SNP Links for Gene (Select 2564) - SNP

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Select item 14909882811.

rs1490988281 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:151973394 (GRCh38)
X:151141866 (GRCh37)
Canonical SPDI:: NC_000023.11:151973393:C:T
Gene:: GABRE (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.151973394C>T, NC_000023.10:g.151141866C>T, NG_012511.1:g.6286G>A, XM_047441960.1:c.-2986G>A, XM_047441959.1:c.-2538G>A

Select item 14909564292.

rs1490956429 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:151974361 (GRCh38)
X:151142833 (GRCh37)
Canonical SPDI:: NC_000023.11:151974360:G:A
Gene:: GABRE (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.151974361G>A, NC_000023.10:g.151142833G>A, NG_012511.1:g.5319C>T, XM_047441960.1:c.-3953C>T, XM_047441959.1:c.-3505C>T

Select item 14909414063.

rs1490941406 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:151974429 (GRCh38)
X:151142901 (GRCh37)
Canonical SPDI:: NC_000023.11:151974428:G:C
Gene:: GABRE (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.151974429G>C, NC_000023.10:g.151142901G>C, NG_012511.1:g.5251C>G, XM_047441960.1:c.-4021C>G, XM_047441959.1:c.-3573C>G

Select item 14906440374.

rs1490644037 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:151960860 (GRCh38)
X:151129332 (GRCh37)
Canonical SPDI:: NC_000023.11:151960859:T:C
Gene:: GABRE (Varview), MIR452 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_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.151960860T>C, NC_000023.10:g.151129332T>C, NG_012511.1:g.18820A>G, XM_011531140.3:c.-766A>G, XM_011531140.2:c.-766A>G, XM_011531140.1:c.-766A>G

Select item 14903301185.

rs1490330118 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAG>- [Show Flanks]
Chromosome:: X:151957334 (GRCh38)
X:151125806 (GRCh37)
Canonical SPDI:: NC_000023.11:151957329:GAAGAAG:GAAG
Gene:: GABRE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.151957331AAG[1], NC_000023.10:g.151125803AAG[1], NG_012511.1:g.22345TTC[1]

Select item 14902619526.

rs1490261952 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:151965356 (GRCh38)
X:151133828 (GRCh37)
Canonical SPDI:: NC_000023.11:151965355:A:C
Gene:: GABRE (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.151965356A>C, NC_000023.10:g.151133828A>C, NG_012511.1:g.14324T>G

Select item 14901537287.

rs1490153728 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:151954009 (GRCh38)
X:151122481 (GRCh37)
Canonical SPDI:: NC_000023.11:151954008:G:A
Gene:: GABRE (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.151954009G>A, NC_000023.10:g.151122481G>A, NG_012511.1:g.25671C>T, NM_004961.4:c.*692C>T, NM_004961.3:c.*692C>T, XM_011531140.3:c.*692C>T, XM_011531140.2:c.*692C>T, XM_011531140.1:c.*692C>T, NM_021990.2:c.*692C>T, NM_021984.2:c.*692C>T, XM_024452360.2:c.*692C>T, XM_024452360.1:c.*692C>T, NM_021987.2:c.*692C>T, XM_017029388.2:c.*692C>T, XM_017029388.1:c.*692C>T, XM_047441960.1:c.*692C>T, XM_047441959.1:c.*692C>T, NM_021990.1:c.*692C>T, NM_021984.1:c.*692C>T, NM_021987.1:c.*692C>T

Select item 14900082478.

rs1490008247 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:151974339 (GRCh38)
X:151142811 (GRCh37)
Canonical SPDI:: NC_000023.11:151974338:T:C
Gene:: GABRE (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.151974339T>C, NC_000023.10:g.151142811T>C, NG_012511.1:g.5341A>G, XM_047441960.1:c.-3931A>G, XM_047441959.1:c.-3483A>G

Select item 14899895509.

rs1489989550 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:151954418 (GRCh38)
X:151122890 (GRCh37)
Canonical SPDI:: NC_000023.11:151954417:C:T
Gene:: GABRE (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.151954418C>T, NC_000023.10:g.151122890C>T, NG_012511.1:g.25262G>A, NM_004961.4:c.*283G>A, NM_004961.3:c.*283G>A, XM_011531140.3:c.*283G>A, XM_011531140.2:c.*283G>A, XM_011531140.1:c.*283G>A, NM_021990.2:c.*283G>A, NM_021984.2:c.*283G>A, XM_024452360.2:c.*283G>A, XM_024452360.1:c.*283G>A, NM_021987.2:c.*283G>A, XM_017029388.2:c.*283G>A, XM_017029388.1:c.*283G>A, XM_047441960.1:c.*283G>A, XM_047441959.1:c.*283G>A, NM_021990.1:c.*283G>A, NM_021984.1:c.*283G>A, NM_021987.1:c.*283G>A

