SNP Links for Gene (Select 64976) - SNP

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Select item 14910550821.

rs1491055082 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 22:19434219 (GRCh38)
22:19421743 (GRCh37)
Canonical SPDI:: NC_000022.11:19434219::C
Gene:: MRPL40 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000022.11:g.19434219_19434220insC, NC_000022.10:g.19421742_19421743insC, NG_009231.2:g.2477_2478insG

Select item 14903853612.

rs1490385361 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 22:19435343 (GRCh38)
22:19422866 (GRCh37)
Canonical SPDI:: NC_000022.11:19435342:C:G,NC_000022.11:19435342:C:T
Gene:: MRPL40 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.19435343C>G, NC_000022.11:g.19435343C>T, NC_000022.10:g.19422866C>G, NC_000022.10:g.19422866C>T, NG_009231.2:g.1354G>C, NG_009231.2:g.1354G>A

Select item 14891215163.

rs1489121516 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:19432526 (GRCh38)
22:19420049 (GRCh37)
Canonical SPDI:: NC_000022.11:19432525:G:A
Gene:: HIRA (Varview), MRPL40 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000022.11:g.19432526G>A, NC_000022.10:g.19420049G>A, NG_009231.2:g.4171C>T, NM_003776.3:c.-29G>A, NM_003776.2:c.-29G>A, NM_001318151.1:c.-413G>A

Select item 14888282994.

rs1488828299 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:19435906 (GRCh38)
22:19423429 (GRCh37)
Canonical SPDI:: NC_000022.11:19435905:G:A
Gene:: MRPL40 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000022.11:g.19435906G>A, NC_000022.10:g.19423429G>A, NG_009231.2:g.791C>T, NM_003776.4:c.565G>A, NM_003776.3:c.565G>A, NM_003776.2:c.565G>A, NM_001318151.2:c.433G>A, NM_001318151.1:c.433G>A, NM_001318152.1:c.433G>A, NP_003767.2:p.Glu189Lys, NP_001305080.1:p.Glu145Lys

Select item 14887624965.

rs1488762496 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:19432311 (GRCh38)
22:19419834 (GRCh37)
Canonical SPDI:: NC_000022.11:19432310:A:G
Gene:: HIRA (Varview), MRPL40 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000022.11:g.19432311A>G, NC_000022.10:g.19419834A>G, NG_009231.2:g.4386T>C, NM_003776.3:c.-244A>G

Select item 14885672816.

rs1488567281 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:19435651 (GRCh38)
22:19423174 (GRCh37)
Canonical SPDI:: NC_000022.11:19435650:G:A
Gene:: MRPL40 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000022.11:g.19435651G>A, NC_000022.10:g.19423174G>A, NG_009231.2:g.1046C>T, NM_003776.4:c.310G>A, NM_003776.3:c.310G>A, NM_003776.2:c.310G>A, NM_001318151.2:c.178G>A, NM_001318151.1:c.178G>A, NM_001318152.1:c.178G>A, NP_003767.2:p.Val104Met, NP_001305080.1:p.Val60Met

Select item 14884034637.

rs1488403463 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 22:19430493 (GRCh38)
22:19418016 (GRCh37)
Canonical SPDI:: NC_000022.11:19430492:C:A
Gene:: HIRA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
A=0.004673/1 (Vietnamese)
HGVS:: NC_000022.11:g.19430493C>A, NC_000022.10:g.19418016C>A, NG_009231.2:g.6204G>T

Select item 14879158978.

rs1487915897 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:19434485 (GRCh38)
22:19422008 (GRCh37)
Canonical SPDI:: NC_000022.11:19434484:A:G
Gene:: MRPL40 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000212/4 (TOMMO)
G=0.000342/1 (KOREAN)
HGVS:: NC_000022.11:g.19434485A>G, NC_000022.10:g.19422008A>G, NG_009231.2:g.2212T>C

Select item 14877232979.

rs1487723297 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 22:19432391 (GRCh38)
22:19419914 (GRCh37)
Canonical SPDI:: NC_000022.11:19432390:A:T
Gene:: HIRA (Varview), MRPL40 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000022.11:g.19432391A>T, NC_000022.10:g.19419914A>T, NG_009231.2:g.4306T>A, NM_003776.3:c.-164A>T

Select item 148767572810.

