SNP Links for Gene (Select 91694) - SNP

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Select item 14913929661.

rs1491392966 has merged into rs71205087 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT [Show Flanks]
Chromosome:: 8:12747770 (GRCh38)
8:12605279 (GRCh37)
Canonical SPDI:: NC_000008.11:12747756:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:12747756:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:12747756:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:12747756:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:12747756:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:12747756:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:12747756:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
Gene:: LONRF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.025/1 (GENOME_DK)
-=0.0385/7 (NorthernSweden)
-=0.0398/73 (Korea1K)
HGVS:: NC_000008.11:g.12747770_12747774del, NC_000008.11:g.12747771_12747774del, NC_000008.11:g.12747772_12747774del, NC_000008.11:g.12747773_12747774del, NC_000008.11:g.12747774del, NC_000008.11:g.12747774dup, NC_000008.11:g.12747773_12747774dup, NC_000008.10:g.12605279_12605283del, NC_000008.10:g.12605280_12605283del, NC_000008.10:g.12605281_12605283del, NC_000008.10:g.12605282_12605283del, NC_000008.10:g.12605283del, NC_000008.10:g.12605283dup, NC_000008.10:g.12605282_12605283dup, NW_018654717.1:g.5943108delinsTT, NW_018654717.1:g.5943108_5943111del, NW_018654717.1:g.5943108_5943110del, NW_018654717.1:g.5943108_5943109del, NW_018654717.1:g.5943108del, NW_018654717.1:g.5943108C>T, NW_018654717.1:g.5943108delinsTTT, NW_018654717.1:g.5943108delinsTTTT

Select item 14911726442.

rs1491172644 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 8:12747757 (GRCh38)
8:12605267 (GRCh37)
Canonical SPDI:: NC_000008.11:12747757::C
Gene:: LONRF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.0011/4 (GnomAD)
HGVS:: NC_000008.11:g.12747757_12747758insC, NC_000008.10:g.12605266_12605267insC, NW_018654717.1:g.5943100dup

Select item 14910841193.

rs1491084119 has merged into rs35823658 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 8:12739350 (GRCh38)
8:12596859 (GRCh37)
Canonical SPDI:: NC_000008.11:12739341:AAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000008.11:12739341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:12739341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:12739341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:12739341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:12739341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:12739341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:12739341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:12739341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:12739341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:12739341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:12739341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LONRF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000008.11:g.12739350_12739359del, NC_000008.11:g.12739356_12739359del, NC_000008.11:g.12739357_12739359del, NC_000008.11:g.12739358_12739359del, NC_000008.11:g.12739359del, NC_000008.11:g.12739359dup, NC_000008.11:g.12739358_12739359dup, NC_000008.11:g.12739357_12739359dup, NC_000008.11:g.12739356_12739359dup, NC_000008.11:g.12739355_12739359dup, NC_000008.11:g.12739354_12739359dup, NC_000008.11:g.12739359_12739360insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.12596859_12596868del, NC_000008.10:g.12596865_12596868del, NC_000008.10:g.12596866_12596868del, NC_000008.10:g.12596867_12596868del, NC_000008.10:g.12596868del, NC_000008.10:g.12596868dup, NC_000008.10:g.12596867_12596868dup, NC_000008.10:g.12596866_12596868dup, NC_000008.10:g.12596865_12596868dup, NC_000008.10:g.12596864_12596868dup, NC_000008.10:g.12596863_12596868dup, NC_000008.10:g.12596868_12596869insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NW_018654717.1:g.5934700_5934709del, NW_018654717.1:g.5934706_5934709del, NW_018654717.1:g.5934707_5934709del, NW_018654717.1:g.5934708_5934709del, NW_018654717.1:g.5934709del, NW_018654717.1:g.5934709dup, NW_018654717.1:g.5934708_5934709dup, NW_018654717.1:g.5934707_5934709dup, NW_018654717.1:g.5934706_5934709dup, NW_018654717.1:g.5934705_5934709dup, NW_018654717.1:g.5934704_5934709dup, NW_018654717.1:g.5934709_5934710insAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14910612934.

