SNP Links for Gene (Select 51264) - SNP

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Select item 14913360121.

rs1491336012 [Homo sapiens]

Variant type:: INS
Alleles:: ->TG,TGG,TTG [Show Flanks]
Chromosome:: 17:50372255 (GRCh38)
17:48449617 (GRCh37)
Canonical SPDI:: NC_000017.11:50372255::TG,NC_000017.11:50372255::TGG,NC_000017.11:50372255::TTG
Gene:: MRPL27 (Varview), EME1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGG=0./0 (ALFA)
HGVS:: NC_000017.11:g.50372255_50372256insTG, NC_000017.11:g.50372255_50372256insTGG, NC_000017.11:g.50372255_50372256insTTG, NC_000017.10:g.48449616_48449617insTG, NC_000017.10:g.48449616_48449617insTGG, NC_000017.10:g.48449616_48449617insTTG, NG_029665.1:g.4036_4037insTG, NG_029665.1:g.4036_4037insTGG, NG_029665.1:g.4036_4037insTTG

Select item 14904163522.

rs1490416352 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:50372715 (GRCh38)
17:48450076 (GRCh37)
Canonical SPDI:: NC_000017.11:50372714:G:C
Gene:: MRPL27 (Varview), EME1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.50372715G>C, NC_000017.10:g.48450076G>C, NG_029665.1:g.4496G>C

Select item 14895492643.

rs1489549264 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:50370962 (GRCh38)
17:48448323 (GRCh37)
Canonical SPDI:: NC_000017.11:50370961:G:A
Gene:: MRPL27 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.50370962G>A, NC_000017.10:g.48448323G>A, NG_029665.1:g.2743G>A

Select item 14894408044.

rs1489440804 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:50371241 (GRCh38)
17:48448602 (GRCh37)
Canonical SPDI:: NC_000017.11:50371240:G:A,NC_000017.11:50371240:G:C
Gene:: MRPL27 (Varview), EME1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000076/20 (TOPMED)
C=0.000342/1 (KOREAN)
C=0.000546/1 (Korea1K)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000017.11:g.50371241G>A, NC_000017.11:g.50371241G>C, NC_000017.10:g.48448602G>A, NC_000017.10:g.48448602G>C, NG_029665.1:g.3022G>A, NG_029665.1:g.3022G>C

Select item 14890786035.

rs1489078603 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 17:50371870 (GRCh38)
17:48449231 (GRCh37)
Canonical SPDI:: NC_000017.11:50371869:T:C,NC_000017.11:50371869:T:G
Gene:: MRPL27 (Varview), EME1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000017.11:g.50371870T>C, NC_000017.11:g.50371870T>G, NC_000017.10:g.48449231T>C, NC_000017.10:g.48449231T>G, NG_029665.1:g.3651T>C, NG_029665.1:g.3651T>G

Select item 14890509126.

rs1489050912 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:50372791 (GRCh38)
17:48450152 (GRCh37)
Canonical SPDI:: NC_000017.11:50372790:C:T
Gene:: MRPL27 (Varview), EME1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.50372791C>T, NC_000017.10:g.48450152C>T, NG_029665.1:g.4572C>T

Select item 14881960577.

rs1488196057 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:50370361 (GRCh38)
17:48447722 (GRCh37)
Canonical SPDI:: NC_000017.11:50370360:G:A
Gene:: MRPL27 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
A=0.000342/1 (KOREAN)
A=0.001092/2 (Korea1K)
HGVS:: NC_000017.11:g.50370361G>A, NC_000017.10:g.48447722G>A, NG_029665.1:g.2142G>A

Select item 14875883368.

rs1487588336 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TA [Show Flanks]
Chromosome:: 17:50370091 (GRCh38)
17:48447453 (GRCh37)
Canonical SPDI:: NC_000017.11:50370091:ATA:ATATA
Gene:: MRPL27 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATA=0./0 (ALFA)
AT=0.000004/1 (GnomAD_exomes)
AT=0.000014/2 (GnomAD)
AT=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.50370093_50370094dup, NC_000017.10:g.48447454_48447455dup, NG_029665.1:g.1874_1875dup, NM_016504.3:c.179_180dup, NM_016504.2:c.179_180dup, NM_148570.1:c.14_15dup, NM_148571.1:c.179_180dup, NP_057588.1:p.Val61fs

Select item 14868489929.

rs1486848992 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:50368295 (GRCh38)
17:48445656 (GRCh37)
Canonical SPDI:: NC_000017.11:50368294:C:T
Gene:: MRPL27 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000017.11:g.50368295C>T, NC_000017.10:g.48445656C>T, NG_029665.1:g.76C>T, NM_016504.3:c.244G>A, NM_016504.2:c.244G>A, NM_148570.1:c.79G>A, NM_148571.1:c.*1692G>A, NP_057588.1:p.Gly82Ser

Select item 148567863110.

