SNP Links for Gene (Select 51555) - SNP

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Select item 14915807781.

rs1491580778 has merged into rs35484147 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT [Show Flanks]
Chromosome:: 3:179956910 (GRCh38)
3:179674698 (GRCh37)
Canonical SPDI:: NC_000003.12:179956902:TTTTTTTTT:TTTTTTT,NC_000003.12:179956902:TTTTTTTTT:TTTTTTTT,NC_000003.12:179956902:TTTTTTTTT:TTTTTTTTTT
Gene:: PEX5L (Varview), LOC124909463 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0.418822/3271 (ALFA)
T=0.1381/253 (Korea1K)
T=0.200656/1005 (1000Genomes)
T=0.273033/72269 (TOPMED)
T=0.302679/1356 (Estonian)
T=0.325/13 (GENOME_DK)
T=0.34/204 (NorthernSweden)
T=0.342503/1270 (TWINSUK)
T=0.351842/1356 (ALSPAC)
HGVS:: NC_000003.12:g.179956910_179956911del, NC_000003.12:g.179956911del, NC_000003.12:g.179956911dup, NC_000003.11:g.179674698_179674699del, NC_000003.11:g.179674699del, NC_000003.11:g.179674699dup

Select item 14915792792.

rs1491579279 has merged into rs201456388 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 3:179840161 (GRCh38)
3:179557949 (GRCh37)
Canonical SPDI:: NC_000003.12:179840156:TTTTTT:TTTT,NC_000003.12:179840156:TTTTTT:TTTTT,NC_000003.12:179840156:TTTTTT:TTTTTTT,NC_000003.12:179840156:TTTTTT:TTTTTTTT,NC_000003.12:179840156:TTTTTT:TTTTTTTTT,NC_000003.12:179840156:TTTTTT:TTTTTTTTTT
Gene:: PEX5L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.00491/9 (Korea1K)
-=0.24/144 (NorthernSweden)
HGVS:: NC_000003.12:g.179840161_179840162del, NC_000003.12:g.179840162del, NC_000003.12:g.179840162dup, NC_000003.12:g.179840161_179840162dup, NC_000003.12:g.179840160_179840162dup, NC_000003.12:g.179840159_179840162dup, NC_000003.11:g.179557949_179557950del, NC_000003.11:g.179557950del, NC_000003.11:g.179557950dup, NC_000003.11:g.179557949_179557950dup, NC_000003.11:g.179557948_179557950dup, NC_000003.11:g.179557947_179557950dup

Select item 14915565033.

rs1491556503 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 3:179797589 (GRCh38)
3:179515377 (GRCh37)
Canonical SPDI:: NC_000003.12:179797588:TA:
Gene:: PEX5L (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00012/6 (GnomAD)
HGVS:: NC_000003.12:g.179797589_179797590del, NC_000003.11:g.179515377_179515378del, XM_011512891.3:c.*4238_*4239del, XM_011512891.2:c.*4238_*4239del, NM_016559.3:c.*4238_*4239del, NM_016559.2:c.*4238_*4239del, XM_011512888.3:c.*4238_*4239del, XM_011512888.2:c.*4238_*4239del, NM_001349388.2:c.*4238_*4239del, NM_001349388.1:c.*4238_*4239del, NM_001349392.2:c.*4238_*4239del, NM_001349392.1:c.*4238_*4239del, NM_001349397.2:c.*4238_*4239del, NM_001349397.1:c.*4238_*4239del, XM_024453590.2:c.*4238_*4239del, XM_024453590.1:c.*4238_*4239del, XM_024453591.2:c.*4238_*4239del, XM_024453591.1:c.*4238_*4239del, NM_001349389.2:c.*4238_*4239del, NM_001349389.1:c.*4238_*4239del, NM_001349386.2:c.*4238_*4239del, NM_001349386.1:c.*4238_*4239del, NM_001349387.2:c.*4238_*4239del, NM_001349387.1:c.*4238_*4239del, NM_001256750.2:c.*4238_*4239del, NM_001256750.1:c.*4238_*4239del, NM_001256751.2:c.*4238_*4239del, NM_001256751.1:c.*4238_*4239del, NM_001349390.2:c.*4238_*4239del, NM_001349390.1:c.*4238_*4239del, NM_001349393.2:c.*4238_*4239del, NM_001349393.1:c.*4238_*4239del, NM_001349408.2:c.*4238_*4239del, NM_001349408.1:c.*4238_*4239del, NM_001256752.2:c.*4238_*4239del, NM_001256752.1:c.*4238_*4239del, XM_024453592.2:c.*4238_*4239del, XM_024453592.1:c.*4238_*4239del, NM_001349395.2:c.*4238_*4239del, NM_001349395.1:c.*4238_*4239del, NM_001256754.2:c.*4238_*4239del, NM_001256754.1:c.*4238_*4239del, NM_001256753.2:c.*4238_*4239del, NM_001256753.1:c.*4238_*4239del, NM_001349391.2:c.*4238_*4239del, NM_001349391.1:c.*4238_*4239del, NM_001349399.2:c.*4238_*4239del, NM_001349399.1:c.*4238_*4239del, NM_001349394.2:c.*4238_*4239del, NM_001349394.1:c.*4238_*4239del, NM_001349396.2:c.*4238_*4239del, NM_001349396.1:c.*4238_*4239del, NM_001349406.2:c.*4238_*4239del, NM_001349406.1:c.*4238_*4239del, NM_001256756.2:c.*4238_*4239del, NM_001256756.1:c.*4238_*4239del, NR_146167.2:n.6199_6200del, NR_146167.1:n.6194_6195del, NM_001349409.2:c.*4238_*4239del, NM_001349409.1:c.*4238_*4239del, NM_001349398.2:c.*4238_*4239del, NM_001349398.1:c.*4238_*4239del, XM_024453593.2:c.*4238_*4239del, XM_024453593.1:c.*4238_*4239del, NM_001349401.2:c.*4238_*4239del, NM_001349401.1:c.*4238_*4239del, NM_001256755.2:c.*4238_*4239del, NM_001256755.1:c.*4238_*4239del, NM_001349410.2:c.*4238_*4239del, NM_001349410.1:c.*4238_*4239del, NM_001349404.2:c.*4238_*4239del, NM_001349404.1:c.*4238_*4239del, XM_047448297.1:c.*4238_*4239del, XM_047448298.1:c.*4238_*4239del, XM_047448299.1:c.*4238_*4239del

Select item 14915492834.

rs1491549283 has merged into rs71628101 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:179868053 (GRCh38)
3:179585841 (GRCh37)
Canonical SPDI:: NC_000003.12:179868042:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:179868042:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:179868042:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:179868042:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:179868042:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:179868042:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:179868042:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:179868042:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:179868042:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:179868042:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:179868042:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:179868042:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:179868042:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:179868042:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:179868042:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:179868042:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:179868042:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PEX5L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000003.12:g.179868053_179868063del, NC_000003.12:g.179868058_179868063del, NC_000003.12:g.179868059_179868063del, NC_000003.12:g.179868060_179868063del, NC_000003.12:g.179868061_179868063del, NC_000003.12:g.179868062_179868063del, NC_000003.12:g.179868063del, NC_000003.12:g.179868063dup, NC_000003.12:g.179868062_179868063dup, NC_000003.12:g.179868061_179868063dup, NC_000003.12:g.179868060_179868063dup, NC_000003.12:g.179868059_179868063dup, NC_000003.12:g.179868058_179868063dup, NC_000003.12:g.179868057_179868063dup, NC_000003.12:g.179868056_179868063dup, NC_000003.12:g.179868054_179868063dup, NC_000003.12:g.179868051_179868063dup, NC_000003.11:g.179585841_179585851del, NC_000003.11:g.179585846_179585851del, NC_000003.11:g.179585847_179585851del, NC_000003.11:g.179585848_179585851del, NC_000003.11:g.179585849_179585851del, NC_000003.11:g.179585850_179585851del, NC_000003.11:g.179585851del, NC_000003.11:g.179585851dup, NC_000003.11:g.179585850_179585851dup, NC_000003.11:g.179585849_179585851dup, NC_000003.11:g.179585848_179585851dup, NC_000003.11:g.179585847_179585851dup, NC_000003.11:g.179585846_179585851dup, NC_000003.11:g.179585845_179585851dup, NC_000003.11:g.179585844_179585851dup, NC_000003.11:g.179585842_179585851dup, NC_000003.11:g.179585839_179585851dup

Select item 14915445605.

rs1491544560 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AA,GA,TACA,TATACA [Show Flanks]
Chromosome:: 3:179874148 (GRCh38)
3:179591937 (GRCh37)
Canonical SPDI:: NC_000003.12:179874148:A:AAA,NC_000003.12:179874148:A:AGA,NC_000003.12:179874148:A:ATACA,NC_000003.12:179874148:A:ATATACA
Gene:: PEX5L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATACA=0./0 (ALFA)
ATATAC=0.000004/1 (TOPMED)
ATAC=0.000318/5 (TOMMO)
HGVS:: NC_000003.12:g.179874149_179874150insAA, NC_000003.12:g.179874149_179874150insGA, NC_000003.12:g.179874149_179874150insTACA, NC_000003.12:g.179874149AT[2]ACA[1], NC_000003.11:g.179591937_179591938insAA, NC_000003.11:g.179591937_179591938insGA, NC_000003.11:g.179591937_179591938insTACA, NC_000003.11:g.179591937AT[2]ACA[1]

Select item 14915410456.

rs1491541045 has merged into rs397801213 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:179871108 (GRCh38)
3:179588896 (GRCh37)
Canonical SPDI:: NC_000003.12:179871100:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000003.12:179871100:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000003.12:179871100:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:179871100:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:179871100:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:179871100:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:179871100:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:179871100:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:179871100:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:179871100:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:179871100:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:179871100:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:179871100:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:179871100:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:179871100:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:179871100:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:179871100:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:179871100:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:179871100:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:179871100:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:179871100:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:179871100:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:179871100:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:179871100:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:179871100:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:179871100:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:179871100:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PEX5L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.179871108_179871122del, NC_000003.12:g.179871110_179871122del, NC_000003.12:g.179871111_179871122del, NC_000003.12:g.179871112_179871122del, NC_000003.12:g.179871113_179871122del, NC_000003.12:g.179871114_179871122del, NC_000003.12:g.179871115_179871122del, NC_000003.12:g.179871116_179871122del, NC_000003.12:g.179871117_179871122del, NC_000003.12:g.179871118_179871122del, NC_000003.12:g.179871119_179871122del, NC_000003.12:g.179871120_179871122del, NC_000003.12:g.179871121_179871122del, NC_000003.12:g.179871122del, NC_000003.12:g.179871122dup, NC_000003.12:g.179871121_179871122dup, NC_000003.12:g.179871120_179871122dup, NC_000003.12:g.179871119_179871122dup, NC_000003.12:g.179871118_179871122dup, NC_000003.12:g.179871117_179871122dup, NC_000003.12:g.179871116_179871122dup, NC_000003.12:g.179871115_179871122dup, NC_000003.12:g.179871114_179871122dup, NC_000003.12:g.179871113_179871122dup, NC_000003.12:g.179871110_179871122dup, NC_000003.12:g.179871122_179871123insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.179871122_179871123insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.179588896_179588910del, NC_000003.11:g.179588898_179588910del, NC_000003.11:g.179588899_179588910del, NC_000003.11:g.179588900_179588910del, NC_000003.11:g.179588901_179588910del, NC_000003.11:g.179588902_179588910del, NC_000003.11:g.179588903_179588910del, NC_000003.11:g.179588904_179588910del, NC_000003.11:g.179588905_179588910del, NC_000003.11:g.179588906_179588910del, NC_000003.11:g.179588907_179588910del, NC_000003.11:g.179588908_179588910del, NC_000003.11:g.179588909_179588910del, NC_000003.11:g.179588910del, NC_000003.11:g.179588910dup, NC_000003.11:g.179588909_179588910dup, NC_000003.11:g.179588908_179588910dup, NC_000003.11:g.179588907_179588910dup, NC_000003.11:g.179588906_179588910dup, NC_000003.11:g.179588905_179588910dup, NC_000003.11:g.179588904_179588910dup, NC_000003.11:g.179588903_179588910dup, NC_000003.11:g.179588902_179588910dup, NC_000003.11:g.179588901_179588910dup, NC_000003.11:g.179588898_179588910dup, NC_000003.11:g.179588910_179588911insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.179588910_179588911insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14915304297.

