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Select item 14915455601.

rs1491545560 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 1:93227990 (GRCh38)
1:93693547 (GRCh37)
Canonical SPDI:: NC_000001.11:93227988:TTT:T
Gene:: CCDC18 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000337/4 (ALFA)
-=0.000284/38 (GnomAD)
HGVS:: NC_000001.11:g.93227990_93227991del, NC_000001.10:g.93693547_93693548del

Select item 14915357422.

rs1491535742 has merged into rs1200324133 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>-,AGAG [Show Flanks]
Chromosome:: 1:93234936 (GRCh38)
1:93700493 (GRCh37)
Canonical SPDI:: NC_000001.11:93234933:AGAG:AG,NC_000001.11:93234933:AGAG:AGAGAG
Gene:: CCDC18 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAG=0./0 (ALFA)
-=0.00018/3 (TOMMO)
-=0.00031/2 (1000Genomes)
HGVS:: NC_000001.11:g.93234934AG[1], NC_000001.11:g.93234934AG[3], NC_000001.10:g.93700491AG[1], NC_000001.10:g.93700491AG[3]

Select item 14915063533.

rs1491506353 has merged into rs75496996 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 1:93213416 (GRCh38)
1:93678973 (GRCh37)
Canonical SPDI:: NC_000001.11:93213409:TTTTTTTTTTTTT:TTTTTT,NC_000001.11:93213409:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:93213409:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:93213409:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:93213409:TTTTTTTTTTTTT:TTTTTTTTTTTTTT
Gene:: CCDC18 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.1204/72 (NorthernSweden)
-=0.14582/562 (ALSPAC)
-=0.14779/548 (TWINSUK)
-=0.2/8 (GENOME_DK)
-=0.30841/565 (Korea1K)
-=0.32208/5398 (TOMMO)
HGVS:: NC_000001.11:g.93213416_93213422del, NC_000001.11:g.93213420_93213422del, NC_000001.11:g.93213421_93213422del, NC_000001.11:g.93213422del, NC_000001.11:g.93213422dup, NC_000001.10:g.93678973_93678979del, NC_000001.10:g.93678977_93678979del, NC_000001.10:g.93678978_93678979del, NC_000001.10:g.93678979del, NC_000001.10:g.93678979dup

Select item 14914679044.

rs1491467904 has merged into rs34227600 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:93226306 (GRCh38)
1:93691863 (GRCh37)
Canonical SPDI:: NC_000001.11:93226298:TTTTTTTTTTTTTTTT:TTTTTTT,NC_000001.11:93226298:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:93226298:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:93226298:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:93226298:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:93226298:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:93226298:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:93226298:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:93226298:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:93226298:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:93226298:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:93226298:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:93226298:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:93226298:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:93226298:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:93226298:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:93226298:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:93226298:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:93226298:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:93226298:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:93226298:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:93226298:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CCDC18 (Varview), LOC107985521 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.4/16 (GENOME_DK)
-=0.462859/2318 (1000Genomes)
HGVS:: NC_000001.11:g.93226306_93226314del, NC_000001.11:g.93226311_93226314del, NC_000001.11:g.93226312_93226314del, NC_000001.11:g.93226313_93226314del, NC_000001.11:g.93226314del, NC_000001.11:g.93226314dup, NC_000001.11:g.93226313_93226314dup, NC_000001.11:g.93226312_93226314dup, NC_000001.11:g.93226308_93226314dup, NC_000001.11:g.93226307_93226314dup, NC_000001.11:g.93226306_93226314dup, NC_000001.11:g.93226305_93226314dup, NC_000001.11:g.93226304_93226314dup, NC_000001.11:g.93226303_93226314dup, NC_000001.11:g.93226301_93226314dup, NC_000001.11:g.93226300_93226314dup, NC_000001.11:g.93226299_93226314dup, NC_000001.11:g.93226314_93226315insTTTTTTTTTTTTTTTTT, NC_000001.11:g.93226314_93226315insTTTTTTTTTTTTTTTTTT, NC_000001.11:g.93226314_93226315insTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.93226314_93226315insTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.93226314_93226315insTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.93691863_93691871del, NC_000001.10:g.93691868_93691871del, NC_000001.10:g.93691869_93691871del, NC_000001.10:g.93691870_93691871del, NC_000001.10:g.93691871del, NC_000001.10:g.93691871dup, NC_000001.10:g.93691870_93691871dup, NC_000001.10:g.93691869_93691871dup, NC_000001.10:g.93691865_93691871dup, NC_000001.10:g.93691864_93691871dup, NC_000001.10:g.93691863_93691871dup, NC_000001.10:g.93691862_93691871dup, NC_000001.10:g.93691861_93691871dup, NC_000001.10:g.93691860_93691871dup, NC_000001.10:g.93691858_93691871dup, NC_000001.10:g.93691857_93691871dup, NC_000001.10:g.93691856_93691871dup, NC_000001.10:g.93691871_93691872insTTTTTTTTTTTTTTTTT, NC_000001.10:g.93691871_93691872insTTTTTTTTTTTTTTTTTT, NC_000001.10:g.93691871_93691872insTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.93691871_93691872insTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.93691871_93691872insTTTTTTTTTTTTTTTTTTTTTTT

Select item 14912863855.

rs1491286385 has merged into rs35716144 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 1:93269472 (GRCh38)
1:93735029 (GRCh37)
Canonical SPDI:: NC_000001.11:93269461:AAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:93269461:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:93269461:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:93269461:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:93269461:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:93269461:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:93269461:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:93269461:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: CCDC18 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
A=0.01178/7 (NorthernSweden)
-=0.175/7 (GENOME_DK)
HGVS:: NC_000001.11:g.93269472_93269476del, NC_000001.11:g.93269473_93269476del, NC_000001.11:g.93269474_93269476del, NC_000001.11:g.93269475_93269476del, NC_000001.11:g.93269476del, NC_000001.11:g.93269476dup, NC_000001.11:g.93269475_93269476dup, NC_000001.11:g.93269473_93269476dup, NC_000001.10:g.93735029_93735033del, NC_000001.10:g.93735030_93735033del, NC_000001.10:g.93735031_93735033del, NC_000001.10:g.93735032_93735033del, NC_000001.10:g.93735033del, NC_000001.10:g.93735033dup, NC_000001.10:g.93735032_93735033dup, NC_000001.10:g.93735030_93735033dup, XM_047419520.1:c.*4517_*4521del, XM_047419520.1:c.*4518_*4521del, XM_047419520.1:c.*4519_*4521del, XM_047419520.1:c.*4520_*4521del, XM_047419520.1:c.*4521del, XM_047419520.1:c.*4521dup, XM_047419520.1:c.*4520_*4521dup, XM_047419520.1:c.*4518_*4521dup

Select item 14912687236.

rs1491268723 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:93248972 (GRCh38)
1:93714529 (GRCh37)
Canonical SPDI:: NC_000001.11:93248971:CA:
Gene:: CCDC18 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00843/100 (ALFA)
-=0.00134/38 (TOMMO)
HGVS:: NC_000001.11:g.93248972_93248973del, NC_000001.10:g.93714529_93714530del

Select item 14912604627.

rs1491260462 has merged into rs71586786 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,AA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:93248983 (GRCh38)
1:93714540 (GRCh37)
Canonical SPDI:: NC_000001.11:93248972:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:93248972:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:93248972:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:93248972:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:93248972:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:93248972:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:93248972:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:93248972:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:93248972:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:93248972:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:93248972:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:93248972:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:93248972:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CCDC18 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.3429/1717 (1000Genomes)
A=0.5/20 (GENOME_DK)
HGVS:: NC_000001.11:g.93248983_93248994del, NC_000001.11:g.93248985_93248994del, NC_000001.11:g.93248987_93248994del, NC_000001.11:g.93248989_93248994del, NC_000001.11:g.93248990_93248994del, NC_000001.11:g.93248991_93248994del, NC_000001.11:g.93248992_93248994del, NC_000001.11:g.93248993_93248994del, NC_000001.11:g.93248994del, NC_000001.11:g.93248994dup, NC_000001.11:g.93248993_93248994dup, NC_000001.11:g.93248992_93248994dup, NC_000001.11:g.93248989_93248994dup, NC_000001.10:g.93714540_93714551del, NC_000001.10:g.93714542_93714551del, NC_000001.10:g.93714544_93714551del, NC_000001.10:g.93714546_93714551del, NC_000001.10:g.93714547_93714551del, NC_000001.10:g.93714548_93714551del, NC_000001.10:g.93714549_93714551del, NC_000001.10:g.93714550_93714551del, NC_000001.10:g.93714551del, NC_000001.10:g.93714551dup, NC_000001.10:g.93714550_93714551dup, NC_000001.10:g.93714549_93714551dup, NC_000001.10:g.93714546_93714551dup

