SNP Links for Gene (Select 85389) - SNP

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Items: 1 to 20 of 946

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Select item 14907469171.

rs1490746917 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:123061052 (GRCh38)
11:122931760 (GRCh37)
Canonical SPDI:: NC_000011.10:123061051:C:T
Gene:: HSPA8 (Varview), SNORD14C (Varview), LOC124902775 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.123061052C>T, NC_000011.9:g.122931760C>T, NG_029473.1:g.6085G>A

Select item 14904962392.

rs1490496239 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:123059633 (GRCh38)
11:122930341 (GRCh37)
Canonical SPDI:: NC_000011.10:123059632:G:A
Gene:: HSPA8 (Varview), SNORD14C (Varview), SNORD14D (Varview), SNORD14E (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.123059633G>A, NC_000011.9:g.122930341G>A, NG_029473.1:g.7504C>T, NM_006597.6:c.960C>T, NM_006597.5:c.960C>T, NM_153201.4:c.960C>T, NM_153201.3:c.960C>T, XM_011542798.2:c.960C>T, XM_011542798.1:c.960C>T

Select item 14903374333.

rs1490337433 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:123060051 (GRCh38)
11:122930759 (GRCh37)
Canonical SPDI:: NC_000011.10:123060050:T:C
Gene:: HSPA8 (Varview), SNORD14C (Varview), SNORD14D (Varview), SNORD14E (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.123060051T>C, NC_000011.9:g.122930759T>C, NG_029473.1:g.7086A>G

Select item 14902558854.

rs1490255885 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:123060858 (GRCh38)
11:122931566 (GRCh37)
Canonical SPDI:: NC_000011.10:123060857:G:A
Gene:: HSPA8 (Varview), SNORD14C (Varview), SNORD14D (Varview), LOC124902775 (Varview)
Functional Consequence:: intron_variant,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)
HGVS:: NC_000011.10:g.123060858G>A, NC_000011.9:g.122931566G>A, NG_029473.1:g.6279C>T

Select item 14884267355.

rs1488426735 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:123058887 (GRCh38)
11:122929595 (GRCh37)
Canonical SPDI:: NC_000011.10:123058886:G:A,NC_000011.10:123058886:G:C
Gene:: HSPA8 (Varview), SNORD14C (Varview), SNORD14D (Varview), SNORD14E (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.123058887G>A, NC_000011.10:g.123058887G>C, NC_000011.9:g.122929595G>A, NC_000011.9:g.122929595G>C, NG_029473.1:g.8250C>T, NG_029473.1:g.8250C>G

Select item 14871275606.

rs1487127560 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:123059395 (GRCh38)
11:122930103 (GRCh37)
Canonical SPDI:: NC_000011.10:123059394:A:C
Gene:: HSPA8 (Varview), SNORD14C (Varview), SNORD14D (Varview), SNORD14E (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00001/2 (GnomAD_exomes)
C=0.000015/4 (TOPMED)
C=0.000016/2 (GnomAD)
HGVS:: NC_000011.10:g.123059395A>C, NC_000011.9:g.122930103A>C, NG_029473.1:g.7742T>G, NR_001453.2:n.28T>G

Select item 14851851227.

rs1485185122 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:123059300 (GRCh38)
11:122930008 (GRCh37)
Canonical SPDI:: NC_000011.10:123059299:A:G
Gene:: HSPA8 (Varview), SNORD14C (Varview), SNORD14D (Varview), SNORD14E (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.123059300A>G, NC_000011.9:g.122930008A>G, NG_029473.1:g.7837T>C

Select item 14842150508.

rs1484215050 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGTTC>- [Show Flanks]
Chromosome:: 11:123059517 (GRCh38)
11:122930225 (GRCh37)
Canonical SPDI:: NC_000011.10:123059513:TTCAGTTC:TTC
Gene:: HSPA8 (Varview), SNORD14C (Varview), SNORD14D (Varview), SNORD14E (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.123059517_123059521del, NC_000011.9:g.122930225_122930229del, NG_029473.1:g.7619_7623del, NM_006597.6:c.1075_1079del, NM_006597.5:c.1075_1079del, NM_153201.4:c.1075_1079del, NM_153201.3:c.1075_1079del, XM_011542798.2:c.1075_1079del, XM_011542798.1:c.1075_1079del, NP_006588.1:p.Glu358_Leu359insTer, NP_694881.1:p.Glu358_Leu359insTer, XP_011541100.1:p.Glu358_Leu359insTer

Select item 14840056449.

rs1484005644 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:123060576 (GRCh38)
11:122931284 (GRCh37)
Canonical SPDI:: NC_000011.10:123060575:T:C
Gene:: HSPA8 (Varview), SNORD14C (Varview), SNORD14D (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.123060576T>C, NC_000011.9:g.122931284T>C, NG_029473.1:g.6561A>G

Select item 148318386710.

rs1483183867 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 11:123060472 (GRCh38)
11:122931181 (GRCh37)
Canonical SPDI:: NC_000011.10:123060472:GG:GGG
Gene:: HSPA8 (Varview), SNORD14C (Varview), SNORD14D (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: GGG=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.123060474dup, NC_000011.9:g.122931182dup, NG_029473.1:g.6664dup

Select item 148041136011.

rs1480411360 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:123059150 (GRCh38)
11:122929858 (GRCh37)
Canonical SPDI:: NC_000011.10:123059149:G:A,NC_000011.10:123059149:G:C
Gene:: HSPA8 (Varview), SNORD14C (Varview), SNORD14D (Varview), SNORD14E (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.123059150G>A, NC_000011.10:g.123059150G>C, NC_000011.9:g.122929858G>A, NC_000011.9:g.122929858G>C, NG_029473.1:g.7987C>T, NG_029473.1:g.7987C>G, NM_006597.6:c.1232C>T, NM_006597.6:c.1232C>G, NM_006597.5:c.1232C>T, NM_006597.5:c.1232C>G, NM_153201.4:c.1232C>T, NM_153201.4:c.1232C>G, NM_153201.3:c.1232C>T, NM_153201.3:c.1232C>G, XM_011542798.2:c.1232C>T, XM_011542798.2:c.1232C>G, XM_011542798.1:c.1232C>T, XM_011542798.1:c.1232C>G, NP_006588.1:p.Thr411Ile, NP_006588.1:p.Thr411Ser, NP_694881.1:p.Thr411Ile, NP_694881.1:p.Thr411Ser, XP_011541100.1:p.Thr411Ile, XP_011541100.1:p.Thr411Ser

Select item 148028796312.

rs1480287963 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 11:123061148 (GRCh38)
11:122931856 (GRCh37)
Canonical SPDI:: NC_000011.10:123061147:A:G,NC_000011.10:123061147:A:T
Gene:: HSPA8 (Varview), SNORD14C (Varview), LOC124902775 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.123061148A>G, NC_000011.10:g.123061148A>T, NC_000011.9:g.122931856A>G, NC_000011.9:g.122931856A>T, NG_029473.1:g.5989T>C, NG_029473.1:g.5989T>A, NM_006597.6:c.177T>C, NM_006597.6:c.177T>A, NM_006597.5:c.177T>C, NM_006597.5:c.177T>A, NM_153201.4:c.177T>C, NM_153201.4:c.177T>A, NM_153201.3:c.177T>C, NM_153201.3:c.177T>A, XM_011542798.2:c.177T>C, XM_011542798.2:c.177T>A, XM_011542798.1:c.177T>C, XM_011542798.1:c.177T>A

Select item 147977245313.

rs1479772453 [Homo sapiens]

Variant type:: DEL
Alleles:: AACTACCATA>- [Show Flanks]
Chromosome:: 11:123060904 (GRCh38)
11:122931612 (GRCh37)
Canonical SPDI:: NC_000011.10:123060903:AACTACCATA:
Gene:: HSPA8 (Varview), SNORD14C (Varview), SNORD14D (Varview), LOC124902775 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.123060904_123060913del, NC_000011.9:g.122931612_122931621del, NG_029473.1:g.6224_6233del

