SNP Links for Gene (Select 63875) - SNP

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Links from Gene

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Select item 14902980931.

rs1490298093 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:6683382 (GRCh38)
11:6704613 (GRCh37)
Canonical SPDI:: NC_000011.10:6683381:G:A
Gene:: MRPL17 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000023/6 (TOPMED)
HGVS:: NC_000011.10:g.6683382G>A, NC_000011.9:g.6704613G>A, NM_022061.3:c.-86C>T

Select item 14902692092.

rs1490269209 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:6682592 (GRCh38)
11:6703823 (GRCh37)
Canonical SPDI:: NC_000011.10:6682591:G:A
Gene:: MRPL17 (Varview)
Functional Consequence:: intron_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_000011.10:g.6682592G>A, NC_000011.9:g.6703823G>A

Select item 14900570943.

rs1490057094 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:6679952 (GRCh38)
11:6701183 (GRCh37)
Canonical SPDI:: NC_000011.10:6679951:G:A
Gene:: MRPL17 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000026/7 (TOPMED)
HGVS:: NC_000011.10:g.6679952G>A, NC_000011.9:g.6701183G>A

Select item 14894764884.

rs1489476488 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:6680257 (GRCh38)
11:6701488 (GRCh37)
Canonical SPDI:: NC_000011.10:6680256:G:C
Gene:: MRPL17 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000011.10:g.6680257G>C, NC_000011.9:g.6701488G>C

Select item 14891663275.

rs1489166327 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:6683603 (GRCh38)
11:6704834 (GRCh37)
Canonical SPDI:: NC_000011.10:6683602:T:C
Gene:: MRPL17 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.6683603T>C, NC_000011.9:g.6704834T>C

Select item 14884062806.

rs1488406280 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTTT>- [Show Flanks]
Chromosome:: 11:6683989 (GRCh38)
11:6705220 (GRCh37)
Canonical SPDI:: NC_000011.10:6683984:GTTTGTTT:GTTT
Gene:: MRPL17 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTTTGTTT=0.000071/1 (ALFA)
-=0.00003/8 (TOPMED)
-=0.000036/5 (GnomAD)
HGVS:: NC_000011.10:g.6683985GTTT[1], NC_000011.9:g.6705216GTTT[1]

Select item 14882059517.

rs1488205951 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:6684800 (GRCh38)
11:6706031 (GRCh37)
Canonical SPDI:: NC_000011.10:6684799:G:T
Gene:: MRPL17 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.6684800G>T, NC_000011.9:g.6706031G>T

Select item 14879867768.

rs1487986776 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 11:6681568 (GRCh38)
11:6702800 (GRCh37)
Canonical SPDI:: NC_000011.10:6681568:A:AA
Gene:: MRPL17 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.6681569dup, NC_000011.9:g.6702800dup, NM_022061.4:c.*549dup, NM_022061.3:c.*549dup

Select item 14879845599.

rs1487984559 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:6684613 (GRCh38)
11:6705844 (GRCh37)
Canonical SPDI:: NC_000011.10:6684612:A:C
Gene:: MRPL17 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.0002/1 (ALFA)
C=0.0002/1 (Estonian)
HGVS:: NC_000011.10:g.6684613A>C, NC_000011.9:g.6705844A>C

Select item 148757304710.

rs1487573047 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 11:6680875 (GRCh38)
11:6702106 (GRCh37)
Canonical SPDI:: NC_000011.10:6680873:ATA:A
Gene:: MRPL17 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.6680875_6680876del, NC_000011.9:g.6702106_6702107del, NM_022061.4:c.*1243_*1244del, NM_022061.3:c.*1243_*1244del

Select item 148751638811.

rs1487516388 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:6684027 (GRCh38)
11:6705258 (GRCh37)
Canonical SPDI:: NC_000011.10:6684026:T:C
Gene:: MRPL17 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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.6684027T>C, NC_000011.9:g.6705258T>C

Select item 148748580612.

rs1487485806 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:6683693 (GRCh38)
11:6704924 (GRCh37)
Canonical SPDI:: NC_000011.10:6683692:G:C
Gene:: MRPL17 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000038/10 (TOPMED)
HGVS:: NC_000011.10:g.6683693G>C, NC_000011.9:g.6704924G>C

Select item 148662625713.

rs1486626257 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:6682749 (GRCh38)
11:6703980 (GRCh37)
Canonical SPDI:: NC_000011.10:6682748:T:A
Gene:: MRPL17 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.6682749T>A, NC_000011.9:g.6703980T>A, NM_022061.4:c.241A>T, NM_022061.3:c.241A>T, NP_071344.1:p.Thr81Ser

Select item 148624657714.

rs1486246577 [Homo sapiens]

Variant type:: DELINS
Alleles:: CATGGTGCC>- [Show Flanks]
Chromosome:: 11:6683160 (GRCh38)
11:6704391 (GRCh37)
Canonical SPDI:: NC_000011.10:6683156:GCCCATGGTGCC:GCC
Gene:: MRPL17 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.6683160_6683168del, NC_000011.9:g.6704391_6704399del, NM_022061.4:c.132_140del, NM_022061.3:c.132_140del, NP_071344.1:p.Pro45_Ala47del

Select item 148471483315.

rs1484714833 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:6682500 (GRCh38)
11:6703731 (GRCh37)
Canonical SPDI:: NC_000011.10:6682499:G:C
Gene:: MRPL17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000011.10:g.6682500G>C, NC_000011.9:g.6703731G>C

Select item 148448866616.

rs1484488666 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 11:6680343 (GRCh38)
11:6701575 (GRCh37)
Canonical SPDI:: NC_000011.10:6680343:G:GG
Gene:: MRPL17 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0.000066/1 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000011.10:g.6680344dup, NC_000011.9:g.6701575dup

Select item 148405175617.

rs1484051756 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:6683279 (GRCh38)
11:6704510 (GRCh37)
Canonical SPDI:: NC_000011.10:6683278:A:G
Gene:: MRPL17 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.6683279A>G, NC_000011.9:g.6704510A>G, NM_022061.4:c.18T>C, NM_022061.3:c.18T>C

Select item 148381886618.

rs1483818866 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:6680001 (GRCh38)
11:6701232 (GRCh37)
Canonical SPDI:: NC_000011.10:6680000:A:C
Gene:: MRPL17 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.6680001A>C, NC_000011.9:g.6701232A>C

Select item 148323444719.

rs1483234447 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:6680366 (GRCh38)
11:6701597 (GRCh37)
Canonical SPDI:: NC_000011.10:6680365:G:T
Gene:: MRPL17 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.6680366G>T, NC_000011.9:g.6701597G>T

Select item 148257208820.

rs1482572088 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:6681227 (GRCh38)
11:6702458 (GRCh37)
Canonical SPDI:: NC_000011.10:6681226:G:T
Gene:: MRPL17 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.6681227G>T, NC_000011.9:g.6702458G>T, NM_022061.4:c.*891C>A, NM_022061.3:c.*891C>A