SNP Links for PMC (Select 6856296) - SNP - NCBI

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Links from PMC

Items: 3

Select item 791484721.

rs79148472 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 8:37765583 (GRCh38)
8:37623101 (GRCh37)
Canonical SPDI:: NC_000008.11:37765582:A:C,NC_000008.11:37765582:A:G
Gene:: PLPBP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,initiator_codon_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.004635/262 (ALFA)
G=0.000223/1 (Estonian)
G=0.001038/4 (ALSPAC)
G=0.001618/6 (TWINSUK)
G=0.001906/150 (PAGE_STUDY)
G=0.002004/2 (GoNL)
G=0.00246/32 (GoESP)
G=0.002655/13 (1000Genomes)
G=0.003308/464 (GnomAD)
G=0.00388/1027 (TOPMED)
G=0.004044/491 (ExAC)
G=0.004405/1107 (GnomAD_exomes)
G=0.005618/3 (MGP)
G=0.013889/3 (Qatari)
A=0.5/2 (SGDP_PRJ)
HGVS:: NC_000008.11:g.37765583A>C, NC_000008.11:g.37765583A>G, NC_000008.10:g.37623101A>C, NC_000008.10:g.37623101A>G, NG_053030.1:g.8831A>C, NG_053030.1:g.8831A>G, NM_007198.4:c.157A>C, NM_007198.4:c.157A>G, NM_007198.3:c.157A>C, NM_007198.3:c.157A>G, NM_001349346.2:c.157A>C, NM_001349346.2:c.157A>G, NM_001349346.1:c.157A>C, NM_001349346.1:c.157A>G, NM_001349347.2:c.157A>C, NM_001349347.2:c.157A>G, NM_001349347.1:c.157A>C, NM_001349347.1:c.157A>G, NM_001349348.2:c.1A>C, NM_001349348.2:c.1A>G, NM_001349348.1:c.1A>C, NM_001349348.1:c.1A>G, NM_001349349.1:c.262A>C, NM_001349349.1:c.262A>G, NP_009129.1:p.Met53Leu, NP_009129.1:p.Met53Val, NP_001336275.1:p.Met53Leu, NP_001336275.1:p.Met53Val, NP_001336276.1:p.Met53Leu, NP_001336276.1:p.Met53Val, NP_001336277.1:p.Met1Leu, NP_001336277.1:p.Met1Val, NP_001336278.1:p.Met88Leu, NP_001336278.1:p.Met88Val

Select item 617514432.

rs61751443 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: X:154030911 (GRCh38)
X:153296362 (GRCh37)
Canonical SPDI:: NC_000023.11:154030910:C:A,NC_000023.11:154030910:C:G,NC_000023.11:154030910:C:T
Gene:: MECP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: pathogenic-likely-pathogenic,likely-pathogenic,pathogenic,not-provided
Validated:: by cluster
HGVS:: NC_000023.11:g.154030911C>A, NC_000023.11:g.154030911C>G, NC_000023.11:g.154030911C>T, NW_003871103.3:g.1464890C>A, NW_003871103.3:g.1464890C>G, NW_003871103.3:g.1464890C>T, NG_007107.3:g.111193G>T, NG_007107.3:g.111193G>C, NG_007107.3:g.111193G>A, NM_004992.4:c.917G>T, NM_004992.4:c.917G>C, NM_004992.4:c.917G>A, NM_004992.3:c.917G>T, NM_004992.3:c.917G>C, NM_004992.3:c.917G>A, NM_001369391.2:c.638G>T, NM_001369391.2:c.638G>C, NM_001369391.2:c.638G>A, NM_001369391.1:c.638G>T, NM_001369391.1:c.638G>C, NM_001369391.1:c.638G>A, NM_001316337.2:c.638G>T, NM_001316337.2:c.638G>C, NM_001316337.2:c.638G>A, NM_001316337.1:c.638G>T, NM_001316337.1:c.638G>C, NM_001316337.1:c.638G>A, NM_001369392.2:c.638G>T, NM_001369392.2:c.638G>C, NM_001369392.2:c.638G>A, NM_001369392.1:c.638G>T, NM_001369392.1:c.638G>C, NM_001369392.1:c.638G>A, NM_001369393.2:c.638G>T, NM_001369393.2:c.638G>C, NM_001369393.2:c.638G>A, NM_001369393.1:c.638G>T, NM_001369393.1:c.638G>C, NM_001369393.1:c.638G>A, NM_001369394.2:c.638G>T, NM_001369394.2:c.638G>C, NM_001369394.2:c.638G>A, NM_001369394.1:c.638G>T, NM_001369394.1:c.638G>C, NM_001369394.1:c.638G>A, NM_001110792.2:c.953G>T, NM_001110792.2:c.953G>C, NM_001110792.2:c.953G>A, NM_001110792.1:c.953G>T, NM_001110792.1:c.953G>C, NM_001110792.1:c.953G>A, NM_001386137.1:c.248G>T, NM_001386137.1:c.248G>C, NM_001386137.1:c.248G>A, NM_001386138.1:c.248G>T, NM_001386138.1:c.248G>C, NM_001386138.1:c.248G>A, NM_001386139.1:c.248G>T, NM_001386139.1:c.248G>C, NM_001386139.1:c.248G>A, NC_000023.10:g.153296362C>A, NC_000023.10:g.153296362C>G, NC_000023.10:g.153296362C>T, XM_024452383.2:c.638G>T, XM_024452383.2:c.638G>C, XM_024452383.2:c.638G>A, XM_024452383.1:c.638G>T, XM_024452383.1:c.638G>C, XM_024452383.1:c.638G>A, XM_047442121.1:c.638G>T, XM_047442121.1:c.638G>C, XM_047442121.1:c.638G>A, XM_047442116.1:c.917G>T, XM_047442116.1:c.917G>C, XM_047442116.1:c.917G>A, XM_047442118.1:c.638G>T, XM_047442118.1:c.638G>C, XM_047442118.1:c.638G>A, XM_047442119.1:c.638G>T, XM_047442119.1:c.638G>C, XM_047442119.1:c.638G>A, XM_047442120.1:c.638G>T, XM_047442120.1:c.638G>C, XM_047442120.1:c.638G>A, XM_047442115.1:c.917G>T, XM_047442115.1:c.917G>C, XM_047442115.1:c.917G>A, XM_047442117.1:c.638G>T, XM_047442117.1:c.638G>C, XM_047442117.1:c.638G>A, XM_047442122.1:c.248G>T, XM_047442122.1:c.248G>C, XM_047442122.1:c.248G>A, NP_004983.1:p.Arg306Leu, NP_004983.1:p.Arg306Pro, NP_004983.1:p.Arg306His, NP_001356320.1:p.Arg213Leu, NP_001356320.1:p.Arg213Pro, NP_001356320.1:p.Arg213His, NP_001303266.1:p.Arg213Leu, NP_001303266.1:p.Arg213Pro, NP_001303266.1:p.Arg213His, NP_001356321.1:p.Arg213Leu, NP_001356321.1:p.Arg213Pro, NP_001356321.1:p.Arg213His, NP_001356322.1:p.Arg213Leu, NP_001356322.1:p.Arg213Pro, NP_001356322.1:p.Arg213His, NP_001356323.1:p.Arg213Leu, NP_001356323.1:p.Arg213Pro, NP_001356323.1:p.Arg213His, NP_001104262.1:p.Arg318Leu, NP_001104262.1:p.Arg318Pro, NP_001104262.1:p.Arg318His, NP_001373066.1:p.Arg83Leu, NP_001373066.1:p.Arg83Pro, NP_001373066.1:p.Arg83His, NP_001373067.1:p.Arg83Leu, NP_001373067.1:p.Arg83Pro, NP_001373067.1:p.Arg83His, NP_001373068.1:p.Arg83Leu, NP_001373068.1:p.Arg83Pro, NP_001373068.1:p.Arg83His, XP_024308151.1:p.Arg213Leu, XP_024308151.1:p.Arg213Pro, XP_024308151.1:p.Arg213His, XP_047298077.1:p.Arg213Leu, XP_047298077.1:p.Arg213Pro, XP_047298077.1:p.Arg213His, XP_047298072.1:p.Arg306Leu, XP_047298072.1:p.Arg306Pro, XP_047298072.1:p.Arg306His, XP_047298074.1:p.Arg213Leu, XP_047298074.1:p.Arg213Pro, XP_047298074.1:p.Arg213His, XP_047298075.1:p.Arg213Leu, XP_047298075.1:p.Arg213Pro, XP_047298075.1:p.Arg213His, XP_047298076.1:p.Arg213Leu, XP_047298076.1:p.Arg213Pro, XP_047298076.1:p.Arg213His, XP_047298071.1:p.Arg306Leu, XP_047298071.1:p.Arg306Pro, XP_047298071.1:p.Arg306His, XP_047298073.1:p.Arg213Leu, XP_047298073.1:p.Arg213Pro, XP_047298073.1:p.Arg213His, XP_047298078.1:p.Arg83Leu, XP_047298078.1:p.Arg83Pro, XP_047298078.1:p.Arg83His

