SNP Links for Gene (Select 344787) - SNP

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Select item 14915115271.

rs1491511527 has merged into rs144693842 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT [Show Flanks]
Chromosome:: 3:31984360 (GRCh38)
3:32025852 (GRCh37)
Canonical SPDI:: NC_000003.12:31984348:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:31984348:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:31984348:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:31984348:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:31984348:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
Gene:: OSBPL10 (Varview), ZNF860 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
T=0.075/3 (GENOME_DK)
T=0.123003/616 (1000Genomes)
HGVS:: NC_000003.12:g.31984360_31984361del, NC_000003.12:g.31984361del, NC_000003.12:g.31984361dup, NC_000003.12:g.31984360_31984361dup, NC_000003.12:g.31984359_31984361dup, NC_000003.11:g.32025852_32025853del, NC_000003.11:g.32025853del, NC_000003.11:g.32025853dup, NC_000003.11:g.32025852_32025853dup, NC_000003.11:g.32025851_32025853dup

Select item 14913670902.

rs1491367090 has merged into rs1214239791 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA [Show Flanks]
Chromosome:: 3:31987141 (GRCh38)
3:32028633 (GRCh37)
Canonical SPDI:: NC_000003.12:31987133:ATATATATA:ATATATA,NC_000003.12:31987133:ATATATATA:ATATATATATA
Gene:: OSBPL10 (Varview), ZNF860 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATA=0.00006/1 (ALFA)
HGVS:: NC_000003.12:g.31987135TA[3], NC_000003.12:g.31987135TA[5], NC_000003.11:g.32028627TA[3], NC_000003.11:g.32028627TA[5], XM_047448073.1:c.-1945TA[3], XM_047448073.1:c.-1945TA[5]

Select item 14910810073.

rs1491081007 has merged into rs34418500 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA [Show Flanks]
Chromosome:: 3:31991874 (GRCh38)
3:32033366 (GRCh37)
Canonical SPDI:: NC_000003.12:31991863:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:31991863:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:31991863:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:31991863:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:31991863:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA
Gene:: OSBPL10 (Varview), ZNF860 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.135/81 (NorthernSweden)
-=0.16343/606 (TWINSUK)
-=0.17852/688 (ALSPAC)
-=0.2/8 (GENOME_DK)
-=0.42627/2035 (1000Genomes)
HGVS:: NC_000003.12:g.31991874_31991876del, NC_000003.12:g.31991875_31991876del, NC_000003.12:g.31991876del, NC_000003.12:g.31991876dup, NC_000003.12:g.31991875_31991876dup, NC_000003.11:g.32033366_32033368del, NC_000003.11:g.32033367_32033368del, NC_000003.11:g.32033368del, NC_000003.11:g.32033368dup, NC_000003.11:g.32033367_32033368dup

Select item 14910788194.

rs1491078819 has merged into rs5847729 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:31999375 (GRCh38)
3:32040867 (GRCh37)
Canonical SPDI:: NC_000003.12:31999359:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:31999359:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:31999359:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:31999359:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:31999359:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:31999359:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:31999359:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:31999359:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:31999359:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:31999359:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:31999359:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:31999359:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:31999359:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: OSBPL10 (Varview), ZNF860 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000003.12:g.31999375_31999378del, NC_000003.12:g.31999376_31999378del, NC_000003.12:g.31999377_31999378del, NC_000003.12:g.31999378del, NC_000003.12:g.31999378dup, NC_000003.12:g.31999377_31999378dup, NC_000003.12:g.31999376_31999378dup, NC_000003.12:g.31999375_31999378dup, NC_000003.12:g.31999374_31999378dup, NC_000003.12:g.31999373_31999378dup, NC_000003.12:g.31999372_31999378dup, NC_000003.12:g.31999370_31999378dup, NC_000003.12:g.31999369_31999378dup, NC_000003.11:g.32040867_32040870del, NC_000003.11:g.32040868_32040870del, NC_000003.11:g.32040869_32040870del, NC_000003.11:g.32040870del, NC_000003.11:g.32040870dup, NC_000003.11:g.32040869_32040870dup, NC_000003.11:g.32040868_32040870dup, NC_000003.11:g.32040867_32040870dup, NC_000003.11:g.32040866_32040870dup, NC_000003.11:g.32040865_32040870dup, NC_000003.11:g.32040864_32040870dup, NC_000003.11:g.32040862_32040870dup, NC_000003.11:g.32040861_32040870dup

Select item 14910551995.

