SNP Links for Gene (Select 55056) - SNP

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Items: 1 to 20 of 2356

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Select item 14909245451.

rs1490924545 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:50355223 (GRCh38)
15:50647420 (GRCh37)
Canonical SPDI:: NC_000015.10:50355222:C:T
Gene:: GABPB1 (Varview), GABPB1-IT1 (Varview), GABPB1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000054/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
T=0.000223/1 (Estonian)
HGVS:: NC_000015.10:g.50355223C>T, NC_000015.9:g.50647420C>T, NG_029475.2:g.5186G>A, NM_005254.5:c.-239G>A, NM_016654.4:c.-239G>A, NM_002041.4:c.-239G>A, NM_016655.4:c.-239G>A, NM_181427.3:c.-263G>A, NR_024490.1:n.1050C>T, NM_001320910.1:c.-263G>A, NM_001320915.1:c.-263G>A

Select item 14906396462.

rs1490639646 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:50355758 (GRCh38)
15:50647955 (GRCh37)
Canonical SPDI:: NC_000015.10:50355757:C:T
Gene:: GABPB1 (Varview), GABPB1-IT1 (Varview), GABPB1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.50355758C>T, NC_000015.9:g.50647955C>T, NG_029475.2:g.4651G>A, NR_024490.1:n.1585C>T

Select item 14903671593.

rs1490367159 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:50350303 (GRCh38)
15:50642500 (GRCh37)
Canonical SPDI:: NC_000015.10:50350302:A:G
Gene:: GABPB1 (Varview), GABPB1-IT1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.50350303A>G, NC_000015.9:g.50642500A>G, NG_029475.2:g.10106T>C, NR_026891.1:n.4577T>C

Select item 14902652954.

rs1490265295 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:50352727 (GRCh38)
15:50644924 (GRCh37)
Canonical SPDI:: NC_000015.10:50352726:G:A
Gene:: GABPB1 (Varview), GABPB1-IT1 (Varview), GABPB1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00005/7 (GnomAD)
A=0.000072/19 (TOPMED)
A=0.000342/1 (KOREAN)
A=0.000425/7 (TOMMO)
A=0.000546/1 (Korea1K)
HGVS:: NC_000015.10:g.50352727G>A, NC_000015.9:g.50644924G>A, NG_029475.2:g.7682C>T, NR_026891.1:n.2153C>T

Select item 14901501425.

rs1490150142 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:50356057 (GRCh38)
15:50648254 (GRCh37)
Canonical SPDI:: NC_000015.10:50356056:G:A
Gene:: GABPB1 (Varview), GABPB1-IT1 (Varview), GABPB1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.50356057G>A, NC_000015.9:g.50648254G>A, NG_029475.2:g.4352C>T, NR_024490.1:n.1884G>A

Select item 14897273166.

rs1489727316 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 15:50351643 (GRCh38)
15:50643840 (GRCh37)
Canonical SPDI:: NC_000015.10:50351642:G:A,NC_000015.10:50351642:G:C
Gene:: GABPB1 (Varview), GABPB1-IT1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.50351643G>A, NC_000015.10:g.50351643G>C, NC_000015.9:g.50643840G>A, NC_000015.9:g.50643840G>C, NG_029475.2:g.8766C>T, NG_029475.2:g.8766C>G, NR_026891.1:n.3237C>T, NR_026891.1:n.3237C>G

Select item 14890380617.

rs1489038061 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:50355388 (GRCh38)
15:50647585 (GRCh37)
Canonical SPDI:: NC_000015.10:50355387:C:T
Gene:: GABPB1 (Varview), GABPB1-IT1 (Varview), GABPB1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000015.10:g.50355388C>T, NC_000015.9:g.50647585C>T, NG_029475.2:g.5021G>A, NM_005254.5:c.-404G>A, NM_016654.4:c.-404G>A, NM_002041.4:c.-404G>A, NM_016655.4:c.-404G>A, NM_181427.3:c.-428G>A, NR_024490.1:n.1215C>T, NM_001320910.1:c.-428G>A, NM_001320915.1:c.-428G>A

Select item 14886566258.

rs1488656625 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 15:50348827 (GRCh38)
15:50641024 (GRCh37)
Canonical SPDI:: NC_000015.10:50348826:A:C,NC_000015.10:50348826:A:T
Gene:: GABPB1 (Varview), GABPB1-IT1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.50348827A>C, NC_000015.10:g.50348827A>T, NC_000015.9:g.50641024A>C, NC_000015.9:g.50641024A>T, NG_029475.2:g.11582T>G, NG_029475.2:g.11582T>A

Select item 14884464279.

rs1488446427 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 15:50348442 (GRCh38)
15:50640639 (GRCh37)
Canonical SPDI:: NC_000015.10:50348441:C:A,NC_000015.10:50348441:C:T
Gene:: GABPB1 (Varview), GABPB1-IT1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000015.10:g.50348442C>A, NC_000015.10:g.50348442C>T, NC_000015.9:g.50640639C>A, NC_000015.9:g.50640639C>T, NG_029475.2:g.11967G>T, NG_029475.2:g.11967G>A

Select item 148826457710.

rs1488264577 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:50355442 (GRCh38)
15:50647639 (GRCh37)
Canonical SPDI:: NC_000015.10:50355441:C:T
Gene:: GABPB1 (Varview), GABPB1-IT1 (Varview), GABPB1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_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_000015.10:g.50355442C>T, NC_000015.9:g.50647639C>T, NG_029475.2:g.4967G>A, NR_024490.1:n.1269C>T

