015.10:g.41852780dup, NC_000015.10:g.41852779_41852780dup, NC_000015.10:g.41852778_41852780dup, NC_000015.10:g.41852777_41852780dup, NC_000015.10:g.41852776_41852780dup, NC_000015.9:g.42144975_42144978del, NC_000015.9:g.42144976_42144978del, NC_000015.9:g.42144977_42144978del, NC_000015.9:g.42144978del, NC_000015.9:g.42144978dup, NC_000015.9:g.42144977_42144978dup, NC_000015.9:g.42144976_42144978dup, NC_000015.9:g.42144975_42144978dup, NC_000015.9:g.42144974_42144978dup

Select item 14910641755.

rs1491064175 has merged into rs770280362 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>- [Show Flanks]
Chromosome:: 15:41847872 (GRCh38)
15:42140070 (GRCh37)
Canonical SPDI:: NC_000015.10:41847869:CCCC:CC
Gene:: JMJD7-PLA2G4B (Varview), SPTBN5 (Varview), PLA2G4B (Varview)
Functional Consequence:: 3_prime_UTR_variant,500B_downstream_variant,downstream_transcript_variant
HGVS:: NC_000015.10:g.41847872_41847873del, NC_000015.9:g.42140070_42140071del, NG_029927.1:g.24788_24789del, NM_005090.4:c.*12_*13del, NM_005090.3:c.*12_*13del, NM_001198588.2:c.*182_*183del, NM_001198588.1:c.*182_*183del, NM_001114633.2:c.*12_*13del, NM_001114633.1:c.*12_*13del, NR_015346.1:n.6945_6946del

Select item 14909089736.

rs1490908973 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:41874036 (GRCh38)
15:42166234 (GRCh37)
Canonical SPDI:: NC_000015.10:41874035:C:T
Gene:: SPTBN5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.41874036C>T, NC_000015.9:g.42166234C>T, NM_016642.4:c.4699G>A, NM_016642.3:c.4699G>A, XM_017022299.2:c.4759G>A, XM_017022299.1:c.4759G>A, XM_017022302.2:c.1936G>A, XM_017022302.1:c.1936G>A, XR_001751302.2:n.4748G>A, XR_001751302.1:n.4785G>A, XR_001751303.2:n.4748G>A, XR_001751303.1:n.4785G>A, NP_057726.4:p.Val1567Met, XP_016877788.1:p.Val1587Met, XP_016877791.1:p.Val646Met

Select item 14908616697.

rs1490861669 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:41867849 (GRCh38)
15:42160047 (GRCh37)
Canonical SPDI:: NC_000015.10:41867848:G:C
Gene:: SPTBN5 (Varview), MIR4310 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000169/2 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.41867849G>C, NC_000015.9:g.42160047G>C

Select item 14908224638.

rs1490822463 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:41871358 (GRCh38)
15:42163556 (GRCh37)
Canonical SPDI:: NC_000015.10:41871357:G:T
Gene:: SPTBN5 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000015.10:g.41871358G>T, NC_000015.9:g.42163556G>T

Select item 14907317519.

rs1490731751 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:41894243 (GRCh38)
15:42186441 (GRCh37)
Canonical SPDI:: NC_000015.10:41894242:G:A
Gene:: SPTBN5 (Varview), LOC105370792 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000108/2 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000064/9 (GnomAD)
A=0.000446/2 (Estonian)
HGVS:: NC_000015.10:g.41894243G>A, NC_000015.9:g.42186441G>A

Select item 149070672310.

rs1490706723 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 15:41850366 (GRCh38)
15:42142564 (GRCh37)
Canonical SPDI:: NC_000015.10:41850365:C:G,NC_000015.10:41850365:C:T
Gene:: SPTBN5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.41850366C>G, NC_000015.10:g.41850366C>T, NC_000015.9:g.42142564C>G, NC_000015.9:g.42142564C>T

Select item 149055769511.

rs1490557695 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 15:41861788 (GRCh38)
15:42153986 (GRCh37)
Canonical SPDI:: NC_000015.10:41861787:C:A,NC_000015.10:41861787:C:T
Gene:: SPTBN5 (Varview)
Functional Consequence:: missense_variant,stop_gained,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000015.10:g.41861788C>A, NC_000015.10:g.41861788C>T, NC_000015.9:g.42153986C>A, NC_000015.9:g.42153986C>T, NM_016642.4:c.7684G>T, NM_016642.4:c.7684G>A, NM_016642.3:c.7684G>T, NM_016642.3:c.7684G>A, XM_017022299.2:c.7744G>T, XM_017022299.2:c.7744G>A, XM_017022299.1:c.7744G>T, XM_017022299.1:c.7744G>A, XM_017022302.2:c.4921G>T, XM_017022302.2:c.4921G>A, XM_017022302.1:c.4921G>T, XM_017022302.1:c.4921G>A, XR_001751302.2:n.7733G>T, XR_001751302.2:n.7733G>A, XR_001751302.1:n.7770G>T, XR_001751302.1:n.7770G>A, XR_001751303.2:n.7733G>T, XR_001751303.2:n.7733G>A, XR_001751303.1:n.7770G>T, XR_001751303.1:n.7770G>A, NP_057726.4:p.Glu2562Ter, NP_057726.4:p.Glu2562Lys, XP_016877788.1:p.Glu2582Ter, XP_016877788.1:p.Glu2582Lys, XP_016877791.1:p.Glu1641Ter, XP_016877791.1:p.Glu1641Lys

Select item 149035193812.