rs1491055199 has merged into rs139678560 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA [Show Flanks]
Chromosome:: 3:31993697 (GRCh38)
3:32035189 (GRCh37)
Canonical SPDI:: NC_000003.12:31993681:ACACACACACACACACACACACACA:ACACACACACACACA,NC_000003.12:31993681:ACACACACACACACACACACACACA:ACACACACACACACACA,NC_000003.12:31993681:ACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000003.12:31993681:ACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000003.12:31993681:ACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000003.12:31993681:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000003.12:31993681:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000003.12:31993681:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000003.12:31993681:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000003.12:31993681:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000003.12:31993681:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA
Gene:: OSBPL10 (Varview), ZNF860 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACA=0./0 (ALFA)
ACAC=0.125/1 (KOREAN)
HGVS:: NC_000003.12:g.31993683CA[7], NC_000003.12:g.31993683CA[8], NC_000003.12:g.31993683CA[9], NC_000003.12:g.31993683CA[10], NC_000003.12:g.31993683CA[11], NC_000003.12:g.31993683CA[13], NC_000003.12:g.31993683CA[14], NC_000003.12:g.31993683CA[15], NC_000003.12:g.31993683CA[16], NC_000003.12:g.31993683CA[17], NC_000003.12:g.31993683CA[18], NC_000003.11:g.32035175CA[7], NC_000003.11:g.32035175CA[8], NC_000003.11:g.32035175CA[9], NC_000003.11:g.32035175CA[10], NC_000003.11:g.32035175CA[11], NC_000003.11:g.32035175CA[13], NC_000003.11:g.32035175CA[14], NC_000003.11:g.32035175CA[15], NC_000003.11:g.32035175CA[16], NC_000003.11:g.32035175CA[17], NC_000003.11:g.32035175CA[18]

Select item 14907469136.

rs1490746913 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:31994469 (GRCh38)
3:32035961 (GRCh37)
Canonical SPDI:: NC_000003.12:31994468:G:T
Gene:: OSBPL10 (Varview), ZNF860 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.31994469G>T, NC_000003.11:g.32035961G>T

Select item 14906116827.

rs1490611682 [Homo sapiens]

Variant type:: SNV:
Alleles:: C>T
Chromosome:: no mapping
Canonical SPDI:

Select item 14905455398.

rs1490545539 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:31980535 (GRCh38)
3:32022027 (GRCh37)
Canonical SPDI:: NC_000003.12:31980534:C:T
Gene:: OSBPL10 (Varview), ZNF860 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000003.12:g.31980535C>T, NC_000003.11:g.32022027C>T

Select item 14905103119.

rs1490510311 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:31987664 (GRCh38)
3:32029156 (GRCh37)
Canonical SPDI:: NC_000003.12:31987663:G:A
Gene:: OSBPL10 (Varview), ZNF860 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,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_000003.12:g.31987664G>A, NC_000003.11:g.32029156G>A, XM_047448073.1:c.-1416G>A

Select item 149048476010.

rs1490484760 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:31988759 (GRCh38)
3:32030251 (GRCh37)
Canonical SPDI:: NC_000003.12:31988758:C:T
Gene:: OSBPL10 (Varview), ZNF860 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000003.12:g.31988759C>T, NC_000003.11:g.32030251C>T, NM_001137674.3:c.-321C>T, NM_001137674.2:c.-321C>T, XM_047448073.1:c.-321C>T, XM_047448072.1:c.-321C>T, XM_047448074.1:c.-321C>T

Select item 149048327311.

rs1490483273 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:32003190 (GRCh38)
3:32044682 (GRCh37)
Canonical SPDI:: NC_000003.12:32003189:C:T
Gene:: OSBPL10 (Varview), ZNF860 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.00005/7 (GnomAD)
HGVS:: NC_000003.12:g.32003190C>T, NC_000003.11:g.32044682C>T, XR_001740138.2:n.2296C>T, XR_001740138.1:n.2296C>T, XR_007095674.1:n.3061C>T

Select item 149026021112.

rs1490260211 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 3:31993899 (GRCh38)
3:32035391 (GRCh37)
Canonical SPDI:: NC_000003.12:31993898:C:
Gene:: OSBPL10 (Varview), ZNF860 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.31993899del, NC_000003.11:g.32035391del

Select item 149013401013.