Select item 148982668710.

rs1489826687 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:151958870 (GRCh38)
X:151127342 (GRCh37)
Canonical SPDI:: NC_000023.11:151958869:T:C
Gene:: GABRE (Varview), MIR224 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.151958870T>C, NC_000023.10:g.151127342T>C, NG_012511.1:g.20810A>G

Select item 148973279711.

rs1489732797 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:151972302 (GRCh38)
X:151140774 (GRCh37)
Canonical SPDI:: NC_000023.11:151972301:T:C
Gene:: GABRE (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.151972302T>C, NC_000023.10:g.151140774T>C, NG_012511.1:g.7378A>G, XM_047441960.1:c.-1894A>G, XM_047441959.1:c.-1446A>G

Select item 148950826112.

rs1489508261 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:151961580 (GRCh38)
X:151130052 (GRCh37)
Canonical SPDI:: NC_000023.11:151961579:C:T
Gene:: GABRE (Varview), MIR452 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.151961580C>T, NC_000023.10:g.151130052C>T, NG_012511.1:g.18100G>A

Select item 148949863113.

rs1489498631 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:151976535 (GRCh38)
X:151145007 (GRCh37)
Canonical SPDI:: NC_000023.11:151976534:T:C
Gene:: GABRE (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.151976535T>C, NC_000023.10:g.151145007T>C, NG_012511.1:g.3145A>G

Select item 148946664814.

rs1489466648 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:151966940 (GRCh38)
X:151135412 (GRCh37)
Canonical SPDI:: NC_000023.11:151966939:A:G
Gene:: GABRE (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.151966940A>G, NC_000023.10:g.151135412A>G, NG_012511.1:g.12740T>C

Select item 148887483415.

rs1488874834 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:151971452 (GRCh38)
X:151139924 (GRCh37)
Canonical SPDI:: NC_000023.11:151971451:G:T
Gene:: GABRE (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.151971452G>T, NC_000023.10:g.151139924G>T, NG_012511.1:g.8228C>A, XM_047441960.1:c.-1044C>A, XM_047441959.1:c.-596C>A

Select item 148865206216.

rs1488652062 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:151969715 (GRCh38)
X:151138187 (GRCh37)
Canonical SPDI:: NC_000023.11:151969714:A:G
Gene:: GABRE (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.151969715A>G, NC_000023.10:g.151138187A>G, NG_012511.1:g.9965T>C, NM_004961.4:c.296T>C, NM_004961.3:c.296T>C, NM_021990.2:c.-44T>C, NM_021984.2:c.-44T>C, XM_024452360.2:c.-44T>C, XM_024452360.1:c.-44T>C, NM_021987.2:c.-44T>C, XM_047441960.1:c.-44T>C, XM_047441959.1:c.-44T>C, NM_021990.1:c.-44T>C, NM_021984.1:c.-44T>C, NM_021987.1:c.-44T>C, NP_004952.2:p.Val99Ala

Select item 148853677417.

rs1488536774 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:151966237 (GRCh38)
X:151134709 (GRCh37)
Canonical SPDI:: NC_000023.11:151966236:A:G
Gene:: GABRE (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000029/3 (GnomAD)
G=0.000038/10 (TOPMED)
HGVS:: NC_000023.11:g.151966237A>G, NC_000023.10:g.151134709A>G, NG_012511.1:g.13443T>C

Select item 148845316518.

rs1488453165 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTGTGTGTGTGT>- [Show Flanks]
Chromosome:: X:151971867 (GRCh38)
X:151140339 (GRCh37)
Canonical SPDI:: NC_000023.11:151971855:TGTGTGTGTGTCTGTGTGTGTGT:TGTGTGTGTGT
Gene:: GABRE (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGT=0.00363/43 (ALFA)
-=0.00138/93 (GnomAD)
-=0.01228/153 (TOMMO)
HGVS:: NC_000023.11:g.151971867_151971878del, NC_000023.10:g.151140339_151140350del, NG_012511.1:g.7813_7824del, XM_047441960.1:c.-1459_-1448del, XM_047441959.1:c.-1011_-1000del

Select item 148787439419.

rs1487874394 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: X:151961977 (GRCh38)
X:151130449 (GRCh37)
Canonical SPDI:: NC_000023.11:151961976:T:
Gene:: GABRE (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.151961977del, NC_000023.10:g.151130449del, NG_012511.1:g.17703del

Select item 148782656620.

rs1487826566 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: X:151965639 (GRCh38)
X:151134112 (GRCh37)
Canonical SPDI:: NC_000023.11:151965639:TTTT:TTTTT
Gene:: GABRE (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
HGVS:: NC_000023.11:g.151965643dup, NC_000023.10:g.151134115dup, NG_012511.1:g.14040dup

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