Select item 147940263014.

rs1479402630 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:123060319 (GRCh38)
11:122931027 (GRCh37)
Canonical SPDI:: NC_000011.10:123060318:T:C
Gene:: HSPA8 (Varview), SNORD14C (Varview), SNORD14D (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.123060319T>C, NC_000011.9:g.122931027T>C, NG_029473.1:g.6818A>G

Select item 147374911915.

rs1473749119 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTG [Show Flanks]
Chromosome:: 11:123060517 (GRCh38)
11:122931226 (GRCh37)
Canonical SPDI:: NC_000011.10:123060517:GGTG:GGTGGTG
Gene:: HSPA8 (Varview), SNORD14C (Varview), SNORD14D (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: GGTGGTG=0./0 (ALFA)
HGVS:: NC_000011.10:g.123060519_123060521dup, NC_000011.9:g.122931227_122931229dup, NG_029473.1:g.6617_6619dup

Select item 147349245016.

rs1473492450 [Homo sapiens]

Variant type:: DEL
Alleles:: AAC>- [Show Flanks]
Chromosome:: 11:123060551 (GRCh38)
11:122931259 (GRCh37)
Canonical SPDI:: NC_000011.10:123060550:AAC:
Gene:: HSPA8 (Varview), SNORD14C (Varview), SNORD14D (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.123060551_123060553del, NC_000011.9:g.122931259_122931261del, NG_029473.1:g.6584_6586del

Select item 147332327917.

rs1473323279 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 11:123058923 (GRCh38)
11:122929631 (GRCh37)
Canonical SPDI:: NC_000011.10:123058922:AA:A
Gene:: HSPA8 (Varview), SNORD14C (Varview), SNORD14D (Varview), SNORD14E (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: AA=0.000224/1 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.123058924del, NC_000011.9:g.122929632del, NG_029473.1:g.8214del, NR_001454.2:n.73del

Select item 147116281518.

rs1471162815 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:123058965 (GRCh38)
11:122929673 (GRCh37)
Canonical SPDI:: NC_000011.10:123058964:C:T
Gene:: HSPA8 (Varview), SNORD14C (Varview), SNORD14D (Varview), SNORD14E (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.123058965C>T, NC_000011.9:g.122929673C>T, NG_029473.1:g.8172G>A, NR_001454.2:n.31G>A

Select item 147053742519.

rs1470537425 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:123060692 (GRCh38)
11:122931400 (GRCh37)
Canonical SPDI:: NC_000011.10:123060691:T:C
Gene:: HSPA8 (Varview), SNORD14C (Varview), SNORD14D (Varview), LOC124902775 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
C=0.000672/11 (TOMMO)
HGVS:: NC_000011.10:g.123060692T>C, NC_000011.9:g.122931400T>C, NG_029473.1:g.6445A>G, NM_006597.6:c.312A>G, NM_006597.5:c.312A>G, NM_153201.4:c.312A>G, NM_153201.3:c.312A>G, XM_011542798.2:c.312A>G, XM_011542798.1:c.312A>G

Select item 147031341920.

rs1470313419 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:123061317 (GRCh38)
11:122932025 (GRCh37)
Canonical SPDI:: NC_000011.10:123061316:T:C
Gene:: HSPA8 (Varview), SNORD14C (Varview), LOC124902775 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_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_000011.10:g.123061317T>C, NC_000011.9:g.122932025T>C, NG_029473.1:g.5820A>G, NM_006597.6:c.8A>G, NM_006597.5:c.8A>G, NM_153201.4:c.8A>G, NM_153201.3:c.8A>G, XM_011542798.2:c.8A>G, XM_011542798.1:c.8A>G, NP_006588.1:p.Lys3Arg, NP_694881.1:p.Lys3Arg, XP_011541100.1:p.Lys3Arg

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