SNP Links for Gene (Select 100302184) - SNP

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Links from Gene

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Select item 14915266671.

rs1491526667 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 15:64762540 (GRCh38)
15:65054739 (GRCh37)
Canonical SPDI:: NC_000015.10:64762539:CT:
Gene:: RBPMS2 (Varview), MIR1272 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000019/5 (TOPMED)
-=0.000041/10 (GnomAD_exomes)
-=0.000042/5 (ExAC)
HGVS:: NC_000015.10:g.64762540_64762541del, NC_000015.9:g.65054739_65054740del

Select item 14902316972.

rs1490231697 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:64763287 (GRCh38)
15:65055486 (GRCh37)
Canonical SPDI:: NC_000015.10:64763286:G:C
Gene:: RBPMS2 (Varview), MIR1272 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.64763287G>C, NC_000015.9:g.65055486G>C

Select item 14858392143.

rs1485839214 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 15:64762293 (GRCh38)
15:65054492 (GRCh37)
Canonical SPDI:: NC_000015.10:64762292:A:C,NC_000015.10:64762292:A:G
Gene:: RBPMS2 (Varview), MIR1272 (Varview)
Functional Consequence:: upstream_transcript_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.64762293A>C, NC_000015.10:g.64762293A>G, NC_000015.9:g.65054492A>C, NC_000015.9:g.65054492A>G

Select item 14830603404.

rs1483060340 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 15:64761956 (GRCh38)
15:65054155 (GRCh37)
Canonical SPDI:: NC_000015.10:64761955:C:G,NC_000015.10:64761955:C:T
Gene:: RBPMS2 (Varview), MIR1272 (Varview)
Functional Consequence:: upstream_transcript_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000094/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000043/6 (GnomAD)
G=0.000212/4 (TOMMO)
HGVS:: NC_000015.10:g.64761956C>G, NC_000015.10:g.64761956C>T, NC_000015.9:g.65054155C>G, NC_000015.9:g.65054155C>T

Select item 14822027945.

rs1482202794 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:64763049 (GRCh38)
15:65055248 (GRCh37)
Canonical SPDI:: NC_000015.10:64763048:T:C
Gene:: RBPMS2 (Varview), MIR1272 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000009/1 (GnomAD)
HGVS:: NC_000015.10:g.64763049T>C, NC_000015.9:g.65055248T>C

Select item 14814295806.

rs1481429580 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:64762861 (GRCh38)
15:65055060 (GRCh37)
Canonical SPDI:: NC_000015.10:64762860:C:T
Gene:: RBPMS2 (Varview), MIR1272 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000015.10:g.64762861C>T, NC_000015.9:g.65055060C>T

Select item 14796516007.

rs1479651600 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:64762480 (GRCh38)
15:65054679 (GRCh37)
Canonical SPDI:: NC_000015.10:64762479:T:G
Gene:: RBPMS2 (Varview), MIR1272 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000142/2 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.64762480T>G, NC_000015.9:g.65054679T>G, NR_031674.1:n.36A>C

Select item 14795319748.

rs1479531974 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 15:64762365 (GRCh38)
15:65054564 (GRCh37)
Canonical SPDI:: NC_000015.10:64762364:C:A,NC_000015.10:64762364:C:T
Gene:: RBPMS2 (Varview), MIR1272 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,downstream_transcript_variant
HGVS:: NC_000015.10:g.64762365C>A, NC_000015.10:g.64762365C>T, NC_000015.9:g.65054564C>A, NC_000015.9:g.65054564C>T

Select item 14794681449.

rs1479468144 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:64763661 (GRCh38)
15:65055860 (GRCh37)
Canonical SPDI:: NC_000015.10:64763660:C:A
Gene:: RBPMS2 (Varview), MIR1272 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.64763661C>A, NC_000015.9:g.65055860C>A

Select item 147696753610.

rs1476967536 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 15:64762641 (GRCh38)
15:65054840 (GRCh37)
Canonical SPDI:: NC_000015.10:64762640:A:C,NC_000015.10:64762640:A:T
Gene:: RBPMS2 (Varview), MIR1272 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.64762641A>C, NC_000015.10:g.64762641A>T, NC_000015.9:g.65054840A>C, NC_000015.9:g.65054840A>T

