SNP Links for Gene (Select 26094) - SNP

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Select item 14915422591.

rs1491542259 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 14:72953782 (GRCh38)
14:73420490 (GRCh37)
Canonical SPDI:: NC_000014.9:72953780:TTT:T
Gene:: DCAF4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00093/11 (ALFA)
-=0.00534/67 (GnomAD)
HGVS:: NC_000014.9:g.72953782_72953783del, NC_000014.8:g.73420490_73420491del, NG_047140.1:g.32451_32452del

Select item 14915194702.

rs1491519470 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 14:72960871 (GRCh38)
14:73427579 (GRCh37)
Canonical SPDI:: NC_000014.9:72960870:GC:
Gene:: DCAF4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.72960871_72960872del, NC_000014.8:g.73427579_73427580del, NG_027388.3:g.378_379del, NG_047140.1:g.39540_39541del, NM_001352448.3:c.*140_*141del, NM_001352448.2:c.*140_*141del, NM_001352448.1:c.*140_*141del, XM_047431256.1:c.*140_*141del, XM_047431257.1:c.*140_*141del

Select item 14914258603.

rs1491425860 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->GTTTTTTTTTTTTTTTTTT
Chromosome:: no mapping
Canonical SPDI:

Select item 14912860524.

rs1491286052 has merged into rs1370338616 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC [Show Flanks]
Chromosome:: 14:72960872 (GRCh38)
14:73427580 (GRCh37)
Canonical SPDI:: NC_000014.9:72960871:CCCCCCCC:CCCCCCC,NC_000014.9:72960871:CCCCCCCC:CCCCCCCCC
Gene:: DCAF4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCC=0.00006/1 (ALFA)
-=0.00032/5 (TOMMO)
-=0.00062/4 (1000Genomes)
HGVS:: NC_000014.9:g.72960879del, NC_000014.9:g.72960879dup, NC_000014.8:g.73427587del, NC_000014.8:g.73427587dup, NG_027388.3:g.386del, NG_027388.3:g.386dup, NG_047140.1:g.39548del, NG_047140.1:g.39548dup, NM_001352448.3:c.*148del, NM_001352448.3:c.*148dup, NM_001352448.2:c.*148del, NM_001352448.2:c.*148dup, NM_001352448.1:c.*148del, NM_001352448.1:c.*148dup, XM_047431256.1:c.*148del, XM_047431256.1:c.*148dup, XM_047431257.1:c.*148del, XM_047431257.1:c.*148dup

Select item 14912636255.

rs1491263625 has merged into rs56871190 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT,ATATAT,ATATATAT [Show Flanks]
Chromosome:: 14:72930653 (GRCh38)
14:73397361 (GRCh37)
Canonical SPDI:: NC_000014.9:72930641:TATATATATATAT:TATATATATAT,NC_000014.9:72930641:TATATATATATAT:TATATATATATATAT,NC_000014.9:72930641:TATATATATATAT:TATATATATATATATAT,NC_000014.9:72930641:TATATATATATAT:TATATATATATATATATAT
Gene:: DCAF4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATAT=0./0 (ALFA)
TA=0.3061/1533 (1000Genomes)
TA=0.3233/194 (NorthernSweden)
TA=0.3333/72 (Vietnamese)
TA=0.3677/367 (GoNL)
TA=0.475/19 (GENOME_DK)
HGVS:: NC_000014.9:g.72930643AT[5], NC_000014.9:g.72930643AT[7], NC_000014.9:g.72930643AT[8], NC_000014.9:g.72930643AT[9], NC_000014.8:g.73397351AT[5], NC_000014.8:g.73397351AT[7], NC_000014.8:g.73397351AT[8], NC_000014.8:g.73397351AT[9], NG_047140.1:g.9312AT[5], NG_047140.1:g.9312AT[7], NG_047140.1:g.9312AT[8], NG_047140.1:g.9312AT[9]

Select item 14912488386.

rs1491248838 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 14:72953781 (GRCh38)
14:73420490 (GRCh37)
Canonical SPDI:: NC_000014.9:72953781::G
Gene:: DCAF4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.00128/22 (GnomAD)
G=0.00595/2 (NorthernSweden)
HGVS:: NC_000014.9:g.72953781_72953782insG, NC_000014.8:g.73420489_73420490insG, NG_047140.1:g.32450_32451insG

Select item 14911901937.

rs1491190193 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 14:72946227 (GRCh38)
14:73412935 (GRCh37)
Canonical SPDI:: NC_000014.9:72946225:ACA:A
Gene:: DCAF4 (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000014.9:g.72946227_72946228del, NC_000014.8:g.73412935_73412936del, NG_047140.1:g.24896_24897del

Select item 14911608178.

rs1491160817 has merged into rs565229070 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 14:72928200 (GRCh38)
14:73394908 (GRCh37)
Canonical SPDI:: NC_000014.9:72928187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:72928187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:72928187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:72928187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:72928187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:72928187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:72928187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:72928187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:72928187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:72928187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:72928187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:72928187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:72928187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:72928187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:72928187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:72928187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:72928187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:72928187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:72928187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:72928187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:72928187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:72928187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:72928187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:72928187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:72928187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:72928187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:72928187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:72928187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:72928187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:72928187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:72928187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:72928187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:72928187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:72928187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:72928187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:72928187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:72928187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:72928187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:72928187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:72928187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:72928187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:72928187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:72928187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:72928187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:72928187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:72928187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:72928187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:72928187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:72928187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:72928187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:72928187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:72928187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:72928187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DCAF4 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.3444/1725 (1000Genomes)
HGVS:: NC_000014.9:g.72928200_72928210del, NC_000014.9:g.72928201_72928210del, NC_000014.9:g.72928202_72928210del, NC_000014.9:g.72928203_72928210del, NC_000014.9:g.72928204_72928210del, NC_000014.9:g.72928205_72928210del, NC_000014.9:g.72928206_72928210del, NC_000014.9:g.72928207_72928210del, NC_000014.9:g.72928208_72928210del, NC_000014.9:g.72928209_72928210del, NC_000014.9:g.72928210del, NC_000014.9:g.72928210dup, NC_000014.9:g.72928209_72928210dup, NC_000014.9:g.72928208_72928210dup, NC_000014.9:g.72928207_72928210dup, NC_000014.9:g.72928206_72928210dup, NC_000014.9:g.72928205_72928210dup, NC_000014.9:g.72928204_72928210dup, NC_000014.9:g.72928203_72928210dup, NC_000014.9:g.72928202_72928210dup, NC_000014.9:g.72928201_72928210dup, NC_000014.9:g.72928200_72928210dup, NC_000014.9:g.72928199_72928210dup, NC_000014.9:g.72928198_72928210dup, NC_000014.9:g.72928197_72928210dup, NC_000014.9:g.72928196_72928210dup, NC_000014.9:g.72928195_72928210dup, NC_000014.9:g.72928194_72928210dup, NC_000014.9:g.72928193_72928210dup, NC_000014.9:g.72928192_72928210dup, NC_000014.9:g.72928191_72928210dup, NC_000014.9:g.72928190_72928210dup, NC_000014.9:g.72928189_72928210dup, NC_000014.9:g.72928188_72928210dup, NC_000014.9:g.72928210_72928211insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.72928210_72928211insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.72928210_72928211insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.72928210_72928211insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.72928210_72928211insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.72928210_72928211insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.72928210_72928211insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.72928210_72928211insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.72928210_72928211insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.72928210_72928211insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.72928210_72928211insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.72928210_72928211insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.72928210_72928211insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.72928210_72928211insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.72928210_72928211insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.72928210_72928211insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.72928210_72928211insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.72928210_72928211insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.72928210_72928211insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.73394908_73394918del, NC_000014.8:g.73394909_73394918del, NC_000014.8:g.73394910_73394918del, NC_000014.8:g.73394911_73394918del, NC_000014.8:g.73394912_73394918del, NC_000014.8:g.73394913_73394918del, NC_000014.8:g.73394914_73394918del, NC_000014.8:g.73394915_73394918del, NC_000014.8:g.73394916_73394918del, NC_000014.8:g.73394917_73394918del, NC_000014.8:g.73394918del, NC_000014.8:g.73394918dup, NC_000014.8:g.73394917_73394918dup, NC_000014.8:g.73394916_73394918dup, NC_000014.8:g.73394915_73394918dup, NC_000014.8:g.73394914_73394918dup, NC_000014.8:g.73394913_73394918dup, NC_000014.8:g.73394912_73394918dup, NC_000014.8:g.73394911_73394918dup, NC_000014.8:g.73394910_73394918dup, NC_000014.8:g.73394909_73394918dup, NC_000014.8:g.73394908_73394918dup, NC_000014.8:g.73394907_73394918dup, NC_000014.8:g.73394906_73394918dup, NC_000014.8:g.73394905_73394918dup, NC_000014.8:g.73394904_73394918dup, NC_000014.8:g.73394903_73394918dup, NC_000014.8:g.73394902_73394918dup, NC_000014.8:g.73394901_73394918dup, NC_000014.8:g.73394900_73394918dup, NC_000014.8:g.73394899_73394918dup, NC_000014.8:g.73394898_73394918dup, NC_000014.8:g.73394897_73394918dup, NC_000014.8:g.73394896_73394918dup, NC_000014.8:g.73394918_73394919insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.73394918_73394919insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.73394918_73394919insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.73394918_73394919insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.73394918_73394919insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.73394918_73394919insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.73394918_73394919insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.73394918_73394919insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.73394918_73394919insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.73394918_73394919insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.73394918_73394919insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.73394918_73394919insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.73394918_73394919insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.73394918_73394919insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.73394918_73394919insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.73394918_73394919insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.73394918_73394919insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.73394918_73394919insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.73394918_73394919insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047140.1:g.6869_6879del, NG_047140.1:g.6870_6879del, NG_047140.1:g.6871_6879del, NG_047140.1:g.6872_6879del, NG_047140.1:g.6873_6879del, NG_047140.1:g.6874_6879del, NG_047140.1:g.6875_6879del, NG_047140.1:g.6876_6879del, NG_047140.1:g.6877_6879del, NG_047140.1:g.6878_6879del, NG_047140.1:g.6879del, NG_047140.1:g.6879dup, NG_047140.1:g.6878_6879dup, NG_047140.1:g.6877_6879dup, NG_047140.1:g.6876_6879dup, NG_047140.1:g.6875_6879dup, NG_047140.1:g.6874_6879dup, NG_047140.1:g.6873_6879dup, NG_047140.1:g.6872_6879dup, NG_047140.1:g.6871_6879dup, NG_047140.1:g.6870_6879dup, NG_047140.1:g.6869_6879dup, NG_047140.1:g.6868_6879dup, NG_047140.1:g.6867_6879dup, NG_047140.1:g.6866_6879dup, NG_047140.1:g.6865_6879dup, NG_047140.1:g.6864_6879dup, NG_047140.1:g.6863_6879dup, NG_047140.1:g.6862_6879dup, NG_047140.1:g.6861_6879dup, NG_047140.1:g.6860_6879dup, NG_047140.1:g.6859_6879dup, NG_047140.1:g.6858_6879dup, NG_047140.1:g.6857_6879dup, NG_047140.1:g.6879_6880insTTTTTTTTTTTTTTTTTTTTTTTT, NG_047140.1:g.6879_6880insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047140.1:g.6879_6880insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047140.1:g.6879_6880insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047140.1:g.6879_6880insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047140.1:g.6879_6880insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047140.1:g.6879_6880insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047140.1:g.6879_6880insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047140.1:g.6879_6880insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047140.1:g.6879_6880insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047140.1:g.6879_6880insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047140.1:g.6879_6880insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047140.1:g.6879_6880insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047140.1:g.6879_6880insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047140.1:g.6879_6880insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047140.1:g.6879_6880insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047140.1:g.6879_6880insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047140.1:g.6879_6880insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047140.1:g.6879_6880insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14910337399.

rs1491033739 has merged into rs11288108 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,T,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 14:72937420 (GRCh38)
14:73404128 (GRCh37)
Canonical SPDI:: NC_000014.9:72937410:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000014.9:72937410:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000014.9:72937410:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:72937410:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:72937410:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:72937410:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:72937410:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:72937410:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:72937410:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:72937410:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:72937410:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:72937410:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:72937410:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:72937410:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:72937410:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:72937410:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:72937410:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:72937410:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:72937410:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:72937410:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:72937410:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:72937410:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:72937410:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DCAF4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
TT=0.475/19 (GENOME_DK)
HGVS:: NC_000014.9:g.72937420_72937430del, NC_000014.9:g.72937421_72937430del, NC_000014.9:g.72937423_72937430del, NC_000014.9:g.72937424_72937430del, NC_000014.9:g.72937426_72937430del, NC_000014.9:g.72937427_72937430del, NC_000014.9:g.72937428_72937430del, NC_000014.9:g.72937429_72937430del, NC_000014.9:g.72937430del, NC_000014.9:g.72937430dup, NC_000014.9:g.72937429_72937430dup, NC_000014.9:g.72937428_72937430dup, NC_000014.9:g.72937427_72937430dup, NC_000014.9:g.72937426_72937430dup, NC_000014.9:g.72937425_72937430dup, NC_000014.9:g.72937424_72937430dup, NC_000014.9:g.72937423_72937430dup, NC_000014.9:g.72937422_72937430dup, NC_000014.9:g.72937421_72937430dup, NC_000014.9:g.72937420_72937430dup, NC_000014.9:g.72937419_72937430dup, NC_000014.9:g.72937430_72937431insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.72937430_72937431insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.73404128_73404138del, NC_000014.8:g.73404129_73404138del, NC_000014.8:g.73404131_73404138del, NC_000014.8:g.73404132_73404138del, NC_000014.8:g.73404134_73404138del, NC_000014.8:g.73404135_73404138del, NC_000014.8:g.73404136_73404138del, NC_000014.8:g.73404137_73404138del, NC_000014.8:g.73404138del, NC_000014.8:g.73404138dup, NC_000014.8:g.73404137_73404138dup, NC_000014.8:g.73404136_73404138dup, NC_000014.8:g.73404135_73404138dup, NC_000014.8:g.73404134_73404138dup, NC_000014.8:g.73404133_73404138dup, NC_000014.8:g.73404132_73404138dup, NC_000014.8:g.73404131_73404138dup, NC_000014.8:g.73404130_73404138dup, NC_000014.8:g.73404129_73404138dup, NC_000014.8:g.73404128_73404138dup, NC_000014.8:g.73404127_73404138dup, NC_000014.8:g.73404138_73404139insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.73404138_73404139insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047140.1:g.16089_16099del, NG_047140.1:g.16090_16099del, NG_047140.1:g.16092_16099del, NG_047140.1:g.16093_16099del, NG_047140.1:g.16095_16099del, NG_047140.1:g.16096_16099del, NG_047140.1:g.16097_16099del, NG_047140.1:g.16098_16099del, NG_047140.1:g.16099del, NG_047140.1:g.16099dup, NG_047140.1:g.16098_16099dup, NG_047140.1:g.16097_16099dup, NG_047140.1:g.16096_16099dup, NG_047140.1:g.16095_16099dup, NG_047140.1:g.16094_16099dup, NG_047140.1:g.16093_16099dup, NG_047140.1:g.16092_16099dup, NG_047140.1:g.16091_16099dup, NG_047140.1:g.16090_16099dup, NG_047140.1:g.16089_16099dup, NG_047140.1:g.16088_16099dup, NG_047140.1:g.16099_16100insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047140.1:g.16099_16100insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149099506910.

