SNP Links for Gene (Select 57535) - SNP

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Select item 14914808841.

rs1491480884 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:109183328 (GRCh38)
1:109725950 (GRCh37)
Canonical SPDI:: NC_000001.11:109183327:CA:
Gene:: ELAPOR1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.0027/32 (ALFA)
HGVS:: NC_000001.11:g.109183328_109183329del, NC_000001.10:g.109725950_109725951del, NG_032763.1:g.74366_74367del

Select item 14914622152.

rs1491462215 has merged into rs5776967 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGT>-,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 1:109197703 (GRCh38)
1:109740325 (GRCh37)
Canonical SPDI:: NC_000001.11:109197688:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000001.11:109197688:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000001.11:109197688:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000001.11:109197688:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:109197688:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:109197688:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:109197688:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:109197688:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:109197688:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:109197688:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:109197688:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: ELAPOR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGTGT=0./0 (ALFA)
GT=0.02428/407 (TOMMO)
HGVS:: NC_000001.11:g.109197689GT[7], NC_000001.11:g.109197689GT[9], NC_000001.11:g.109197689GT[10], NC_000001.11:g.109197689GT[11], NC_000001.11:g.109197689GT[12], NC_000001.11:g.109197689GT[14], NC_000001.11:g.109197689GT[15], NC_000001.11:g.109197689GT[16], NC_000001.11:g.109197689GT[17], NC_000001.11:g.109197689GT[18], NC_000001.11:g.109197689GT[19], NC_000001.10:g.109740311GT[7], NC_000001.10:g.109740311GT[9], NC_000001.10:g.109740311GT[10], NC_000001.10:g.109740311GT[11], NC_000001.10:g.109740311GT[12], NC_000001.10:g.109740311GT[14], NC_000001.10:g.109740311GT[15], NC_000001.10:g.109740311GT[16], NC_000001.10:g.109740311GT[17], NC_000001.10:g.109740311GT[18], NC_000001.10:g.109740311GT[19], NG_032763.1:g.88727GT[7], NG_032763.1:g.88727GT[9], NG_032763.1:g.88727GT[10], NG_032763.1:g.88727GT[11], NG_032763.1:g.88727GT[12], NG_032763.1:g.88727GT[14], NG_032763.1:g.88727GT[15], NG_032763.1:g.88727GT[16], NG_032763.1:g.88727GT[17], NG_032763.1:g.88727GT[18], NG_032763.1:g.88727GT[19], NG_082144.1:g.453GT[7], NG_082144.1:g.453GT[9], NG_082144.1:g.453GT[10], NG_082144.1:g.453GT[11], NG_082144.1:g.453GT[12], NG_082144.1:g.453GT[14], NG_082144.1:g.453GT[15], NG_082144.1:g.453GT[16], NG_082144.1:g.453GT[17], NG_082144.1:g.453GT[18], NG_082144.1:g.453GT[19]

Select item 14914029233.

rs1491402923 has merged into rs869275387 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:109144055 (GRCh38)
1:109686677 (GRCh37)
Canonical SPDI:: NC_000001.11:109144053:TTT:T,NC_000001.11:109144053:TTT:TT,NC_000001.11:109144053:TTT:TTTT,NC_000001.11:109144053:TTT:TTTTT,NC_000001.11:109144053:TTT:TTTTTT,NC_000001.11:109144053:TTT:TTTTTTT,NC_000001.11:109144053:TTT:TTTTTTTT,NC_000001.11:109144053:TTT:TTTTTTTTT,NC_000001.11:109144053:TTT:TTTTTTTTTT,NC_000001.11:109144053:TTT:TTTTTTTTTTT,NC_000001.11:109144053:TTT:TTTTTTTTTTTT,NC_000001.11:109144053:TTT:TTTTTTTTTTTTT,NC_000001.11:109144053:TTT:TTTTTTTTTTTTTTT
Gene:: ELAPOR1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0./0 (ALFA)
-=0.40081/6282 (TOMMO)
HGVS:: NC_000001.11:g.109144055_109144056del, NC_000001.11:g.109144056del, NC_000001.11:g.109144056dup, NC_000001.11:g.109144055_109144056dup, NC_000001.11:g.109144054_109144056dup, NC_000001.11:g.109144056_109144057insTTTT, NC_000001.11:g.109144056_109144057insTTTTT, NC_000001.11:g.109144056_109144057insTTTTTT, NC_000001.11:g.109144056_109144057insTTTTTTT, NC_000001.11:g.109144056_109144057insTTTTTTTT, NC_000001.11:g.109144056_109144057insTTTTTTTTT, NC_000001.11:g.109144056_109144057insTTTTTTTTTT, NC_000001.11:g.109144056_109144057insTTTTTTTTTTTT, NC_000001.10:g.109686677_109686678del, NC_000001.10:g.109686678del, NC_000001.10:g.109686678dup, NC_000001.10:g.109686677_109686678dup, NC_000001.10:g.109686676_109686678dup, NC_000001.10:g.109686678_109686679insTTTT, NC_000001.10:g.109686678_109686679insTTTTT, NC_000001.10:g.109686678_109686679insTTTTTT, NC_000001.10:g.109686678_109686679insTTTTTTT, NC_000001.10:g.109686678_109686679insTTTTTTTT, NC_000001.10:g.109686678_109686679insTTTTTTTTT, NC_000001.10:g.109686678_109686679insTTTTTTTTTT, NC_000001.10:g.109686678_109686679insTTTTTTTTTTTT, NG_032763.1:g.35093_35094del, NG_032763.1:g.35094del, NG_032763.1:g.35094dup, NG_032763.1:g.35093_35094dup, NG_032763.1:g.35092_35094dup, NG_032763.1:g.35094_35095insTTTT, NG_032763.1:g.35094_35095insTTTTT, NG_032763.1:g.35094_35095insTTTTTT, NG_032763.1:g.35094_35095insTTTTTTT, NG_032763.1:g.35094_35095insTTTTTTTT, NG_032763.1:g.35094_35095insTTTTTTTTT, NG_032763.1:g.35094_35095insTTTTTTTTTT, NG_032763.1:g.35094_35095insTTTTTTTTTTTT

Select item 14913729964.

rs1491372996 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 1:109183576 (GRCh38)
1:109726198 (GRCh37)
Canonical SPDI:: NC_000001.11:109183575:CC:
Gene:: ELAPOR1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
HGVS:: NC_000001.11:g.109183576_109183577del, NC_000001.10:g.109726198_109726199del, NG_032763.1:g.74614_74615del

Select item 14913543685.

rs1491354368 has merged into rs1553251774 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ATA,ATATA,ATATATATA [Show Flanks]
Chromosome:: 1:109144054 (GRCh38)
1:109686677 (GRCh37)
Canonical SPDI:: NC_000001.11:109144054::A,NC_000001.11:109144054::ATA,NC_000001.11:109144054::ATATA,NC_000001.11:109144054::ATATATATA
Gene:: ELAPOR1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
A=0.00542/3 (NorthernSweden)
A=0.00954/147 (TOMMO)
HGVS:: NC_000001.11:g.109144054_109144055insA, NC_000001.11:g.109144054_109144055insATA, NC_000001.11:g.109144054_109144055insATATA, NC_000001.11:g.109144054_109144055insATATATATA, NC_000001.10:g.109686676_109686677insA, NC_000001.10:g.109686676_109686677insATA, NC_000001.10:g.109686676_109686677insATATA, NC_000001.10:g.109686676_109686677insATATATATA, NG_032763.1:g.35092_35093insA, NG_032763.1:g.35092_35093insATA, NG_032763.1:g.35092_35093insATATA, NG_032763.1:g.35092_35093insATATATATA

Select item 14913281816.

rs1491328181 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGAGAAAGAG,AGATAGAG [Show Flanks]
Chromosome:: 1:109197685 (GRCh38)
1:109740308 (GRCh37)
Canonical SPDI:: NC_000001.11:109197685:AGAG:AGAGAGAGAAAGAG,NC_000001.11:109197685:AGAG:AGAGAGATAGAG
Gene:: ELAPOR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAAAGAG=0./0 (ALFA)
AGAGAGAGAA=0.000019/2 (GnomAD)
HGVS:: NC_000001.11:g.109197686_109197689AG[4]AAAGAG[1], NC_000001.11:g.109197686_109197689AG[3]ATAGAG[1], NC_000001.10:g.109740308_109740311AG[4]AAAGAG[1], NC_000001.10:g.109740308_109740311AG[3]ATAGAG[1], NG_032763.1:g.88724_88727AG[4]AAAGAG[1], NG_032763.1:g.88724_88727AG[3]ATAGAG[1], NG_082144.1:g.450_453AG[4]AAAGAG[1], NG_082144.1:g.450_453AG[3]ATAGAG[1]

Select item 14913256357.

rs1491325635 has merged into rs67807553 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:109183338 (GRCh38)
1:109725960 (GRCh37)
Canonical SPDI:: NC_000001.11:109183328:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:109183328:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:109183328:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:109183328:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:109183328:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:109183328:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:109183328:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:109183328:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:109183328:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:109183328:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:109183328:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:109183328:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:109183328:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:109183328:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:109183328:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:109183328:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ELAPOR1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.00181/23 (TOMMO)
-=0.0022/2 (Korea1K)
-=0.04942/17 (NorthernSweden)
HGVS:: NC_000001.11:g.109183338_109183348del, NC_000001.11:g.109183342_109183348del, NC_000001.11:g.109183344_109183348del, NC_000001.11:g.109183345_109183348del, NC_000001.11:g.109183346_109183348del, NC_000001.11:g.109183347_109183348del, NC_000001.11:g.109183348del, NC_000001.11:g.109183348dup, NC_000001.11:g.109183347_109183348dup, NC_000001.11:g.109183346_109183348dup, NC_000001.11:g.109183345_109183348dup, NC_000001.11:g.109183344_109183348dup, NC_000001.11:g.109183343_109183348dup, NC_000001.11:g.109183342_109183348dup, NC_000001.11:g.109183341_109183348dup, NC_000001.11:g.109183340_109183348dup, NC_000001.10:g.109725960_109725970del, NC_000001.10:g.109725964_109725970del, NC_000001.10:g.109725966_109725970del, NC_000001.10:g.109725967_109725970del, NC_000001.10:g.109725968_109725970del, NC_000001.10:g.109725969_109725970del, NC_000001.10:g.109725970del, NC_000001.10:g.109725970dup, NC_000001.10:g.109725969_109725970dup, NC_000001.10:g.109725968_109725970dup, NC_000001.10:g.109725967_109725970dup, NC_000001.10:g.109725966_109725970dup, NC_000001.10:g.109725965_109725970dup, NC_000001.10:g.109725964_109725970dup, NC_000001.10:g.109725963_109725970dup, NC_000001.10:g.109725962_109725970dup, NG_032763.1:g.74376_74386del, NG_032763.1:g.74380_74386del, NG_032763.1:g.74382_74386del, NG_032763.1:g.74383_74386del, NG_032763.1:g.74384_74386del, NG_032763.1:g.74385_74386del, NG_032763.1:g.74386del, NG_032763.1:g.74386dup, NG_032763.1:g.74385_74386dup, NG_032763.1:g.74384_74386dup, NG_032763.1:g.74383_74386dup, NG_032763.1:g.74382_74386dup, NG_032763.1:g.74381_74386dup, NG_032763.1:g.74380_74386dup, NG_032763.1:g.74379_74386dup, NG_032763.1:g.74378_74386dup