rs1491530429 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 3:179824706 (GRCh38)
3:179542494 (GRCh37)
Canonical SPDI:: NC_000003.12:179824705:CA:
Gene:: PEX5L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000003.12:g.179824706_179824707del, NC_000003.11:g.179542494_179542495del

Select item 14915241238.

rs1491524123 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: 3:179871101 (GRCh38)
3:179588890 (GRCh37)
Canonical SPDI:: NC_000003.12:179871101:T:TCT
Gene:: PEX5L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCT=0./0 (ALFA)
TC=0.00496/9 (Korea1K)
HGVS:: NC_000003.12:g.179871102_179871103insCT, NC_000003.11:g.179588890_179588891insCT

Select item 14915151739.

rs1491515173 has merged into rs4041253 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 3:179981037 (GRCh38)
3:179698825 (GRCh37)
Canonical SPDI:: NC_000003.12:179981023:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:179981023:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:179981023:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:179981023:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:179981023:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:179981023:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:179981023:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:179981023:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PEX5L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
AA=0.405/2028 (1000Genomes)
HGVS:: NC_000003.12:g.179981037_179981040del, NC_000003.12:g.179981038_179981040del, NC_000003.12:g.179981039_179981040del, NC_000003.12:g.179981040del, NC_000003.12:g.179981040dup, NC_000003.12:g.179981039_179981040dup, NC_000003.12:g.179981038_179981040dup, NC_000003.12:g.179981034_179981040dup, NC_000003.11:g.179698825_179698828del, NC_000003.11:g.179698826_179698828del, NC_000003.11:g.179698827_179698828del, NC_000003.11:g.179698828del, NC_000003.11:g.179698828dup, NC_000003.11:g.179698827_179698828dup, NC_000003.11:g.179698826_179698828dup, NC_000003.11:g.179698822_179698828dup

Select item 149150685710.

rs1491506857 has merged into rs72242969 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGT>-,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 3:179961217 (GRCh38)
3:179679005 (GRCh37)
Canonical SPDI:: NC_000003.12:179961201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000003.12:179961201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000003.12:179961201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000003.12:179961201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:179961201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:179961201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:179961201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:179961201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:179961201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:179961201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:179961201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:179961201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:179961201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:179961201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: PEX5L (Varview), LOC124909463 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
-=0.016031/269 (TOMMO)
-=0.021834/40 (Korea1K)
-=0.115811/30654 (TOPMED)
-=0.125/5 (GENOME_DK)
-=0.213333/128 (NorthernSweden)
HGVS:: NC_000003.12:g.179961203GT[7], NC_000003.12:g.179961203GT[9], NC_000003.12:g.179961203GT[10], NC_000003.12:g.179961203GT[11], NC_000003.12:g.179961203GT[12], NC_000003.12:g.179961203GT[13], NC_000003.12:g.179961203GT[15], NC_000003.12:g.179961203GT[16], NC_000003.12:g.179961203GT[17], NC_000003.12:g.179961203GT[18], NC_000003.12:g.179961203GT[19], NC_000003.12:g.179961203GT[20], NC_000003.12:g.179961203GT[21], NC_000003.12:g.179961203GT[22], NC_000003.11:g.179678991GT[7], NC_000003.11:g.179678991GT[9], NC_000003.11:g.179678991GT[10], NC_000003.11:g.179678991GT[11], NC_000003.11:g.179678991GT[12], NC_000003.11:g.179678991GT[13], NC_000003.11:g.179678991GT[15], NC_000003.11:g.179678991GT[16], NC_000003.11:g.179678991GT[17], NC_000003.11:g.179678991GT[18], NC_000003.11:g.179678991GT[19], NC_000003.11:g.179678991GT[20], NC_000003.11:g.179678991GT[21], NC_000003.11:g.179678991GT[22]

Select item 149149721711.

rs1491497217 [Homo sapiens]

Variant type:: DELINS
Alleles:: AACT>-,AACTAACT [Show Flanks]
Chromosome:: 3:179796532 (GRCh38)
3:179514320 (GRCh37)
Canonical SPDI:: NC_000003.12:179796530:TAACT:T,NC_000003.12:179796530:TAACT:TAACTAACT
Gene:: PEX5L (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAACTAACT=0./0 (ALFA)
TAAC=0.000007/1 (GnomAD)
TAAC=0.000026/7 (TOPMED)
-=0.000156/1 (1000Genomes)
HGVS:: NC_000003.12:g.179796532_179796535del, NC_000003.12:g.179796532_179796535dup, NC_000003.11:g.179514320_179514323del, NC_000003.11:g.179514320_179514323dup, XM_011512891.3:c.*5294_*5297del, XM_011512891.3:c.*5294_*5297dup, XM_011512891.2:c.*5294_*5297del, XM_011512891.2:c.*5294_*5297dup, NM_016559.3:c.*5294_*5297del, NM_016559.3:c.*5294_*5297dup, NM_016559.2:c.*5294_*5297del, NM_016559.2:c.*5294_*5297dup, XM_011512888.3:c.*5294_*5297del, XM_011512888.3:c.*5294_*5297dup, XM_011512888.2:c.*5294_*5297del, XM_011512888.2:c.*5294_*5297dup, NM_001349388.2:c.*5294_*5297del, NM_001349388.2:c.*5294_*5297dup, NM_001349388.1:c.*5294_*5297del, NM_001349388.1:c.*5294_*5297dup, NM_001349392.2:c.*5294_*5297del, NM_001349392.2:c.*5294_*5297dup, NM_001349392.1:c.*5294_*5297del, NM_001349392.1:c.*5294_*5297dup, NM_001349397.2:c.*5294_*5297del, NM_001349397.2:c.*5294_*5297dup, NM_001349397.1:c.*5294_*5297del, NM_001349397.1:c.*5294_*5297dup, XM_024453590.2:c.*5294_*5297del, XM_024453590.2:c.*5294_*5297dup, XM_024453590.1:c.*5294_*5297del, XM_024453590.1:c.*5294_*5297dup, XM_024453591.2:c.*5294_*5297del, XM_024453591.2:c.*5294_*5297dup, XM_024453591.1:c.*5294_*5297del, XM_024453591.1:c.*5294_*5297dup, NM_001349389.2:c.*5294_*5297del, NM_001349389.2:c.*5294_*5297dup, NM_001349389.1:c.*5294_*5297del, NM_001349389.1:c.*5294_*5297dup, NM_001349386.2:c.*5294_*5297del, NM_001349386.2:c.*5294_*5297dup, NM_001349386.1:c.*5294_*5297del, NM_001349386.1:c.*5294_*5297dup, NM_001349387.2:c.*5294_*5297del, NM_001349387.2:c.*5294_*5297dup, NM_001349387.1:c.*5294_*5297del, NM_001349387.1:c.*5294_*5297dup, NM_001256750.2:c.*5294_*5297del, NM_001256750.2:c.*5294_*5297dup, NM_001256750.1:c.*5294_*5297del, NM_001256750.1:c.*5294_*5297dup, NM_001256751.2:c.*5294_*5297del, NM_001256751.2:c.*5294_*5297dup, NM_001256751.1:c.*5294_*5297del, NM_001256751.1:c.*5294_*5297dup, NM_001349390.2:c.*5294_*5297del, NM_001349390.2:c.*5294_*5297dup, NM_001349390.1:c.*5294_*5297del, NM_001349390.1:c.*5294_*5297dup, NM_001349393.2:c.*5294_*5297del, NM_001349393.2:c.*5294_*5297dup, NM_001349393.1:c.*5294_*5297del, NM_001349393.1:c.*5294_*5297dup, NM_001349408.2:c.*5294_*5297del, NM_001349408.2:c.*5294_*5297dup, NM_001349408.1:c.*5294_*5297del, NM_001349408.1:c.*5294_*5297dup, NM_001256752.2:c.*5294_*5297del, NM_001256752.2:c.*5294_*5297dup, NM_001256752.1:c.*5294_*5297del, NM_001256752.1:c.*5294_*5297dup, XM_024453592.2:c.*5294_*5297del, XM_024453592.2:c.*5294_*5297dup, XM_024453592.1:c.*5294_*5297del, XM_024453592.1:c.*5294_*5297dup, NM_001349395.2:c.*5294_*5297del, NM_001349395.2:c.*5294_*5297dup, NM_001349395.1:c.*5294_*5297del, NM_001349395.1:c.*5294_*5297dup, NM_001256754.2:c.*5294_*5297del, NM_001256754.2:c.*5294_*5297dup, NM_001256754.1:c.*5294_*5297del, NM_001256754.1:c.*5294_*5297dup, NM_001256753.2:c.*5294_*5297del, NM_001256753.2:c.*5294_*5297dup, NM_001256753.1:c.*5294_*5297del, NM_001256753.1:c.*5294_*5297dup, NM_001349391.2:c.*5294_*5297del, NM_001349391.2:c.*5294_*5297dup, NM_001349391.1:c.*5294_*5297del, NM_001349391.1:c.*5294_*5297dup, NM_001349399.2:c.*5294_*5297del, NM_001349399.2:c.*5294_*5297dup, NM_001349399.1:c.*5294_*5297del, NM_001349399.1:c.*5294_*5297dup, NM_001349394.2:c.*5294_*5297del, NM_001349394.2:c.*5294_*5297dup, NM_001349394.1:c.*5294_*5297del, NM_001349394.1:c.*5294_*5297dup, NM_001349396.2:c.*5294_*5297del, NM_001349396.2:c.*5294_*5297dup, NM_001349396.1:c.*5294_*5297del, NM_001349396.1:c.*5294_*5297dup, NM_001349406.2:c.*5294_*5297del, NM_001349406.2:c.*5294_*5297dup, NM_001349406.1:c.*5294_*5297del, NM_001349406.1:c.*5294_*5297dup, NM_001256756.2:c.*5294_*5297del, NM_001256756.2:c.*5294_*5297dup, NM_001256756.1:c.*5294_*5297del, NM_001256756.1:c.*5294_*5297dup, NR_146167.2:n.7255_7258del, NR_146167.2:n.7255_7258dup, NR_146167.1:n.7250_7253del, NR_146167.1:n.7250_7253dup, NM_001349409.2:c.*5294_*5297del, NM_001349409.2:c.*5294_*5297dup, NM_001349409.1:c.*5294_*5297del, NM_001349409.1:c.*5294_*5297dup, NM_001349398.2:c.*5294_*5297del, NM_001349398.2:c.*5294_*5297dup, NM_001349398.1:c.*5294_*5297del, NM_001349398.1:c.*5294_*5297dup, XM_024453593.2:c.*5294_*5297del, XM_024453593.2:c.*5294_*5297dup, XM_024453593.1:c.*5294_*5297del, XM_024453593.1:c.*5294_*5297dup, NM_001349401.2:c.*5294_*5297del, NM_001349401.2:c.*5294_*5297dup, NM_001349401.1:c.*5294_*5297del, NM_001349401.1:c.*5294_*5297dup, NM_001256755.2:c.*5294_*5297del, NM_001256755.2:c.*5294_*5297dup, NM_001256755.1:c.*5294_*5297del, NM_001256755.1:c.*5294_*5297dup, NM_001349410.2:c.*5294_*5297del, NM_001349410.2:c.*5294_*5297dup, NM_001349410.1:c.*5294_*5297del, NM_001349410.1:c.*5294_*5297dup, NM_001349404.2:c.*5294_*5297del, NM_001349404.2:c.*5294_*5297dup, NM_001349404.1:c.*5294_*5297del, NM_001349404.1:c.*5294_*5297dup, XM_047448297.1:c.*5294_*5297del, XM_047448297.1:c.*5294_*5297dup, XM_047448298.1:c.*5294_*5297del, XM_047448298.1:c.*5294_*5297dup, XM_047448299.1:c.*5294_*5297del, XM_047448299.1:c.*5294_*5297dup

