SNP Links for Gene (Select 677799) - SNP

Links from Gene

Items: 1 to 20 of 423

<< First< Prev

Page of 22

Next >Last >>

Select item 14903500321.

rs1490350032 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:54814065 (GRCh38)
X:54840498 (GRCh37)
Canonical SPDI:: NC_000023.11:54814064:G:A
Gene:: MAGED2 (Varview), SNORA11 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.54814065G>A, NC_000023.10:g.54840498G>A, NG_012844.1:g.11328G>A

Select item 14898892362.

rs1489889236 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:54813291 (GRCh38)
X:54839724 (GRCh37)
Canonical SPDI:: NC_000023.11:54813290:T:C
Gene:: MAGED2 (Varview), SNORA11 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000026/7 (TOPMED)
C=0.000039/4 (GnomAD)
HGVS:: NC_000023.11:g.54813291T>C, NC_000023.10:g.54839724T>C, NG_012844.1:g.10554T>C

Select item 14886180293.

rs1488618029 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:54812390 (GRCh38)
X:54838823 (GRCh37)
Canonical SPDI:: NC_000023.11:54812389:A:G
Gene:: MAGED2 (Varview), SNORA11 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000023.11:g.54812390A>G, NC_000023.10:g.54838823A>G, NG_012844.1:g.9653A>G

Select item 14866416344.

rs1486641634 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:54813066 (GRCh38)
X:54839499 (GRCh37)
Canonical SPDI:: NC_000023.11:54813065:A:G
Gene:: MAGED2 (Varview), SNORA11 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.00001/1 (GnomAD)
G=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.54813066A>G, NC_000023.10:g.54839499A>G, NG_012844.1:g.10329A>G

Select item 14833586585.

rs1483358658 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:54813767 (GRCh38)
X:54840200 (GRCh37)
Canonical SPDI:: NC_000023.11:54813766:C:G
Gene:: MAGED2 (Varview), SNORA11 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.54813767C>G, NC_000023.10:g.54840200C>G, NG_012844.1:g.11030C>G

Select item 14812485176.

rs1481248517 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:54814166 (GRCh38)
X:54840599 (GRCh37)
Canonical SPDI:: NC_000023.11:54814165:G:T
Gene:: MAGED2 (Varview), SNORA11 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.54814166G>T, NC_000023.10:g.54840599G>T, NG_012844.1:g.11429G>T

Select item 14811223137.

rs1481122313 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:54814487 (GRCh38)
X:54840920 (GRCh37)
Canonical SPDI:: NC_000023.11:54814486:G:A
Gene:: MAGED2 (Varview), SNORA11 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000019/2 (GnomAD)
A=0.00009/1 (TOMMO)
HGVS:: NC_000023.11:g.54814487G>A, NC_000023.10:g.54840920G>A, NG_012844.1:g.11750G>A, NR_002953.1:n.118G>A

Select item 14790076078.

rs1479007607 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:54814913 (GRCh38)
X:54841346 (GRCh37)
Canonical SPDI:: NC_000023.11:54814912:G:T
Gene:: MAGED2 (Varview), SNORA11 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.54814913G>T, NC_000023.10:g.54841346G>T, NG_012844.1:g.12176G>T

Select item 14778774969.

rs1477877496 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:54814272 (GRCh38)
X:54840705 (GRCh37)
Canonical SPDI:: NC_000023.11:54814271:A:G
Gene:: MAGED2 (Varview), SNORA11 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000009/1 (GnomAD)
HGVS:: NC_000023.11:g.54814272A>G, NC_000023.10:g.54840705A>G, NG_012844.1:g.11535A>G

Select item 147782752310.

rs1477827523 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:54812661 (GRCh38)
X:54839094 (GRCh37)
Canonical SPDI:: NC_000023.11:54812660:G:C
Gene:: MAGED2 (Varview), SNORA11 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.54812661G>C, NC_000023.10:g.54839094G>C, NG_012844.1:g.9924G>C

Select item 147722164011.

