SNP Links for Gene (Select 6404) - SNP

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Select item 14915822631.

rs1491582263 has merged into rs1354301986 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,GGG,GGGG [Show Flanks]
Chromosome:: 12:108632389 (GRCh38)
12:109026165 (GRCh37)
Canonical SPDI:: NC_000012.12:108632386:GGGG:GG,NC_000012.12:108632386:GGGG:GGGGG,NC_000012.12:108632386:GGGG:GGGGGG
Gene:: SELPLG (Varview), LOC105369968 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGG=0./0 (ALFA)
HGVS:: NC_000012.12:g.108632389_108632390del, NC_000012.12:g.108632390dup, NC_000012.12:g.108632389_108632390dup, NC_000012.11:g.109026165_109026166del, NC_000012.11:g.109026166dup, NC_000012.11:g.109026165_109026166dup

Select item 14914815882.

rs1491481588 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 12:108624693 (GRCh38)
12:109018469 (GRCh37)
Canonical SPDI:: NC_000012.12:108624691:TCT:T
Gene:: SELPLG (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000506/6 (ALFA)
-=0.000119/2 (TOMMO)
-=0.000557/73 (GnomAD)
-=0.117314/435 (TWINSUK)
-=0.128697/496 (ALSPAC)
HGVS:: NC_000012.12:g.108624693_108624694del, NC_000012.11:g.109018469_109018470del

Select item 14912288683.

rs1491228868 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 12:108634904 (GRCh38)
12:109028681 (GRCh37)
Canonical SPDI:: NC_000012.12:108634904::C
Gene:: SELPLG (Varview), MIR4496 (Varview), LOC105369968 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00003/1 (GnomAD)
HGVS:: NC_000012.12:g.108634904_108634905insC, NC_000012.11:g.109028680_109028681insC, XR_007063449.1:n.678_679insC, XR_007063448.1:n.678_679insC, XR_007063447.1:n.678_679insC

Select item 14908790494.

rs1490879049 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:108631020 (GRCh38)
12:109024796 (GRCh37)
Canonical SPDI:: NC_000012.12:108631019:C:T
Gene:: SELPLG (Varview), LOC105369968 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.108631020C>T, NC_000012.11:g.109024796C>T

Select item 14907940995.

rs1490794099 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:108623366 (GRCh38)
12:109017142 (GRCh37)
Canonical SPDI:: NC_000012.12:108623365:G:A
Gene:: SELPLG (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.108623366G>A, NC_000012.11:g.109017142G>A, NM_003006.4:c.942C>T, NM_001206609.2:c.990C>T, NM_001206609.1:c.990C>T

Select item 14903909796.

rs1490390979 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:108630454 (GRCh38)
12:109024230 (GRCh37)
Canonical SPDI:: NC_000012.12:108630453:C:G,NC_000012.12:108630453:C:T
Gene:: SELPLG (Varview), LOC105369968 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.108630454C>G, NC_000012.12:g.108630454C>T, NC_000012.11:g.109024230C>G, NC_000012.11:g.109024230C>T

Select item 14901549167.

rs1490154916 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:108632315 (GRCh38)
12:109026091 (GRCh37)
Canonical SPDI:: NC_000012.12:108632314:A:G
Gene:: SELPLG (Varview), LOC105369968 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.108632315A>G, NC_000012.11:g.109026091A>G

Select item 14897428208.

rs1489742820 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAATGTGTGT>- [Show Flanks]
Chromosome:: 12:108632428 (GRCh38)
12:109026204 (GRCh37)
Canonical SPDI:: NC_000012.12:108632420:TGTGTGTGAATGTGTGT:TGTGTGT
Gene:: SELPLG (Varview), LOC105369968 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGT=0.000253/3 (ALFA)
-=0.000432/60 (GnomAD)
-=0.000781/5 (1000Genomes)
HGVS:: NC_000012.12:g.108632428_108632437del, NC_000012.11:g.109026204_109026213del

Select item 14893824029.

rs1489382402 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:108635611 (GRCh38)
12:109029387 (GRCh37)
Canonical SPDI:: NC_000012.12:108635610:C:A,NC_000012.12:108635610:C:T
Gene:: SELPLG (Varview), MIR4496 (Varview), LOC105369968 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.108635611C>A, NC_000012.12:g.108635611C>T, NC_000012.11:g.109029387C>A, NC_000012.11:g.109029387C>T, XR_007063449.1:n.1385C>A, XR_007063449.1:n.1385C>T, XR_007063448.1:n.1385C>A, XR_007063448.1:n.1385C>T, XR_007063447.1:n.1385C>A, XR_007063447.1:n.1385C>T

Select item 148916833110.

rs1489168331 has merged into rs573374699 [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,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:108626136 (GRCh38)
12:109019912 (GRCh37)
Canonical SPDI:: NC_000012.12:108626128:TTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000012.12:108626128:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000012.12:108626128:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:108626128:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:108626128:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:108626128:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:108626128:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:108626128:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:108626128:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:108626128:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:108626128:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:108626128:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:108626128:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:108626128:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:108626128:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:108626128:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:108626128:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:108626128:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:108626128:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:108626128:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:108626128:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:108626128:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SELPLG (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
HGVS:: NC_000012.12:g.108626136_108626148del, NC_000012.12:g.108626138_108626148del, NC_000012.12:g.108626139_108626148del, NC_000012.12:g.108626140_108626148del, NC_000012.12:g.108626141_108626148del, NC_000012.12:g.108626142_108626148del, NC_000012.12:g.108626143_108626148del, NC_000012.12:g.108626144_108626148del, NC_000012.12:g.108626145_108626148del, NC_000012.12:g.108626146_108626148del, NC_000012.12:g.108626147_108626148del, NC_000012.12:g.108626148del, NC_000012.12:g.108626148dup, NC_000012.12:g.108626147_108626148dup, NC_000012.12:g.108626146_108626148dup, NC_000012.12:g.108626145_108626148dup, NC_000012.12:g.108626144_108626148dup, NC_000012.12:g.108626143_108626148dup, NC_000012.12:g.108626142_108626148dup, NC_000012.12:g.108626141_108626148dup, NC_000012.12:g.108626140_108626148dup, NC_000012.12:g.108626131_108626148dup, NC_000012.11:g.109019912_109019924del, NC_000012.11:g.109019914_109019924del, NC_000012.11:g.109019915_109019924del, NC_000012.11:g.109019916_109019924del, NC_000012.11:g.109019917_109019924del, NC_000012.11:g.109019918_109019924del, NC_000012.11:g.109019919_109019924del, NC_000012.11:g.109019920_109019924del, NC_000012.11:g.109019921_109019924del, NC_000012.11:g.109019922_109019924del, NC_000012.11:g.109019923_109019924del, NC_000012.11:g.109019924del, NC_000012.11:g.109019924dup, NC_000012.11:g.109019923_109019924dup, NC_000012.11:g.109019922_109019924dup, NC_000012.11:g.109019921_109019924dup, NC_000012.11:g.109019920_109019924dup, NC_000012.11:g.109019919_109019924dup, NC_000012.11:g.109019918_109019924dup, NC_000012.11:g.109019917_109019924dup, NC_000012.11:g.109019916_109019924dup, NC_000012.11:g.109019907_109019924dup

Select item 148887485211.

rs1488874852 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:108632537 (GRCh38)
12:109026313 (GRCh37)
Canonical SPDI:: NC_000012.12:108632536:C:T
Gene:: SELPLG (Varview), LOC105369968 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,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_000012.12:g.108632537C>T, NC_000012.11:g.109026313C>T

Select item 148868233212.

rs1488682332 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:108633181 (GRCh38)
12:109026957 (GRCh37)
Canonical SPDI:: NC_000012.12:108633180:G:A
Gene:: SELPLG (Varview), LOC105369968 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000012.12:g.108633181G>A, NC_000012.11:g.109026957G>A

Select item 148853322113.

rs1488533221 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 12:108626286 (GRCh38)
12:109020062 (GRCh37)
Canonical SPDI:: NC_000012.12:108626285:AA:A
Gene:: SELPLG (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0.000108/2 (ALFA)
-=0.000023/6 (TOPMED)
-=0.000029/4 (GnomAD)
-=0.000071/1 (TOMMO)
-=0.000893/4 (Estonian)
HGVS:: NC_000012.12:g.108626287del, NC_000012.11:g.109020063del

Select item 148822272414.

rs1488222724 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 12:108633379 (GRCh38)
12:109027155 (GRCh37)
Canonical SPDI:: NC_000012.12:108633378:T:C,NC_000012.12:108633378:T:G
Gene:: SELPLG (Varview), LOC105369968 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.108633379T>C, NC_000012.12:g.108633379T>G, NC_000012.11:g.109027155T>C, NC_000012.11:g.109027155T>G

Select item 148819506415.

rs1488195064 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 12:108624147 (GRCh38)
12:109017923 (GRCh37)
Canonical SPDI:: NC_000012.12:108624146:A:G,NC_000012.12:108624146:A:T
Gene:: SELPLG (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.108624147A>G, NC_000012.12:g.108624147A>T, NC_000012.11:g.109017923A>G, NC_000012.11:g.109017923A>T, NM_003006.4:c.161T>C, NM_003006.4:c.161T>A, NM_001206609.2:c.209T>C, NM_001206609.2:c.209T>A, NM_001206609.1:c.209T>C, NM_001206609.1:c.209T>A, NP_002997.2:p.Leu54Pro, NP_002997.2:p.Leu54Gln, NP_001193538.1:p.Leu70Pro, NP_001193538.1:p.Leu70Gln

Select item 148796868416.

rs1487968684 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:108629352 (GRCh38)
12:109023128 (GRCh37)
Canonical SPDI:: NC_000012.12:108629351:T:C
Gene:: SELPLG (Varview), LOC105369968 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.108629352T>C, NC_000012.11:g.109023128T>C

Select item 148787925417.

rs1487879254 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:108628417 (GRCh38)
12:109022193 (GRCh37)
Canonical SPDI:: NC_000012.12:108628416:C:T
Gene:: SELPLG (Varview), LOC105369968 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.108628417C>T, NC_000012.11:g.109022193C>T

Select item 148780540418.

rs1487805404 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTTTT>- [Show Flanks]
Chromosome:: 12:108626128 (GRCh38)
12:109019904 (GRCh37)
Canonical SPDI:: NC_000012.12:108626119:TTTCTTTTCTTTT:TTTCTTTT
Gene:: SELPLG (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTCTTTT=0./0 (ALFA)
HGVS:: NC_000012.12:g.108626123CTTTT[1], NC_000012.11:g.109019899CTTTT[1]

Select item 148748111119.

rs1487481111 [Homo sapiens]

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

Select item 148724158720.

rs1487241587 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:108632936 (GRCh38)
12:109026712 (GRCh37)
Canonical SPDI:: NC_000012.12:108632935:G:A
Gene:: SELPLG (Varview), LOC105369968 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.108632936G>A, NC_000012.11:g.109026712G>A

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