Select item 149149393812.

rs1491493938 [Homo sapiens]

Variant type:: INS
Alleles:: ->G,GGGG [Show Flanks]
Chromosome:: 3:179954216 (GRCh38)
3:179672005 (GRCh37)
Canonical SPDI:: NC_000003.12:179954216::G,NC_000003.12:179954216::GGGG
Gene:: PEX5L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGG=0./0 (ALFA)
GGGG=0.00006/1 (TOMMO)
GGGG=0.000393/40 (GnomAD)
HGVS:: NC_000003.12:g.179954216_179954217insG, NC_000003.12:g.179954216_179954217insGGGG, NC_000003.11:g.179672004_179672005insG, NC_000003.11:g.179672004_179672005insGGGG

Select item 149149166013.

rs1491491660 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 3:179867025 (GRCh38)
3:179584813 (GRCh37)
Canonical SPDI:: NC_000003.12:179867024:CA:
Gene:: PEX5L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.0054/64 (ALFA)
-=0.00469/132 (TOMMO)
HGVS:: NC_000003.12:g.179867025_179867026del, NC_000003.11:g.179584813_179584814del

Select item 149148199914.

rs1491481999 [Homo sapiens]

Variant type:: INS
Alleles:: ->GTGTGTG,GTGTGTGTG [Show Flanks]
Chromosome:: 3:179968722 (GRCh38)
3:179686511 (GRCh37)
Canonical SPDI:: NC_000003.12:179968722::GTGTGTG,NC_000003.12:179968722::GTGTGTGTG
Gene:: PEX5L (Varview), LOC124909463 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
HGVS:: NC_000003.12:g.179968722_179968723insGTGTGTG, NC_000003.12:g.179968722_179968723insGTGTGTGTG, NC_000003.11:g.179686510_179686511insGTGTGTG, NC_000003.11:g.179686510_179686511insGTGTGTGTG

Select item 149145792715.

rs1491457927 has merged into rs200716895 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>-,TGTG [Show Flanks]
Chromosome:: 3:180024689 (GRCh38)
3:179742477 (GRCh37)
Canonical SPDI:: NC_000003.12:180024678:TGTGTGTGTGTG:TGTGTGTGTG,NC_000003.12:180024678:TGTGTGTGTGTG:TGTGTGTGTGTGTG
Gene:: PEX5L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTG=0./0 (ALFA)
HGVS:: NC_000003.12:g.180024679TG[5], NC_000003.12:g.180024679TG[7], NC_000003.11:g.179742467TG[5], NC_000003.11:g.179742467TG[7]

Select item 149144734816.

rs1491447348 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 3:179804228 (GRCh38)
3:179522017 (GRCh37)
Canonical SPDI:: NC_000003.12:179804228:A:AA
Gene:: PEX5L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.179804229dup, NC_000003.11:g.179522017dup

Select item 149144157017.

rs1491441570 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,C [Show Flanks]
Chromosome:: 3:179954205 (GRCh38)
3:179671994 (GRCh37)
Canonical SPDI:: NC_000003.12:179954205::A,NC_000003.12:179954205::C
Gene:: PEX5L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000003.12:g.179954205_179954206insA, NC_000003.12:g.179954205_179954206insC, NC_000003.11:g.179671993_179671994insA, NC_000003.11:g.179671993_179671994insC

Select item 149142577118.

rs1491425771 has merged into rs201687554 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA,AAA [Show Flanks]
Chromosome:: 3:179979250 (GRCh38)
3:179697038 (GRCh37)
Canonical SPDI:: NC_000003.12:179979249:AAAAAAAAAA:AAAAAAAAA,NC_000003.12:179979249:AAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:179979249:AAAAAAAAAA:AAAAAAAAAAAA
Gene:: PEX5L (Varview), LOC124909463 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.00114/5 (Estonian)
HGVS:: NC_000003.12:g.179979259del, NC_000003.12:g.179979259dup, NC_000003.12:g.179979258_179979259dup, NC_000003.11:g.179697047del, NC_000003.11:g.179697047dup, NC_000003.11:g.179697046_179697047dup

Select item 149140400119.

rs1491404001 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 3:179971193 (GRCh38)
3:179688981 (GRCh37)
Canonical SPDI:: NC_000003.12:179971191:TTT:T
Gene:: PEX5L (Varview), LOC124909463 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000015/4 (TOPMED)
-=0.000036/5 (GnomAD)
HGVS:: NC_000003.12:g.179971193_179971194del, NC_000003.11:g.179688981_179688982del

Select item 149139306820.

rs1491393068 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 3:179802532 (GRCh38)
3:179520320 (GRCh37)
Canonical SPDI:: NC_000003.12:179802531:CA:
Gene:: PEX5L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00017/2 (ALFA)
-=0.00072/12 (TOMMO)
HGVS:: NC_000003.12:g.179802532_179802533del, NC_000003.11:g.179520320_179520321del

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