rs1477221640 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:54813820 (GRCh38)
X:54840253 (GRCh37)
Canonical SPDI:: NC_000023.11:54813819:G:A
Gene:: MAGED2 (Varview), SNORA11 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.54813820G>A, NC_000023.10:g.54840253G>A, NG_012844.1:g.11083G>A

Select item 147518949712.

rs1475189497 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:54813074 (GRCh38)
X:54839507 (GRCh37)
Canonical SPDI:: NC_000023.11:54813073:T:A
Gene:: MAGED2 (Varview), SNORA11 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000005/1 (GnomAD_exomes)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.54813074T>A, NC_000023.10:g.54839507T>A, NG_012844.1:g.10337T>A

Select item 147474571613.

rs1474745716 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:54814296 (GRCh38)
X:54840729 (GRCh37)
Canonical SPDI:: NC_000023.11:54814295:C:T
Gene:: MAGED2 (Varview), SNORA11 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000009/1 (GnomAD)
HGVS:: NC_000023.11:g.54814296C>T, NC_000023.10:g.54840729C>T, NG_012844.1:g.11559C>T

Select item 147241848714.

rs1472418487 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:54814955 (GRCh38)
X:54841388 (GRCh37)
Canonical SPDI:: NC_000023.11:54814954:A:G
Gene:: MAGED2 (Varview), SNORA11 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000023.11:g.54814955A>G, NC_000023.10:g.54841388A>G, NG_012844.1:g.12218A>G

Select item 147133098915.

rs1471330989 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:54813599 (GRCh38)
X:54840032 (GRCh37)
Canonical SPDI:: NC_000023.11:54813598:T:G
Gene:: MAGED2 (Varview), SNORA11 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.54813599T>G, NC_000023.10:g.54840032T>G, NG_012844.1:g.10862T>G

Select item 146871610816.

rs1468716108 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: X:54813047 (GRCh38)
X:54839480 (GRCh37)
Canonical SPDI:: NC_000023.11:54813046:G:A,NC_000023.11:54813046:G:C
Gene:: MAGED2 (Varview), SNORA11 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.54813047G>A, NC_000023.11:g.54813047G>C, NC_000023.10:g.54839480G>A, NC_000023.10:g.54839480G>C, NG_012844.1:g.10310G>A, NG_012844.1:g.10310G>C

Select item 146826384317.

rs1468263843 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TCAGGCAACT [Show Flanks]
Chromosome:: X:54813998 (GRCh38)
X:54840432 (GRCh37)
Canonical SPDI:: NC_000023.11:54813998:CT:CTTCAGGCAACT
Gene:: MAGED2 (Varview), SNORA11 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CTTCAGGCAACT=0.000071/1 (ALFA)
CTTCAGGCAA=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.54814000_54814001insTCAGGCAACT, NC_000023.10:g.54840433_54840434insTCAGGCAACT, NG_012844.1:g.11263_11264insTCAGGCAACT

Select item 146199706918.

rs1461997069 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: X:54814443 (GRCh38)
X:54840876 (GRCh37)
Canonical SPDI:: NC_000023.11:54814442:AT:
Gene:: MAGED2 (Varview), SNORA11 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.54814443_54814444del, NC_000023.10:g.54840876_54840877del, NG_012844.1:g.11706_11707del, NR_002953.1:n.74_75del

Select item 146058089619.

rs1460580896 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:54813686 (GRCh38)
X:54840119 (GRCh37)
Canonical SPDI:: NC_000023.11:54813685:T:G
Gene:: MAGED2 (Varview), SNORA11 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000023.11:g.54813686T>G, NC_000023.10:g.54840119T>G, NG_012844.1:g.10949T>G

Select item 145831612820.

rs1458316128 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:54813807 (GRCh38)
X:54840240 (GRCh37)
Canonical SPDI:: NC_000023.11:54813806:G:A
Gene:: MAGED2 (Varview), SNORA11 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/2 (GnomAD)
A=0.000019/5 (TOPMED)
A=0.000045/1 (TOMMO)
HGVS:: NC_000023.11:g.54813807G>A, NC_000023.10:g.54840240G>A, NG_012844.1:g.11070G>A

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 423

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity