SNP Links for Gene (Select 54583) - SNP

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Select item 14915732701.

rs1491573270 has merged into rs371155853 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 1:231366497 (GRCh38)
1:231502243 (GRCh37)
Canonical SPDI:: NC_000001.11:231366484:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:231366484:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:231366484:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:231366484:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: EGLN1 (Varview), LOC107985360 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Clinical significance:: uncertain-significance,benign
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0.00117/32 (ALFA)
A=0.02498/122 (1000Genomes)
A=0.05033/843 (TOMMO)
HGVS:: NC_000001.11:g.231366497_231366498del, NC_000001.11:g.231366498del, NC_000001.11:g.231366498dup, NC_000001.11:g.231366497_231366498dup, NC_000001.10:g.231502243_231502244del, NC_000001.10:g.231502244del, NC_000001.10:g.231502244dup, NC_000001.10:g.231502243_231502244dup, NG_015865.1:g.63559_63560del, NG_015865.1:g.63560del, NG_015865.1:g.63560dup, NG_015865.1:g.63559_63560dup

Select item 14915452032.

rs1491545203 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TT [Show Flanks]
Chromosome:: 1:231373670 (GRCh38)
1:231509417 (GRCh37)
Canonical SPDI:: NC_000001.11:231373670:T:TTT
Gene:: EGLN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTT=0.00008/1 (ALFA)
TT=0.00064/4 (GnomAD)
HGVS:: NC_000001.11:g.231373671_231373672insTT, NC_000001.10:g.231509417_231509418insTT, NG_015865.1:g.56374_56375insAA

Select item 14915439073.

rs1491543907 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 1:231398753 (GRCh38)
1:231534499 (GRCh37)
Canonical SPDI:: NC_000001.11:231398752:GA:
Gene:: EGLN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.231398753_231398754del, NC_000001.10:g.231534499_231534500del, NG_015865.1:g.31291_31292del

Select item 14915395354.

rs1491539535 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:231366670 (GRCh38)
1:231502417 (GRCh37)
Canonical SPDI:: NC_000001.11:231366670:C:CC
Gene:: EGLN1 (Varview), LOC107985360 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0.000071/1 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000045/12 (TOPMED)
HGVS:: NC_000001.11:g.231366671dup, NC_000001.10:g.231502417dup, NG_015865.1:g.63374dup

Select item 14914457765.

rs1491445776 has merged into rs200514348 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCC>-,CC,CCCCC [Show Flanks]
Chromosome:: 1:231387258 (GRCh38)
1:231523004 (GRCh37)
Canonical SPDI:: NC_000001.11:231387255:CCCCCC:CC,NC_000001.11:231387255:CCCCCC:CCCC,NC_000001.11:231387255:CCCCCC:CCCCCCC
Gene:: EGLN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.00081/14 (TOMMO)
-=0.0139/89 (1000Genomes)
HGVS:: NC_000001.11:g.231387258_231387261del, NC_000001.11:g.231387260_231387261del, NC_000001.11:g.231387261dup, NC_000001.10:g.231523004_231523007del, NC_000001.10:g.231523006_231523007del, NC_000001.10:g.231523007dup, NG_015865.1:g.42786_42789del, NG_015865.1:g.42788_42789del, NG_015865.1:g.42789dup

Select item 14914206456.

rs1491420645 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 1:231391082 (GRCh38)
1:231526829 (GRCh37)
Canonical SPDI:: NC_000001.11:231391082:G:GG
Gene:: EGLN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.00004/1 (TOMMO)
G=0.00005/3 (GnomAD)
HGVS:: NC_000001.11:g.231391083dup, NC_000001.10:g.231526829dup, NG_015865.1:g.38962dup

Select item 14913990527.

rs1491399052 has merged into rs111257907 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:231391086 (GRCh38)
1:231526832 (GRCh37)
Canonical SPDI:: NC_000001.11:231391083:TTTTTTTTTT:TT,NC_000001.11:231391083:TTTTTTTTTT:TTT,NC_000001.11:231391083:TTTTTTTTTT:TTTT,NC_000001.11:231391083:TTTTTTTTTT:TTTTT,NC_000001.11:231391083:TTTTTTTTTT:TTTTTT,NC_000001.11:231391083:TTTTTTTTTT:TTTTTTT,NC_000001.11:231391083:TTTTTTTTTT:TTTTTTTT,NC_000001.11:231391083:TTTTTTTTTT:TTTTTTTTT,NC_000001.11:231391083:TTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:231391083:TTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:231391083:TTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:231391083:TTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:231391083:TTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:231391083:TTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:231391083:TTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:231391083:TTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:231391083:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
Gene:: EGLN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
HGVS:: NC_000001.11:g.231391086_231391093del, NC_000001.11:g.231391087_231391093del, NC_000001.11:g.231391088_231391093del, NC_000001.11:g.231391089_231391093del, NC_000001.11:g.231391090_231391093del, NC_000001.11:g.231391091_231391093del, NC_000001.11:g.231391092_231391093del, NC_000001.11:g.231391093del, NC_000001.11:g.231391093dup, NC_000001.11:g.231391092_231391093dup, NC_000001.11:g.231391091_231391093dup, NC_000001.11:g.231391090_231391093dup, NC_000001.11:g.231391089_231391093dup, NC_000001.11:g.231391088_231391093dup, NC_000001.11:g.231391087_231391093dup, NC_000001.11:g.231391086_231391093dup, NC_000001.11:g.231391084_231391093dup, NC_000001.10:g.231526832_231526839del, NC_000001.10:g.231526833_231526839del, NC_000001.10:g.231526834_231526839del, NC_000001.10:g.231526835_231526839del, NC_000001.10:g.231526836_231526839del, NC_000001.10:g.231526837_231526839del, NC_000001.10:g.231526838_231526839del, NC_000001.10:g.231526839del, NC_000001.10:g.231526839dup, NC_000001.10:g.231526838_231526839dup, NC_000001.10:g.231526837_231526839dup, NC_000001.10:g.231526836_231526839dup, NC_000001.10:g.231526835_231526839dup, NC_000001.10:g.231526834_231526839dup, NC_000001.10:g.231526833_231526839dup, NC_000001.10:g.231526832_231526839dup, NC_000001.10:g.231526830_231526839dup, NG_015865.1:g.38954_38961del, NG_015865.1:g.38955_38961del, NG_015865.1:g.38956_38961del, NG_015865.1:g.38957_38961del, NG_015865.1:g.38958_38961del, NG_015865.1:g.38959_38961del, NG_015865.1:g.38960_38961del, NG_015865.1:g.38961del, NG_015865.1:g.38961dup, NG_015865.1:g.38960_38961dup, NG_015865.1:g.38959_38961dup, NG_015865.1:g.38958_38961dup, NG_015865.1:g.38957_38961dup, NG_015865.1:g.38956_38961dup, NG_015865.1:g.38955_38961dup, NG_015865.1:g.38954_38961dup, NG_015865.1:g.38952_38961dup

Select item 14913191198.

rs1491319119 has merged into rs150455754 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTG>-,TG,TGTGTG [Show Flanks]
Chromosome:: 1:231373673 (GRCh38)
1:231509419 (GRCh37)
Canonical SPDI:: NC_000001.11:231373669:GTGTGTG:GTG,NC_000001.11:231373669:GTGTGTG:GTGTG,NC_000001.11:231373669:GTGTGTG:GTGTGTGTG
Gene:: EGLN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTG=0./0 (ALFA)
-=0.00007/2 (TOMMO)
GT=0.2836/1093 (ALSPAC)
GT=0.2972/1102 (TWINSUK)
HGVS:: NC_000001.11:g.231373671TG[1], NC_000001.11:g.231373671TG[2], NC_000001.11:g.231373671TG[4], NC_000001.10:g.231509417TG[1], NC_000001.10:g.231509417TG[2], NC_000001.10:g.231509417TG[4], NG_015865.1:g.56370AC[1], NG_015865.1:g.56370AC[2], NG_015865.1:g.56370AC[4]

Select item 14912880849.

rs1491288084 has merged into rs60871560 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGT>-,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 1:231373690 (GRCh38)
1:231509436 (GRCh37)
Canonical SPDI:: NC_000001.11:231373677:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGT,NC_000001.11:231373677:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000001.11:231373677:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000001.11:231373677:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000001.11:231373677:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:231373677:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:231373677:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:231373677:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:231373677:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:231373677:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:231373677:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: EGLN1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGT=0./0 (ALFA)
-=0.0638/246 (ALSPAC)
-=0.375/15 (GENOME_DK)
HGVS:: NC_000001.11:g.231373678GT[6], NC_000001.11:g.231373678GT[8], NC_000001.11:g.231373678GT[9], NC_000001.11:g.231373678GT[10], NC_000001.11:g.231373678GT[11], NC_000001.11:g.231373678GT[12], NC_000001.11:g.231373678GT[14], NC_000001.11:g.231373678GT[15], NC_000001.11:g.231373678GT[16], NC_000001.11:g.231373678GT[17], NC_000001.11:g.231373678GT[22], NC_000001.10:g.231509424GT[6], NC_000001.10:g.231509424GT[8], NC_000001.10:g.231509424GT[9], NC_000001.10:g.231509424GT[10], NC_000001.10:g.231509424GT[11], NC_000001.10:g.231509424GT[12], NC_000001.10:g.231509424GT[14], NC_000001.10:g.231509424GT[15], NC_000001.10:g.231509424GT[16], NC_000001.10:g.231509424GT[17], NC_000001.10:g.231509424GT[22], NG_015865.1:g.56342AC[6], NG_015865.1:g.56342AC[8], NG_015865.1:g.56342AC[9], NG_015865.1:g.56342AC[10], NG_015865.1:g.56342AC[11], NG_015865.1:g.56342AC[12], NG_015865.1:g.56342AC[14], NG_015865.1:g.56342AC[15], NG_015865.1:g.56342AC[16], NG_015865.1:g.56342AC[17], NG_015865.1:g.56342AC[22]

Select item 149128706410.

rs1491287064 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:231366498 (GRCh38)
1:231502244 (GRCh37)
Canonical SPDI:: NC_000001.11:231366497:AT:
Gene:: EGLN1 (Varview), LOC107985360 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.000029/4 (GnomAD)
-=0.000248/4 (TOMMO)
-=0.000599/3 (1000Genomes)
-=0.00607/677 (ExAC)
-=0.46077/5767 (GoESP)
HGVS:: NC_000001.11:g.231366498_231366499del, NC_000001.10:g.231502244_231502245del, NG_015865.1:g.63546_63547del

Select item 149116360611.

rs1491163606 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 1:231391084 (GRCh38)
1:231526831 (GRCh37)
Canonical SPDI:: NC_000001.11:231391084:T:TGT,NC_000001.11:231391084:T:TGTGT,NC_000001.11:231391084:T:TGTGTGT,NC_000001.11:231391084:T:TGTGTGTGT,NC_000001.11:231391084:T:TGTGTGTGTGT,NC_000001.11:231391084:T:TGTGTGTGTGTGTGTGTGT
Gene:: EGLN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGTGT=0./0 (ALFA)
HGVS:: NC_000001.11:g.231391085_231391086insGT, NC_000001.11:g.231391085_231391086insGTGT, NC_000001.11:g.231391086GT[3], NC_000001.11:g.231391086GT[4], NC_000001.11:g.231391086GT[5], NC_000001.11:g.231391086GT[9], NC_000001.10:g.231526831_231526832insGT, NC_000001.10:g.231526831_231526832insGTGT, NC_000001.10:g.231526832GT[3], NC_000001.10:g.231526832GT[4], NC_000001.10:g.231526832GT[5], NC_000001.10:g.231526832GT[9], NG_015865.1:g.38960_38961insCA, NG_015865.1:g.38960_38961insCACA, NG_015865.1:g.38961CA[3], NG_015865.1:g.38961CA[4], NG_015865.1:g.38961CA[5], NG_015865.1:g.38961CA[9]

Select item 149116305612.

rs1491163056 has merged into rs758944944 [Homo sapiens]

Variant type:: DELINS
Alleles:: CG>- [Show Flanks]
Chromosome:: 1:231373677 (GRCh38)
1:231509423 (GRCh37)
Canonical SPDI:: NC_000001.11:231373675:GCG:G
Gene:: EGLN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.19047/3110 (ALFA)
GC=0.284281/170 (NorthernSweden)
GC=0.338621/38384 (GnomAD)
GC=0.389376/711 (Korea1K)
CG=0.393204/1458 (TWINSUK)
GC=0.4461/7419 (TOMMO)
-=0.48782/3124 (1000Genomes)
HGVS:: NC_000001.11:g.231373677_231373678del, NC_000001.10:g.231509423_231509424del, NG_015865.1:g.56368_56369del

Select item 149112251313.

rs1491122513 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:231416436 (GRCh38)
1:231552182 (GRCh37)
Canonical SPDI:: NC_000001.11:231416435:AT:
Gene:: EGLN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.231416436_231416437del, NC_000001.10:g.231552182_231552183del, NG_015865.1:g.13608_13609del

Select item 149112000614.

rs1491120006 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 1:231391083 (GRCh38)
1:231526829 (GRCh37)
Canonical SPDI:: NC_000001.11:231391081:TGT:T
Gene:: EGLN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.231391083_231391084del, NC_000001.10:g.231526829_231526830del, NG_015865.1:g.38962_38963del

Select item 149108529615.

rs1491085296 has merged into rs533934018 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>- [Show Flanks]
Chromosome:: 1:231398780 (GRCh38)
1:231534526 (GRCh37)
Canonical SPDI:: NC_000001.11:231398778:GGG:G
Gene:: EGLN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.00231/324 (GnomAD)
-=0.002498/16 (1000Genomes)
HGVS:: NC_000001.11:g.231398780_231398781del, NC_000001.10:g.231534526_231534527del, NG_015865.1:g.31265_31266del

Select item 149108054316.

rs1491080543 has merged into rs35280417 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:231380325 (GRCh38)
1:231516071 (GRCh37)
Canonical SPDI:: NC_000001.11:231380315:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:231380315:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:231380315:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:231380315:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:231380315:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:231380315:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:231380315:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:231380315:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:231380315:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:231380315:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:231380315:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:231380315:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:231380315:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:231380315:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:231380315:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:231380315:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:231380315:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:231380315:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:231380315:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:231380315:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:231380315:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:231380315:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: EGLN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.231380325_231380335del, NC_000001.11:g.231380326_231380335del, NC_000001.11:g.231380327_231380335del, NC_000001.11:g.231380328_231380335del, NC_000001.11:g.231380329_231380335del, NC_000001.11:g.231380330_231380335del, NC_000001.11:g.231380331_231380335del, NC_000001.11:g.231380332_231380335del, NC_000001.11:g.231380333_231380335del, NC_000001.11:g.231380334_231380335del, NC_000001.11:g.231380335del, NC_000001.11:g.231380335dup, NC_000001.11:g.231380334_231380335dup, NC_000001.11:g.231380333_231380335dup, NC_000001.11:g.231380332_231380335dup, NC_000001.11:g.231380331_231380335dup, NC_000001.11:g.231380330_231380335dup, NC_000001.11:g.231380329_231380335dup, NC_000001.11:g.231380328_231380335dup, NC_000001.11:g.231380327_231380335dup, NC_000001.11:g.231380326_231380335dup, NC_000001.11:g.231380335_231380336insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.231516071_231516081del, NC_000001.10:g.231516072_231516081del, NC_000001.10:g.231516073_231516081del, NC_000001.10:g.231516074_231516081del, NC_000001.10:g.231516075_231516081del, NC_000001.10:g.231516076_231516081del, NC_000001.10:g.231516077_231516081del, NC_000001.10:g.231516078_231516081del, NC_000001.10:g.231516079_231516081del, NC_000001.10:g.231516080_231516081del, NC_000001.10:g.231516081del, NC_000001.10:g.231516081dup, NC_000001.10:g.231516080_231516081dup, NC_000001.10:g.231516079_231516081dup, NC_000001.10:g.231516078_231516081dup, NC_000001.10:g.231516077_231516081dup, NC_000001.10:g.231516076_231516081dup, NC_000001.10:g.231516075_231516081dup, NC_000001.10:g.231516074_231516081dup, NC_000001.10:g.231516073_231516081dup, NC_000001.10:g.231516072_231516081dup, NC_000001.10:g.231516081_231516082insAAAAAAAAAAAAAAAAAAAAAAAAA, NG_015865.1:g.49719_49729del, NG_015865.1:g.49720_49729del, NG_015865.1:g.49721_49729del, NG_015865.1:g.49722_49729del, NG_015865.1:g.49723_49729del, NG_015865.1:g.49724_49729del, NG_015865.1:g.49725_49729del, NG_015865.1:g.49726_49729del, NG_015865.1:g.49727_49729del, NG_015865.1:g.49728_49729del, NG_015865.1:g.49729del, NG_015865.1:g.49729dup, NG_015865.1:g.49728_49729dup, NG_015865.1:g.49727_49729dup, NG_015865.1:g.49726_49729dup, NG_015865.1:g.49725_49729dup, NG_015865.1:g.49724_49729dup, NG_015865.1:g.49723_49729dup, NG_015865.1:g.49722_49729dup, NG_015865.1:g.49721_49729dup, NG_015865.1:g.49720_49729dup, NG_015865.1:g.49729_49730insTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149107368417.

rs1491073684 has merged into rs5781642 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
Chromosome:: 1:231390865 (GRCh38)
1:231526611 (GRCh37)
Canonical SPDI:: NC_000001.11:231390853:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:231390853:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:231390853:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:231390853:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:231390853:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
Gene:: EGLN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.4/16 (GENOME_DK)
T=0.462301/2146 (1000Genomes)
T=0.467505/123744 (TOPMED)
HGVS:: NC_000001.11:g.231390865_231390867del, NC_000001.11:g.231390866_231390867del, NC_000001.11:g.231390867del, NC_000001.11:g.231390867dup, NC_000001.11:g.231390866_231390867dup, NC_000001.10:g.231526611_231526613del, NC_000001.10:g.231526612_231526613del, NC_000001.10:g.231526613del, NC_000001.10:g.231526613dup, NC_000001.10:g.231526612_231526613dup, NG_015865.1:g.39189_39191del, NG_015865.1:g.39190_39191del, NG_015865.1:g.39191del, NG_015865.1:g.39191dup, NG_015865.1:g.39190_39191dup

Select item 149105124618.

rs1491051246 has merged into rs57402041 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:231374534 (GRCh38)
1:231510280 (GRCh37)
Canonical SPDI:: NC_000001.11:231374521:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:231374521:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:231374521:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:231374521:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:231374521:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:231374521:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: EGLN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.33502/199 (NorthernSweden)
-=0.44481/7455 (TOMMO)
-=0.45/18 (GENOME_DK)
T=0.46645/2336 (1000Genomes)
HGVS:: NC_000001.11:g.231374534_231374535del, NC_000001.11:g.231374535del, NC_000001.11:g.231374535dup, NC_000001.11:g.231374534_231374535dup, NC_000001.11:g.231374533_231374535dup, NC_000001.11:g.231374526_231374535dup, NC_000001.10:g.231510280_231510281del, NC_000001.10:g.231510281del, NC_000001.10:g.231510281dup, NC_000001.10:g.231510280_231510281dup, NC_000001.10:g.231510279_231510281dup, NC_000001.10:g.231510272_231510281dup, NG_015865.1:g.55522_55523del, NG_015865.1:g.55523del, NG_015865.1:g.55523dup, NG_015865.1:g.55522_55523dup, NG_015865.1:g.55521_55523dup, NG_015865.1:g.55514_55523dup

Select item 149104233419.

rs1491042334 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 1:231396039 (GRCh38)
1:231531785 (GRCh37)
Canonical SPDI:: NC_000001.11:231396037:AGA:A
Gene:: EGLN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.000142/2 (TOMMO)
-=0.000151/21 (GnomAD)
HGVS:: NC_000001.11:g.231396039_231396040del, NC_000001.10:g.231531785_231531786del, NG_015865.1:g.34006_34007del

Select item 149101308620.

rs1491013086 has merged into rs1553351045 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT [Show Flanks]
Chromosome:: 1:231380474 (GRCh38)
1:231516220 (GRCh37)
Canonical SPDI:: NC_000001.11:231380464:TATATATATAT:TATATATAT,NC_000001.11:231380464:TATATATATAT:TATATATATATAT
Gene:: EGLN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATAT=0./0 (ALFA)
HGVS:: NC_000001.11:g.231380466AT[4], NC_000001.11:g.231380466AT[6], NC_000001.10:g.231516212AT[4], NC_000001.10:g.231516212AT[6], NG_015865.1:g.49571TA[4], NG_015865.1:g.49571TA[6]

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