rs1491061293 has merged into rs368812604 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 8:12727130 (GRCh38)
8:12584639 (GRCh37)
Canonical SPDI:: NC_000008.11:12727119:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000008.11:12727119:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:12727119:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:12727119:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:12727119:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:12727119:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:12727119:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:12727119:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:12727119:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:12727119:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:12727119:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:12727119:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:12727119:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:12727119:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: LONRF1 (Varview), MIR3926-2 (Varview), MIR3926-1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.4375/2191 (1000Genomes)
HGVS:: NC_000008.11:g.12727130_12727137del, NC_000008.11:g.12727133_12727137del, NC_000008.11:g.12727134_12727137del, NC_000008.11:g.12727135_12727137del, NC_000008.11:g.12727136_12727137del, NC_000008.11:g.12727137del, NC_000008.11:g.12727137dup, NC_000008.11:g.12727136_12727137dup, NC_000008.11:g.12727135_12727137dup, NC_000008.11:g.12727134_12727137dup, NC_000008.11:g.12727133_12727137dup, NC_000008.11:g.12727131_12727137dup, NC_000008.11:g.12727120_12727137dup, NC_000008.11:g.12727137_12727138insTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.12584639_12584646del, NC_000008.10:g.12584642_12584646del, NC_000008.10:g.12584643_12584646del, NC_000008.10:g.12584644_12584646del, NC_000008.10:g.12584645_12584646del, NC_000008.10:g.12584646del, NC_000008.10:g.12584646dup, NC_000008.10:g.12584645_12584646dup, NC_000008.10:g.12584644_12584646dup, NC_000008.10:g.12584643_12584646dup, NC_000008.10:g.12584642_12584646dup, NC_000008.10:g.12584640_12584646dup, NC_000008.10:g.12584629_12584646dup, NC_000008.10:g.12584646_12584647insTTTTTTTTTTTTTTTTTTT, NW_018654717.1:g.5922478_5922485del, NW_018654717.1:g.5922481_5922485del, NW_018654717.1:g.5922482_5922485del, NW_018654717.1:g.5922483_5922485del, NW_018654717.1:g.5922484_5922485del, NW_018654717.1:g.5922485del, NW_018654717.1:g.5922485dup, NW_018654717.1:g.5922484_5922485dup, NW_018654717.1:g.5922483_5922485dup, NW_018654717.1:g.5922482_5922485dup, NW_018654717.1:g.5922481_5922485dup, NW_018654717.1:g.5922479_5922485dup, NW_018654717.1:g.5922468_5922485dup, NW_018654717.1:g.5922467_5922485dup

Select item 14910512415.

rs1491051241 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 8:12731454 (GRCh38)
8:12588964 (GRCh37)
Canonical SPDI:: NC_000008.11:12731454:T:TT
Gene:: LONRF1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.12731455dup, NC_000008.10:g.12588964dup, NW_018654717.1:g.5926806dup

Select item 14909985246.

rs1490998524 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:12735329 (GRCh38)
8:12592838 (GRCh37)
Canonical SPDI:: NC_000008.11:12735328:T:A
Gene:: LONRF1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.12735329T>A, NC_000008.10:g.12592838T>A, NW_018654717.1:g.5930679T>A, NM_152271.5:c.1523A>T, NM_152271.4:c.1523A>T, NM_152271.3:c.1523A>T, XM_011544694.4:c.830A>T, XM_011544694.3:c.830A>T, XM_011544694.2:c.830A>T, XM_011544694.1:c.830A>T, NM_001329976.2:c.1490A>T, NM_001329976.1:c.1490A>T, NR_138255.2:n.1629A>T, NR_138255.1:n.1545A>T, NR_138256.1:n.1512A>T, NR_138256.2:n.1596A>T, XM_047422414.1:c.797A>T, NP_689484.3:p.Asp508Val, XP_011542996.1:p.Asp277Val, NP_001316905.1:p.Asp497Val, XP_047278370.1:p.Asp266Val

Select item 14909771947.

rs1490977194 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:12747798 (GRCh38)
8:12605307 (GRCh37)
Canonical SPDI:: NC_000008.11:12747797:A:G
Gene:: LONRF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.12747798A>G, NC_000008.10:g.12605307A>G, NW_018654717.1:g.5943141A>G

Select item 14908920648.

rs1490892064 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCAA>- [Show Flanks]
Chromosome:: 8:12756822 (GRCh38)
8:12614331 (GRCh37)
Canonical SPDI:: NC_000008.11:12756818:CAATCAA:CAA
Gene:: LONRF1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.12756822_12756825del, NC_000008.10:g.12614331_12614334del, NW_018654717.1:g.5952185_5952188del

Select item 14907423679.

rs1490742367 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTT>- [Show Flanks]
Chromosome:: 8:12752164 (GRCh38)
8:12609673 (GRCh37)
Canonical SPDI:: NC_000008.11:12752162:TCTT:T
Gene:: LONRF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.12752164_12752166del, NC_000008.10:g.12609673_12609675del, NW_018654717.1:g.5947527_5947529del