rs1490995069 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:72935355 (GRCh38)
14:73402063 (GRCh37)
Canonical SPDI:: NC_000014.9:72935354:A:G
Gene:: DCAF4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.72935355A>G, NC_000014.8:g.73402063A>G, NG_047140.1:g.14024A>G

Select item 149098861811.

rs1490988618 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:72949347 (GRCh38)
14:73416055 (GRCh37)
Canonical SPDI:: NC_000014.9:72949346:T:C
Gene:: DCAF4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.72949347T>C, NC_000014.8:g.73416055T>C, NG_047140.1:g.28016T>C

Select item 149095638612.

rs1490956386 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 14:72950336 (GRCh38)
14:73417044 (GRCh37)
Canonical SPDI:: NC_000014.9:72950335:A:T
Gene:: DCAF4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000014.9:g.72950336A>T, NC_000014.8:g.73417044A>T, NG_047140.1:g.29005A>T

Select item 149085835713.

rs1490858357 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 14:72930109 (GRCh38)
14:73396817 (GRCh37)
Canonical SPDI:: NC_000014.9:72930108:G:A,NC_000014.9:72930108:G:C
Gene:: DCAF4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000014.9:g.72930109G>A, NC_000014.9:g.72930109G>C, NC_000014.8:g.73396817G>A, NC_000014.8:g.73396817G>C, NG_047140.1:g.8778G>A, NG_047140.1:g.8778G>C

Select item 149080918814.

rs1490809188 has merged into rs869220000 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 14:72955941 (GRCh38)
14:73422649 (GRCh37)
Canonical SPDI:: NC_000014.9:72955940:G:
Gene:: DCAF4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00304/85 (TOMMO)
HGVS:: NC_000014.9:g.72955941del, NC_000014.8:g.73422649del, NG_047140.1:g.34610del

Select item 149065097815.

rs1490650978 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:72927650 (GRCh38)
14:73394358 (GRCh37)
Canonical SPDI:: NC_000014.9:72927649:C:G
Gene:: DCAF4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.72927650C>G, NC_000014.8:g.73394358C>G, NG_047140.1:g.6319C>G

Select item 149062017916.

rs1490620179 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:72927066 (GRCh38)
14:73393774 (GRCh37)
Canonical SPDI:: NC_000014.9:72927065:C:T
Gene:: DCAF4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000014.9:g.72927066C>T, NC_000014.8:g.73393774C>T, NG_047140.1:g.5735C>T

Select item 149052734217.

rs1490527342 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:72955043 (GRCh38)
14:73421751 (GRCh37)
Canonical SPDI:: NC_000014.9:72955042:G:A
Gene:: DCAF4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.72955043G>A, NC_000014.8:g.73421751G>A, NG_047140.1:g.33712G>A

Select item 149040778018.

rs1490407780 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:72962462 (GRCh38)
14:73429170 (GRCh37)
Canonical SPDI:: NC_000014.9:72962461:C:T
Gene:: DCAF4 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.72962462C>T, NC_000014.8:g.73429170C>T, NG_047140.1:g.41131C>T

Select item 149039845019.

rs1490398450 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:72933415 (GRCh38)
14:73400123 (GRCh37)
Canonical SPDI:: NC_000014.9:72933414:C:T
Gene:: DCAF4 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000036/5 (GnomAD)
HGVS:: NC_000014.9:g.72933415C>T, NC_000014.8:g.73400123C>T, NG_047140.1:g.12084C>T

Select item 149034940220.

rs1490349402 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 14:72951465 (GRCh38)
14:73418173 (GRCh37)
Canonical SPDI:: NC_000014.9:72951464:C:A
Gene:: DCAF4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000108/2 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000283/5 (TOMMO)
A=0.000446/2 (Estonian)
HGVS:: NC_000014.9:g.72951465C>A, NC_000014.8:g.73418173C>A, NG_047140.1:g.30134C>A

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