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Select item 14915402381.

rs1491540238 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 17:19278087 (GRCh38)
17:19181400 (GRCh37)
Canonical SPDI:: NC_000017.11:19278085:AGA:A
Gene:: EPN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000022/3 (GnomAD)
-=0.000156/1 (1000Genomes)
HGVS:: NC_000017.11:g.19278087_19278088del, NC_000017.10:g.19181400_19181401del

Select item 14915315012.

rs1491531501 has merged into rs36161060 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:19326698 (GRCh38)
17:19230011 (GRCh37)
Canonical SPDI:: NC_000017.11:19326686:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:19326686:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:19326686:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:19326686:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:19326686:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:19326686:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:19326686:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:19326686:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:19326686:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:19326686:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:19326686:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:19326686:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:19326686:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:19326686:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:19326686:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:19326686:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:19326686:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:19326686:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:19326686:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: EPN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.19326698_19326706del, NC_000017.11:g.19326699_19326706del, NC_000017.11:g.19326700_19326706del, NC_000017.11:g.19326701_19326706del, NC_000017.11:g.19326702_19326706del, NC_000017.11:g.19326703_19326706del, NC_000017.11:g.19326704_19326706del, NC_000017.11:g.19326705_19326706del, NC_000017.11:g.19326706del, NC_000017.11:g.19326706dup, NC_000017.11:g.19326705_19326706dup, NC_000017.11:g.19326704_19326706dup, NC_000017.11:g.19326703_19326706dup, NC_000017.11:g.19326702_19326706dup, NC_000017.11:g.19326701_19326706dup, NC_000017.11:g.19326700_19326706dup, NC_000017.11:g.19326699_19326706dup, NC_000017.11:g.19326697_19326706dup, NC_000017.11:g.19326696_19326706dup, NC_000017.10:g.19230011_19230019del, NC_000017.10:g.19230012_19230019del, NC_000017.10:g.19230013_19230019del, NC_000017.10:g.19230014_19230019del, NC_000017.10:g.19230015_19230019del, NC_000017.10:g.19230016_19230019del, NC_000017.10:g.19230017_19230019del, NC_000017.10:g.19230018_19230019del, NC_000017.10:g.19230019del, NC_000017.10:g.19230019dup, NC_000017.10:g.19230018_19230019dup, NC_000017.10:g.19230017_19230019dup, NC_000017.10:g.19230016_19230019dup, NC_000017.10:g.19230015_19230019dup, NC_000017.10:g.19230014_19230019dup, NC_000017.10:g.19230013_19230019dup, NC_000017.10:g.19230012_19230019dup, NC_000017.10:g.19230010_19230019dup, NC_000017.10:g.19230009_19230019dup

Select item 14915226463.

rs1491522646 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 17:19297916 (GRCh38)
17:19201230 (GRCh37)
Canonical SPDI:: NC_000017.11:19297916:C:CC
Gene:: EPN2 (Varview), EPN2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.19297917dup, NC_000017.10:g.19201230dup

Select item 14914604004.

rs1491460400 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 17:19250749 (GRCh38)
17:19154063 (GRCh37)
Canonical SPDI:: NC_000017.11:19250749:GGGG:GGGGG
Gene:: EPN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGG=0.000142/2 (ALFA)
G=0.000083/22 (TOPMED)
G=0.000093/13 (GnomAD)
HGVS:: NC_000017.11:g.19250753dup, NC_000017.10:g.19154066dup

Select item 14914438185.

rs1491443818 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: 17:19297918 (GRCh38)
17:19201231 (GRCh37)
Canonical SPDI:: NC_000017.11:19297915:TCTC:TC
Gene:: EPN2 (Varview), EPN2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTC=0./0 (ALFA)
-=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.19297916TC[1], NC_000017.10:g.19201229TC[1]

Select item 14914035436.

rs1491403543 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 17:19333977 (GRCh38)
17:19237290 (GRCh37)
Canonical SPDI:: NC_000017.11:19333976:CT:
Gene:: EPN2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000009/2 (GnomAD_exomes)
-=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.19333977_19333978del, NC_000017.10:g.19237290_19237291del, NG_031885.2:g.49216_49217del, NM_014964.5:c.1649_1650del, NM_014964.4:c.1649_1650del, NM_148921.4:c.1478_1479del, NM_148921.3:c.1478_1479del, NM_001102664.2:c.794_795del, NM_001102664.1:c.794_795del, NP_055779.2:p.Pro550fs, NP_683723.2:p.Pro493fs, NP_001096134.1:p.Pro265fs

