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Select item 14911794461.

rs1491179446 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 6:28896571 (GRCh38)
6:28864348 (GRCh37)
Canonical SPDI:: NC_000006.12:28896570:GT:
Gene:: HCG14 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000098/11 (GnomAD)
HGVS:: NC_000006.12:g.28896571_28896572del, NC_000006.11:g.28864348_28864349del, NT_113891.3:g.387288dup, NT_113891.3:g.387270del, NT_167248.2:g.162153_162154del, NT_167248.1:g.167749_167750del, NT_167249.2:g.205992dup, NT_167249.2:g.205974del, NT_167247.2:g.162345dup, NT_167247.2:g.162327del, NT_167244.2:g.162155_162156del, NT_167244.1:g.167749_167750del, NR_104117.1:n.42_43del, NT_113891.2:g.387394dup, NT_113891.2:g.387376del, NT_167249.1:g.205290dup, NT_167249.1:g.205272del, NT_167247.1:g.167930dup, NT_167247.1:g.167912del

Select item 14910368172.

rs1491036817 has merged into rs70983976 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:28895833 (GRCh38)
6:28863610 (GRCh37)
Canonical SPDI:: NC_000006.12:28895823:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000006.12:28895823:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:28895823:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:28895823:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:28895823:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:28895823:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:28895823:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:28895823:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:28895823:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:28895823:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:28895823:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:28895823:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:28895823:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:28895823:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:28895823:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:28895823:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:28895823:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:28895823:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:28895823:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:28895823:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:28895823:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:28895823:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:28895823:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:28895823:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: HCG14 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000006.12:g.28895833_28895844del, NC_000006.12:g.28895834_28895844del, NC_000006.12:g.28895836_28895844del, NC_000006.12:g.28895837_28895844del, NC_000006.12:g.28895838_28895844del, NC_000006.12:g.28895839_28895844del, NC_000006.12:g.28895840_28895844del, NC_000006.12:g.28895841_28895844del, NC_000006.12:g.28895842_28895844del, NC_000006.12:g.28895843_28895844del, NC_000006.12:g.28895844del, NC_000006.12:g.28895844dup, NC_000006.12:g.28895843_28895844dup, NC_000006.12:g.28895842_28895844dup, NC_000006.12:g.28895841_28895844dup, NC_000006.12:g.28895840_28895844dup, NC_000006.12:g.28895839_28895844dup, NC_000006.12:g.28895838_28895844dup, NC_000006.12:g.28895837_28895844dup, NC_000006.12:g.28895836_28895844dup, NC_000006.12:g.28895835_28895844dup, NC_000006.12:g.28895834_28895844dup, NC_000006.12:g.28895833_28895844dup, NC_000006.12:g.28895844_28895845insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.28863610_28863621del, NC_000006.11:g.28863611_28863621del, NC_000006.11:g.28863613_28863621del, NC_000006.11:g.28863614_28863621del, NC_000006.11:g.28863615_28863621del, NC_000006.11:g.28863616_28863621del, NC_000006.11:g.28863617_28863621del, NC_000006.11:g.28863618_28863621del, NC_000006.11:g.28863619_28863621del, NC_000006.11:g.28863620_28863621del, NC_000006.11:g.28863621del, NC_000006.11:g.28863621dup, NC_000006.11:g.28863620_28863621dup, NC_000006.11:g.28863619_28863621dup, NC_000006.11:g.28863618_28863621dup, NC_000006.11:g.28863617_28863621dup, NC_000006.11:g.28863616_28863621dup, NC_000006.11:g.28863615_28863621dup, NC_000006.11:g.28863614_28863621dup, NC_000