SNP Links for Gene (Select 677845) - SNP

Links from Gene

Items: 1 to 20 of 606

<< First< Prev

Page of 31

Next >Last >>

Select item 14902404651.

rs1490240465 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 14:81202890 (GRCh38)
14:81669234 (GRCh37)
Canonical SPDI:: NC_000014.9:81202889:T:G
Gene:: GTF2A1 (Varview), SNORA79 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.81202890T>G, NC_000014.8:g.81669234T>G

Select item 14899792062.

rs1489979206 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:81203502 (GRCh38)
14:81669846 (GRCh37)
Canonical SPDI:: NC_000014.9:81203501:G:C
Gene:: GTF2A1 (Varview), SNORA79 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.81203502G>C, NC_000014.8:g.81669846G>C

Select item 14897715073.

rs1489771507 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 14:81204593 (GRCh38)
14:81670937 (GRCh37)
Canonical SPDI:: NC_000014.9:81204592:C:A,NC_000014.9:81204592:C:T
Gene:: GTF2A1 (Varview), SNORA79 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.81204593C>A, NC_000014.9:g.81204593C>T, NC_000014.8:g.81670937C>A, NC_000014.8:g.81670937C>T

Select item 14897027594.

rs1489702759 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:81202412 (GRCh38)
14:81668756 (GRCh37)
Canonical SPDI:: NC_000014.9:81202411:G:A
Gene:: GTF2A1 (Varview), SNORA79 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.81202412G>A, NC_000014.8:g.81668756G>A

Select item 14893007775.

rs1489300777 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:81204059 (GRCh38)
14:81670403 (GRCh37)
Canonical SPDI:: NC_000014.9:81204058:G:A
Gene:: GTF2A1 (Varview), SNORA79 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000014.9:g.81204059G>A, NC_000014.8:g.81670403G>A, NM_015859.4:c.178C>T, NM_015859.3:c.178C>T, NM_201595.3:c.61C>T, NM_201595.2:c.61C>T, NM_001278940.2:c.28C>T, NM_001278940.1:c.28C>T, NR_048573.1:n.679C>T, NP_056943.1:p.His60Tyr, NP_963889.1:p.His21Tyr, NP_001265869.1:p.His10Tyr

Select item 14877993076.

rs1487799307 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 14:81204466 (GRCh38)
14:81670810 (GRCh37)
Canonical SPDI:: NC_000014.9:81204465:T:A
Gene:: GTF2A1 (Varview), SNORA79 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.81204466T>A, NC_000014.8:g.81670810T>A

Select item 14867461707.

rs1486746170 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 14:81204236 (GRCh38)
14:81670580 (GRCh37)
Canonical SPDI:: NC_000014.9:81204235:T:A
Gene:: GTF2A1 (Varview), SNORA79 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
HGVS:: NC_000014.9:g.81204236T>A, NC_000014.8:g.81670580T>A

Select item 14847491608.

rs1484749160 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:81203112 (GRCh38)
14:81669456 (GRCh37)
Canonical SPDI:: NC_000014.9:81203111:A:G
Gene:: GTF2A1 (Varview), SNORA79 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.81203112A>G, NC_000014.8:g.81669456A>G

Select item 14838197489.

rs1483819748 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 14:81203377 (GRCh38)
14:81669721 (GRCh37)
Canonical SPDI:: NC_000014.9:81203376:T:G
Gene:: GTF2A1 (Varview), SNORA79 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000014.9:g.81203377T>G, NC_000014.8:g.81669721T>G

Select item 148260770910.

rs1482607709 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAT>- [Show Flanks]
Chromosome:: 14:81204183 (GRCh38)
14:81670527 (GRCh37)
Canonical SPDI:: NC_000014.9:81204181:TTAT:T
Gene:: GTF2A1 (Varview), SNORA79 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000014.9:g.81204183_81204185del, NC_000014.8:g.81670527_81670529del

Select item 148175130211.

rs1481751302 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:81202949 (GRCh38)
14:81669293 (GRCh37)
Canonical SPDI:: NC_000014.9:81202948:A:G
Gene:: GTF2A1 (Varview), SNORA79 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000066/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000014.9:g.81202949A>G, NC_000014.8:g.81669293A>G

Select item 148130451412.

rs1481304514 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 14:81202316 (GRCh38)
14:81668660 (GRCh37)
Canonical SPDI:: NC_000014.9:81202315:G:C,NC_000014.9:81202315:G:T
Gene:: GTF2A1 (Varview), SNORA79 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.81202316G>C, NC_000014.9:g.81202316G>T, NC_000014.8:g.81668660G>C, NC_000014.8:g.81668660G>T

Select item 148012568213.

rs1480125682 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:81202978 (GRCh38)
14:81669322 (GRCh37)
Canonical SPDI:: NC_000014.9:81202977:T:C
Gene:: GTF2A1 (Varview), SNORA79 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.81202978T>C, NC_000014.8:g.81669322T>C

Select item 147939634914.

rs1479396349 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:81204390 (GRCh38)
14:81670734 (GRCh37)
Canonical SPDI:: NC_000014.9:81204389:C:T
Gene:: GTF2A1 (Varview), SNORA79 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000036/5 (GnomAD)
T=0.000038/10 (TOPMED)
HGVS:: NC_000014.9:g.81204390C>T, NC_000014.8:g.81670734C>T

Select item 147914514515.

rs1479145145 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:81202550 (GRCh38)
14:81668894 (GRCh37)
Canonical SPDI:: NC_000014.9:81202549:A:G
Gene:: GTF2A1 (Varview), SNORA79 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.81202550A>G, NC_000014.8:g.81668894A>G

Select item 147551560616.

rs1475515606 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:81202736 (GRCh38)
14:81669080 (GRCh37)
Canonical SPDI:: NC_000014.9:81202735:T:C
Gene:: GTF2A1 (Varview), SNORA79 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000034/9 (TOPMED)
HGVS:: NC_000014.9:g.81202736T>C, NC_000014.8:g.81669080T>C, NR_003021.2:n.99A>G

Select item 147385065917.

rs1473850659 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 14:81203806 (GRCh38)
14:81670150 (GRCh37)
Canonical SPDI:: NC_000014.9:81203805:A:C
Gene:: GTF2A1 (Varview), SNORA79 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.81203806A>C, NC_000014.8:g.81670150A>C

Select item 147326358518.

rs1473263585 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:81203462 (GRCh38)
14:81669806 (GRCh37)
Canonical SPDI:: NC_000014.9:81203461:T:C
Gene:: GTF2A1 (Varview), SNORA79 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_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_000014.9:g.81203462T>C, NC_000014.8:g.81669806T>C

Select item 146868336119.

rs1468683361 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:81202886 (GRCh38)
14:81669230 (GRCh37)
Canonical SPDI:: NC_000014.9:81202885:G:A
Gene:: GTF2A1 (Varview), SNORA79 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.81202886G>A, NC_000014.8:g.81669230G>A

Select item 146778189520.

rs1467781895 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 14:81202634 (GRCh38)
14:81668978 (GRCh37)
Canonical SPDI:: NC_000014.9:81202633:AAAA:AAA
Gene:: GTF2A1 (Varview), SNORA79 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.81202637del, NC_000014.8:g.81668981del

dbSNP

Result Filters

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 606

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity