"human"[ORGN] and ELOVL5 - SNP

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Select item 87141.

rs8714 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:53269503 (GRCh38)
6:53134301 (GRCh37)
Canonical SPDI:: NC_000006.12:53269502:A:G
Gene:: ELOVL5 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.319727/6039 (ALFA)
G=0.26351/1180 (Estonian)
G=0.275551/275 (GoNL)
G=0.288272/4831 (TOMMO)
G=0.29/174 (NorthernSweden)
G=0.290607/1120 (ALSPAC)
G=0.296386/1099 (TWINSUK)
G=0.309556/907 (KOREAN)
G=0.361707/50589 (GnomAD)
G=0.366757/97077 (TOPMED)
A=0.385906/115 (SGDP_PRJ)
G=0.38785/83 (Vietnamese)
G=0.39772/1992 (1000Genomes)
G=0.4/16 (GENOME_DK)
G=0.439815/95 (Qatari)
A=0.5/11 (Siberian)
HGVS:: NC_000006.12:g.53269503A>G, NC_000006.11:g.53134301A>G, NG_034263.1:g.84677T>C

Select item 9743232.

rs974323 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:53294749 (GRCh38)
6:53159547 (GRCh37)
Canonical SPDI:: NC_000006.12:53294748:C:A,NC_000006.12:53294748:C:T
Gene:: ELOVL5 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.307196/77033 (ALFA)
T=0.193291/121 (Chileans)
T=0.267634/1199 (Estonian)
T=0.2876/4820 (TOMMO)
T=0.29/174 (NorthernSweden)
T=0.291583/291 (GoNL)
T=0.297613/1147 (ALSPAC)
T=0.302319/1121 (TWINSUK)
T=0.309898/908 (KOREAN)
T=0.342172/271 (PRJEB37584)
T=0.342373/47900 (GnomAD)
T=0.34656/91731 (TOPMED)
T=0.356128/28028 (PAGE_STUDY)
T=0.37258/1866 (1000Genomes)
T=0.38836/734 (HapMap)
C=0.401361/118 (SGDP_PRJ)
T=0.425/17 (GENOME_DK)
T=0.430556/93 (Qatari)
C=0.5/11 (Siberian)
HGVS:: NC_000006.12:g.53294749C>A, NC_000006.12:g.53294749C>T, NC_000006.11:g.53159547C>A, NC_000006.11:g.53159547C>T, NG_034263.1:g.59431G>T, NG_034263.1:g.59431G>A

Select item 22948573.

rs2294857 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 6:53294292 (GRCh38)
6:53159090 (GRCh37)
Canonical SPDI:: NC_000006.12:53294291:G:C,NC_000006.12:53294291:G:T
Gene:: ELOVL5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.065658/3251 (ALFA)
T=0.032468/20 (Vietnamese)
T=0.041463/237 (GoESP)
T=0.04328/725 (TOMMO)
T=0.046296/10 (Qatari)
T=0.05/2 (GENOME_DK)
T=0.055556/206 (TWINSUK)
T=0.056667/34 (NorthernSweden)
T=0.056769/104 (Korea1K)
T=0.058705/263 (Estonian)
T=0.059206/173 (KOREAN)
T=0.059419/229 (ALSPAC)
T=0.061412/8605 (GnomAD)
T=0.071049/356 (1000Genomes)
T=0.080094/21200 (TOPMED)
T=0.080524/43 (MGP)
T=0.082164/82 (GoNL)
T=0.097307/2074 (ExAC)
G=0.384615/40 (SGDP_PRJ)
G=0.5/6 (Siberian)
HGVS:: NC_000006.12:g.53294292G>C, NC_000006.12:g.53294292G>T, NC_000006.11:g.53159090G>C, NC_000006.11:g.53159090G>T, NG_034263.1:g.59888C>G, NG_034263.1:g.59888C>A, NM_001242831.2:c.258C>G, NM_001242831.2:c.258C>A, NM_001242831.1:c.258C>G, NM_001242831.1:c.258C>A

Select item 22948584.

rs2294858 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:53294601 (GRCh38)
6:53159399 (GRCh37)
Canonical SPDI:: NC_000006.12:53294600:T:C
Gene:: ELOVL5 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.063526/1200 (ALFA)
C=0.011236/6 (MGP)
C=0.04328/725 (TOMMO)
C=0.046296/10 (Qatari)
C=0.05/2 (GENOME_DK)
C=0.055556/206 (TWINSUK)
C=0.056667/34 (NorthernSweden)
C=0.056769/104 (Korea1K)
C=0.058522/171 (KOREAN)
C=0.058705/263 (Estonian)
C=0.059419/229 (ALSPAC)
C=0.061401/8607 (GnomAD)
C=0.066094/331 (1000Genomes)
C=0.080105/21203 (TOPMED)
C=0.082164/82 (GoNL)
T=0.384615/40 (SGDP_PRJ)
T=0.5/6 (Siberian)
HGVS:: NC_000006.12:g.53294601T>C, NC_000006.11:g.53159399T>C, NG_034263.1:g.59579A>G

Select item 22948595.

rs2294859 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:53294778 (GRCh38)
6:53159576 (GRCh37)
Canonical SPDI:: NC_000006.12:53294777:T:C
Gene:: ELOVL5 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.087151/2089 (ALFA)
C=0.04328/725 (TOMMO)
C=0.046296/10 (Qatari)
C=0.05/2 (GENOME_DK)
C=0.055491/95 (HapMap)
C=0.055556/206 (TWINSUK)
C=0.056667/34 (NorthernSweden)
C=0.056769/104 (Korea1K)
C=0.058705/263 (Estonian)
C=0.058864/172 (KOREAN)
C=0.059419/229 (ALSPAC)
C=0.061465/8616 (GnomAD)
C=0.071205/357 (1000Genomes)
C=0.080154/21216 (TOPMED)
C=0.082164/82 (GoNL)
C=0.220447/138 (Chileans)
T=0.384615/40 (SGDP_PRJ)
T=0.5/6 (Siberian)
HGVS:: NC_000006.12:g.53294778T>C, NC_000006.11:g.53159576T>C, NG_034263.1:g.59402A>G

PubMed

Select item 22948626.

rs2294862 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:53275363 (GRCh38)
6:53140161 (GRCh37)
Canonical SPDI:: NC_000006.12:53275362:G:A
Gene:: ELOVL5 (Varview), MIR5685 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.308849/7804 (ALFA)
A=0.162921/87 (MGP)
A=0.26808/1201 (Estonian)
A=0.288166/4830 (TOMMO)
A=0.291583/291 (GoNL)
A=0.295/177 (NorthernSweden)
A=0.297872/1148 (ALSPAC)
A=0.302859/1123 (TWINSUK)
A=0.309898/908 (KOREAN)
A=0.342783/47978 (GnomAD)
A=0.346723/91774 (TOPMED)
A=0.372267/1864 (1000Genomes)
A=0.391509/83 (Vietnamese)
G=0.397959/117 (SGDP_PRJ)
A=0.425/17 (GENOME_DK)
A=0.435185/94 (Qatari)
A=0.448276/26 (PRJEB36033)
G=0.5/11 (Siberian)
HGVS:: NC_000006.12:g.53275363G>A, NC_000006.11:g.53140161G>A, NG_034263.1:g.78817C>T

Select item 22948637.

rs2294863 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:53275962 (GRCh38)
6:53140760 (GRCh37)
Canonical SPDI:: NC_000006.12:53275961:G:A
Gene:: ELOVL5 (Varview), MIR5685 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.325622/6151 (ALFA)
A=0.014981/8 (MGP)
A=0.267857/1200 (Estonian)
A=0.288237/4831 (TOMMO)
A=0.291583/291 (GoNL)
A=0.295/177 (NorthernSweden)
A=0.298132/1149 (ALSPAC)
A=0.303128/1124 (TWINSUK)
A=0.309898/908 (KOREAN)
A=0.366882/51351 (GnomAD)
A=0.371246/98265 (TOPMED)
G=0.387417/117 (SGDP_PRJ)
A=0.399906/2003 (1000Genomes)
A=0.4/84 (Vietnamese)
A=0.425/17 (GENOME_DK)
A=0.425466/137 (HapMap)
A=0.439815/95 (Qatari)
G=0.5/11 (Siberian)
HGVS:: NC_000006.12:g.53275962G>A, NC_000006.11:g.53140760G>A, NG_034263.1:g.78218C>T