Select item 149059555610.

rs1490595556 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:12725547 (GRCh38)
8:12583056 (GRCh37)
Canonical SPDI:: NC_000008.11:12725546:G:A
Gene:: LONRF1 (Varview), MIR3926-2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000008.11:g.12725547G>A, NC_000008.10:g.12583056G>A, NW_018654717.1:g.5920894G>A

Select item 149058124211.

rs1490581242 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 8:12752561 (GRCh38)
8:12610070 (GRCh37)
Canonical SPDI:: NC_000008.11:12752560:T:C,NC_000008.11:12752560:T:G
Gene:: LONRF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.12752561T>C, NC_000008.11:g.12752561T>G, NC_000008.10:g.12610070T>C, NC_000008.10:g.12610070T>G, NW_018654717.1:g.5947924T>C, NW_018654717.1:g.5947924T>G

Select item 149047827512.

rs1490478275 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:12731240 (GRCh38)
8:12588749 (GRCh37)
Canonical SPDI:: NC_000008.11:12731239:C:A
Gene:: LONRF1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_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_000008.11:g.12731240C>A, NC_000008.10:g.12588749C>A, NW_018654717.1:g.5926591C>A

Select item 149047020113.

rs1490470201 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:12742046 (GRCh38)
8:12599555 (GRCh37)
Canonical SPDI:: NC_000008.11:12742045:T:C
Gene:: LONRF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.12742046T>C, NC_000008.10:g.12599555T>C, NW_018654717.1:g.5937395T>C

Select item 149039878614.

rs1490398786 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:12754287 (GRCh38)
8:12611796 (GRCh37)
Canonical SPDI:: NC_000008.11:12754286:G:A
Gene:: LONRF1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000036/5 (GnomAD)
A=0.000042/11 (TOPMED)
HGVS:: NC_000008.11:g.12754287G>A, NC_000008.10:g.12611796G>A, NW_018654717.1:g.5949650G>A, XM_011544694.4:c.-347C>T, XM_011544694.3:c.-347C>T, XM_011544694.2:c.-347C>T, XM_011544694.1:c.-347C>T, XM_047422414.1:c.-347C>T

Select item 149036821415.

rs1490368214 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:12755603 (GRCh38)
8:12613112 (GRCh37)
Canonical SPDI:: NC_000008.11:12755602:C:G,NC_000008.11:12755602:C:T
Gene:: LONRF1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000008.11:g.12755603C>G, NC_000008.11:g.12755603C>T, NC_000008.10:g.12613112C>G, NC_000008.10:g.12613112C>T, NW_018654717.1:g.5950966C>G, NW_018654717.1:g.5950966C>T

Select item 149025063016.

rs1490250630 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:12751756 (GRCh38)
8:12609265 (GRCh37)
Canonical SPDI:: NC_000008.11:12751755:G:C
Gene:: LONRF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.12751756G>C, NC_000008.10:g.12609265G>C, NW_018654717.1:g.5947119G>C

Select item 149020345917.

rs1490203459 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 8:12756099 (GRCh38)
8:12613608 (GRCh37)
Canonical SPDI:: NC_000008.11:12756098:A:G,NC_000008.11:12756098:A:T
Gene:: LONRF1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00005/1 (ALFA)
T=0.00022/1 (Estonian)
HGVS:: NC_000008.11:g.12756099A>G, NC_000008.11:g.12756099A>T, NC_000008.10:g.12613608A>G, NC_000008.10:g.12613608A>T, NW_018654717.1:g.5951462A>G, NW_018654717.1:g.5951462A>T

Select item 149019992618.

rs1490199926 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:12752570 (GRCh38)
8:12610079 (GRCh37)
Canonical SPDI:: NC_000008.11:12752569:G:A
Gene:: LONRF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00011/2 (TOMMO)
HGVS:: NC_000008.11:g.12752570G>A, NC_000008.10:g.12610079G>A, NW_018654717.1:g.5947933G>A

Select item 149001306419.

rs1490013064 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:12730148 (GRCh38)
8:12587657 (GRCh37)
Canonical SPDI:: NC_000008.11:12730147:A:G
Gene:: LONRF1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.12730148A>G, NC_000008.10:g.12587657A>G, NW_018654717.1:g.5925499A>G

Select item 148998713720.

rs1489987137 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:12730872 (GRCh38)
8:12588381 (GRCh37)
Canonical SPDI:: NC_000008.11:12730871:C:T
Gene:: LONRF1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000008.11:g.12730872C>T, NC_000008.10:g.12588381C>T, NW_018654717.1:g.5926223C>T

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