SNP Links for Gene (Select 105371083) - SNP

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Select item 14913741441.

rs1491374144 has merged into rs34200974 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 16:11343800 (GRCh38)
16:11437657 (GRCh37)
Canonical SPDI:: NC_000016.10:11343790:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000016.10:11343790:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000016.10:11343790:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:11343790:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:11343790:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:11343790:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:11343790:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:11343790:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:11343790:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:11343790:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:11343790:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:11343790:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:11343790:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:11343790:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:11343790:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RMI2 (Varview), LOC105371082 (Varview), LOC105371083 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000016.10:g.11343800_11343811del, NC_000016.10:g.11343801_11343811del, NC_000016.10:g.11343804_11343811del, NC_000016.10:g.11343805_11343811del, NC_000016.10:g.11343806_11343811del, NC_000016.10:g.11343807_11343811del, NC_000016.10:g.11343808_11343811del, NC_000016.10:g.11343809_11343811del, NC_000016.10:g.11343810_11343811del, NC_000016.10:g.11343811del, NC_000016.10:g.11343811dup, NC_000016.10:g.11343810_11343811dup, NC_000016.10:g.11343809_11343811dup, NC_000016.10:g.11343808_11343811dup, NC_000016.10:g.11343806_11343811dup, NC_000016.9:g.11437657_11437668del, NC_000016.9:g.11437658_11437668del, NC_000016.9:g.11437661_11437668del, NC_000016.9:g.11437662_11437668del, NC_000016.9:g.11437663_11437668del, NC_000016.9:g.11437664_11437668del, NC_000016.9:g.11437665_11437668del, NC_000016.9:g.11437666_11437668del, NC_000016.9:g.11437667_11437668del, NC_000016.9:g.11437668del, NC_000016.9:g.11437668dup, NC_000016.9:g.11437667_11437668dup, NC_000016.9:g.11437666_11437668dup, NC_000016.9:g.11437665_11437668dup, NC_000016.9:g.11437663_11437668dup

Select item 14912714542.

rs1491271454 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 16:11343790 (GRCh38)
16:11437647 (GRCh37)
Canonical SPDI:: NC_000016.10:11343789:CA:
Gene:: RMI2 (Varview), LOC105371082 (Varview), LOC105371083 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00219/26 (ALFA)
HGVS:: NC_000016.10:g.11343790_11343791del, NC_000016.9:g.11437647_11437648del

Select item 14898037693.

rs1489803769 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:11347079 (GRCh38)
16:11440936 (GRCh37)
Canonical SPDI:: NC_000016.10:11347078:C:T
Gene:: RMI2 (Varview), LOC105371082 (Varview), LOC105371083 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000061/1 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000016.10:g.11347079C>T, NC_000016.9:g.11440936C>T

Select item 14895291984.

rs1489529198 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:11343044 (GRCh38)
16:11436901 (GRCh37)
Canonical SPDI:: NC_000016.10:11343043:C:T
Gene:: LOC105371082 (Varview), LOC105371083 (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)
T=0.000035/1 (TOMMO)
HGVS:: NC_000016.10:g.11343044C>T, NC_000016.9:g.11436901C>T

Select item 14888243995.

rs1488824399 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:11341616 (GRCh38)
16:11435473 (GRCh37)
Canonical SPDI:: NC_000016.10:11341615:G:A
Gene:: LOC105371082 (Varview), LOC105371083 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.11341616G>A, NC_000016.9:g.11435473G>A

Select item 14887307666.

rs1488730766 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:11344709 (GRCh38)
16:11438566 (GRCh37)
Canonical SPDI:: NC_000016.10:11344708:T:C
Gene:: RMI2 (Varview), LOC105371082 (Varview), LOC105371083 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000016.10:g.11344709T>C, NC_000016.9:g.11438566T>C

Select item 14886403717.

rs1488640371 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:11342461 (GRCh38)
16:11436318 (GRCh37)
Canonical SPDI:: NC_000016.10:11342460:C:G,NC_000016.10:11342460:C:T
Gene:: LOC105371082 (Varview), LOC105371083 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.11342461C>G, NC_000016.10:g.11342461C>T, NC_000016.9:g.11436318C>G, NC_000016.9:g.11436318C>T

Select item 14884214988.

rs1488421498 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:11342229 (GRCh38)
16:11436086 (GRCh37)
Canonical SPDI:: NC_000016.10:11342228:C:G
Gene:: LOC105371082 (Varview), LOC105371083 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.11342229C>G, NC_000016.9:g.11436086C>G, NR_135174.1:n.295G>C

Select item 14879547959.