Select item 14912711208.

rs1491271120 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 1:109122073 (GRCh38)
1:109664696 (GRCh37)
Canonical SPDI:: NC_000001.11:109122073::G
Gene:: ELAPOR1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.109122073_109122074insG, NC_000001.10:g.109664695_109664696insG, NG_032763.1:g.13111_13112insG

Select item 14912190679.

rs1491219067 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 1:109183580 (GRCh38)
1:109726202 (GRCh37)
Canonical SPDI:: NC_000001.11:109183579:CC:
Gene:: ELAPOR1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.00018/9 (GnomAD)
-=0.00057/15 (TOMMO)
HGVS:: NC_000001.11:g.109183580_109183581del, NC_000001.10:g.109726202_109726203del, NG_032763.1:g.74618_74619del

Select item 149121550610.

rs1491215506 has merged into rs61317397 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:109178021 (GRCh38)
1:109720643 (GRCh37)
Canonical SPDI:: NC_000001.11:109178011:TTTTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:109178011:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:109178011:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:109178011:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:109178011:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:109178011:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:109178011:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:109178011:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:109178011:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:109178011:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:109178011:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:109178011:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:109178011:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:109178011:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ELAPOR1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.109178021_109178026del, NC_000001.11:g.109178022_109178026del, NC_000001.11:g.109178023_109178026del, NC_000001.11:g.109178024_109178026del, NC_000001.11:g.109178025_109178026del, NC_000001.11:g.109178026del, NC_000001.11:g.109178026dup, NC_000001.11:g.109178025_109178026dup, NC_000001.11:g.109178024_109178026dup, NC_000001.11:g.109178023_109178026dup, NC_000001.11:g.109178022_109178026dup, NC_000001.11:g.109178021_109178026dup, NC_000001.11:g.109178016_109178026dup, NC_000001.11:g.109178014_109178026dup, NC_000001.10:g.109720643_109720648del, NC_000001.10:g.109720644_109720648del, NC_000001.10:g.109720645_109720648del, NC_000001.10:g.109720646_109720648del, NC_000001.10:g.109720647_109720648del, NC_000001.10:g.109720648del, NC_000001.10:g.109720648dup, NC_000001.10:g.109720647_109720648dup, NC_000001.10:g.109720646_109720648dup, NC_000001.10:g.109720645_109720648dup, NC_000001.10:g.109720644_109720648dup, NC_000001.10:g.109720643_109720648dup, NC_000001.10:g.109720638_109720648dup, NC_000001.10:g.109720636_109720648dup, NG_032763.1:g.69059_69064del, NG_032763.1:g.69060_69064del, NG_032763.1:g.69061_69064del, NG_032763.1:g.69062_69064del, NG_032763.1:g.69063_69064del, NG_032763.1:g.69064del, NG_032763.1:g.69064dup, NG_032763.1:g.69063_69064dup, NG_032763.1:g.69062_69064dup, NG_032763.1:g.69061_69064dup, NG_032763.1:g.69060_69064dup, NG_032763.1:g.69059_69064dup, NG_032763.1:g.69054_69064dup, NG_032763.1:g.69052_69064dup

Select item 149119009111.

