SNP Links for Gene (Select 118433) - SNP

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Select item 14908383261.

rs1490838326 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:113623694 (GRCh38)
2:114381271 (GRCh37)
Canonical SPDI:: NC_000002.12:113623693:C:T
Gene:: RPL23AP7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.113623694C>T, NC_000002.11:g.114381271C>T

Select item 14908107242.

rs1490810724 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:113621687 (GRCh38)
2:114379264 (GRCh37)
Canonical SPDI:: NC_000002.12:113621686:C:T
Gene:: RPL23AP7 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000002.12:g.113621687C>T, NC_000002.11:g.114379264C>T

Select item 14908030843.

rs1490803084 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACCCTAACCCCTAACCCTAA>- [Show Flanks]
Chromosome:: 2:113624616 (GRCh38)
2:114382193 (GRCh37)
Canonical SPDI:: NC_000002.12:113624600:AACCCCTAACCCTAAACCCTAACCCCTAACCCTAA:AACCCCTAACCCTAA
Gene:: RPL23AP7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AACCCCTAACCCTAA=0./0 (ALFA)
-=0.00034/27 (GnomAD)
HGVS:: NC_000002.12:g.113624616_113624635del, NC_000002.11:g.114382193_114382212del

Select item 14906916184.

rs1490691618 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 2:113619055 (GRCh38)
2:114376632 (GRCh37)
Canonical SPDI:: NC_000002.12:113619054:A:C,NC_000002.12:113619054:A:G
Gene:: RPL23AP7 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000015/2 (GnomAD)
HGVS:: NC_000002.12:g.113619055A>C, NC_000002.12:g.113619055A>G, NC_000002.11:g.114376632A>C, NC_000002.11:g.114376632A>G

Select item 14906081485.

rs1490608148 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:113616676 (GRCh38)
2:114374253 (GRCh37)
Canonical SPDI:: NC_000002.12:113616675:C:G,NC_000002.12:113616675:C:T
Gene:: RPL23AP7 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
HGVS:: NC_000002.12:g.113616676C>G, NC_000002.12:g.113616676C>T, NC_000002.11:g.114374253C>G, NC_000002.11:g.114374253C>T

Select item 14905370396.

rs1490537039 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:113617703 (GRCh38)
2:114375280 (GRCh37)
Canonical SPDI:: NC_000002.12:113617702:T:C
Gene:: RPL23AP7 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.113617703T>C, NC_000002.11:g.114375280T>C

Select item 14902984467.

rs1490298446 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:113625832 (GRCh38)
2:114383409 (GRCh37)
Canonical SPDI:: NC_000002.12:113625831:T:C
Gene:: RABL2A (Varview), RPL23AP7 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000071/2 (TOMMO)
HGVS:: NC_000002.12:g.113625832T>C, NC_000002.11:g.114383409T>C

Select item 14900605658.

rs1490060565 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 2:113618276 (GRCh38)
2:114375853 (GRCh37)
Canonical SPDI:: NC_000002.12:113618275:A:G,NC_000002.12:113618275:A:T
Gene:: RPL23AP7 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000002.12:g.113618276A>G, NC_000002.12:g.113618276A>T, NC_000002.11:g.114375853A>G, NC_000002.11:g.114375853A>T

Select item 14899944319.

rs1489994431 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGA>- [Show Flanks]
Chromosome:: 2:113620514 (GRCh38)
2:114378091 (GRCh37)
Canonical SPDI:: NC_000002.12:113620508:GAAGAAGA:GAAGA
Gene:: RPL23AP7 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAAGA=0.000071/1 (ALFA)
-=0.000049/13 (TOPMED)
-=0.00008/11 (GnomAD)
HGVS:: NC_000002.12:g.113620511AGA[1], NC_000002.11:g.114378088AGA[1]

Select item 148981964610.

rs1489819646 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:113625314 (GRCh38)
2:114382891 (GRCh37)
Canonical SPDI:: NC_000002.12:113625313:C:A,NC_000002.12:113625313:C:T
Gene:: RABL2A (Varview), RPL23AP7 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000034/9 (TOPMED)
HGVS:: NC_000002.12:g.113625314C>A, NC_000002.12:g.113625314C>T, NC_000002.11:g.114382891C>A, NC_000002.11:g.114382891C>T