Select item 22948648.

rs2294864 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:53276130 (GRCh38)
6:53140928 (GRCh37)
Canonical SPDI:: NC_000006.12:53276129:T:A
Gene:: ELOVL5 (Varview), MIR5685 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.466113/13026 (ALFA)
A=0.244489/244 (GoNL)
T=0.292627/127 (SGDP_PRJ)
A=0.310861/166 (MGP)
A=0.331481/5556 (TOMMO)
T=0.357143/10 (Siberian)
A=0.367918/1078 (KOREAN)
T=0.375/81 (Qatari)
T=0.384778/101847 (TOPMED)
T=0.393293/129 (HapMap)
T=0.394441/1975 (1000Genomes)
T=0.397106/5160 (GoESP)
A=0.400662/121 (FINRISK)
T=0.404879/56726 (GnomAD)
A=0.43686/256 (Vietnamese)
A=0.451667/271 (NorthernSweden)
A=0.4625/2072 (Estonian)
A=0.472756/1822 (ALSPAC)
T=0.475/19 (GENOME_DK)
A=0.475458/1763 (TWINSUK)
T=0.482481/44064 (ExAC)
T=0.493758/101641 (GnomAD_exomes)
HGVS:: NC_000006.12:g.53276130T>A, NC_000006.11:g.53140928T>A, NG_034263.1:g.78050A>T

Select item 22948709.

rs2294870 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:53291666 (GRCh38)
6:53156464 (GRCh37)
Canonical SPDI:: NC_000006.12:53291665:A:C
Gene:: ELOVL5 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.063579/1201 (ALFA)
C=0.012579/4 (HapMap)
C=0.037037/8 (Vietnamese)
C=0.04328/725 (TOMMO)
C=0.046296/10 (Qatari)
C=0.05/2 (GENOME_DK)
C=0.055556/206 (TWINSUK)
C=0.056667/34 (NorthernSweden)
C=0.056769/104 (Korea1K)
C=0.058705/263 (Estonian)
C=0.058864/172 (KOREAN)
C=0.0589/227 (ALSPAC)
C=0.061388/8609 (GnomAD)
C=0.065543/35 (MGP)
C=0.071049/356 (1000Genomes)
C=0.080143/21213 (TOPMED)
C=0.082164/82 (GoNL)
A=0.384615/40 (SGDP_PRJ)
A=0.5/6 (Siberian)
HGVS:: NC_000006.12:g.53291666A>C, NC_000006.11:g.53156464A>C, NG_034263.1:g.62514T>G

Select item 321554510.

rs3215545 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,TT,TTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 6:53269458 (GRCh38)
6:53134256 (GRCh37)
Canonical SPDI:: NC_000006.12:53269450:TTTTTTTTTTT:TTTTTTT,NC_000006.12:53269450:TTTTTTTTTTT:TTTTTTTTT,NC_000006.12:53269450:TTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:53269450:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:53269450:TTTTTTTTTTT:TTTTTTTTTTTTT
Gene:: ELOVL5 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.000019/5 (TOPMED)
T=0.000212/4 (TOMMO)
T=0.013898/89 (1000Genomes)
HGVS:: NC_000006.12:g.53269458_53269461del, NC_000006.12:g.53269460_53269461del, NC_000006.12:g.53269461del, NC_000006.12:g.53269461dup, NC_000006.12:g.53269460_53269461dup, NC_000006.11:g.53134256_53134259del, NC_000006.11:g.53134258_53134259del, NC_000006.11:g.53134259del, NC_000006.11:g.53134259dup, NC_000006.11:g.53134258_53134259dup, NG_034263.1:g.84726_84729del, NG_034263.1:g.84728_84729del, NG_034263.1:g.84729del, NG_034263.1:g.84729dup, NG_034263.1:g.84728_84729dup