rs1491190091 has merged into rs150398954 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAACCTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAACAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:109138847 (GRCh38)
1:109681469 (GRCh37)
Canonical SPDI:: NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAA
Gene:: ELAPOR1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
A=0.3482/1744 (1000Genomes)
HGVS:: NC_000001.11:g.109138847_109138851del, NC_000001.11:g.109138848_109138851del, NC_000001.11:g.109138849_109138851del, NC_000001.11:g.109138850_109138851del, NC_000001.11:g.109138851del, NC_000001.11:g.109138851dup, NC_000001.11:g.109138850_109138851dup, NC_000001.11:g.109138849_109138851dup, NC_000001.11:g.109138848_109138851dup, NC_000001.11:g.109138847_109138851dup, NC_000001.11:g.109138846_109138851dup, NC_000001.11:g.109138845_109138851dup, NC_000001.11:g.109138844_109138851dup, NC_000001.11:g.109138843_109138851dup, NC_000001.11:g.109138842_109138851dup, NC_000001.11:g.109138841_109138851dup, NC_000001.11:g.109138840_109138851dup, NC_000001.11:g.109138839_109138851dup, NC_000001.11:g.109138838_109138851dup, NC_000001.11:g.109138837_109138851dup, NC_000001.11:g.109138836_109138851dup, NC_000001.11:g.109138835_109138851dup, NC_000001.11:g.109138851_109138852insAAAAAAAAAAAAAAAAAA, NC_000001.11:g.109138851_109138852insAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.109138851_109138852insAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.109138851_109138852insAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.109138851_109138852insAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.109138851_109138852insAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.109138851_109138852insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.109138851_109138852insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.109138851_109138852insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.109138851_109138852insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.109138851_109138852insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.109138851_109138852insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.109138851_109138852insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.109138851_109138852insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.109138851_109138852insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.109138851_109138852insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.109138851_109138852insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.109138835_109138851A[39]CCTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.11:g.109138835_109138851A[18]CAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.109681469_109681473del, NC_000001.10:g.109681470_109681473del, NC_000001.10:g.109681471_109681473del, NC_000001.10:g.109681472_109681473del, NC_000001.10:g.109681473del, NC_000001.10:g.109681473dup, NC_000001.10:g.109681472_109681473dup, NC_000001.10:g.109681471_109681473dup, NC_000001.10:g.109681470_109681473dup, NC_000001.10:g.109681469_109681473dup, NC_000001.10:g.109681468_109681473dup, NC_000001.10:g.109681467_109681473dup, NC_000001.10:g.109681466_109681473dup, NC_000001.10:g.109681465_109681473dup, NC_000001.10:g.109681464_109681473dup, NC_000001.10:g.109681463_109681473dup, NC_000001.10:g.109681462_109681473dup, NC_000001.10:g.109681461_109681473dup, NC_000001.10:g.109681460_109681473dup, NC_000001.10:g.109681459_109681473dup, NC_000001.10:g.109681458_109681473dup, NC_000001.10:g.109681457_109681473dup, NC_000001.10:g.109681473_109681474insAAAAAAAAAAAAAAAAAA, NC_000001.10:g.109681473_109681474insAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.109681473_109681474insAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.109681473_109681474insAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.109681473_109681474insAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.109681473_109681474insAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.109681473_109681474insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.109681473_109681474insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.109681473_109681474insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.109681473_109681474insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.109681473_109681474insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.109681473_109681474insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.109681473_109681474insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.109681473_109681474insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.109681473_109681474insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.109681473_109681474insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.109681473_109681474insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.109681457_109681473A[39]CCTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.109681457_109681473A[18]CAAAAAAAAAAAAAAAAAAA[1], NG_032763.1:g.29885_29889del, NG_032763.1:g.29886_29889del, NG_032763.1:g.29887_29889del, NG_032763.1:g.29888_29889del, NG_032763.1:g.29889del, NG_032763.1:g.29889dup, NG_032763.1:g.29888_29889dup, NG_032763.1:g.29887_29889dup, NG_032763.1:g.29886_29889dup, NG_032763.1:g.29885_29889dup, NG_032763.1:g.29884_29889dup, NG_032763.1:g.29883_29889dup, NG_032763.1:g.29882_29889dup, NG_032763.1:g.29881_29889dup, NG_032763.1:g.29880_29889dup, NG_032763.1:g.29879_29889dup, NG_032763.1:g.29878_29889dup, NG_032763.1:g.29877_29889dup, NG_032763.1:g.29876_29889dup, NG_032763.1:g.29875_29889dup, NG_032763.1:g.29874_29889dup, NG_032763.1:g.29873_29889dup, NG_032763.1:g.29889_29890insAAAAAAAAAAAAAAAAAA, NG_032763.1:g.29889_29890insAAAAAAAAAAAAAAAAAAA, NG_032763.1:g.29889_29890insAAAAAAAAAAAAAAAAAAAA, NG_032763.1:g.29889_29890insAAAAAAAAAAAAAAAAAAAAA, NG_032763.1:g.29889_29890insAAAAAAAAAAAAAAAAAAAAAA, NG_032763.1:g.29889_29890insAAAAAAAAAAAAAAAAAAAAAAA, NG_032763.1:g.29889_29890insAAAAAAAAAAAAAAAAAAAAAAAA, NG_032763.1:g.29889_29890insAAAAAAAAAAAAAAAAAAAAAAAAA, NG_032763.1:g.29889_29890insAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_032763.1:g.29889_29890insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_032763.1:g.29889_29890insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_032763.1:g.29889_29890insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_032763.1:g.29889_29890insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_032763.1:g.29889_29890insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_032763.1:g.29889_29890insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_032763.1:g.29889_29890insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_032763.1:g.29889_29890insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_032763.1:g.29873_29889A[39]CCTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_032763.1:g.29873_29889A[18]CAAAAAAAAAAAAAAAAAAA[1]

Select item 149114971312.

rs1491149713 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:109203879 (GRCh38)
1:109746501 (GRCh37)
Canonical SPDI:: NC_000001.11:109203878:CA:
Gene:: ELAPOR1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.0032/38 (ALFA)
HGVS:: NC_000001.11:g.109203879_109203880del, NC_000001.10:g.109746501_109746502del, NG_032763.1:g.94917_94918del, NM_020775.5:c.*867_*868del, NM_020775.4:c.*867_*868del, NM_001284353.2:c.*867_*868del, NM_001284353.1:c.*867_*868del, NM_001284352.2:c.*925_*926del, NM_001284352.1:c.*925_*926del, NM_001267048.2:c.*867_*868del, NM_001267048.1:c.*867_*868del, XM_011541825.3:c.*925_*926del, XM_011541825.2:c.*925_*926del, XM_011541825.1:c.*925_*926del, XM_011541827.3:c.*867_*868del, XM_011541827.2:c.*867_*868del, XM_011541827.1:c.*867_*868del, NR_049773.1:n.4040_4041del, NR_049774.1:n.3990_3991del, XM_047426133.1:c.*867_*868del, NM_001267049.1:c.*867_*868del

Select item 149114275413.

rs1491142754 [Homo sapiens]

Variant type:: INS
Alleles:: ->GAAGGAGGAGGGAGGGAGAGGAAGGAAGGAAGAAGAGAAGA,TTCCTTT [Show Flanks]
Chromosome:: 1:109183588 (GRCh38)
1:109726211 (GRCh37)
Canonical SPDI:: NC_000001.11:109183588::GAAGGAGGAGGGAGGGAGAGGAAGGAAGGAAGAAGAGAAGA,NC_000001.11:109183588::TTCCTTT
Gene:: ELAPOR1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: TTCCTTT=0.007671/127 (TOMMO)
TTCCTTT=0.010428/19 (Korea1K)
TTCCTTT=0.014484/1512 (GnomAD)
HGVS:: NC_000001.11:g.109183588_109183589insGAAGGAGGAGGGAGGGAGAGGAAGGAAGGAAGAAGAGAAGA, NC_000001.11:g.109183588_109183589insTTCCTTT, NC_000001.10:g.109726210_109726211insGAAGGAGGAGGGAGGGAGAGGAAGGAAGGAAGAAGAGAAGA, NC_000001.10:g.109726210_109726211insTTCCTTT, NG_032763.1:g.74626_74627insGAAGGAGGAGGGAGGGAGAGGAAGGAAGGAAGAAGAGAAGA, NG_032763.1:g.74626_74627insTTCCTTT

Select item 149111478214.

rs1491114782 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 1:109183588 (GRCh38)
1:109726210 (GRCh37)
Canonical SPDI:: NC_000001.11:109183587:CC:
Gene:: ELAPOR1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000126/13 (GnomAD)
HGVS:: NC_000001.11:g.109183588_109183589del, NC_000001.10:g.109726210_109726211del, NG_032763.1:g.74626_74627del

Select item 149110298915.