006.11:g.28863613_28863621dup, NC_000006.11:g.28863612_28863621dup, NC_000006.11:g.28863611_28863621dup, NC_000006.11:g.28863610_28863621dup, NC_000006.11:g.28863621_28863622insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NT_113891.3:g.386532_386543del, NT_113891.3:g.386533_386543del, NT_113891.3:g.386535_386543del, NT_113891.3:g.386536_386543del, NT_113891.3:g.386537_386543del, NT_113891.3:g.386538_386543del, NT_113891.3:g.386539_386543del, NT_113891.3:g.386540_386543del, NT_113891.3:g.386541_386543del, NT_113891.3:g.386542_386543del, NT_113891.3:g.386543del, NT_113891.3:g.386543dup, NT_113891.3:g.386542_386543dup, NT_113891.3:g.386541_386543dup, NT_113891.3:g.386540_386543dup, NT_113891.3:g.386539_386543dup, NT_113891.3:g.386538_386543dup, NT_113891.3:g.386537_386543dup, NT_113891.3:g.386536_386543dup, NT_113891.3:g.386535_386543dup, NT_113891.3:g.386534_386543dup, NT_113891.3:g.386533_386543dup, NT_113891.3:g.386532_386543dup, NT_113891.3:g.386543_386544insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NT_113891.2:g.386638_386649del, NT_113891.2:g.386639_386649del, NT_113891.2:g.386641_386649del, NT_113891.2:g.386642_386649del, NT_113891.2:g.386643_386649del, NT_113891.2:g.386644_386649del, NT_113891.2:g.386645_386649del, NT_113891.2:g.386646_386649del, NT_113891.2:g.386647_386649del, NT_113891.2:g.386648_386649del, NT_113891.2:g.386649del, NT_113891.2:g.386649dup, NT_113891.2:g.386648_386649dup, NT_113891.2:g.386647_386649dup, NT_113891.2:g.386646_386649dup, NT_113891.2:g.386645_386649dup, NT_113891.2:g.386644_386649dup, NT_113891.2:g.386643_386649dup, NT_113891.2:g.386642_386649dup, NT_113891.2:g.386641_386649dup, NT_113891.2:g.386640_386649dup, NT_113891.2:g.386639_386649dup, NT_113891.2:g.386638_386649dup, NT_113891.2:g.386649_386650insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NT_167248.2:g.161415_161426del, NT_167248.2:g.161416_161426del, NT_167248.2:g.161418_161426del, NT_167248.2:g.161419_161426del, NT_167248.2:g.161420_161426del, NT_167248.2:g.161421_161426del, NT_167248.2:g.161422_161426del, NT_167248.2:g.161423_161426del, NT_167248.2:g.161424_161426del, NT_167248.2:g.161425_161426del, NT_167248.2:g.161426del, NT_167248.2:g.161426dup, NT_167248.2:g.161425_161426dup, NT_167248.2:g.161424_161426dup, NT_167248.2:g.161423_161426dup, NT_167248.2:g.161422_161426dup, NT_167248.2:g.161421_161426dup, NT_167248.2:g.161420_161426dup, NT_167248.2:g.161419_161426dup, NT_167248.2:g.161418_161426dup, NT_167248.2:g.161417_161426dup, NT_167248.2:g.161416_161426dup, NT_167248.2:g.161415_161426dup, NT_167248.2:g.161426_161427insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NT_167248.1:g.167011_167022del, NT_167248.1:g.167012_167022del, NT_167248.1:g.167014_167022del, NT_167248.1:g.167015_167022del, NT_167248.1:g.167016_167022del, NT_167248.1:g.167017_167022del, NT_167248.1:g.167018_167022del, NT_167248.1:g.167019_167022del, NT_167248.1:g.167020_167022del, NT_167248.1:g.167021_167022del, NT_167248.1:g.167022del, NT_167248.1:g.167022dup, NT_167248.1:g.167021_167022dup, NT_167248.1:g.167020_167022dup, NT_167248.1:g.167019_167022dup, NT_167248.1:g.167018_167022dup, NT_167248.1:g.167017_167022dup, NT_167248.1:g.167016_167022dup, NT_167248.1:g.167015_167022dup, NT_167248.1:g.167014_167022dup, NT_167248.1:g.167013_167022dup, NT_167248.1:g.167012_167022dup, NT_167248.1:g.167011_167022dup, NT_167248.1:g.167022_167023insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NT_167249.2:g.205246_205247dup, NT_167249.2:g.205238_205247del, NT_167249.2:g.205239_205247del, NT_167249.2:g.205241_205247del, NT_167249.2:g.205242_205247del, NT_167249.2:g.205243_205247del, NT_167249.2:g.205244_205247del, NT_167249.2:g.205245_205247del, NT_167249.2:g.205246_205247del, NT_167249.2:g.205247del, NT_167249.2:g.205247dup, NT_167249.2:g.205245_205247dup, NT_167249.2:g.205244_205247dup, NT_167249.2:g.205243_205247dup, NT_167249.2:g.205242_205247dup, NT_167249.2:g.205241_205247dup, NT_167249.2:g.205240_205247dup, NT_167249.2:g.205239_205247dup, NT_167249.2:g.205238_205247dup, NT_167249.2:g.205237_205247dup, NT_167249.2:g.205236_205247dup, NT_167249.2:g.205235_205247dup, NT_167249.2:g.205234_205247dup, NT_167249.2:g.205247_205248insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NT_167247.2:g.161581A>T, NT_167247.2:g.161581_161592del, NT_167247.2:g.161581_161591del, NT_167247.2:g.161581_161589del, NT_167247.2:g.161581_161588del, NT_167247.2:g.161581_161587del, NT_167247.2:g.161581_161586del, NT_167247.2:g.161581_161585del, NT_167247.2:g.161581_161584del, NT_167247.2:g.161578ATT[1], NT_167247.2:g.161581_161582del, NT_167247.2:g.161581del, NT_167247.2:g.161581delinsTT, NT_167247.2:g.161581delinsTTT, NT_167247.2:g.161581delinsTTTT, NT_167247.2:g.161581delinsTTTTT, NT_167247.2:g.161581delinsTTTTTT, NT_167247.2:g.161581delinsTTTTTTT, NT_167247.2:g.161581delinsTTTTTTTT, NT_167247.2:g.161581delinsTTTTTTTTT, NT_167247.2:g.161581delinsTTTTTTTTTT, NT_167247.2:g.161581delinsTTTTTTTTTTT, NT_167247.2:g.161581delinsTTTTTTTTTTTT, NT_167247.2:g.161581delinsTTTTTTTTTTTTT, NT_167247.2:g.161581delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NT_167247.1:g.167166A>T, NT_167247.1:g.167166_167177del, NT_167247.1:g.167166_167176del, NT_167247.1:g.167166_167174del, NT_167247.1:g.167166_167173del, NT_167247.1:g.167166_167172del, NT_167247.1:g.167166_167171del, NT_167247.1:g.167166_167170del, NT_167247.1:g.167166_167169del, NT_167247.1:g.167163ATT[1], NT_167247.1:g.167166_167167del, NT_167247.1:g.167166del, NT_167247.1:g.167166delinsTT, NT_167247.1:g.167166delinsTTT, NT_167247.1:g.167166delinsTTTT, NT_167247.1:g.167166delinsTTTTT, NT_167247.1:g.167166delinsTTTTTT, NT_167247.1:g.167166delinsTTTTTTT, NT_167247.1:g.167166delinsTTTTTTTT, NT_167247.1:g.167166delinsTTTTTTTTT, NT_167247.1:g.167166delinsTTTTTTTTTT, NT_167247.1:g.167166delinsTTTTTTTTTTT, NT_167247.1:g.167166delinsTTTTTTTTTTTT, NT_167247.1:g.167166delinsTTTTTTTTTTTTT, NT_167247.1:g.167166delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NT_167244.2:g.161417_161428del, NT_167244.2:g.161418_161428del, NT_167244.2:g.161420_161428del, NT_167244.2:g.161421_161428del, NT_167244.2:g.161422_161428del, NT_167244.2:g.161423_161428del, NT_167244.2:g.161424_161428del, NT_167244.2:g.161425_161428del, NT_167244.2:g.161426_161428del, NT_167244.2:g.161427_161428del, NT_167244.2:g.161428del, NT_167244.2:g.161428dup, NT_167244.2:g.161427_161428dup, NT_167244.2:g.161426_161428dup, NT_167244.2:g.161425_161428dup, NT_167244.2:g.161424_161428dup, NT_167244.2:g.161423_161428dup, NT_167244.2:g.161422_161428dup, NT_167244.2:g.161421_161428dup, NT_167244.2:g.161420_161428dup, NT_167244.2:g.161419_161428dup, NT_167244.2:g.161418_161428dup, NT_167244.2:g.161417_161428dup, NT_167244.2:g.161428_161429insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NT_167244.1:g.167011_167022del, NT_167244.1:g.167012_167022del, NT_167244.1:g.167014_167022del, NT_167244.1:g.167015_167022del, NT_167244.1:g.167016_167022del, NT_167244.1:g.167017_167022del, NT_167244.1:g.167018_167022del, NT_167244.1:g.167019_167022del, NT_167244.1:g.167020_167022del, NT_167244.1:g.167021_167022del, NT_167244.1:g.167022del, NT_167244.1:g.167022dup, NT_167244.1:g.167021_167022dup, NT_167244.1:g.167020_167022dup, NT_167244.1:g.167019_167022dup, NT_167244.1:g.167018_167022dup, NT_167244.1:g.167017_167022dup, NT_167244.1:g.167016_167022dup, NT_167244.1:g.167015_167022dup, NT_167244.1:g.167014_167022dup, NT_167244.1:g.167013_167022dup, NT_167244.1:g.167012_167022dup, NT_167244.1:g.167011_167022dup, NT_167244.1:g.167022_167023insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NT_167249.1:g.204544_204545dup, NT_167249.1:g.204536_204545del, NT_167249.1:g.204537_204545del, NT_167249.1:g.204539_204545del, NT_167249.1:g.204540_204545del, NT_167249.1:g.204541_204545del, NT_167249.1:g.204542_204545del, NT_167249.1:g.204543_204545del, NT_167249.1:g.204544_204545del, NT_167249.1:g.204545del, NT_167249.1:g.204545dup, NT_167249.1:g.204543_204545dup, NT_167249.1:g.204542_204545dup, NT_167249.1:g.204541_204545dup, NT_167249.1:g.204540_204545dup, NT_167249.1:g.204539_204545dup, NT_167249.1:g.204538_204545dup, NT_167249.1:g.204537_204545dup, NT_167249.1:g.204536_204545dup, NT_167249.1:g.204535_204545dup, NT_167249.1:g.204534_204545dup, NT_167249.1:g.204533_204545dup, NT_167249.1:g.204532_204545dup, NT_167249.1:g.204545_204546insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14909994503.

rs1490999450 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:28897819 (GRCh38)
6:28865596 (GRCh37)
Canonical SPDI:: NC_000006.12:28897818:T:C
Gene:: HCG14 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_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_000006.12:g.28897819T>C, NC_000006.11:g.28865596T>C, NT_113891.3:g.388517T>C, NT_113891.2:g.388623T>C, NT_167248.2:g.163401T>C, NT_167248.1:g.168997T>C, NT_167249.2:g.207220T>C, NT_167249.1:g.206518T>C, NT_167247.2:g.163573T>C, NT_167247.1:g.169158T>C, NT_167244.2:g.163403T>C, NT_167244.1:g.168997T>C

Select item 14909328784.

rs1490932878 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:28896640 (GRCh38)
6:28864417 (GRCh37)
Canonical SPDI:: NC_000006.12:28896639:T:G
Gene:: HCG14 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.28896640T>G, NC_000006.11:g.28864417T>G, NT_113891.3:g.387337T>G, NT_113891.2:g.387443T>G, NT_167248.2:g.162222T>G, NT_167248.1:g.167818T>G, NT_167249.2:g.206041T>G, NT_167249.1:g.205339T>G, NT_167247.2:g.162394T>G, NT_167247.1:g.167979T>G, NT_167244.2:g.162224T>G, NT_167244.1:g.167818T>G, NR_104117.1:n.111T>G

Select item 14890291755.

rs1489029175 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:28897230 (GRCh38)
6:28865007 (GRCh37)
Canonical SPDI:: NC_000006.12:28897229:G:A
Gene:: HCG14 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.28897230G>A, NC_000006.11:g.28865007G>A, NT_113891.3:g.387927G>A, NT_113891.2:g.388033G>A, NT_167248.2:g.162812G>A, NT_167248.1:g.168408G>A, NT_167249.2:g.206631G>A, NT_167249.1:g.205929G>A, NT_167247.2:g.162984G>A, NT_167247.1:g.168569G>A, NT_167244.2:g.162814G>A, NT_167244.1:g.168408G>A, NR_104117.1:n.321G>A

Select item 14886980376.

rs1488698037 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:28896048 (GRCh38)
6:28863825 (GRCh37)
Canonical SPDI:: NC_000006.12:28896047:T:A
Gene:: HCG14 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.28896048T>A, NC_000006.11:g.28863825T>A, NT_113891.3:g.386747T>A, NT_113891.2:g.386853T>A, NT_167248.2:g.161630T>A, NT_167248.1:g.167226T>A, NT_167249.2:g.205451T>A, NT_167249.1:g.204749T>A, NT_167247.2:g.161804T>A, NT_167247.1:g.167389T>A, NT_167244.2:g.161632T>A, NT_167244.1:g.167226T>A

Select item 14879942297.