Select item 373673211.

rs3736732 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:53295585 (GRCh38)
6:53160383 (GRCh37)
Canonical SPDI:: NC_000006.12:53295584:G:T
Gene:: ELOVL5 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.476785/11645 (ALFA)
G=0.28972/124 (SGDP_PRJ)
T=0.330809/5544 (TOMMO)
G=0.357143/10 (Siberian)
T=0.366894/1075 (KOREAN)
G=0.378964/717 (HapMap)
G=0.397831/105302 (TOPMED)
G=0.400999/2008 (1000Genomes)
G=0.402778/87 (Qatari)
G=0.419135/58621 (GnomAD)
T=0.421667/253 (NorthernSweden)
T=0.422768/1894 (Estonian)
T=0.428571/90 (Vietnamese)
G=0.429917/1963 (GoESP)
T=0.449663/1733 (ALSPAC)
T=0.451726/1675 (TWINSUK)
T=0.467936/467 (GoNL)
T=0.47191/252 (MGP)
G=0.475/19 (GENOME_DK)
HGVS:: NC_000006.12:g.53295585G>T, NC_000006.11:g.53160383G>T, NG_034263.1:g.58595C>A

Select item 381796012.

rs3817960 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 6:53288047 (GRCh38)
6:53152845 (GRCh37)
Canonical SPDI:: NC_000006.12:53288046:T:A,NC_000006.12:53288046:T:G
Gene:: ELOVL5 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.160896/1961 (ALFA)
G=0.267188/1197 (Estonian)
G=0.287529/4819 (TOMMO)
G=0.29/174 (NorthernSweden)
G=0.291583/291 (GoNL)
G=0.296834/1144 (ALSPAC)
G=0.30205/1120 (TWINSUK)
G=0.308532/904 (KOREAN)
G=0.370943/98185 (TOPMED)
G=0.382075/81 (Vietnamese)
T=0.39/117 (SGDP_PRJ)
G=0.400219/2004 (1000Genomes)
G=0.425/17 (GENOME_DK)
G=0.439815/95 (Qatari)
T=0.5/11 (Siberian)
HGVS:: NC_000006.12:g.53288047T>A, NC_000006.12:g.53288047T>G, NC_000006.11:g.53152845T>A, NC_000006.11:g.53152845T>G, NG_034263.1:g.66133A>T, NG_034263.1:g.66133A>C

Select item 383080613.

rs3830806 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACAG [Show Flanks]
Chromosome:: 6:53269306 (GRCh38)
6:53134105 (GRCh37)
Canonical SPDI:: NC_000006.12:53269306:ACAG:ACAGACAG
Gene:: ELOVL5 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: ACAG=0.477605/12881 (ALFA)
ACAG=0.331375/5554 (TOMMO)
-=0.387582/102589 (TOPMED)
ACAG=0.391544/213 (Vietnamese)
-=0.393348/1970 (1000Genomes)
-=0.397667/4978 (GoESP)
-=0.407988/56938 (GnomAD)
ACAG=0.446667/268 (NorthernSweden)
ACAG=0.456473/2045 (Estonian)
ACAG=0.463415/1786 (ALSPAC)
ACAG=0.468177/1736 (TWINSUK)
ACAG=0.478958/478 (GoNL)
ACAG=0.491042/95983 (GnomAD_exomes)
-=0.496476/58178 (ExAC)
HGVS:: NC_000006.12:g.53269307_53269310dup, NC_000006.11:g.53134105_53134108dup, NG_034263.1:g.84870_84873dup

Select item 645891314.

rs6458913 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:53287844 (GRCh38)
6:53152642 (GRCh37)
Canonical SPDI:: NC_000006.12:53287843:G:A,NC_000006.12:53287843:G:C
Gene:: ELOVL5 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.292783/20325 (ALFA)
A=0.243243/18 (PRJEB36033)
A=0.267411/1198 (Estonian)
A=0.287423/4817 (TOMMO)
A=0.29/174 (NorthernSweden)
A=0.291583/291 (GoNL)
A=0.297872/1148 (ALSPAC)
A=0.302589/1122 (TWINSUK)
A=0.308191/903 (KOREAN)
A=0.311837/353 (Daghestan)
A=0.315263/40435 (GnomAD_exomes)
A=0.340691/710 (HGDP_Stanford)
A=0.370947/98186 (TOPMED)
A=0.384737/4149 (ExAC)
G=0.39/117 (SGDP_PRJ)
A=0.400219/2004 (1000Genomes)
A=0.40566/86 (Vietnamese)
A=0.416402/787 (HapMap)
A=0.425/17 (GENOME_DK)
A=0.439815/95 (Qatari)
G=0.5/11 (Siberian)
HGVS:: NC_000006.12:g.53287844G>A, NC_000006.12:g.53287844G>C, NC_000006.11:g.53152642G>A, NC_000006.11:g.53152642G>C, NG_034263.1:g.66336C>T, NG_034263.1:g.66336C>G

Select item 690510315.

rs6905103 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:53292132 (GRCh38)
6:53156930 (GRCh37)
Canonical SPDI:: NC_000006.12:53292131:G:A
Gene:: ELOVL5 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.002461/288 (ALFA)
A=0./0 (ALSPAC)
A=0./0 (PRJEB36033)
A=0.00027/1 (TWINSUK)
A=0.00463/1 (Qatari)
A=0.010077/21 (HGDP_Stanford)
A=0.011243/56 (1000Genomes)
A=0.011616/1627 (GnomAD)
A=0.011897/3149 (TOPMED)
A=0.017446/1373 (PAGE_STUDY)
A=0.02496/31 (HapMap)
G=0.4/8 (SGDP_PRJ)
HGVS:: NC_000006.12:g.53292132G>A, NC_000006.11:g.53156930G>A, NG_034263.1:g.62048C>T

Select item 690798216.

rs6907982 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 6:53287960 (GRCh38)
6:53152758 (GRCh37)
Canonical SPDI:: NC_000006.12:53287959:A:C,NC_000006.12:53287959:A:G,NC_000006.12:53287959:A:T
Gene:: ELOVL5 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.315338/8569 (ALFA)
G=0.267188/1197 (Estonian)
G=0.287565/4820 (TOMMO)
G=0.29/174 (NorthernSweden)
G=0.291583/291 (GoNL)
G=0.297613/1147 (ALSPAC)
G=0.302589/1122 (TWINSUK)
G=0.308191/903 (KOREAN)
G=0.310622/39877 (GnomAD_exomes)
G=0.342278/47936 (GnomAD)
G=0.346587/91738 (TOPMED)
G=0.37258/1866 (1000Genomes)
G=0.382478/4130 (ExAC)
G=0.386503/126 (HapMap)
A=0.401361/118 (SGDP_PRJ)
G=0.408654/85 (Vietnamese)
G=0.430556/93 (Qatari)
A=0.5/11 (Siberian)
HGVS:: NC_000006.12:g.53287960A>C, NC_000006.12:g.53287960A>G, NC_000006.12:g.53287960A>T, NC_000006.11:g.53152758A>C, NC_000006.11:g.53152758A>G, NC_000006.11:g.53152758A>T, NG_034263.1:g.66220T>G, NG_034263.1:g.66220T>C, NG_034263.1:g.66220T>A

Select item 946389517.

rs9463895 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:53273462 (GRCh38)
6:53138260 (GRCh37)
Canonical SPDI:: NC_000006.12:53273461:G:A
Gene:: ELOVL5 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.324749/9306 (ALFA)
A=0.162921/87 (MGP)
A=0.191693/120 (Chileans)
A=0.267634/1199 (Estonian)
A=0.288343/4833 (TOMMO)
A=0.289474/22 (PRJEB36033)
A=0.291583/291 (GoNL)
A=0.295/177 (NorthernSweden)
A=0.298132/1149 (ALSPAC)
A=0.302859/1123 (TWINSUK)
A=0.309556/907 (KOREAN)
A=0.366618/51328 (GnomAD)
A=0.371329/98287 (TOPMED)
G=0.386667/116 (SGDP_PRJ)
A=0.400062/2004 (1000Genomes)
A=0.41649/788 (HapMap)
A=0.425/17 (GENOME_DK)
A=0.439815/95 (Qatari)
G=0.5/11 (Siberian)
HGVS:: NC_000006.12:g.53273462G>A, NC_000006.11:g.53138260G>A, NG_034263.1:g.80718C>T