rs1485678631 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:50372295 (GRCh38)
17:48449656 (GRCh37)
Canonical SPDI:: NC_000017.11:50372294:G:C
Gene:: MRPL27 (Varview), EME1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000447/2 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000156/1 (1000Genomes)
C=0.000446/2 (Estonian)
C=0.000495/8 (TOMMO)
HGVS:: NC_000017.11:g.50372295G>C, NC_000017.10:g.48449656G>C, NG_029665.1:g.4076G>C

Select item 148527101311.

rs1485271013 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:50371224 (GRCh38)
17:48448585 (GRCh37)
Canonical SPDI:: NC_000017.11:50371223:C:T
Gene:: MRPL27 (Varview)
Functional Consequence:: intron_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_000017.11:g.50371224C>T, NC_000017.10:g.48448585C>T, NG_029665.1:g.3005C>T

Select item 148413000912.

rs1484130009 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:50375139 (GRCh38)
17:48452500 (GRCh37)
Canonical SPDI:: NC_000017.11:50375138:T:C
Gene:: MRPL27 (Varview), EME1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.50375139T>C, NC_000017.10:g.48452500T>C, NG_029665.1:g.6920T>C, XM_047435470.1:c.-70T>C

Select item 148367932113.

rs1483679321 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:50367827 (GRCh38)
17:48445188 (GRCh37)
Canonical SPDI:: NC_000017.11:50367826:G:A
Gene:: MRPL27 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000045/12 (TOPMED)
A=0.000057/8 (GnomAD)
HGVS:: NC_000017.11:g.50367827G>A, NC_000017.10:g.48445188G>A

Select item 148329576514.

rs1483295765 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:50369364 (GRCh38)
17:48446725 (GRCh37)
Canonical SPDI:: NC_000017.11:50369363:T:C
Gene:: MRPL27 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000057/8 (GnomAD)
C=0.000091/24 (TOPMED)
C=0.000312/2 (1000Genomes)
C=0.000342/1 (KOREAN)
HGVS:: NC_000017.11:g.50369364T>C, NC_000017.10:g.48446725T>C, NG_029665.1:g.1145T>C, NM_148571.1:c.*623A>G

Select item 148309612415.

rs1483096124 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:50368002 (GRCh38)
17:48445363 (GRCh37)
Canonical SPDI:: NC_000017.11:50368001:G:A,NC_000017.11:50368001:G:T
Gene:: MRPL27 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.50368002G>A, NC_000017.11:g.50368002G>T, NC_000017.10:g.48445363G>A, NC_000017.10:g.48445363G>T, NM_016504.3:c.*90C>T, NM_016504.3:c.*90C>A, NM_016504.2:c.*90C>T, NM_016504.2:c.*90C>A, NM_148570.1:c.*90C>T, NM_148570.1:c.*90C>A, NM_148571.1:c.*1985C>T, NM_148571.1:c.*1985C>A

Select item 148241987416.

rs1482419874 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:50369526 (GRCh38)
17:48446887 (GRCh37)
Canonical SPDI:: NC_000017.11:50369525:C:G,NC_000017.11:50369525:C:T
Gene:: MRPL27 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.50369526C>G, NC_000017.11:g.50369526C>T, NC_000017.10:g.48446887C>G, NC_000017.10:g.48446887C>T, NG_029665.1:g.1307C>G, NG_029665.1:g.1307C>T, NM_148571.1:c.*461G>C, NM_148571.1:c.*461G>A

Select item 148207630217.

rs1482076302 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:50374497 (GRCh38)
17:48451858 (GRCh37)
Canonical SPDI:: NC_000017.11:50374496:C:T
Gene:: MRPL27 (Varview), EME1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.50374497C>T, NC_000017.10:g.48451858C>T, NG_029665.1:g.6278C>T, XM_047435470.1:c.-712C>T

Select item 148202466418.

rs1482024664 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:50374624 (GRCh38)
17:48451985 (GRCh37)
Canonical SPDI:: NC_000017.11:50374623:G:A
Gene:: MRPL27 (Varview), EME1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000216/4 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000043/6 (GnomAD)
A=0.000893/4 (Estonian)
HGVS:: NC_000017.11:g.50374624G>A, NC_000017.10:g.48451985G>A, NG_029665.1:g.6405G>A, XM_047435470.1:c.-585G>A

Select item 148192253619.

rs1481922536 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:50372588 (GRCh38)
17:48449949 (GRCh37)
Canonical SPDI:: NC_000017.11:50372587:C:T
Gene:: MRPL27 (Varview), EME1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.50372588C>T, NC_000017.10:g.48449949C>T, NG_029665.1:g.4369C>T

Select item 148107524720.

rs1481075247 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:50368309 (GRCh38)
17:48445670 (GRCh37)
Canonical SPDI:: NC_000017.11:50368308:C:T
Gene:: MRPL27 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000017.11:g.50368309C>T, NC_000017.10:g.48445670C>T, NG_029665.1:g.90C>T, NM_148571.1:c.*1678G>A

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