Select item 14913990507.

rs1491399050 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 17:19257524 (GRCh38)
17:19160838 (GRCh37)
Canonical SPDI:: NC_000017.11:19257524::C
Gene:: EPN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.00008/1 (ALFA)
HGVS:: NC_000017.11:g.19257524_19257525insC, NC_000017.10:g.19160837_19160838insC

Select item 14913968958.

rs1491396895 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCTC>-,TC [Show Flanks]
Chromosome:: 17:19327304 (GRCh38)
17:19230617 (GRCh37)
Canonical SPDI:: NC_000017.11:19327300:CTCTCTC:CTC,NC_000017.11:19327300:CTCTCTC:CTCTC
Gene:: EPN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCTC=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000023/6 (TOPMED)
-=0.000071/1 (TOMMO)
-=0.000546/1 (Korea1K)
HGVS:: NC_000017.11:g.19327302TC[1], NC_000017.11:g.19327302TC[2], NC_000017.10:g.19230615TC[1], NC_000017.10:g.19230615TC[2]

Select item 14913848099.

rs1491384809 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAAAA [Show Flanks]
Chromosome:: 17:19326687 (GRCh38)
17:19230001 (GRCh37)
Canonical SPDI:: NC_000017.11:19326687:AAAA:AAAAGAAAA
Gene:: EPN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAGAAAA=0./0 (ALFA)
AAAAG=0.000004/1 (TOPMED)
AAAAG=0.000135/1 (GnomAD)
HGVS:: NC_000017.11:g.19326688_19326691A[4]GAAAA[1], NC_000017.10:g.19230001_19230004A[4]GAAAA[1]

Select item 149137870310.

rs1491378703 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 17:19291427 (GRCh38)
17:19194740 (GRCh37)
Canonical SPDI:: NC_000017.11:19291426:AT:
Gene:: EPN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00086/14 (ALFA)
-=0.00042/41 (GnomAD)
-=0.00055/1 (Korea1K)
HGVS:: NC_000017.11:g.19291427_19291428del, NC_000017.10:g.19194740_19194741del

Select item 149136332411.

rs1491363324 has merged into rs34201206 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 17:19257535 (GRCh38)
17:19160848 (GRCh37)
Canonical SPDI:: NC_000017.11:19257523:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:19257523:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:19257523:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:19257523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:19257523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:19257523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
Gene:: EPN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000017.11:g.19257535_19257537del, NC_000017.11:g.19257536_19257537del, NC_000017.11:g.19257537del, NC_000017.11:g.19257537dup, NC_000017.11:g.19257536_19257537dup, NC_000017.11:g.19257535_19257537dup, NC_000017.10:g.19160848_19160850del, NC_000017.10:g.19160849_19160850del, NC_000017.10:g.19160850del, NC_000017.10:g.19160850dup, NC_000017.10:g.19160849_19160850dup, NC_000017.10:g.19160848_19160850dup

Select item 149132888012.

rs1491328880 has merged into rs761662309 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC [Show Flanks]
Chromosome:: 17:19295356 (GRCh38)
17:19198669 (GRCh37)
Canonical SPDI:: NC_000017.11:19295341:ACACACACACACACACACACACACAC:ACACACACACACAC,NC_000017.11:19295341:ACACACACACACACACACACACACAC:ACACACACACACACAC,NC_000017.11:19295341:ACACACACACACACACACACACACAC:ACACACACACACACACAC,NC_000017.11:19295341:ACACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000017.11:19295341:ACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000017.11:19295341:ACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000017.11:19295341:ACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000017.11:19295341:ACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000017.11:19295341:ACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000017.11:19295341:ACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000017.11:19295341:ACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC
Gene:: EPN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACAC=0./0 (ALFA)
ACAC=0.05/2 (GENOME_DK)
HGVS:: NC_000017.11:g.19295342AC[7], NC_000017.11:g.19295342AC[8], NC_000017.11:g.19295342AC[9], NC_000017.11:g.19295342AC[10], NC_000017.11:g.19295342AC[11], NC_000017.11:g.19295342AC[12], NC_000017.11:g.19295342AC[14], NC_000017.11:g.19295342AC[15], NC_000017.11:g.19295342AC[16], NC_000017.11:g.19295342AC[17], NC_000017.11:g.19295342AC[18], NC_000017.10:g.19198655AC[7], NC_000017.10:g.19198655AC[8], NC_000017.10:g.19198655AC[9], NC_000017.10:g.19198655AC[10], NC_000017.10:g.19198655AC[11], NC_000017.10:g.19198655AC[12], NC_000017.10:g.19198655AC[14], NC_000017.10:g.19198655AC[15], NC_000017.10:g.19198655AC[16], NC_000017.10:g.19198655AC[17], NC_000017.10:g.19198655AC[18]