rs1487994229 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:28895990 (GRCh38)
6:28863767 (GRCh37)
Canonical SPDI:: NC_000006.12:28895989:T:C
Gene:: HCG14 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.28895990T>C, NC_000006.11:g.28863767T>C, NT_113891.3:g.386689T>C, NT_113891.2:g.386795T>C, NT_167248.2:g.161572T>C, NT_167248.1:g.167168T>C, NT_167249.2:g.205393T>C, NT_167249.1:g.204691T>C, NT_167247.2:g.161746T>C, NT_167247.1:g.167331T>C, NT_167244.2:g.161574T>C, NT_167244.1:g.167168T>C

Select item 14870580488.

rs1487058048 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:28894727 (GRCh38)
6:28862504 (GRCh37)
Canonical SPDI:: NC_000006.12:28894726:C:G
Gene:: HCG14 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.28894727C>G, NC_000006.11:g.28862504C>G, NT_113891.3:g.385427C>G, NT_113891.2:g.385533C>G, NT_167248.2:g.160309C>G, NT_167248.1:g.165905C>G, NT_167249.2:g.204135C>G, NT_167249.1:g.203433C>G, NT_167247.2:g.160484C>G, NT_167247.1:g.166069C>G, NT_167244.2:g.160311C>G, NT_167244.1:g.165905C>G

Select item 14868128589.

rs1486812858 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 6:28895568 (GRCh38)
6:28863345 (GRCh37)
Canonical SPDI:: NC_000006.12:28895567:G:C,NC_000006.12:28895567:G:T
Gene:: HCG14 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.28895568G>C, NC_000006.12:g.28895568G>T, NC_000006.11:g.28863345G>C, NC_000006.11:g.28863345G>T, NT_113891.3:g.386265G>C, NT_113891.3:g.386265G>T, NT_113891.2:g.386371G>C, NT_113891.2:g.386371G>T, NT_167248.2:g.161150G>C, NT_167248.2:g.161150G>T, NT_167248.1:g.166746G>C, NT_167248.1:g.166746G>T, NT_167249.2:g.204973G>C, NT_167249.2:g.204973G>T, NT_167249.1:g.204271G>C, NT_167249.1:g.204271G>T, NT_167247.2:g.161326G>C, NT_167247.2:g.161326G>T, NT_167247.1:g.166911G>C, NT_167247.1:g.166911G>T, NT_167244.2:g.161152G>C, NT_167244.2:g.161152G>T, NT_167244.1:g.166746G>C, NT_167244.1:g.166746G>T

Select item 148615020710.

rs1486150207 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:28894719 (GRCh38)
6:28862496 (GRCh37)
Canonical SPDI:: NC_000006.12:28894718:C:T
Gene:: HCG14 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000006.12:g.28894719C>T, NC_000006.11:g.28862496C>T, NT_113891.3:g.385419C>T, NT_113891.2:g.385525C>T, NT_167248.2:g.160301C>T, NT_167248.1:g.165897C>T, NT_167249.2:g.204127C>T, NT_167249.1:g.203425C>T, NT_167247.2:g.160476C>T, NT_167247.1:g.166061C>T, NT_167244.2:g.160303C>T, NT_167244.1:g.165897C>T

Select item 148583297911.

rs1485832979 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAT>- [Show Flanks]
Chromosome:: 6:28894778 (GRCh38)
6:28862555 (GRCh37)
Canonical SPDI:: NC_000006.12:28894776:TAAT:T
Gene:: HCG14 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00042/5 (ALFA)
-=0.00011/3 (TOMMO)
-=0.00475/152 (GnomAD)
HGVS:: NC_000006.12:g.28894778_28894780del, NC_000006.11:g.28862555_28862557del, NT_113891.3:g.385474_385475insTA, NT_113891.3:g.385475del, NT_167248.2:g.160360_160362del, NT_167248.1:g.165956_165958del, NT_167249.2:g.204182_204183insTA, NT_167249.2:g.204183del, NT_167247.2:g.160535T>A, NT_167247.2:g.160536ATT[1], NT_167247.1:g.166120T>A, NT_167247.1:g.166121ATT[1], NT_167244.2:g.160362_160364del, NT_167244.1:g.165956_165958del, NT_113891.2:g.385580_385581insTA, NT_113891.2:g.385581del, NT_167249.1:g.203480_203481insTA, NT_167249.1:g.203481del

Select item 148576101012.

rs1485761010 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 6:28896250 (GRCh38)
6:28864027 (GRCh37)
Canonical SPDI:: NC_000006.12:28896249:C:A,NC_000006.12:28896249:C:G,NC_000006.12:28896249:C:T
Gene:: HCG14 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000006.12:g.28896250C>A, NC_000006.12:g.28896250C>G, NC_000006.12:g.28896250C>T, NC_000006.11:g.28864027C>A, NC_000006.11:g.28864027C>G, NC_000006.11:g.28864027C>T, NT_113891.3:g.386949C>A, NT_113891.3:g.386949C>G, NT_113891.3:g.386949C>T, NT_113891.2:g.387055C>A, NT_113891.2:g.387055C>G, NT_113891.2:g.387055C>T, NT_167248.2:g.161832C>A, NT_167248.2:g.161832C>G, NT_167248.2:g.161832C>T, NT_167248.1:g.167428C>A, NT_167248.1:g.167428C>G, NT_167248.1:g.167428C>T, NT_167249.2:g.205653C>A, NT_167249.2:g.205653C>G, NT_167249.2:g.205653C>T, NT_167249.1:g.204951C>A, NT_167249.1:g.204951C>G, NT_167249.1:g.204951C>T, NT_167247.2:g.162006C>A, NT_167247.2:g.162006C>G, NT_167247.2:g.162006C>T, NT_167247.1:g.167591C>A, NT_167247.1:g.167591C>G, NT_167247.1:g.167591C>T, NT_167244.2:g.161834C>A, NT_167244.2:g.161834C>G, NT_167244.2:g.161834C>T, NT_167244.1:g.167428C>A, NT_167244.1:g.167428C>G, NT_167244.1:g.167428C>T

Select item 148455778813.

rs1484557788 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:28895647 (GRCh38)
6:28863424 (GRCh37)
Canonical SPDI:: NC_000006.12:28895646:C:A
Gene:: HCG14 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000006.12:g.28895647C>A, NC_000006.11:g.28863424C>A, NT_113891.3:g.386344C>A, NT_113891.2:g.386450C>A, NT_167248.2:g.161229C>A, NT_167248.1:g.166825C>A, NT_167249.2:g.205052C>A, NT_167249.1:g.204350C>A, NT_167247.2:g.161405C>A, NT_167247.1:g.166990C>A, NT_167244.2:g.161231C>A, NT_167244.1:g.166825C>A

Select item 148390083014.

rs1483900830 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:28896091 (GRCh38)
6:28863868 (GRCh37)
Canonical SPDI:: NC_000006.12:28896090:T:C
Gene:: HCG14 (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_000006.12:g.28896091T>C, NC_000006.11:g.28863868T>C, NT_113891.3:g.386790T>C, NT_113891.2:g.386896T>C, NT_167248.2:g.161673T>C, NT_167248.1:g.167269T>C, NT_167249.2:g.205494T>C, NT_167249.1:g.204792T>C, NT_167247.2:g.161847T>C, NT_167247.1:g.167432T>C, NT_167244.2:g.161675T>C, NT_167244.1:g.167269T>C

Select item 148382666315.

rs1483826663 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:28895919 (GRCh38)
6:28863696 (GRCh37)
Canonical SPDI:: NC_000006.12:28895918:G:A,NC_000006.12:28895918:G:T
Gene:: HCG14 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.28895919G>A, NC_000006.12:g.28895919G>T, NC_000006.11:g.28863696G>A, NC_000006.11:g.28863696G>T, NT_113891.3:g.386618G>A, NT_113891.3:g.386618G>T, NT_113891.2:g.386724G>A, NT_113891.2:g.386724G>T, NT_167248.2:g.161501G>A, NT_167248.2:g.161501G>T, NT_167248.1:g.167097G>A, NT_167248.1:g.167097G>T, NT_167249.2:g.205322G>A, NT_167249.2:g.205322G>T, NT_167249.1:g.204620G>A, NT_167249.1:g.204620G>T, NT_167247.2:g.161675G>A, NT_167247.2:g.161675G>T, NT_167247.1:g.167260G>A, NT_167247.1:g.167260G>T, NT_167244.2:g.161503G>A, NT_167244.2:g.161503G>T, NT_167244.1:g.167097G>A, NT_167244.1:g.167097G>T

Select item 148379154816.

