SNP Links for Gene (Select 105378589) - SNP

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Select item 14907957431.

rs1490795743 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:2017636 (GRCh38)
1:1949075 (GRCh37)
Canonical SPDI:: NC_000001.11:2017635:G:C
Gene:: GABRD (Varview), LOC105378589 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.2017636G>C, NC_000001.10:g.1949075G>C, NG_008168.1:g.3308G>C, XR_001737844.3:n.453C>G, XR_001737844.2:n.503C>G, XR_001737843.3:n.453C>G, XR_001737843.2:n.503C>G

Select item 14903055532.

rs1490305553 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:2018102 (GRCh38)
1:1949541 (GRCh37)
Canonical SPDI:: NC_000001.11:2018101:G:T
Gene:: GABRD (Varview), LOC105378589 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000001.11:g.2018102G>T, NC_000001.10:g.1949541G>T, NG_008168.1:g.3774G>T

Select item 14896835753.

rs1489683575 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:2013000 (GRCh38)
1:1944439 (GRCh37)
Canonical SPDI:: NC_000001.11:2012999:G:A
Gene:: LOC105378589 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.2013000G>A, NC_000001.10:g.1944439G>A

Select item 14893829604.

rs1489382960 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:2015336 (GRCh38)
1:1946775 (GRCh37)
Canonical SPDI:: NC_000001.11:2015335:G:A
Gene:: LOC105378589 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.2015336G>A, NC_000001.10:g.1946775G>A, NG_008168.1:g.1008G>A, XR_001737844.3:n.2753C>T, XR_001737844.2:n.2803C>T, XR_001737844.1:n.1263C>T

Select item 14892380095.

rs1489238009 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:2016654 (GRCh38)
1:1948093 (GRCh37)
Canonical SPDI:: NC_000001.11:2016653:T:C
Gene:: LOC105378589 (Varview)
Functional Consequence:: non_coding_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_000001.11:g.2016654T>C, NC_000001.10:g.1948093T>C, NG_008168.1:g.2326T>C, XR_001737844.3:n.1435A>G, XR_001737844.2:n.1485A>G, XR_001737843.3:n.1435A>G, XR_001737843.2:n.1485A>G

Select item 14877176136.

rs1487717613 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:2013739 (GRCh38)
1:1945178 (GRCh37)
Canonical SPDI:: NC_000001.11:2013738:C:T
Gene:: LOC105378589 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000034/9 (TOPMED)
T=0.000036/5 (GnomAD)
T=0.000142/2 (TOMMO)
T=0.000342/1 (KOREAN)
HGVS:: NC_000001.11:g.2013739C>T, NC_000001.10:g.1945178C>T, XR_001737844.3:n.4170G>A, XR_001737844.2:n.4220G>A, XR_001737844.1:n.2680G>A, XR_001737843.3:n.3986G>A, XR_001737843.2:n.4036G>A, XR_001737843.1:n.2496G>A

Select item 14874608677.

rs1487460867 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:2018468 (GRCh38)
1:1949907 (GRCh37)
Canonical SPDI:: NC_000001.11:2018467:A:G
Gene:: GABRD (Varview), LOC105378589 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000001.11:g.2018468A>G, NC_000001.10:g.1949907A>G, NG_008168.1:g.4140A>G

Select item 14873802208.

rs1487380220 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:2018505 (GRCh38)
1:1949944 (GRCh37)
Canonical SPDI:: NC_000001.11:2018504:C:T
Gene:: GABRD (Varview), LOC105378589 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (KOREAN)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.2018505C>T, NC_000001.10:g.1949944C>T, NG_008168.1:g.4177C>T

Select item 14867932379.

rs1486793237 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 1:2014052 (GRCh38)
1:1945491 (GRCh37)
Canonical SPDI:: NC_000001.11:2014051:GC:
Gene:: LOC105378589 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.2014052_2014053del, NC_000001.10:g.1945491_1945492del, XR_001737844.3:n.3856_3857del, XR_001737844.2:n.3906_3907del, XR_001737844.1:n.2366_2367del, XR_001737843.3:n.3672_3673del, XR_001737843.2:n.3722_3723del, XR_001737843.1:n.2182_2183del

Select item 148522477710.

rs1485224777 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:2015866 (GRCh38)
1:1947305 (GRCh37)
Canonical SPDI:: NC_000001.11:2015865:C:A,NC_000001.11:2015865:C:T
Gene:: LOC105378589 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.2015866C>A, NC_000001.11:g.2015866C>T, NC_000001.10:g.1947305C>A, NC_000001.10:g.1947305C>T, NG_008168.1:g.1538C>A, NG_008168.1:g.1538C>T, XR_001737844.3:n.2223G>T, XR_001737844.3:n.2223G>A, XR_001737844.2:n.2273G>T, XR_001737844.2:n.2273G>A, XR_001737844.1:n.733G>T, XR_001737844.1:n.733G>A, XR_001737843.3:n.2223G>T, XR_001737843.3:n.2223G>A, XR_001737843.2:n.2273G>T, XR_001737843.2:n.2273G>A, XR_001737843.1:n.733G>T, XR_001737843.1:n.733G>A

Select item 148518112011.

rs1485181120 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:2017161 (GRCh38)
1:1948600 (GRCh37)
Canonical SPDI:: NC_000001.11:2017160:G:A
Gene:: LOC105378589 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.2017161G>A, NC_000001.10:g.1948600G>A, NG_008168.1:g.2833G>A, XR_001737844.3:n.928C>T, XR_001737844.2:n.978C>T, XR_001737843.3:n.928C>T, XR_001737843.2:n.978C>T

Select item 148472995912.

rs1484729959 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:2017881 (GRCh38)
1:1949320 (GRCh37)
Canonical SPDI:: NC_000001.11:2017880:C:G,NC_000001.11:2017880:C:T
Gene:: GABRD (Varview), LOC105378589 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.2017881C>G, NC_000001.11:g.2017881C>T, NC_000001.10:g.1949320C>G, NC_000001.10:g.1949320C>T, NG_008168.1:g.3553C>G, NG_008168.1:g.3553C>T, XR_001737844.3:n.208G>C, XR_001737844.3:n.208G>A, XR_001737844.2:n.258G>C, XR_001737844.2:n.258G>A, XR_001737843.3:n.208G>C, XR_001737843.3:n.208G>A, XR_001737843.2:n.258G>C, XR_001737843.2:n.258G>A

Select item 148431067113.

rs1484310671 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 1:2016867 (GRCh38)
1:1948306 (GRCh37)
Canonical SPDI:: NC_000001.11:2016866:G:
Gene:: LOC105378589 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.2016867del, NC_000001.10:g.1948306del, NG_008168.1:g.2539del, XR_001737844.3:n.1222del, XR_001737844.2:n.1272del, XR_001737843.3:n.1222del, XR_001737843.2:n.1272del

Select item 148363041714.

rs1483630417 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 1:2013613 (GRCh38)
1:1945052 (GRCh37)
Canonical SPDI:: NC_000001.11:2013612:G:C,NC_000001.11:2013612:G:T
Gene:: LOC105378589 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.2013613G>C, NC_000001.11:g.2013613G>T, NC_000001.10:g.1945052G>C, NC_000001.10:g.1945052G>T, XR_001737844.3:n.4296C>G, XR_001737844.3:n.4296C>A, XR_001737844.2:n.4346C>G, XR_001737844.2:n.4346C>A, XR_001737844.1:n.2806C>G, XR_001737844.1:n.2806C>A, XR_001737843.3:n.4112C>G, XR_001737843.3:n.4112C>A, XR_001737843.2:n.4162C>G, XR_001737843.2:n.4162C>A, XR_001737843.1:n.2622C>G, XR_001737843.1:n.2622C>A

Select item 148317896315.

rs1483178963 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:2016859 (GRCh38)
1:1948298 (GRCh37)
Canonical SPDI:: NC_000001.11:2016858:G:A
Gene:: LOC105378589 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.2016859G>A, NC_000001.10:g.1948298G>A, NG_008168.1:g.2531G>A, XR_001737844.3:n.1230C>T, XR_001737844.2:n.1280C>T, XR_001737843.3:n.1230C>T, XR_001737843.2:n.1280C>T

Select item 148278532316.

rs1482785323 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:2012903 (GRCh38)
1:1944342 (GRCh37)
Canonical SPDI:: NC_000001.11:2012902:C:T
Gene:: LOC105378589 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000001.11:g.2012903C>T, NC_000001.10:g.1944342C>T

Select item 148186378717.

rs1481863787 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:2014122 (GRCh38)
1:1945561 (GRCh37)
Canonical SPDI:: NC_000001.11:2014121:T:C
Gene:: LOC105378589 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.2014122T>C, NC_000001.10:g.1945561T>C, XR_001737844.3:n.3787A>G, XR_001737844.2:n.3837A>G, XR_001737844.1:n.2297A>G, XR_001737843.3:n.3603A>G, XR_001737843.2:n.3653A>G, XR_001737843.1:n.2113A>G

Select item 148125495318.

rs1481254953 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:2017563 (GRCh38)
1:1949002 (GRCh37)
Canonical SPDI:: NC_000001.11:2017562:C:A
Gene:: GABRD (Varview), LOC105378589 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.2017563C>A, NC_000001.10:g.1949002C>A, NG_008168.1:g.3235C>A, XR_001737844.3:n.526G>T, XR_001737844.2:n.576G>T, XR_001737843.3:n.526G>T, XR_001737843.2:n.576G>T

Select item 148099714019.

rs1480997140 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:2014636 (GRCh38)
1:1946075 (GRCh37)
Canonical SPDI:: NC_000001.11:2014635:A:G
Gene:: LOC105378589 (Varview)
Functional Consequence:: non_coding_transcript_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_000001.11:g.2014636A>G, NC_000001.10:g.1946075A>G, NG_008168.1:g.308A>G, XR_001737844.3:n.3273T>C, XR_001737844.2:n.3323T>C, XR_001737844.1:n.1783T>C, XR_001737843.3:n.3089T>C, XR_001737843.2:n.3139T>C, XR_001737843.1:n.1599T>C

Select item 148082578720.

rs1480825787 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACATAACATAACA>- [Show Flanks]
Chromosome:: 1:2018338 (GRCh38)
1:1949777 (GRCh37)
Canonical SPDI:: NC_000001.11:2018336:AACATAACATAACA:A
Gene:: GABRD (Varview), LOC105378589 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.00001/1 (GnomAD)
HGVS:: NC_000001.11:g.2018338_2018350del, NC_000001.10:g.1949777_1949789del, NG_008168.1:g.4010_4022del