SNP Links for Gene (Select 7379) - SNP

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Select item 14907919951.

rs1490791995 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 11:118956509 (GRCh38)
11:118827219 (GRCh37)
Canonical SPDI:: NC_000011.10:118956508:A:C,NC_000011.10:118956508:A:T
Gene:: UPK2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.118956509A>C, NC_000011.10:g.118956509A>T, NC_000011.9:g.118827219A>C, NC_000011.9:g.118827219A>T

Select item 14902288912.

rs1490228891 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:118955415 (GRCh38)
11:118826125 (GRCh37)
Canonical SPDI:: NC_000011.10:118955414:G:T
Gene:: UPK2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.118955415G>T, NC_000011.9:g.118826125G>T

Select item 14902043763.

rs1490204376 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:118957953 (GRCh38)
11:118828663 (GRCh37)
Canonical SPDI:: NC_000011.10:118957952:T:C
Gene:: UPK2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.118957953T>C, NC_000011.9:g.118828663T>C

Select item 14896299534.

rs1489629953 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:118957712 (GRCh38)
11:118828422 (GRCh37)
Canonical SPDI:: NC_000011.10:118957711:A:G
Gene:: UPK2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000015/4 (TOPMED)
G=0.000043/6 (GnomAD)
HGVS:: NC_000011.10:g.118957712A>G, NC_000011.9:g.118828422A>G

Select item 14890771485.

rs1489077148 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 11:118957994 (GRCh38)
11:118828705 (GRCh37)
Canonical SPDI:: NC_000011.10:118957994:GG:GGG
Gene:: UPK2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.118957996dup, NC_000011.9:g.118828706dup

Select item 14890214256.

rs1489021425 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:118959024 (GRCh38)
11:118829734 (GRCh37)
Canonical SPDI:: NC_000011.10:118959023:T:A
Gene:: UPK2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.118959024T>A, NC_000011.9:g.118829734T>A

Select item 14889947087.

rs1488994708 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:118958826 (GRCh38)
11:118829536 (GRCh37)
Canonical SPDI:: NC_000011.10:118958825:C:G
Gene:: UPK2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000011.10:g.118958826C>G, NC_000011.9:g.118829536C>G

Select item 14889196588.

rs1488919658 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:118954760 (GRCh38)
11:118825470 (GRCh37)
Canonical SPDI:: NC_000011.10:118954759:A:G
Gene:: UPK2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_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_000011.10:g.118954760A>G, NC_000011.9:g.118825470A>G

Select item 14888697709.

rs1488869770 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:118955794 (GRCh38)
11:118826504 (GRCh37)
Canonical SPDI:: NC_000011.10:118955793:C:T
Gene:: UPK2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.118955794C>T, NC_000011.9:g.118826504C>T

Select item 148874660110.

rs1488746601 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:118958404 (GRCh38)
11:118829114 (GRCh37)
Canonical SPDI:: NC_000011.10:118958403:C:A
Gene:: UPK2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000026/7 (TOPMED)
HGVS:: NC_000011.10:g.118958404C>A, NC_000011.9:g.118829114C>A, NM_006760.4:c.*171C>A, NM_006760.3:c.*171C>A

Select item 148834175011.

rs1488341750 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTGGTTGGCTGG>- [Show Flanks]
Chromosome:: 11:118957961 (GRCh38)
11:118828671 (GRCh37)
Canonical SPDI:: NC_000011.10:118957957:TGGTTGGTTGGCTGG:TGG
Gene:: UPK2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGG=0./0 (ALFA)
HGVS:: NC_000011.10:g.118957961_118957972del, NC_000011.9:g.118828671_118828682del

Select item 148802145512.

rs1488021455 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:118957330 (GRCh38)
11:118828040 (GRCh37)
Canonical SPDI:: NC_000011.10:118957329:C:T
Gene:: UPK2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000011.10:g.118957330C>T, NC_000011.9:g.118828040C>T, NM_006760.4:c.331C>T, NM_006760.3:c.331C>T, NP_006751.1:p.Pro111Ser

Select item 148682999413.

rs1486829994 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:118956065 (GRCh38)
11:118826775 (GRCh37)
Canonical SPDI:: NC_000011.10:118956064:T:A
Gene:: UPK2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.118956065T>A, NC_000011.9:g.118826775T>A

Select item 148625791214.

rs1486257912 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:118954742 (GRCh38)
11:118825452 (GRCh37)
Canonical SPDI:: NC_000011.10:118954741:G:A
Gene:: UPK2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000011.10:g.118954742G>A, NC_000011.9:g.118825452G>A

Select item 148614970815.

rs1486149708 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:118956511 (GRCh38)
11:118827221 (GRCh37)
Canonical SPDI:: NC_000011.10:118956510:G:A
Gene:: UPK2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000011.10:g.118956511G>A, NC_000011.9:g.118827221G>A

Select item 148592826316.

rs1485928263 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:118956928 (GRCh38)
11:118827638 (GRCh37)
Canonical SPDI:: NC_000011.10:118956927:C:T
Gene:: UPK2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000012/3 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.118956928C>T, NC_000011.9:g.118827638C>T, NM_006760.4:c.122C>T, NM_006760.3:c.122C>T, NP_006751.1:p.Thr41Met

Select item 148570122917.

rs1485701229 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:118954546 (GRCh38)
11:118825256 (GRCh37)
Canonical SPDI:: NC_000011.10:118954545:T:G
Gene:: UPK2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.118954546T>G, NC_000011.9:g.118825256T>G

Select item 148550206818.

rs1485502068 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:118955534 (GRCh38)
11:118826244 (GRCh37)
Canonical SPDI:: NC_000011.10:118955533:A:T
Gene:: UPK2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.118955534A>T, NC_000011.9:g.118826244A>T

Select item 148507631819.

rs1485076318 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:118957002 (GRCh38)
11:118827712 (GRCh37)
Canonical SPDI:: NC_000011.10:118957001:A:G
Gene:: UPK2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000011.10:g.118957002A>G, NC_000011.9:g.118827712A>G, NM_006760.4:c.196A>G, NM_006760.3:c.196A>G, NP_006751.1:p.Asn66Asp

Select item 148384740220.

rs1483847402 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:118954510 (GRCh38)
11:118825220 (GRCh37)
Canonical SPDI:: NC_000011.10:118954509:G:A
Gene:: UPK2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/2 (GnomAD)
HGVS:: NC_000011.10:g.118954510G>A, NC_000011.9:g.118825220G>A

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