rs1487954795 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:11345954 (GRCh38)
16:11439811 (GRCh37)
Canonical SPDI:: NC_000016.10:11345953:G:C
Gene:: RMI2 (Varview), LOC105371082 (Varview), LOC105371083 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.11345954G>C, NC_000016.9:g.11439811G>C

Select item 148793793410.

rs1487937934 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:11346292 (GRCh38)
16:11440149 (GRCh37)
Canonical SPDI:: NC_000016.10:11346291:C:A,NC_000016.10:11346291:C:T
Gene:: RMI2 (Varview), LOC105371082 (Varview), LOC105371083 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
A=0.000283/8 (TOMMO)
HGVS:: NC_000016.10:g.11346292C>A, NC_000016.10:g.11346292C>T, NC_000016.9:g.11440149C>A, NC_000016.9:g.11440149C>T

Select item 148695860411.

rs1486958604 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:11346062 (GRCh38)
16:11439919 (GRCh37)
Canonical SPDI:: NC_000016.10:11346061:A:G
Gene:: RMI2 (Varview), LOC105371082 (Varview), LOC105371083 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000016.10:g.11346062A>G, NC_000016.9:g.11439919A>G

Select item 148626769012.

rs1486267690 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 16:11343304 (GRCh38)
16:11437162 (GRCh37)
Canonical SPDI:: NC_000016.10:11343304:GGGG:GGGGG
Gene:: LOC105371082 (Varview), LOC105371083 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.11343308dup, NC_000016.9:g.11437165dup

Select item 148540742013.

rs1485407420 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:11345301 (GRCh38)
16:11439158 (GRCh37)
Canonical SPDI:: NC_000016.10:11345300:G:T
Gene:: RMI2 (Varview), LOC105371082 (Varview), LOC105371083 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.11345301G>T, NC_000016.9:g.11439158G>T

Select item 148400277114.

rs1484002771 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 16:11342504 (GRCh38)
16:11436361 (GRCh37)
Canonical SPDI:: NC_000016.10:11342503:A:T
Gene:: LOC105371082 (Varview), LOC105371083 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.11342504A>T, NC_000016.9:g.11436361A>T

Select item 148399218015.

rs1483992180 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:11344156 (GRCh38)
16:11438013 (GRCh37)
Canonical SPDI:: NC_000016.10:11344155:G:A
Gene:: RMI2 (Varview), LOC105371082 (Varview), LOC105371083 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.11344156G>A, NC_000016.9:g.11438013G>A

Select item 148374613116.

rs1483746131 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:11345501 (GRCh38)
16:11439358 (GRCh37)
Canonical SPDI:: NC_000016.10:11345500:C:A,NC_000016.10:11345500:C:T
Gene:: RMI2 (Varview), LOC105371082 (Varview), LOC105371083 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
A=0.000223/1 (Estonian)
HGVS:: NC_000016.10:g.11345501C>A, NC_000016.10:g.11345501C>T, NC_000016.9:g.11439358C>A, NC_000016.9:g.11439358C>T, NM_152308.3:c.30C>A, NM_152308.3:c.30C>T, NM_152308.2:c.30C>A, NM_152308.2:c.30C>T, NM_152308.1:c.30C>A, NM_152308.1:c.30C>T, NR_130754.2:n.43C>A, NR_130754.2:n.43C>T, NR_130754.1:n.64C>A, NR_130754.1:n.64C>T

Select item 148308491917.

rs1483084919 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:11344215 (GRCh38)
16:11438072 (GRCh37)
Canonical SPDI:: NC_000016.10:11344214:C:T
Gene:: RMI2 (Varview), LOC105371082 (Varview), LOC105371083 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_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_000016.10:g.11344215C>T, NC_000016.9:g.11438072C>T

Select item 148242985418.

rs1482429854 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:11343608 (GRCh38)
16:11437465 (GRCh37)
Canonical SPDI:: NC_000016.10:11343607:T:C
Gene:: RMI2 (Varview), LOC105371082 (Varview), LOC105371083 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_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_000016.10:g.11343608T>C, NC_000016.9:g.11437465T>C

Select item 148215230419.

rs1482152304 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:11344641 (GRCh38)
16:11438498 (GRCh37)
Canonical SPDI:: NC_000016.10:11344640:G:A
Gene:: RMI2 (Varview), LOC105371082 (Varview), LOC105371083 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_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_000016.10:g.11344641G>A, NC_000016.9:g.11438498G>A

Select item 148151440320.

rs1481514403 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:11343289 (GRCh38)
16:11437146 (GRCh37)
Canonical SPDI:: NC_000016.10:11343288:A:C
Gene:: LOC105371082 (Varview), LOC105371083 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,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_000016.10:g.11343289A>C, NC_000016.9:g.11437146A>C

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