Select item 148980833211.

rs1489808332 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:113626273 (GRCh38)
2:114383850 (GRCh37)
Canonical SPDI:: NC_000002.12:113626272:C:T
Gene:: RABL2A (Varview), RPL23AP7 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000002.12:g.113626273C>T, NC_000002.11:g.114383850C>T

Select item 148959376912.

rs1489593769 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:113621485 (GRCh38)
2:114379062 (GRCh37)
Canonical SPDI:: NC_000002.12:113621484:G:C
Gene:: RPL23AP7 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.113621485G>C, NC_000002.11:g.114379062G>C

Select item 148946485713.

rs1489464857 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:113617688 (GRCh38)
2:114375265 (GRCh37)
Canonical SPDI:: NC_000002.12:113617687:T:C,NC_000002.12:113617687:T:G
Gene:: RPL23AP7 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.113617688T>C, NC_000002.12:g.113617688T>G, NC_000002.11:g.114375265T>C, NC_000002.11:g.114375265T>G

Select item 148942727214.

rs1489427272 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:113616512 (GRCh38)
2:114374089 (GRCh37)
Canonical SPDI:: NC_000002.12:113616511:A:T
Gene:: RPL23AP7 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00147/24 (ALFA)
T=0.000772/98 (GnomAD)
T=0.003333/2 (NorthernSweden)
HGVS:: NC_000002.12:g.113616512A>T, NC_000002.11:g.114374089A>T

Select item 148941124115.

rs1489411241 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:113611036 (GRCh38)
2:114368613 (GRCh37)
Canonical SPDI:: NC_000002.12:113611035:G:A
Gene:: RPL23AP7 (Varview), LOC124907874 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.113611036G>A, NC_000002.11:g.114368613G>A, XM_047446749.1:c.992G>A, XP_047302705.1:p.Ser331Asn

Select item 148935875416.

rs1489358754 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:113625404 (GRCh38)
2:114382982 (GRCh37)
Canonical SPDI:: NC_000002.12:113625404:G:GG
Gene:: RABL2A (Varview), RPL23AP7 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.000008/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.113625405dup, NC_000002.11:g.114382982dup

Select item 148935228317.

rs1489352283 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TCCT [Show Flanks]
Chromosome:: 2:113626186 (GRCh38)
2:114383764 (GRCh37)
Canonical SPDI:: NC_000002.12:113626186:TCCT:TCCTTCCT
Gene:: RABL2A (Varview), RPL23AP7 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCCTTCCT=0.000071/1 (ALFA)
TCCT=0.000014/2 (GnomAD)
TCCT=0.000023/6 (TOPMED)
HGVS:: NC_000002.12:g.113626187_113626190dup, NC_000002.11:g.114383764_114383767dup

Select item 148890703218.

rs1488907032 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 2:113611361 (GRCh38)
2:114368938 (GRCh37)
Canonical SPDI:: NC_000002.12:113611360:A:C,NC_000002.12:113611360:A:G
Gene:: RPL23AP7 (Varview), LOC124907874 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.113611361A>C, NC_000002.12:g.113611361A>G, NC_000002.11:g.114368938A>C, NC_000002.11:g.114368938A>G, NR_000029.3:n.1109T>G, NR_000029.3:n.1109T>C, NR_024528.1:n.1360T>G, NR_024528.1:n.1360T>C, NR_024529.1:n.1266T>G, NR_024529.1:n.1266T>C

Select item 148862772919.

rs1488627729 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:113611505 (GRCh38)
2:114369082 (GRCh37)
Canonical SPDI:: NC_000002.12:113611504:T:C
Gene:: RPL23AP7 (Varview), LOC124907874 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.00047/7 (ALFA)
C=0.00006/5 (GnomAD)
HGVS:: NC_000002.12:g.113611505T>C, NC_000002.11:g.114369082T>C, NR_000029.3:n.965A>G, NR_024528.1:n.1216A>G, NR_024529.1:n.1122A>G

Select item 148855039620.

rs1488550396 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:113619367 (GRCh38)
2:114376944 (GRCh37)
Canonical SPDI:: NC_000002.12:113619366:C:A
Gene:: RPL23AP7 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.113619367C>A, NC_000002.11:g.114376944C>A

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