Select item 147668608911.

rs1476686089 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:64763517 (GRCh38)
15:65055716 (GRCh37)
Canonical SPDI:: NC_000015.10:64763516:C:G
Gene:: RBPMS2 (Varview), MIR1272 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_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_000015.10:g.64763517C>G, NC_000015.9:g.65055716C>G

Select item 147635571912.

rs1476355719 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 15:64762371 (GRCh38)
15:65054571 (GRCh37)
Canonical SPDI:: NC_000015.10:64762371::T
Gene:: RBPMS2 (Varview), MIR1272 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,downstream_transcript_variant
HGVS:: NC_000015.10:g.64762371_64762372insT, NC_000015.9:g.65054570_65054571insT

Select item 147523335613.

rs1475233356 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:64764039 (GRCh38)
15:65056238 (GRCh37)
Canonical SPDI:: NC_000015.10:64764038:T:C
Gene:: RBPMS2 (Varview), MIR1272 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.64764039T>C, NC_000015.9:g.65056238T>C

Select item 147387988914.

rs1473879889 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>-,GTGT [Show Flanks]
Chromosome:: 15:64763808 (GRCh38)
15:65056007 (GRCh37)
Canonical SPDI:: NC_000015.10:64763797:GTGTGTGTGTGT:GTGTGTGTGT,NC_000015.10:64763797:GTGTGTGTGTGT:GTGTGTGTGTGTGT
Gene:: RBPMS2 (Varview), MIR1272 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.64763798GT[5], NC_000015.10:g.64763798GT[7], NC_000015.9:g.65055997GT[5], NC_000015.9:g.65055997GT[7]

Select item 147305343915.

rs1473053439 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 15:64764307 (GRCh38)
15:65056506 (GRCh37)
Canonical SPDI:: NC_000015.10:64764306:A:T
Gene:: RBPMS2 (Varview), MIR1272 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.64764307A>T, NC_000015.9:g.65056506A>T

Select item 147172674716.

rs1471726747 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:64762354 (GRCh38)
15:65054553 (GRCh37)
Canonical SPDI:: NC_000015.10:64762353:G:A
Gene:: RBPMS2 (Varview), MIR1272 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.013889/1 (GnomAD)
HGVS:: NC_000015.10:g.64762354G>A, NC_000015.9:g.65054553G>A

Select item 146596364117.

rs1465963641 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:64763244 (GRCh38)
15:65055443 (GRCh37)
Canonical SPDI:: NC_000015.10:64763243:A:G
Gene:: RBPMS2 (Varview), MIR1272 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000342/1 (KOREAN)
HGVS:: NC_000015.10:g.64763244A>G, NC_000015.9:g.65055443A>G

Select item 146275940618.

rs1462759406 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGAC>- [Show Flanks]
Chromosome:: 15:64762287 (GRCh38)
15:65054486 (GRCh37)
Canonical SPDI:: NC_000015.10:64762279:GACTGACTGAC:GACTGAC
Gene:: RBPMS2 (Varview), MIR1272 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GACTGAC=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000035/1 (TOMMO)
HGVS:: NC_000015.10:g.64762283TGAC[1], NC_000015.9:g.65054482TGAC[1]

Select item 146210918619.

rs1462109186 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:64762693 (GRCh38)
15:65054892 (GRCh37)
Canonical SPDI:: NC_000015.10:64762692:C:T
Gene:: RBPMS2 (Varview), MIR1272 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.64762693C>T, NC_000015.9:g.65054892C>T

Select item 146178541320.

rs1461785413 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 15:64762376 (GRCh38)
15:65054575 (GRCh37)
Canonical SPDI:: NC_000015.10:64762375:C:A,NC_000015.10:64762375:C:T
Gene:: RBPMS2 (Varview), MIR1272 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,downstream_transcript_variant
HGVS:: NC_000015.10:g.64762376C>A, NC_000015.10:g.64762376C>T, NC_000015.9:g.65054575C>A, NC_000015.9:g.65054575C>T