rs1490351938 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 15:41855711 (GRCh38)
15:42147909 (GRCh37)
Canonical SPDI:: NC_000015.10:41855710:CCCC:CCC
Gene:: SPTBN5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: CCC=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.41855714del, NC_000015.9:g.42147912del, NM_016642.4:c.9056del, NM_016642.3:c.9056del, XM_017022299.2:c.9116del, XM_017022299.1:c.9116del, XM_017022302.2:c.6293del, XM_017022302.1:c.6293del, NP_057726.4:p.Gly3019fs, XP_016877788.1:p.Gly3039fs, XP_016877791.1:p.Gly2098fs

Select item 149028123913.

rs1490281239 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:41871816 (GRCh38)
15:42164014 (GRCh37)
Canonical SPDI:: NC_000015.10:41871815:C:T
Gene:: SPTBN5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.41871816C>T, NC_000015.9:g.42164014C>T, NM_016642.4:c.5267G>A, NM_016642.3:c.5267G>A, XM_017022299.2:c.5327G>A, XM_017022299.1:c.5327G>A, XM_017022302.2:c.2504G>A, XM_017022302.1:c.2504G>A, XR_001751302.2:n.5316G>A, XR_001751302.1:n.5353G>A, XR_001751303.2:n.5316G>A, XR_001751303.1:n.5353G>A, NP_057726.4:p.Gly1756Glu, XP_016877788.1:p.Gly1776Glu, XP_016877791.1:p.Gly835Glu

Select item 149023886914.

rs1490238869 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 15:41848381 (GRCh38)
15:42140579 (GRCh37)
Canonical SPDI:: NC_000015.10:41848380:G:A,NC_000015.10:41848380:G:C
Gene:: JMJD7-PLA2G4B (Varview), SPTBN5 (Varview), PLA2G4B (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000021/3 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000015.10:g.41848381G>A, NC_000015.10:g.41848381G>C, NC_000015.9:g.42140579G>A, NC_000015.9:g.42140579G>C, NG_029927.1:g.25297G>A, NG_029927.1:g.25297G>C, NM_016642.4:c.*235C>T, NM_016642.4:c.*235C>G, NM_016642.3:c.*235C>T, NM_016642.3:c.*235C>G, XM_017022299.2:c.*235C>T, XM_017022299.2:c.*235C>G, XM_017022299.1:c.*235C>T, XM_017022299.1:c.*235C>G, XM_017022302.2:c.*235C>T, XM_017022302.2:c.*235C>G, XM_017022302.1:c.*235C>T, XM_017022302.1:c.*235C>G

Select item 149006892715.

rs1490068927 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:41860808 (GRCh38)
15:42153006 (GRCh37)
Canonical SPDI:: NC_000015.10:41860807:C:T
Gene:: SPTBN5 (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)
HGVS:: NC_000015.10:g.41860808C>T, NC_000015.9:g.42153006C>T

Select item 149004977216.

rs1490049772 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 15:41890412 (GRCh38)
15:42182610 (GRCh37)
Canonical SPDI:: NC_000015.10:41890411:A:T
Gene:: SPTBN5 (Varview)
Functional Consequence:: intron_variant,genic_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_000015.10:g.41890412A>T, NC_000015.9:g.42182610A>T

Select item 149002514617.

rs1490025146 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 15:41881936 (GRCh38)
15:42174134 (GRCh37)
Canonical SPDI:: NC_000015.10:41881935:C:A,NC_000015.10:41881935:C:G,NC_000015.10:41881935:C:T
Gene:: SPTBN5 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.41881936C>A, NC_000015.10:g.41881936C>G, NC_000015.10:g.41881936C>T, NC_000015.9:g.42174134C>A, NC_000015.9:g.42174134C>G, NC_000015.9:g.42174134C>T, NM_016642.4:c.2457G>T, NM_016642.4:c.2457G>C, NM_016642.4:c.2457G>A, NM_016642.3:c.2457G>T, NM_016642.3:c.2457G>C, NM_016642.3:c.2457G>A, XM_017022299.2:c.2517G>T, XM_017022299.2:c.2517G>C, XM_017022299.2:c.2517G>A, XM_017022299.1:c.2517G>T, XM_017022299.1:c.2517G>C, XM_017022299.1:c.2517G>A, XR_001751302.2:n.2506G>T, XR_001751302.2:n.2506G>C, XR_001751302.2:n.2506G>A, XR_001751302.1:n.2543G>T, XR_001751302.1:n.2543G>C, XR_001751302.1:n.2543G>A, XR_001751303.2:n.2506G>T, XR_001751303.2:n.2506G>C, XR_001751303.2:n.2506G>A, XR_001751303.1:n.2543G>T, XR_001751303.1:n.2543G>C, XR_001751303.1:n.2543G>A

Select item 149000804118.

rs1490008041 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:41858264 (GRCh38)
15:42150462 (GRCh37)
Canonical SPDI:: NC_000015.10:41858263:C:T
Gene:: SPTBN5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000015.10:g.41858264C>T, NC_000015.9:g.42150462C>T

Select item 149000478119.

rs1490004781 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACAG>- [Show Flanks]
Chromosome:: 15:41882827 (GRCh38)
15:42175025 (GRCh37)
Canonical SPDI:: NC_000015.10:41882824:AGACAG:AG
Gene:: SPTBN5 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AG=0./0 (ALFA)
-=0.000029/4 (GnomAD)
-=0.000034/9 (TOPMED)
HGVS:: NC_000015.10:g.41882827_41882830del, NC_000015.9:g.42175025_42175028del

Select item 149000242420.

rs1490002424 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:41874084 (GRCh38)
15:42166282 (GRCh37)
Canonical SPDI:: NC_000015.10:41874083:C:T
Gene:: SPTBN5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.41874084C>T, NC_000015.9:g.42166282C>T

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