rs1483791548 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:28895258 (GRCh38)
6:28863035 (GRCh37)
Canonical SPDI:: NC_000006.12:28895257:A:G
Gene:: HCG14 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_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_000006.12:g.28895258A>G, NC_000006.11:g.28863035A>G, NT_113891.3:g.385955A>G, NT_113891.2:g.386061A>G, NT_167248.2:g.160840A>G, NT_167248.1:g.166436A>G, NT_167249.2:g.204663A>G, NT_167249.1:g.203961A>G, NT_167247.2:g.161016A>G, NT_167247.1:g.166601A>G, NT_167244.2:g.160842A>G, NT_167244.1:g.166436A>G

Select item 148239812517.

rs1482398125 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:28896752 (GRCh38)
6:28864529 (GRCh37)
Canonical SPDI:: NC_000006.12:28896751:T:A
Gene:: HCG14 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.28896752T>A, NC_000006.11:g.28864529T>A, NT_113891.3:g.387449T>A, NT_113891.2:g.387555T>A, NT_167248.2:g.162334T>A, NT_167248.1:g.167930T>A, NT_167249.2:g.206153T>A, NT_167249.1:g.205451T>A, NT_167247.2:g.162506T>A, NT_167247.1:g.168091T>A, NT_167244.2:g.162336T>A, NT_167244.1:g.167930T>A

Select item 148237298718.

rs1482372987 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 6:28895720 (GRCh38)
6:28863497 (GRCh37)
Canonical SPDI:: NC_000006.12:28895719:TTTTTT:TTTTT,NC_000006.12:28895719:TTTTTT:TTTTTTT
Gene:: HCG14 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
-=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.28895725del, NC_000006.12:g.28895725dup, NC_000006.11:g.28863502del, NC_000006.11:g.28863502dup, NT_113891.3:g.386422del, NT_113891.3:g.386422dup, NT_113891.2:g.386528del, NT_113891.2:g.386528dup, NT_167248.2:g.161307del, NT_167248.2:g.161307dup, NT_167248.1:g.166903del, NT_167248.1:g.166903dup, NT_167249.2:g.205130del, NT_167249.2:g.205130dup, NT_167249.1:g.204428del, NT_167249.1:g.204428dup, NT_167247.2:g.161483del, NT_167247.2:g.161483dup, NT_167247.1:g.167068del, NT_167247.1:g.167068dup, NT_167244.2:g.161309del, NT_167244.2:g.161309dup, NT_167244.1:g.166903del, NT_167244.1:g.166903dup

Select item 148229949319.

rs1482299493 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:28896473 (GRCh38)
6:28864250 (GRCh37)
Canonical SPDI:: NC_000006.12:28896472:A:T
Gene:: HCG14 (Varview)
Functional Consequence:: 2KB_upstream_variant,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_000006.12:g.28896473A>T, NC_000006.11:g.28864250A>T, NT_113891.3:g.387172A>T, NT_113891.2:g.387278A>T, NT_167248.2:g.162055A>T, NT_167248.1:g.167651A>T, NT_167249.2:g.205876A>T, NT_167249.1:g.205174A>T, NT_167247.2:g.162229A>T, NT_167247.1:g.167814A>T, NT_167244.2:g.162057A>T, NT_167244.1:g.167651A>T

Select item 148180339820.

rs1481803398 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 6:28896039 (GRCh38)
6:28863816 (GRCh37)
Canonical SPDI:: NC_000006.12:28896038:T:A,NC_000006.12:28896038:T:C
Gene:: HCG14 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.00042/5 (ALFA)
HGVS:: NC_000006.12:g.28896039T>A, NC_000006.12:g.28896039T>C, NC_000006.11:g.28863816T>A, NC_000006.11:g.28863816T>C, NT_113891.3:g.386738T>A, NT_113891.3:g.386738T>C, NT_113891.2:g.386844T>A, NT_113891.2:g.386844T>C, NT_167248.2:g.161621T>A, NT_167248.2:g.161621T>C, NT_167248.1:g.167217T>A, NT_167248.1:g.167217T>C, NT_167249.2:g.205442T>A, NT_167249.2:g.205442T>C, NT_167249.1:g.204740T>A, NT_167249.1:g.204740T>C, NT_167247.2:g.161795T>A, NT_167247.2:g.161795T>C, NT_167247.1:g.167380T>A, NT_167247.1:g.167380T>C, NT_167244.2:g.161623T>A, NT_167244.2:g.161623T>C, NT_167244.1:g.167217T>A, NT_167244.1:g.167217T>C

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