Select item 14912149168.

rs1491214916 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 1:93226314 (GRCh38)
1:93691871 (GRCh37)
Canonical SPDI:: NC_000001.11:93226313:TG:
Gene:: CCDC18 (Varview), LOC107985521 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.000129/15 (ExAC)
HGVS:: NC_000001.11:g.93226314_93226315del, NC_000001.10:g.93691871_93691872del

Select item 14911462089.

rs1491146208 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 1:93242331 (GRCh38)
1:93707888 (GRCh37)
Canonical SPDI:: NC_000001.11:93242330:AA:
Gene:: CCDC18 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.0001/14 (GnomAD)
-=0.000106/28 (TOPMED)
HGVS:: NC_000001.11:g.93242331_93242332del, NC_000001.10:g.93707888_93707889del

Select item 149109550710.

rs1491095507 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 1:93269462 (GRCh38)
1:93735020 (GRCh37)
Canonical SPDI:: NC_000001.11:93269462::T
Gene:: CCDC18 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000142/2 (TOMMO)
HGVS:: NC_000001.11:g.93269462_93269463insT, NC_000001.10:g.93735019_93735020insT, XM_047419520.1:c.*4507_*4508insT

Select item 149109274411.

rs1491092744 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:93227989 (GRCh38)
1:93693547 (GRCh37)
Canonical SPDI:: NC_000001.11:93227989::A
Gene:: CCDC18 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.002908/13 (ALFA)
A=0.000156/1 (1000Genomes)
A=0.000337/45 (GnomAD)
A=0.001667/1 (NorthernSweden)
A=0.002679/12 (Estonian)
HGVS:: NC_000001.11:g.93227989_93227990insA, NC_000001.10:g.93693546_93693547insA

Select item 149107675612.

rs1491076756 has merged into rs60117060 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,T,TT,TTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:93215463 (GRCh38)
1:93681020 (GRCh37)
Canonical SPDI:: NC_000001.11:93215455:TTTTTTTTTTTTTTT:TTTTTTT,NC_000001.11:93215455:TTTTTTTTTTTTTTT:TTTTTTTT,NC_000001.11:93215455:TTTTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:93215455:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:93215455:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:93215455:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:93215455:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:93215455:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:93215455:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:93215455:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:93215455:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:93215455:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:93215455:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:93215455:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:93215455:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:93215455:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:93215455:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CCDC18 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
-=0.11947/570 (1000Genomes)
-=0.125/5 (GENOME_DK)
HGVS:: NC_000001.11:g.93215463_93215470del, NC_000001.11:g.93215464_93215470del, NC_000001.11:g.93215465_93215470del, NC_000001.11:g.93215467_93215470del, NC_000001.11:g.93215469_93215470del, NC_000001.11:g.93215470del, NC_000001.11:g.93215470dup, NC_000001.11:g.93215469_93215470dup, NC_000001.11:g.93215468_93215470dup, NC_000001.11:g.93215467_93215470dup, NC_000001.11:g.93215465_93215470dup, NC_000001.11:g.93215464_93215470dup, NC_000001.11:g.93215463_93215470dup, NC_000001.11:g.93215460_93215470dup, NC_000001.11:g.93215459_93215470dup, NC_000001.11:g.93215457_93215470dup, NC_000001.11:g.93215470_93215471insTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.93681020_93681027del, NC_000001.10:g.93681021_93681027del, NC_000001.10:g.93681022_93681027del, NC_000001.10:g.93681024_93681027del, NC_000001.10:g.93681026_93681027del, NC_000001.10:g.93681027del, NC_000001.10:g.93681027dup, NC_000001.10:g.93681026_93681027dup, NC_000001.10:g.93681025_93681027dup, NC_000001.10:g.93681024_93681027dup, NC_000001.10:g.93681022_93681027dup, NC_000001.10:g.93681021_93681027dup, NC_000001.10:g.93681020_93681027dup, NC_000001.10:g.93681017_93681027dup, NC_000001.10:g.93681016_93681027dup, NC_000001.10:g.93681014_93681027dup, NC_000001.10:g.93681027_93681028insTTTTTTTTTTTTTTTTTTTTTT

Select item 149105945513.

rs1491059455 has merged into rs1242372304 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,TTTTT [Show Flanks]
Chromosome:: 1:93272113 (GRCh38)
1:93737670 (GRCh37)
Canonical SPDI:: NC_000001.11:93272109:TTTTTTT:TTT,NC_000001.11:93272109:TTTTTTT:TTTTTTTT
Gene:: CCDC18 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0./0 (Korea1K)
-=0.00011/2 (TOMMO)
HGVS:: NC_000001.11:g.93272113_93272116del, NC_000001.11:g.93272116dup, NC_000001.10:g.93737670_93737673del, NC_000001.10:g.93737673dup, XM_017001154.3:c.*1158_*1161del, XM_017001154.3:c.*1161dup, XM_017001154.2:c.*1158_*1161del, XM_017001154.2:c.*1161dup, XM_017001154.1:c.*1158_*1161del, XM_017001154.1:c.*1161dup, XM_017001155.3:c.*1158_*1161del, XM_017001155.3:c.*1161dup, XM_017001155.2:c.*1158_*1161del, XM_017001155.2:c.*1161dup, XM_017001155.1:c.*1158_*1161del, XM_017001155.1:c.*1161dup, XM_017001156.3:c.*1158_*1161del, XM_017001156.3:c.*1161dup, XM_017001156.2:c.*1158_*1161del, XM_017001156.2:c.*1161dup, XM_017001156.1:c.*1158_*1161del, XM_017001156.1:c.*1161dup, XM_017001157.3:c.*1158_*1161del, XM_017001157.3:c.*1161dup, XM_017001157.2:c.*1158_*1161del, XM_017001157.2:c.*1161dup, XM_017001157.1:c.*1158_*1161del, XM_017001157.1:c.*1161dup, XM_017001162.3:c.*1158_*1161del, XM_017001162.3:c.*1161dup, XM_017001162.2:c.*1158_*1161del, XM_017001162.2:c.*1161dup, XM_017001162.1:c.*1158_*1161del, XM_017001162.1:c.*1161dup, XM_017001164.3:c.*1158_*1161del, XM_017001164.3:c.*1161dup, XM_017001164.2:c.*1158_*1161del, XM_017001164.2:c.*1161dup, XM_017001164.1:c.*1158_*1161del, XM_017001164.1:c.*1161dup, XM_017001159.3:c.*1158_*1161del, XM_017001159.3:c.*1161dup, XM_017001159.2:c.*1158_*1161del, XM_017001159.2:c.*1161dup, XM_017001159.1:c.*1158_*1161del, XM_017001159.1:c.*1161dup, XM_017001160.3:c.*1158_*1161del, XM_017001160.3:c.*1161dup, XM_017001160.2:c.*1158_*1161del, XM_017001160.2:c.*1161dup, XM_017001160.1:c.*1158_*1161del, XM_017001160.1:c.*1161dup, XM_017001167.3:c.*1158_*1161del, XM_017001167.3:c.*1161dup, XM_017001167.2:c.*1158_*1161del, XM_017001167.2:c.*1161dup, XM_017001167.1:c.*1158_*1161del, XM_017001167.1:c.*1161dup, XM_017001171.3:c.*1158_*1161del, XM_017001171.3:c.*1161dup, XM_017001171.2:c.*1158_*1161del, XM_017001171.2:c.*1161dup, XM_017001171.1:c.*1158_*1161del, XM_017001171.1:c.*1161dup, XM_047419520.1:c.*7158_*7161del, XM_047419520.1:c.*7161dup, XM_047419444.1:c.*1158_*1161del, XM_047419444.1:c.*1161dup, XM_047419449.1:c.*1158_*1161del, XM_047419449.1:c.*1161dup, XM_047419459.1:c.*1158_*1161del, XM_047419459.1:c.*1161dup, XM_047419468.1:c.*1158_*1161del, XM_047419468.1:c.*1161dup, XM_047419476.1:c.*1158_*1161del, XM_047419476.1:c.*1161dup, XM_047419482.1:c.*1158_*1161del, XM_047419482.1:c.*1161dup, XM_047419488.1:c.*1158_*1161del, XM_047419488.1:c.*1161dup, XM_047419490.1:c.*1158_*1161del, XM_047419490.1:c.*1161dup, XM_047419493.1:c.*1158_*1161del, XM_047419493.1:c.*1161dup, XM_047419508.1:c.*1158_*1161del, XM_047419508.1:c.*1161dup, XM_047419512.1:c.*1158_*1161del, XM_047419512.1:c.*1161dup, XM_047419525.1:c.*1158_*1161del, XM_047419525.1:c.*1161dup, XM_047419527.1:c.*1158_*1161del, XM_047419527.1:c.*1161dup, XM_047419528.1:c.*1158_*1161del, XM_047419528.1:c.*1161dup

Select item 149104534314.

rs1491045343 has merged into rs34857910 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 1:93225790 (GRCh38)
1:93691347 (GRCh37)
Canonical SPDI:: NC_000001.11:93225776:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:93225776:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:93225776:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:93225776:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:93225776:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:93225776:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:93225776:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: CCDC18 (Varview), LOC107985521 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.08304/48 (NorthernSweden)
HGVS:: NC_000001.11:g.93225790_93225792del, NC_000001.11:g.93225791_93225792del, NC_000001.11:g.93225792del, NC_000001.11:g.93225792dup, NC_000001.11:g.93225791_93225792dup, NC_000001.11:g.93225790_93225792dup, NC_000001.11:g.93225788_93225792dup, NC_000001.10:g.93691347_93691349del, NC_000001.10:g.93691348_93691349del, NC_000001.10:g.93691349del, NC_000001.10:g.93691349dup, NC_000001.10:g.93691348_93691349dup, NC_000001.10:g.93691347_93691349dup, NC_000001.10:g.93691345_93691349dup

Select item 149095026115.

rs1490950261 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:93189908 (GRCh38)
1:93655465 (GRCh37)
Canonical SPDI:: NC_000001.11:93189907:C:T
Gene:: CCDC18 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.93189908C>T, NC_000001.10:g.93655465C>T

Select item 149092432316.

rs1490924323 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:93267680 (GRCh38)
1:93733237 (GRCh37)
Canonical SPDI:: NC_000001.11:93267679:C:T
Gene:: CCDC18 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.93267680C>T, NC_000001.10:g.93733237C>T, XM_047419520.1:c.*2725C>T

Select item 149089368617.

rs1490893686 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:93233358 (GRCh38)
1:93698915 (GRCh37)
Canonical SPDI:: NC_000001.11:93233357:A:G
Gene:: CCDC18 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_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_000001.11:g.93233358A>G, NC_000001.10:g.93698915A>G

Select item 149080236518.

rs1490802365 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:93195632 (GRCh38)
1:93661189 (GRCh37)
Canonical SPDI:: NC_000001.11:93195631:G:C
Gene:: CCDC18 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.93195632G>C, NC_000001.10:g.93661189G>C

Select item 149072362619.

rs1490723626 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:93215277 (GRCh38)
1:93680834 (GRCh37)
Canonical SPDI:: NC_000001.11:93215276:A:T
Gene:: CCDC18 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.93215277A>T, NC_000001.10:g.93680834A>T

Select item 149072361920.

rs1490723619 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:93259143 (GRCh38)
1:93724700 (GRCh37)
Canonical SPDI:: NC_000001.11:93259142:G:A
Gene:: CCDC18 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000001.11:g.93259143G>A, NC_000001.10:g.93724700G>A

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