SNP Links for Gene (Select 3309) - SNP

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Select item 14915481331.

rs1491548133 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTTATATATACATGTATTTATATATGTATACATA [Show Flanks]
Chromosome:: 9:125234624 (GRCh38)
9:127996904 (GRCh37)
Canonical SPDI:: NC_000009.12:125234624:TATATATGTATACATATTTATATATACATGTATTTATATATGTATACATA:TATATATGTATACATATTTATATATACATGTATTTATATATGTATACATATTTATATATACATGTATTTATATATGTATACATA
Gene:: HSPA5 (Varview), RABEPK (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: TATATATGTATACATATTTATATATACATGTATT=0.000022/3 (GnomAD)
HGVS:: NC_000009.12:g.125234641_125234674dup, NC_000009.11:g.127996920_127996953dup, NG_027761.1:g.11730_11763dup

Select item 14907339342.

rs1490733934 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:125242630 (GRCh38)
9:128004909 (GRCh37)
Canonical SPDI:: NC_000009.12:125242629:G:A
Gene:: HSPA5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000009.12:g.125242630G>A, NC_000009.11:g.128004909G>A, NG_027761.1:g.3758C>T

Select item 14902563513.

rs1490256351 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:125236424 (GRCh38)
9:127998703 (GRCh37)
Canonical SPDI:: NC_000009.12:125236423:G:A
Gene:: HSPA5 (Varview)
Functional Consequence:: 3_prime_UTR_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_000009.12:g.125236424G>A, NC_000009.11:g.127998703G>A, NG_027761.1:g.9964C>T, NM_005347.5:c.*168C>T, NM_005347.4:c.*168C>T

Select item 14895612574.

rs1489561257 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:125235248 (GRCh38)
9:127997527 (GRCh37)
Canonical SPDI:: NC_000009.12:125235247:C:A
Gene:: HSPA5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.125235248C>A, NC_000009.11:g.127997527C>A, NG_027761.1:g.11140G>T, NM_005347.5:c.*1344G>T, NM_005347.4:c.*1344G>T

Select item 14895006025.

rs1489500602 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:125237653 (GRCh38)
9:127999932 (GRCh37)
Canonical SPDI:: NC_000009.12:125237652:C:T
Gene:: HSPA5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
T=0.000071/1 (TOMMO)
HGVS:: NC_000009.12:g.125237653C>T, NC_000009.11:g.127999932C>T, NG_027761.1:g.8735G>A

Select item 14890620186.

rs1489062018 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:125238313 (GRCh38)
9:128000592 (GRCh37)
Canonical SPDI:: NC_000009.12:125238312:A:G
Gene:: HSPA5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.125238313A>G, NC_000009.11:g.128000592A>G, NG_027761.1:g.8075T>C

Select item 14884786477.

rs1488478647 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:125242022 (GRCh38)
9:128004301 (GRCh37)
Canonical SPDI:: NC_000009.12:125242021:C:T
Gene:: HSPA5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000009.12:g.125242022C>T, NC_000009.11:g.128004301C>T, NG_027761.1:g.4366G>A

Select item 14884365638.

rs1488436563 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:125240383 (GRCh38)
9:128002662 (GRCh37)
Canonical SPDI:: NC_000009.12:125240382:C:T
Gene:: HSPA5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000009.12:g.125240383C>T, NC_000009.11:g.128002662C>T, NG_027761.1:g.6005G>A

Select item 14883398869.

rs1488339886 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:125238818 (GRCh38)
9:128001097 (GRCh37)
Canonical SPDI:: NC_000009.12:125238817:G:A
Gene:: HSPA5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000009.12:g.125238818G>A, NC_000009.11:g.128001097G>A, NG_027761.1:g.7570C>T, NM_005347.5:c.1006C>T, NM_005347.4:c.1006C>T, NP_005338.1:p.Arg336Trp

Select item 148822544110.

rs1488225441 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 9:125237384 (GRCh38)
9:127999663 (GRCh37)
Canonical SPDI:: NC_000009.12:125237383:T:A
Gene:: HSPA5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.125237384T>A, NC_000009.11:g.127999663T>A, NG_027761.1:g.9004A>T

Select item 148808102411.