Select item 947447718.

rs9474477 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:53294435 (GRCh38)
6:53159233 (GRCh37)
Canonical SPDI:: NC_000006.12:53294434:G:A
Gene:: ELOVL5 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00767/367 (ALFA)
A=0./0 (ALSPAC)
A=0.000539/2 (TWINSUK)
A=0.001873/1 (MGP)
A=0.004375/654 (GnomAD_exomes)
A=0.005605/90 (ExAC)
A=0.009259/2 (Qatari)
A=0.013894/72 (GoESP)
A=0.022589/3166 (GnomAD)
A=0.023484/6216 (TOPMED)
A=0.027014/135 (1000Genomes)
A=0.044218/52 (HapMap)
G=0.5/7 (SGDP_PRJ)
HGVS:: NC_000006.12:g.53294435G>A, NC_000006.11:g.53159233G>A, NG_034263.1:g.59745C>T, NM_001242831.2:c.115C>T, NM_001242831.1:c.115C>T

Select item 1252397319.

rs12523973 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 6:53295435 (GRCh38)
6:53160233 (GRCh37)
Canonical SPDI:: NC_000006.12:53295434:T:A,NC_000006.12:53295434:T:C,NC_000006.12:53295434:T:G
Gene:: ELOVL5 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.007704/134 (ALFA)
A=0.01002/10 (GoNL)
A=0.025893/116 (Estonian)
A=0.026667/16 (NorthernSweden)
A=0.040373/13 (HapMap)
A=0.04843/12819 (TOPMED)
A=0.055016/204 (TWINSUK)
A=0.065428/328 (1000Genomes)
A=0.069798/269 (ALSPAC)
A=0.079439/17 (Vietnamese)
A=0.092833/272 (KOREAN)
A=0.095902/1607 (TOMMO)
A=0.1/4 (GENOME_DK)
A=0.104258/191 (Korea1K)
A=0.111111/24 (Qatari)
T=0.45122/37 (SGDP_PRJ)
T=0.5/2 (Siberian)
HGVS:: NC_000006.12:g.53295435T>A, NC_000006.12:g.53295435T>C, NC_000006.12:g.53295435T>G, NC_000006.11:g.53160233T>A, NC_000006.11:g.53160233T>C, NC_000006.11:g.53160233T>G, NG_034263.1:g.58745A>T, NG_034263.1:g.58745A>G, NG_034263.1:g.58745A>C

Select item 3518996620.

rs35189966 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA [Show Flanks]
Chromosome:: 6:53273416 (GRCh38)
6:53138214 (GRCh37)
Canonical SPDI:: NC_000006.12:53273405:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:53273405:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:53273405:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:53273405:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:53273405:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA
Gene:: ELOVL5 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Clinical significance:: benign,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.353333/212 (NorthernSweden)
-=0.362481/1397 (ALSPAC)
-=0.366235/1358 (TWINSUK)
A=0.477835/2393 (1000Genomes)
-=0.485553/128521 (TOPMED)
A=0.5/20 (GENOME_DK)
HGVS:: NC_000006.12:g.53273416_53273419del, NC_000006.12:g.53273417_53273419del, NC_000006.12:g.53273418_53273419del, NC_000006.12:g.53273419del, NC_000006.12:g.53273419dup, NC_000006.11:g.53138214_53138217del, NC_000006.11:g.53138215_53138217del, NC_000006.11:g.53138216_53138217del, NC_000006.11:g.53138217del, NC_000006.11:g.53138217dup, NG_034263.1:g.80771_80774del, NG_034263.1:g.80772_80774del, NG_034263.1:g.80773_80774del, NG_034263.1:g.80774del, NG_034263.1:g.80774dup

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