rs1487675728 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 22:19430672 (GRCh38)
22:19418195 (GRCh37)
Canonical SPDI:: NC_000022.11:19430671:C:A,NC_000022.11:19430671:C:G,NC_000022.11:19430671:C:T
Gene:: HIRA (Varview), MRPL40 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00011/2 (TOMMO)
HGVS:: NC_000022.11:g.19430672C>A, NC_000022.11:g.19430672C>G, NC_000022.11:g.19430672C>T, NC_000022.10:g.19418195C>A, NC_000022.10:g.19418195C>G, NC_000022.10:g.19418195C>T, NG_009231.2:g.6025G>T, NG_009231.2:g.6025G>C, NG_009231.2:g.6025G>A

Select item 148759669111.

rs1487596691 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:19434130 (GRCh38)
22:19421653 (GRCh37)
Canonical SPDI:: NC_000022.11:19434129:G:A
Gene:: MRPL40 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000022.11:g.19434130G>A, NC_000022.10:g.19421653G>A, NG_009231.2:g.2567C>T

Select item 148719197212.

rs1487191972 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 22:19431306 (GRCh38)
22:19418829 (GRCh37)
Canonical SPDI:: NC_000022.11:19431305:G:T
Gene:: HIRA (Varview), MRPL40 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.19431306G>T, NC_000022.10:g.19418829G>T, NG_009231.2:g.5391C>A

Select item 148715401313.

rs1487154013 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:19432921 (GRCh38)
22:19420444 (GRCh37)
Canonical SPDI:: NC_000022.11:19432920:G:A
Gene:: HIRA (Varview), MRPL40 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000021/3 (GnomAD)
A=0.00006/16 (TOPMED)
HGVS:: NC_000022.11:g.19432921G>A, NC_000022.10:g.19420444G>A, NG_009231.2:g.3776C>T

Select item 148693632314.

rs1486936323 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 22:19434202 (GRCh38)
22:19421725 (GRCh37)
Canonical SPDI:: NC_000022.11:19434201:TT:
Gene:: MRPL40 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000015/2 (GnomAD)
HGVS:: NC_000022.11:g.19434202_19434203del, NC_000022.10:g.19421725_19421726del, NG_009231.2:g.2494_2495del

Select item 148644501915.

rs1486445019 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:19432132 (GRCh38)
22:19419655 (GRCh37)
Canonical SPDI:: NC_000022.11:19432131:C:G
Gene:: HIRA (Varview), MRPL40 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000054/1 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000223/1 (Estonian)
HGVS:: NC_000022.11:g.19432132C>G, NC_000022.10:g.19419655C>G, NG_009231.2:g.4565G>C, NM_003776.3:c.-423C>G

Select item 148575725416.

rs1485757254 [Homo sapiens]

Variant type:: DEL
Alleles:: TTTG>- [Show Flanks]
Chromosome:: 22:19434238 (GRCh38)
22:19421761 (GRCh37)
Canonical SPDI:: NC_000022.11:19434237:TTTG:
Gene:: MRPL40 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000797/13 (ALFA)
-=0.000181/23 (GnomAD)
HGVS:: NC_000022.11:g.19434238_19434241del, NC_000022.10:g.19421761_19421764del, NG_009231.2:g.2456_2459del

Select item 148550246317.

rs1485502463 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:19435148 (GRCh38)
22:19422671 (GRCh37)
Canonical SPDI:: NC_000022.11:19435147:T:C
Gene:: MRPL40 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.19435148T>C, NC_000022.10:g.19422671T>C, NG_009231.2:g.1549A>G

Select item 148546069718.

rs1485460697 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:19432246 (GRCh38)
22:19419769 (GRCh37)
Canonical SPDI:: NC_000022.11:19432245:G:A
Gene:: HIRA (Varview), MRPL40 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_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_000022.11:g.19432246G>A, NC_000022.10:g.19419769G>A, NG_009231.2:g.4451C>T, NM_003776.3:c.-309G>A

Select item 148503051919.

rs1485030519 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:19436141 (GRCh38)
22:19423664 (GRCh37)
Canonical SPDI:: NC_000022.11:19436140:T:C
Gene:: MRPL40 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000038/10 (TOPMED)
C=0.000043/6 (GnomAD)
HGVS:: NC_000022.11:g.19436141T>C, NC_000022.10:g.19423664T>C, NG_009231.2:g.556A>G

Select item 148402591620.

rs1484025916 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCGCGAGGGCGC>- [Show Flanks]
Chromosome:: 22:19432251 (GRCh38)
22:19419774 (GRCh37)
Canonical SPDI:: NC_000022.11:19432249:CGCGCGAGGGCGC:C
Gene:: HIRA (Varview), MRPL40 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000022.11:g.19432251_19432262del, NC_000022.10:g.19419774_19419785del, NG_009231.2:g.4436_4447del, NM_003776.3:c.-304_-293del

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