SNP Links for Nucleotide (Select 269847376) - SNP

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Links from Nucleotide

Items: 1 to 20 of 53

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Select item 14796516001.

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 14592517422.

rs1459251742 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:64762493 (GRCh38)
15:65054692 (GRCh37)
Canonical SPDI:: NC_000015.10:64762492:C:G
Gene:: RBPMS2 (Varview), MIR1272 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.64762493C>G, NC_000015.9:g.65054692C>G, NR_031674.1:n.23G>C

Select item 14351598223.

rs1435159822 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 15:64762437 (GRCh38)
15:65054636 (GRCh37)
Canonical SPDI:: NC_000015.10:64762436:T:A
Gene:: RBPMS2 (Varview), MIR1272 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.64762437T>A, NC_000015.9:g.65054636T>A, NR_031674.1:n.79A>T

Select item 14176122244.

rs1417612224 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:64762414 (GRCh38)
15:65054613 (GRCh37)
Canonical SPDI:: NC_000015.10:64762413:G:A
Gene:: RBPMS2 (Varview), MIR1272 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.64762414G>A, NC_000015.9:g.65054613G>A, NR_031674.1:n.102C>T

Select item 14109913585.

rs1410991358 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:64762431 (GRCh38)
15:65054630 (GRCh37)
Canonical SPDI:: NC_000015.10:64762430:T:C
Gene:: RBPMS2 (Varview), MIR1272 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.64762431T>C, NC_000015.9:g.65054630T>C, NR_031674.1:n.85A>G

Select item 14047906016.

rs1404790601 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:64762430 (GRCh38)
15:65054629 (GRCh37)
Canonical SPDI:: NC_000015.10:64762429:C:T
Gene:: RBPMS2 (Varview), MIR1272 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.64762430C>T, NC_000015.9:g.65054629C>T, NR_031674.1:n.86G>A

Select item 13895145587.

rs1389514558 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:64762434 (GRCh38)
15:65054633 (GRCh37)
Canonical SPDI:: NC_000015.10:64762433:G:A
Gene:: RBPMS2 (Varview), MIR1272 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.64762434G>A, NC_000015.9:g.65054633G>A, NR_031674.1:n.82C>T

Select item 13812575968.

rs1381257596 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 15:64762449 (GRCh38)
15:65054648 (GRCh37)
Canonical SPDI:: NC_000015.10:64762448:G:A,NC_000015.10:64762448:G:T
Gene:: RBPMS2 (Varview), MIR1272 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.64762449G>A, NC_000015.10:g.64762449G>T, NC_000015.9:g.65054648G>A, NC_000015.9:g.65054648G>T, NR_031674.1:n.67C>T, NR_031674.1:n.67C>A

Select item 13796746879.

rs1379674687 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:64762423 (GRCh38)
15:65054622 (GRCh37)
Canonical SPDI:: NC_000015.10:64762422:T:C
Gene:: RBPMS2 (Varview), MIR1272 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.64762423T>C, NC_000015.9:g.65054622T>C, NR_031674.1:n.93A>G

Select item 135460818410.

rs1354608184 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:64762418 (GRCh38)
15:65054617 (GRCh37)
Canonical SPDI:: NC_000015.10:64762417:C:A
Gene:: RBPMS2 (Varview), MIR1272 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.64762418C>A, NC_000015.9:g.65054617C>A, NR_031674.1:n.98G>T

Select item 134287442011.

rs1342874420 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:64762497 (GRCh38)
15:65054696 (GRCh37)
Canonical SPDI:: NC_000015.10:64762496:G:A
Gene:: RBPMS2 (Varview), MIR1272 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000015.10:g.64762497G>A, NC_000015.9:g.65054696G>A, NR_031674.1:n.19C>T

Select item 132998475512.

rs1329984755 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:64762462 (GRCh38)
15:65054661 (GRCh37)
Canonical SPDI:: NC_000015.10:64762461:T:C
Gene:: RBPMS2 (Varview), MIR1272 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
C=0.000049/13 (TOPMED)
HGVS:: NC_000015.10:g.64762462T>C, NC_000015.9:g.65054661T>C, NR_031674.1:n.54A>G

Select item 130914713413.

rs1309147134 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:64762397 (GRCh38)
15:65054596 (GRCh37)
Canonical SPDI:: NC_000015.10:64762396:G:C
Gene:: RBPMS2 (Varview), MIR1272 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_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_000015.10:g.64762397G>C, NC_000015.9:g.65054596G>C, NR_031674.1:n.119C>G

Select item 130559662214.

rs1305596622 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCAGACCACAGAGC [Show Flanks]
Chromosome:: 15:64762390 (GRCh38)
15:65054590 (GRCh37)
Canonical SPDI:: NC_000015.10:64762390:AGCCCAGACCACAGAGC:AGCCCAGACCACAGAGCCCAGACCACAGAGC
Gene:: RBPMS2 (Varview), MIR1272 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AGCCCAGACCACAGAGCCCAGACCACAGAGC=0./0 (ALFA)
AGCCCAGACCACAG=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.64762394_64762407dup, NC_000015.9:g.65054593_65054606dup, NR_031674.1:n.112_125dup

Select item 129725527515.

rs1297255275 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:64762389 (GRCh38)
15:65054588 (GRCh37)
Canonical SPDI:: NC_000015.10:64762388:C:A
Gene:: RBPMS2 (Varview), MIR1272 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
HGVS:: NC_000015.10:g.64762389C>A, NC_000015.9:g.65054588C>A, NR_031674.1:n.127G>T

Select item 129374861416.

rs1293748614 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:64762501 (GRCh38)
15:65054700 (GRCh37)
Canonical SPDI:: NC_000015.10:64762500:C:T
Gene:: RBPMS2 (Varview), MIR1272 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.64762501C>T, NC_000015.9:g.65054700C>T, NR_031674.1:n.15G>A

Select item 128260937617.

rs1282609376 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:64762506 (GRCh38)
15:65054705 (GRCh37)
Canonical SPDI:: NC_000015.10:64762505:T:G
Gene:: RBPMS2 (Varview), MIR1272 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.64762506T>G, NC_000015.9:g.65054705T>G, NR_031674.1:n.10A>C

Select item 126934643018.

rs1269346430 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:64762483 (GRCh38)
15:65054682 (GRCh37)
Canonical SPDI:: NC_000015.10:64762482:C:T
Gene:: RBPMS2 (Varview), MIR1272 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.64762483C>T, NC_000015.9:g.65054682C>T, NR_031674.1:n.33G>A

Select item 124037835619.

rs1240378356 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:64762465 (GRCh38)
15:65054664 (GRCh37)
Canonical SPDI:: NC_000015.10:64762464:G:A
Gene:: RBPMS2 (Varview), MIR1272 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000015.10:g.64762465G>A, NC_000015.9:g.65054664G>A, NR_031674.1:n.51C>T

Select item 122638429120.

rs1226384291 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:64762392 (GRCh38)
15:65054591 (GRCh37)
Canonical SPDI:: NC_000015.10:64762391:G:A
Gene:: RBPMS2 (Varview), MIR1272 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000015.10:g.64762392G>A, NC_000015.9:g.65054591G>A, NR_031674.1:n.124C>T