rs1490134010 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:32001849 (GRCh38)
3:32043341 (GRCh37)
Canonical SPDI:: NC_000003.12:32001848:C:T
Gene:: OSBPL10 (Varview), ZNF860 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.001027/3 (KOREAN)
T=0.002183/4 (Korea1K)
T=0.011077/186 (TOMMO)
HGVS:: NC_000003.12:g.32001849C>T, NC_000003.11:g.32043341C>T

Select item 149001920914.

rs1490019209 has merged into rs71628591 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACA>-,CA,CACACA,CACACACA,CACACACACA [Show Flanks]
Chromosome:: 3:31987131 (GRCh38)
3:32028623 (GRCh37)
Canonical SPDI:: NC_000003.12:31987115:ACACACACACACACACACA:ACACACACACACACA,NC_000003.12:31987115:ACACACACACACACACACA:ACACACACACACACACA,NC_000003.12:31987115:ACACACACACACACACACA:ACACACACACACACACACACA,NC_000003.12:31987115:ACACACACACACACACACA:ACACACACACACACACACACACA,NC_000003.12:31987115:ACACACACACACACACACA:ACACACACACACACACACACACACA
Gene:: OSBPL10 (Varview), ZNF860 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACACACACACA=0./0 (ALFA)
AC=0.003294/872 (TOPMED)
-=0.15/6 (GENOME_DK)
-=0.235849/50 (Vietnamese)
-=0.392772/1967 (1000Genomes)
HGVS:: NC_000003.12:g.31987117CA[7], NC_000003.12:g.31987117CA[8], NC_000003.12:g.31987117CA[10], NC_000003.12:g.31987117CA[11], NC_000003.12:g.31987117CA[12], NC_000003.11:g.32028609CA[7], NC_000003.11:g.32028609CA[8], NC_000003.11:g.32028609CA[10], NC_000003.11:g.32028609CA[11], NC_000003.11:g.32028609CA[12], XM_047448073.1:c.-1963CA[7], XM_047448073.1:c.-1963CA[8], XM_047448073.1:c.-1963CA[10], XM_047448073.1:c.-1963CA[11], XM_047448073.1:c.-1963CA[12]

Select item 148997021115.

rs1489970211 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:32002385 (GRCh38)
3:32043877 (GRCh37)
Canonical SPDI:: NC_000003.12:32002384:A:G
Gene:: OSBPL10 (Varview), ZNF860 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_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_000003.12:g.32002385A>G, NC_000003.11:g.32043877A>G, XR_001740138.2:n.1491A>G, XR_001740138.1:n.1491A>G, XR_007095674.1:n.2256A>G

Select item 148979217016.

rs1489792170 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:31985712 (GRCh38)
3:32027204 (GRCh37)
Canonical SPDI:: NC_000003.12:31985711:A:G
Gene:: OSBPL10 (Varview), ZNF860 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.31985712A>G, NC_000003.11:g.32027204A>G, XR_001740138.2:n.515A>G, XR_001740138.1:n.515A>G

Select item 148965451217.

rs1489654512 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:31990218 (GRCh38)
3:32031710 (GRCh37)
Canonical SPDI:: NC_000003.12:31990217:G:A
Gene:: OSBPL10 (Varview), ZNF860 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.31990218G>A, NC_000003.11:g.32031710G>A, NM_001137674.3:c.1139G>A, NM_001137674.2:c.1139G>A, XM_047448073.1:c.1139G>A, XM_047448072.1:c.1139G>A, XM_047448074.1:c.1139G>A, NP_001131146.2:p.Ser380Asn, XP_047304029.1:p.Ser380Asn, XP_047304028.1:p.Ser380Asn, XP_047304030.1:p.Ser380Asn

Select item 148929705218.

rs1489297052 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:31982028 (GRCh38)
3:32023520 (GRCh37)
Canonical SPDI:: NC_000003.12:31982027:A:C
Gene:: OSBPL10 (Varview), ZNF860 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.31982028A>C, NC_000003.11:g.32023520A>C

Select item 148929297319.

rs1489292973 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:31996882 (GRCh38)
3:32038374 (GRCh37)
Canonical SPDI:: NC_000003.12:31996881:G:A
Gene:: OSBPL10 (Varview), ZNF860 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.31996882G>A, NC_000003.11:g.32038374G>A

Select item 148926845920.

rs1489268459 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:31988652 (GRCh38)
3:32030144 (GRCh37)
Canonical SPDI:: NC_000003.12:31988651:A:G
Gene:: OSBPL10 (Varview), ZNF860 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,genic_upstream_transcript_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_000003.12:g.31988652A>G, NC_000003.11:g.32030144A>G, XM_047448073.1:c.-428A>G

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