Select item 617291563.

rs61729156 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 3:184358992 (GRCh38)
3:184076780 (GRCh37)
Canonical SPDI:: NC_000003.12:184358991:C:A,NC_000003.12:184358991:C:T
Gene:: CLCN2 (Varview), LOC124906311 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Clinical significance:: benign,benign-likely-benign,uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000492/98 (ALFA)
T=0.000071/1 (TOMMO)
T=0.001002/1 (GoNL)
T=0.001305/327 (GnomAD_exomes)
T=0.001715/206 (ExAC)
T=0.005411/759 (GnomAD)
T=0.005637/1492 (TOPMED)
T=0.005844/76 (GoESP)
T=0.006871/34 (1000Genomes)
T=0.008654/681 (PAGE_STUDY)
T=0.013889/3 (Qatari)
C=0.5/4 (SGDP_PRJ)
HGVS:: NC_000003.12:g.184358992C>A, NC_000003.12:g.184358992C>T, NC_000003.11:g.184076780C>A, NC_000003.11:g.184076780C>T, NG_016422.1:g.7612G>T, NG_016422.1:g.7612G>A, NM_004366.6:c.203G>T, NM_004366.6:c.203G>A, NM_004366.5:c.203G>T, NM_004366.5:c.203G>A, NM_001171087.3:c.203G>T, NM_001171087.3:c.203G>A, NM_001171087.2:c.203G>T, NM_001171087.2:c.203G>A, NM_001171089.3:c.203G>T, NM_001171089.3:c.203G>A, NM_001171089.2:c.203G>T, NM_001171089.2:c.203G>A, NM_001171088.3:c.203G>T, NM_001171088.3:c.203G>A, NM_001171088.2:c.203G>T, NM_001171088.2:c.203G>A, XM_011512401.2:c.203G>T, XM_011512401.2:c.203G>A, XM_011512401.1:c.203G>T, XM_011512401.1:c.203G>A, XM_006713489.2:c.203G>T, XM_006713489.2:c.203G>A, XM_006713489.1:c.203G>T, XM_006713489.1:c.203G>A, XM_047447419.1:c.203G>T, XM_047447419.1:c.203G>A, NP_004357.3:p.Arg68Leu, NP_004357.3:p.Arg68His, NP_001164558.1:p.Arg68Leu, NP_001164558.1:p.Arg68His, NP_001164560.1:p.Arg68Leu, NP_001164560.1:p.Arg68His, NP_001164559.1:p.Arg68Leu, NP_001164559.1:p.Arg68His, XP_011510703.1:p.Arg68Leu, XP_011510703.1:p.Arg68His, XP_006713552.1:p.Arg68Leu, XP_006713552.1:p.Arg68His, XP_047303375.1:p.Arg68Leu, XP_047303375.1:p.Arg68His

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