rs1491102989 has merged into rs71069661 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:109203888 (GRCh38)
1:109746510 (GRCh37)
Canonical SPDI:: NC_000001.11:109203879:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000001.11:109203879:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:109203879:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:109203879:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:109203879:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:109203879:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:109203879:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:109203879:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:109203879:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:109203879:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:109203879:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:109203879:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:109203879:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:109203879:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:109203879:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ELAPOR1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
AAA=0.2764/1384 (1000Genomes)
HGVS:: NC_000001.11:g.109203888_109203900del, NC_000001.11:g.109203892_109203900del, NC_000001.11:g.109203893_109203900del, NC_000001.11:g.109203894_109203900del, NC_000001.11:g.109203895_109203900del, NC_000001.11:g.109203896_109203900del, NC_000001.11:g.109203897_109203900del, NC_000001.11:g.109203898_109203900del, NC_000001.11:g.109203899_109203900del, NC_000001.11:g.109203900del, NC_000001.11:g.109203900dup, NC_000001.11:g.109203899_109203900dup, NC_000001.11:g.109203898_109203900dup, NC_000001.11:g.109203897_109203900dup, NC_000001.11:g.109203895_109203900dup, NC_000001.10:g.109746510_109746522del, NC_000001.10:g.109746514_109746522del, NC_000001.10:g.109746515_109746522del, NC_000001.10:g.109746516_109746522del, NC_000001.10:g.109746517_109746522del, NC_000001.10:g.109746518_109746522del, NC_000001.10:g.109746519_109746522del, NC_000001.10:g.109746520_109746522del, NC_000001.10:g.109746521_109746522del, NC_000001.10:g.109746522del, NC_000001.10:g.109746522dup, NC_000001.10:g.109746521_109746522dup, NC_000001.10:g.109746520_109746522dup, NC_000001.10:g.109746519_109746522dup, NC_000001.10:g.109746517_109746522dup, NG_032763.1:g.94926_94938del, NG_032763.1:g.94930_94938del, NG_032763.1:g.94931_94938del, NG_032763.1:g.94932_94938del, NG_032763.1:g.94933_94938del, NG_032763.1:g.94934_94938del, NG_032763.1:g.94935_94938del, NG_032763.1:g.94936_94938del, NG_032763.1:g.94937_94938del, NG_032763.1:g.94938del, NG_032763.1:g.94938dup, NG_032763.1:g.94937_94938dup, NG_032763.1:g.94936_94938dup, NG_032763.1:g.94935_94938dup, NG_032763.1:g.94933_94938dup, NM_020775.5:c.*876_*888del, NM_020775.5:c.*880_*888del, NM_020775.5:c.*881_*888del, NM_020775.5:c.*882_*888del, NM_020775.5:c.*883_*888del, NM_020775.5:c.*884_*888del, NM_020775.5:c.*885_*888del, NM_020775.5:c.*886_*888del, NM_020775.5:c.*887_*888del, NM_020775.5:c.*888del, NM_020775.5:c.*888dup, NM_020775.5:c.*887_*888dup, NM_020775.5:c.*886_*888dup, NM_020775.5:c.*885_*888dup, NM_020775.5:c.*883_*888dup, NM_020775.4:c.*876_*888del, NM_020775.4:c.*880_*888del, NM_020775.4:c.*881_*888del, NM_020775.4:c.*882_*888del, NM_020775.4:c.*883_*888del, NM_020775.4:c.*884_*888del, NM_020775.4:c.*885_*888del, NM_020775.4:c.*886_*888del, NM_020775.4:c.*887_*888del, NM_020775.4:c.*888del, NM_020775.4:c.*888dup, NM_020775.4:c.*887_*888dup, NM_020775.4:c.*886_*888dup, NM_020775.4:c.*885_*888dup, NM_020775.4:c.*883_*888dup, NM_001284353.2:c.*876_*888del, NM_001284353.2:c.*880_*888del, NM_001284353.2:c.*881_*888del, NM_001284353.2:c.*882_*888del, NM_001284353.2:c.*883_*888del, NM_001284353.2:c.*884_*888del, NM_001284353.2:c.*885_*888del, NM_001284353.2:c.*886_*888del, NM_001284353.2:c.*887_*888del, NM_001284353.2:c.*888del, NM_001284353.2:c.*888dup, NM_001284353.2:c.*887_*888dup, NM_001284353.2:c.*886_*888dup, NM_001284353.2:c.*885_*888dup, NM_001284353.2:c.*883_*888dup, NM_001284353.1:c.*876_*888del, NM_001284353.1:c.*880_*888del, NM_001284353.1:c.*881_*888del, NM_001284353.1:c.*882_*888del, NM_001284353.1:c.*883_*888del, NM_001284353.1:c.*884_*888del, NM_001284353.1:c.*885_*888del, NM_001284353.1:c.*886_*888del, NM_001284353.1:c.*887_*888del, NM_001284353.1:c.*888del, NM_001284353.1:c.*888dup, NM_001284353.1:c.*887_*888dup, NM_001284353.1:c.*886_*888dup, NM_001284353.1:c.*885_*888dup, NM_001284353.1:c.*883_*888dup, NM_001284352.2:c.*934_*946del, NM_001284352.2:c.*938_*946del, NM_001284352.2:c.*939_*946del, NM_001284352.2:c.*940_*946del, NM_001284352.2:c.*941_*946del, NM_001284352.2:c.*942_*946del, NM_001284352.2:c.*943_*946del, NM_001284352.2:c.*944_*946del, NM_001284352.2:c.*945_*946del, NM_001284352.2:c.*946del, NM_001284352.2:c.*946dup, NM_001284352.2:c.*945_*946dup, NM_001284352.2:c.*944_*946dup, NM_001284352.2:c.*943_*946dup, NM_001284352.2:c.*941_*946dup, NM_001284352.1:c.*934_*946del, NM_001284352.1:c.*938_*946del, NM_001284352.1:c.*939_*946del, NM_001284352.1:c.*940_*946del, NM_001284352.1:c.*941_*946del, NM_001284352.1:c.*942_*946del, NM_001284352.1:c.*943_*946del, NM_001284352.1:c.*944_*946del, NM_001284352.1:c.*945_*946del, NM_001284352.1:c.*946del, NM_001284352.1:c.*946dup, NM_001284352.1:c.*945_*946dup, NM_001284352.1:c.*944_*946dup, NM_001284352.1:c.*943_*946dup, NM_001284352.1:c.*941_*946dup, NM_001267048.2:c.*876_*888del, NM_001267048.2:c.*880_*888del, NM_001267048.2:c.*881_*888del, NM_001267048.2:c.*882_*888del, NM_001267048.2:c.*883_*888del, NM_001267048.2:c.*884_*888del, NM_001267048.2:c.*885_*888del, NM_001267048.2:c.*886_*888del, NM_001267048.2:c.*887_*888del, NM_001267048.2:c.*888del, NM_001267048.2:c.*888dup, NM_001267048.2:c.*887_*888dup, NM_001267048.2:c.*886_*888dup, NM_001267048.2:c.*885_*888dup, NM_001267048.2:c.*883_*888dup, NM_001267048.1:c.*876_*888del, NM_001267048.1:c.*880_*888del, NM_001267048.1:c.*881_*888del, NM_001267048.1:c.*882_*888del, NM_001267048.1:c.*883_*888del, NM_001267048.1:c.*884_*888del, NM_001267048.1:c.*885_*888del, NM_001267048.1:c.*886_*888del, NM_001267048.1:c.*887_*888del, NM_001267048.1:c.*888del, NM_001267048.1:c.*888dup, NM_001267048.1:c.*887_*888dup, NM_001267048.1:c.*886_*888dup, NM_001267048.1:c.*885_*888dup, NM_001267048.1:c.*883_*888dup, XM_011541825.3:c.*934_*946del, XM_011541825.3:c.*938_*946del, XM_011541825.3:c.*939_*946del, XM_011541825.3:c.*940_*946del, XM_011541825.3:c.*941_*946del, XM_011541825.3:c.*942_*946del, XM_011541825.3:c.*943_*946del, XM_011541825.3:c.*944_*946del, XM_011541825.3:c.*945_*946del, XM_011541825.3:c.*946del, XM_011541825.3:c.*946dup, XM_011541825.3:c.*945_*946dup, XM_011541825.3:c.*944_*946dup, XM_011541825.3:c.*943_*946dup, XM_011541825.3:c.*941_*946dup, XM_011541825.2:c.*934_*946del, XM_011541825.2:c.*938_*946del, XM_011541825.2:c.*939_*946del, XM_011541825.2:c.*940_*946del, XM_011541825.2:c.*941_*946del, XM_011541825.2:c.*942_*946del, XM_011541825.2:c.*943_*946del, XM_011541825.2:c.*944_*946del, XM_011541825.2:c.*945_*946del, XM_011541825.2:c.*946del, XM_011541825.2:c.*946dup, XM_011541825.2:c.*945_*946dup, XM_011541825.2:c.*944_*946dup, XM_011541825.2:c.*943_*946dup, XM_011541825.2:c.*941_*946dup, XM_011541825.1:c.*934_*946del, XM_011541825.1:c.*938_*946del, XM_011541825.1:c.*939_*946del, XM_011541825.1:c.*940_*946del, XM_011541825.1:c.*941_*946del, XM_011541825.1:c.*942_*946del, XM_011541825.1:c.*943_*946del, XM_011541825.1:c.*944_*946del, XM_011541825.1:c.*945_*946del, XM_011541825.1:c.*946del, XM_011541825.1:c.*946dup, XM_011541825.1:c.*945_*946dup, XM_011541825.1:c.*944_*946dup, XM_011541825.1:c.*943_*946dup, XM_011541825.1:c.*941_*946dup, XM_011541827.3:c.*876_*888del, XM_011541827.3:c.*880_*888del, XM_011541827.3:c.*881_*888del, XM_011541827.3:c.*882_*888del, XM_011541827.3:c.*883_*888del, XM_011541827.3:c.*884_*888del, XM_011541827.3:c.*885_*888del, XM_011541827.3:c.*886_*888del, XM_011541827.3:c.*887_*888del, XM_011541827.3:c.*888del, XM_011541827.3:c.*888dup, XM_011541827.3:c.*887_*888dup, XM_011541827.3:c.*886_*888dup, XM_011541827.3:c.*885_*888dup, XM_011541827.3:c.*883_*888dup, XM_011541827.2:c.*876_*888del, XM_011541827.2:c.*880_*888del, XM_011541827.2:c.*881_*888del, XM_011541827.2:c.*882_*888del, XM_011541827.2:c.*883_*888del, XM_011541827.2:c.*884_*888del, XM_011541827.2:c.*885_*888del, XM_011541827.2:c.*886_*888del, XM_011541827.2:c.*887_*888del, XM_011541827.2:c.*888del, XM_011541827.2:c.*888dup, XM_011541827.2:c.*887_*888dup, XM_011541827.2:c.*886_*888dup, XM_011541827.2:c.*885_*888dup, XM_011541827.2:c.*883_*888dup, XM_011541827.1:c.*876_*888del, XM_011541827.1:c.*880_*888del, XM_011541827.1:c.*881_*888del, XM_011541827.1:c.*882_*888del, XM_011541827.1:c.*883_*888del, XM_011541827.1:c.*884_*888del, XM_011541827.1:c.*885_*888del, XM_011541827.1:c.*886_*888del, XM_011541827.1:c.*887_*888del, XM_011541827.1:c.*888del, XM_011541827.1:c.*888dup, XM_011541827.1:c.*887_*888dup, XM_011541827.1:c.*886_*888dup, XM_011541827.1:c.*885_*888dup, XM_011541827.1:c.*883_*888dup, NR_049773.1:n.4049_4061del, NR_049773.1:n.4053_4061del, NR_049773.1:n.4054_4061del, NR_049773.1:n.4055_4061del, NR_049773.1:n.4056_4061del, NR_049773.1:n.4057_4061del, NR_049773.1:n.4058_4061del, NR_049773.1:n.4059_4061del, NR_049773.1:n.4060_4061del, NR_049773.1:n.4061del, NR_049773.1:n.4061dup, NR_049773.1:n.4060_4061dup, NR_049773.1:n.4059_4061dup, NR_049773.1:n.4058_4061dup, NR_049773.1:n.4056_4061dup, NR_049774.1:n.3999_4011del, NR_049774.1:n.4003_4011del, NR_049774.1:n.4004_4011del, NR_049774.1:n.4005_4011del, NR_049774.1:n.4006_4011del, NR_049774.1:n.4007_4011del, NR_049774.1:n.4008_4011del, NR_049774.1:n.4009_4011del, NR_049774.1:n.4010_4011del, NR_049774.1:n.4011del, NR_049774.1:n.4011dup, NR_049774.1:n.4010_4011dup, NR_049774.1:n.4009_4011dup, NR_049774.1:n.4008_4011dup, NR_049774.1:n.4006_4011dup, XM_047426133.1:c.*876_*888del, XM_047426133.1:c.*880_*888del, XM_047426133.1:c.*881_*888del, XM_047426133.1:c.*882_*888del, XM_047426133.1:c.*883_*888del, XM_047426133.1:c.*884_*888del, XM_047426133.1:c.*885_*888del, XM_047426133.1:c.*886_*888del, XM_047426133.1:c.*887_*888del, XM_047426133.1:c.*888del, XM_047426133.1:c.*888dup, XM_047426133.1:c.*887_*888dup, XM_047426133.1:c.*886_*888dup, XM_047426133.1:c.*885_*888dup, XM_047426133.1:c.*883_*888dup, NM_001267049.1:c.*876_*888del, NM_001267049.1:c.*880_*888del, NM_001267049.1:c.*881_*888del, NM_001267049.1:c.*882_*888del, NM_001267049.1:c.*883_*888del, NM_001267049.1:c.*884_*888del, NM_001267049.1:c.*885_*888del, NM_001267049.1:c.*886_*888del, NM_001267049.1:c.*887_*888del, NM_001267049.1:c.*888del, NM_001267049.1:c.*888dup, NM_001267049.1:c.*887_*888dup, NM_001267049.1:c.*886_*888dup, NM_001267049.1:c.*885_*888dup, NM_001267049.1:c.*883_*888dup

Select item 149100586816.

rs1491005868 has merged into rs36072628 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA [Show Flanks]
Chromosome:: 1:109146334 (GRCh38)
1:109688956 (GRCh37)
Canonical SPDI:: NC_000001.11:109146324:AAAAAAAAAAA:AAAAAAAAA,NC_000001.11:109146324:AAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:109146324:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:109146324:AAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:109146324:AAAAAAAAAAA:AAAAAAAAAAAAAA
Gene:: ELAPOR1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
A=0.0817/17 (Vietnamese)
A=0.3588/1677 (1000Genomes)
HGVS:: NC_000001.11:g.109146334_109146335del, NC_000001.11:g.109146335del, NC_000001.11:g.109146335dup, NC_000001.11:g.109146334_109146335dup, NC_000001.11:g.109146333_109146335dup, NC_000001.10:g.109688956_109688957del, NC_000001.10:g.109688957del, NC_000001.10:g.109688957dup, NC_000001.10:g.109688956_109688957dup, NC_000001.10:g.109688955_109688957dup, NG_032763.1:g.37372_37373del, NG_032763.1:g.37373del, NG_032763.1:g.37373dup, NG_032763.1:g.37372_37373dup, NG_032763.1:g.37371_37373dup

Select item 149100546917.

rs1491005469 has merged into rs11392572 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:109152960 (GRCh38)
1:109695582 (GRCh37)
Canonical SPDI:: NC_000001.11:109152952:AAAAAAAAAAAAAAAAA:AAAAAAA,NC_000001.11:109152952:AAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000001.11:109152952:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:109152952:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:109152952:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:109152952:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:109152952:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:109152952:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:109152952:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:109152952:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:109152952:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:109152952:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:109152952:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ELAPOR1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
A=0.2951/1478 (1000Genomes)
HGVS:: NC_000001.11:g.109152960_109152969del, NC_000001.11:g.109152961_109152969del, NC_000001.11:g.109152963_109152969del, NC_000001.11:g.109152964_109152969del, NC_000001.11:g.109152965_109152969del, NC_000001.11:g.109152967_109152969del, NC_000001.11:g.109152968_109152969del, NC_000001.11:g.109152969del, NC_000001.11:g.109152969dup, NC_000001.11:g.109152968_109152969dup, NC_000001.11:g.109152967_109152969dup, NC_000001.11:g.109152961_109152969dup, NC_000001.11:g.109152957_109152969dup, NC_000001.10:g.109695582_109695591del, NC_000001.10:g.109695583_109695591del, NC_000001.10:g.109695585_109695591del, NC_000001.10:g.109695586_109695591del, NC_000001.10:g.109695587_109695591del, NC_000001.10:g.109695589_109695591del, NC_000001.10:g.109695590_109695591del, NC_000001.10:g.109695591del, NC_000001.10:g.109695591dup, NC_000001.10:g.109695590_109695591dup, NC_000001.10:g.109695589_109695591dup, NC_000001.10:g.109695583_109695591dup, NC_000001.10:g.109695579_109695591dup, NG_032763.1:g.43998_44007del, NG_032763.1:g.43999_44007del, NG_032763.1:g.44001_44007del, NG_032763.1:g.44002_44007del, NG_032763.1:g.44003_44007del, NG_032763.1:g.44005_44007del, NG_032763.1:g.44006_44007del, NG_032763.1:g.44007del, NG_032763.1:g.44007dup, NG_032763.1:g.44006_44007dup, NG_032763.1:g.44005_44007dup, NG_032763.1:g.43999_44007dup, NG_032763.1:g.43995_44007dup

Select item 149099489918.

rs1490994899 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:109174209 (GRCh38)
1:109716831 (GRCh37)
Canonical SPDI:: NC_000001.11:109174208:G:A
Gene:: ELAPOR1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000036/5 (GnomAD)
A=0.000117/31 (TOPMED)
HGVS:: NC_000001.11:g.109174209G>A, NC_000001.10:g.109716831G>A, NG_032763.1:g.65247G>A

Select item 149098517819.

rs1490985178 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 1:109190294 (GRCh38)
1:109732916 (GRCh37)
Canonical SPDI:: NC_000001.11:109190293:AG:
Gene:: ELAPOR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000224/1 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000035/1 (TOMMO)
-=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.109190294_109190295del, NC_000001.10:g.109732916_109732917del, NG_032763.1:g.81332_81333del

Select item 149092105920.

rs1490921059 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:109188773 (GRCh38)
1:109731395 (GRCh37)
Canonical SPDI:: NC_000001.11:109188772:A:C
Gene:: ELAPOR1 (Varview)
Functional Consequence:: intron_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_000001.11:g.109188773A>C, NC_000001.10:g.109731395A>C, NG_032763.1:g.79811A>C

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