rs1488081024 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:125241615 (GRCh38)
9:128003894 (GRCh37)
Canonical SPDI:: NC_000009.12:125241614:C:T
Gene:: HSPA5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000447/2 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000446/2 (Estonian)
HGVS:: NC_000009.12:g.125241615C>T, NC_000009.11:g.128003894C>T, NG_027761.1:g.4773G>A, NG_063123.1:g.346C>T

Select item 148744195012.

rs1487441950 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:125235573 (GRCh38)
9:127997852 (GRCh37)
Canonical SPDI:: NC_000009.12:125235572:C:G
Gene:: HSPA5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000038/10 (TOPMED)
HGVS:: NC_000009.12:g.125235573C>G, NC_000009.11:g.127997852C>G, NG_027761.1:g.10815G>C, NM_005347.5:c.*1019G>C, NM_005347.4:c.*1019G>C

Select item 148697176213.

rs1486971762 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:125235712 (GRCh38)
9:127997991 (GRCh37)
Canonical SPDI:: NC_000009.12:125235711:G:T
Gene:: HSPA5 (Varview)
Functional Consequence:: 3_prime_UTR_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_000009.12:g.125235712G>T, NC_000009.11:g.127997991G>T, NG_027761.1:g.10676C>A, NM_005347.5:c.*880C>A, NM_005347.4:c.*880C>A

Select item 148677848514.

rs1486778485 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:125238725 (GRCh38)
9:128001004 (GRCh37)
Canonical SPDI:: NC_000009.12:125238724:G:T
Gene:: HSPA5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000009.12:g.125238725G>T, NC_000009.11:g.128001004G>T, NG_027761.1:g.7663C>A, NM_005347.5:c.1099C>A, NM_005347.4:c.1099C>A

Select item 148612762815.

rs1486127628 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:125243074 (GRCh38)
9:128005353 (GRCh37)
Canonical SPDI:: NC_000009.12:125243073:T:C
Gene:: HSPA5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000009.12:g.125243074T>C, NC_000009.11:g.128005353T>C, NG_027761.1:g.3314A>G

Select item 148513015016.

rs1485130150 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:125237809 (GRCh38)
9:128000088 (GRCh37)
Canonical SPDI:: NC_000009.12:125237808:C:T
Gene:: HSPA5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000009.12:g.125237809C>T, NC_000009.11:g.128000088C>T, NG_027761.1:g.8579G>A

Select item 148487208217.

rs1484872082 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:125235477 (GRCh38)
9:127997756 (GRCh37)
Canonical SPDI:: NC_000009.12:125235476:A:G
Gene:: HSPA5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000342/1 (KOREAN)
HGVS:: NC_000009.12:g.125235477A>G, NC_000009.11:g.127997756A>G, NG_027761.1:g.10911T>C, NM_005347.5:c.*1115T>C, NM_005347.4:c.*1115T>C

Select item 148461128818.

rs1484611288 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:125240981 (GRCh38)
9:128003260 (GRCh37)
Canonical SPDI:: NC_000009.12:125240980:C:G
Gene:: HSPA5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000009.12:g.125240981C>G, NC_000009.11:g.128003260C>G, NG_027761.1:g.5407G>C

Select item 148438761219.

rs1484387612 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CAG [Show Flanks]
Chromosome:: 9:125236626 (GRCh38)
9:127998906 (GRCh37)
Canonical SPDI:: NC_000009.12:125236626:CAG:CAGCAG
Gene:: HSPA5 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_insertion
Validated:: by frequency,by alfa,by cluster
MAF:: CAGCAG=0./0 (ALFA)
CAG=0.000004/1 (GnomAD_exomes)
CAG=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.125236627_125236629dup, NC_000009.11:g.127998906_127998908dup, NG_027761.1:g.9759_9761dup, NM_005347.5:c.1928_1930dup, NM_005347.4:c.1928_1930dup, NP_005338.1:p.Gly644_Glu645insAla

Select item 148337567120.

rs1483375671 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:125238095 (GRCh38)
9:128000374 (GRCh37)
Canonical SPDI:: NC_000009.12:125238094:T:C
Gene:: HSPA5 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000009.12:g.125238095T>C, NC_000009.11:g.128000374T>C, NG_027761.1:g.8293A>G

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