Select item 148726248411.

rs1487262484 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:50355342 (GRCh38)
15:50647539 (GRCh37)
Canonical SPDI:: NC_000015.10:50355341:G:A
Gene:: GABPB1 (Varview), GABPB1-IT1 (Varview), GABPB1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,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_000015.10:g.50355342G>A, NC_000015.9:g.50647539G>A, NG_029475.2:g.5067C>T, NM_005254.5:c.-358C>T, NM_016654.4:c.-358C>T, NM_002041.4:c.-358C>T, NM_016655.4:c.-358C>T, NM_181427.3:c.-382C>T, NR_024490.1:n.1169G>A, NM_001320910.1:c.-382C>T, NM_001320915.1:c.-382C>T

Select item 148713408212.

rs1487134082 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 15:50354560 (GRCh38)
15:50646757 (GRCh37)
Canonical SPDI:: NC_000015.10:50354559:T:A,NC_000015.10:50354559:T:G
Gene:: GABPB1 (Varview), GABPB1-IT1 (Varview), GABPB1-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000015.10:g.50354560T>A, NC_000015.10:g.50354560T>G, NC_000015.9:g.50646757T>A, NC_000015.9:g.50646757T>G, NG_029475.2:g.5849A>T, NG_029475.2:g.5849A>C, NR_026891.1:n.320A>T, NR_026891.1:n.320A>C, NR_024490.1:n.387T>A, NR_024490.1:n.387T>G, NM_017976.1:c.137A>T, NM_017976.1:c.137A>C

Select item 148707103913.

rs1487071039 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:50350512 (GRCh38)
15:50642709 (GRCh37)
Canonical SPDI:: NC_000015.10:50350511:T:C
Gene:: GABPB1 (Varview), GABPB1-IT1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,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_000015.10:g.50350512T>C, NC_000015.9:g.50642709T>C, NG_029475.2:g.9897A>G, NR_026891.1:n.4368A>G

Select item 148685326614.

rs1486853266 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:50354452 (GRCh38)
15:50646649 (GRCh37)
Canonical SPDI:: NC_000015.10:50354451:G:A
Gene:: GABPB1 (Varview), GABPB1-IT1 (Varview), GABPB1-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.50354452G>A, NC_000015.9:g.50646649G>A, NG_029475.2:g.5957C>T, NR_026891.1:n.428C>T, NR_024490.1:n.279G>A, NM_017976.1:c.245C>T

Select item 148683777015.

rs1486837770 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:50353736 (GRCh38)
15:50645933 (GRCh37)
Canonical SPDI:: NC_000015.10:50353735:T:C
Gene:: GABPB1 (Varview), GABPB1-IT1 (Varview), GABPB1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.50353736T>C, NC_000015.9:g.50645933T>C, NG_029475.2:g.6673A>G, NR_026891.1:n.1144A>G, NM_017976.1:c.*550A>G

Select item 148610849016.

rs1486108490 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 15:50353326 (GRCh38)
15:50645523 (GRCh37)
Canonical SPDI:: NC_000015.10:50353325:C:A,NC_000015.10:50353325:C:G
Gene:: GABPB1 (Varview), GABPB1-IT1 (Varview), GABPB1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.50353326C>A, NC_000015.10:g.50353326C>G, NC_000015.9:g.50645523C>A, NC_000015.9:g.50645523C>G, NG_029475.2:g.7083G>T, NG_029475.2:g.7083G>C, NR_026891.1:n.1554G>T, NR_026891.1:n.1554G>C

Select item 148517933317.

rs1485179333 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 15:50350370 (GRCh38)
15:50642567 (GRCh37)
Canonical SPDI:: NC_000015.10:50350369:G:
Gene:: GABPB1 (Varview), GABPB1-IT1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000037/5 (GnomAD)
-=0.000156/1 (1000Genomes)
HGVS:: NC_000015.10:g.50350370del, NC_000015.9:g.50642567del, NG_029475.2:g.10039del, NR_026891.1:n.4510del

Select item 148510810518.

rs1485108105 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:50351533 (GRCh38)
15:50643730 (GRCh37)
Canonical SPDI:: NC_000015.10:50351532:C:T
Gene:: GABPB1 (Varview), GABPB1-IT1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,non_coding_transcript_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_000015.10:g.50351533C>T, NC_000015.9:g.50643730C>T, NG_029475.2:g.8876G>A, NR_026891.1:n.3347G>A

Select item 148490462819.

rs1484904628 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:50352703 (GRCh38)
15:50644900 (GRCh37)
Canonical SPDI:: NC_000015.10:50352702:G:A
Gene:: GABPB1 (Varview), GABPB1-IT1 (Varview), GABPB1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000036/5 (GnomAD)
A=0.000038/10 (TOPMED)
HGVS:: NC_000015.10:g.50352703G>A, NC_000015.9:g.50644900G>A, NG_029475.2:g.7706C>T, NR_026891.1:n.2177C>T

Select item 148409576820.

rs1484095768 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:50356779 (GRCh38)
15:50648976 (GRCh37)
Canonical SPDI:: NC_000015.10:50356778:G:A
Gene:: GABPB1 (Varview), GABPB1-IT1 (Varview), GABPB1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_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_000015.10:g.50356779G>A, NC_000015.9:g.50648976G>A, NG_029475.2:g.3630C>T, NR_024490.1:n.2606G>A

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