SNP Links for Gene (Select 51263) - SNP

Links from Gene

Items: 1 to 20 of 4601

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Select item 14907518991.

rs1490751899 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:99199202 (GRCh38)
2:99815665 (GRCh37)
Canonical SPDI:: NC_000002.12:99199201:G:A
Gene:: MRPL30 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000002.12:g.99199202G>A, NC_000002.11:g.99815665G>A, NM_145212.4:c.*3497G>A, NM_145212.3:c.*3497G>A, NR_028356.2:n.2679G>A, NR_028356.1:n.2784G>A

Select item 14907024672.

rs1490702467 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:99182823 (GRCh38)
2:99799286 (GRCh37)
Canonical SPDI:: NC_000002.12:99182822:A:G
Gene:: MRPL30 (Varview), MITD1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000002.12:g.99182823A>G, NC_000002.11:g.99799286A>G

Select item 14906773943.

rs1490677394 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 2:99181905 (GRCh38)
2:99798369 (GRCh37)
Canonical SPDI:: NC_000002.12:99181905:TTTTT:TTTTTT
Gene:: MRPL30 (Varview), MITD1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.99181910dup, NC_000002.11:g.99798373dup

Select item 14906670714.

rs1490667071 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:99188045 (GRCh38)
2:99804508 (GRCh37)
Canonical SPDI:: NC_000002.12:99188044:C:A,NC_000002.12:99188044:C:T
Gene:: MRPL30 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.99188045C>A, NC_000002.12:g.99188045C>T, NC_000002.11:g.99804508C>A, NC_000002.11:g.99804508C>T

Select item 14906512105.

rs1490651210 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:99181986 (GRCh38)
2:99798449 (GRCh37)
Canonical SPDI:: NC_000002.12:99181985:C:T
Gene:: MRPL30 (Varview), MITD1 (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)
HGVS:: NC_000002.12:g.99181986C>T, NC_000002.11:g.99798449C>T

Select item 14904427386.

rs1490442738 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:99190007 (GRCh38)
2:99806470 (GRCh37)
Canonical SPDI:: NC_000002.12:99190006:C:G,NC_000002.12:99190006:C:T
Gene:: MRPL30 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.99190007C>G, NC_000002.12:g.99190007C>T, NC_000002.11:g.99806470C>G, NC_000002.11:g.99806470C>T

Select item 14902018667.

rs1490201866 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:99198604 (GRCh38)
2:99815067 (GRCh37)
Canonical SPDI:: NC_000002.12:99198603:G:A
Gene:: MRPL30 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
HGVS:: NC_000002.12:g.99198604G>A, NC_000002.11:g.99815067G>A, NM_145212.4:c.*2899G>A, NM_145212.3:c.*2899G>A, NR_028356.2:n.2081G>A, NR_028356.1:n.2186G>A

Select item 14901777018.

rs1490177701 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:99189307 (GRCh38)
2:99805770 (GRCh37)
Canonical SPDI:: NC_000002.12:99189306:A:G
Gene:: MRPL30 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.99189307A>G, NC_000002.11:g.99805770A>G

Select item 14901209689.

rs1490120968 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:99186708 (GRCh38)
2:99803171 (GRCh37)
Canonical SPDI:: NC_000002.12:99186707:C:A
Gene:: MRPL30 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000045/12 (TOPMED)
A=0.000057/8 (GnomAD)
A=0.001027/3 (KOREAN)
HGVS:: NC_000002.12:g.99186708C>A, NC_000002.11:g.99803171C>A

Select item 148993621610.

rs1489936216 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:99199731 (GRCh38)
2:99816194 (GRCh37)
Canonical SPDI:: NC_000002.12:99199730:G:A
Gene:: MRPL30 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.99199731G>A, NC_000002.11:g.99816194G>A

Select item 148991214611.

rs1489912146 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:99184416 (GRCh38)
2:99800879 (GRCh37)
Canonical SPDI:: NC_000002.12:99184415:A:G
Gene:: MRPL30 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.99184416A>G, NC_000002.11:g.99800879A>G

Select item 148970663112.

rs1489706631 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTCCCAC [Show Flanks]
Chromosome:: 2:99186165 (GRCh38)
2:99802629 (GRCh37)
Canonical SPDI:: NC_000002.12:99186165:ACTTCCCAC:ACTTCCCACTTCCCAC
Gene:: MRPL30 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: ACTTCCC=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.99186168_99186174dup, NC_000002.11:g.99802631_99802637dup

Select item 148959673913.

rs1489596739 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:99189349 (GRCh38)
2:99805812 (GRCh37)
Canonical SPDI:: NC_000002.12:99189348:A:G
Gene:: MRPL30 (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)
HGVS:: NC_000002.12:g.99189349A>G, NC_000002.11:g.99805812A>G

Select item 148952492814.

rs1489524928 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:99189593 (GRCh38)
2:99806056 (GRCh37)
Canonical SPDI:: NC_000002.12:99189592:T:A
Gene:: MRPL30 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.99189593T>A, NC_000002.11:g.99806056T>A

Select item 148934103515.

rs1489341035 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:99185012 (GRCh38)
2:99801475 (GRCh37)
Canonical SPDI:: NC_000002.12:99185011:C:A
Gene:: MRPL30 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.99185012C>A, NC_000002.11:g.99801475C>A

Select item 148929065616.

rs1489290656 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 2:99198344 (GRCh38)
2:99814807 (GRCh37)
Canonical SPDI:: NC_000002.12:99198343:T:
Gene:: MRPL30 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000054/1 (ALFA)
-=0.000015/4 (TOPMED)
-=0.000021/3 (GnomAD)
-=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.99198344del, NC_000002.11:g.99814807del, NM_145212.4:c.*2639del, NM_145212.3:c.*2639del, NR_028356.2:n.1821del, NR_028356.1:n.1926del

Select item 148918564017.

rs1489185640 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:99196792 (GRCh38)
2:99813255 (GRCh37)
Canonical SPDI:: NC_000002.12:99196791:T:G
Gene:: MRPL30 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_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_000002.12:g.99196792T>G, NC_000002.11:g.99813255T>G, NM_145212.4:c.*1087T>G, NM_145212.3:c.*1087T>G

Select item 148914574118.

rs1489145741 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:99182058 (GRCh38)
2:99798521 (GRCh37)
Canonical SPDI:: NC_000002.12:99182057:C:T
Gene:: MRPL30 (Varview), MITD1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
T=0.000035/1 (TOMMO)
T=0.000156/1 (1000Genomes)
T=0.001369/4 (KOREAN)
HGVS:: NC_000002.12:g.99182058C>T, NC_000002.11:g.99798521C>T

Select item 148904454519.

rs1489044545 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:99179547 (GRCh38)
2:99796010 (GRCh37)
Canonical SPDI:: NC_000002.12:99179546:C:T
Gene:: MRPL30 (Varview), MITD1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.99179547C>T, NC_000002.11:g.99796010C>T

Select item 148882873820.

rs1488828738 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:99181320 (GRCh38)
2:99797783 (GRCh37)
Canonical SPDI:: NC_000002.12:99181319:C:T
Gene:: MRPL30 (Varview), MITD1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
HGVS:: NC_000002.12:g.99181320C>T, NC_000002.11:g.99797783C>T

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