Select item 149130820913.

rs1491308209 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GC [Show Flanks]
Chromosome:: 17:19295342 (GRCh38)
17:19198656 (GRCh37)
Canonical SPDI:: NC_000017.11:19295342:C:CGC
Gene:: EPN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CGC=0./0 (ALFA)
CG=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.19295343_19295344insGC, NC_000017.10:g.19198656_19198657insGC

Select item 149129805414.

rs1491298054 has merged into rs58087532 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:19289734 (GRCh38)
17:19193047 (GRCh37)
Canonical SPDI:: NC_000017.11:19289724:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000017.11:19289724:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:19289724:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:19289724:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:19289724:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:19289724:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:19289724:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:19289724:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:19289724:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:19289724:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:19289724:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:19289724:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:19289724:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:19289724:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:19289724:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:19289724:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:19289724:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:19289724:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:19289724:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:19289724:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:19289724:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:19289724:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:19289724:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:19289724:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:19289724:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:19289724:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:19289724:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:19289724:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:19289724:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:19289724:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:19289724:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:19289724:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:19289724:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:19289724:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:19289724:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:19289724:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:19289724:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:19289724:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:19289724:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:19289724:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:19289724:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:19289724:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:19289724:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:19289724:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:19289724:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:19289724:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:19289724:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:19289724:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:19289724:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:19289724:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: EPN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000017.11:g.19289734_19289744del, NC_000017.11:g.19289736_19289744del, NC_000017.11:g.19289737_19289744del, NC_000017.11:g.19289738_19289744del, NC_000017.11:g.19289739_19289744del, NC_000017.11:g.19289740_19289744del, NC_000017.11:g.19289741_19289744del, NC_000017.11:g.19289742_19289744del, NC_000017.11:g.19289743_19289744del, NC_000017.11:g.19289744del, NC_000017.11:g.19289744dup, NC_000017.11:g.19289743_19289744dup, NC_000017.11:g.19289742_19289744dup, NC_000017.11:g.19289741_19289744dup, NC_000017.11:g.19289740_19289744dup, NC_000017.11:g.19289739_19289744dup, NC_000017.11:g.19289738_19289744dup, NC_000017.11:g.19289737_19289744dup, NC_000017.11:g.19289736_19289744dup, NC_000017.11:g.19289735_19289744dup, NC_000017.11:g.19289734_19289744dup, NC_000017.11:g.19289733_19289744dup, NC_000017.11:g.19289732_19289744dup, NC_000017.11:g.19289731_19289744dup, NC_000017.11:g.19289730_19289744dup, NC_000017.11:g.19289729_19289744dup, NC_000017.11:g.19289728_19289744dup, NC_000017.11:g.19289727_19289744dup, NC_000017.11:g.19289726_19289744dup, NC_000017.11:g.19289725_19289744dup, NC_000017.11:g.19289744_19289745insTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.19289744_19289745insTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.19289744_19289745insTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.19289744_19289745insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.19289744_19289745insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.19289744_19289745insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.19289744_19289745insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.19289744_19289745insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.19289744_19289745insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.19289744_19289745insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.19289744_19289745insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.19289744_19289745insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.19289744_19289745insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.19289744_19289745insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.19289744_19289745insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.19289744_19289745insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.19289744_19289745insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.19289744_19289745insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.19289744_19289745insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.19289744_19289745insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.19193047_19193057del, NC_000017.10:g.19193049_19193057del, NC_000017.10:g.19193050_19193057del, NC_000017.10:g.19193051_19193057del, NC_000017.10:g.19193052_19193057del, NC_000017.10:g.19193053_19193057del, NC_000017.10:g.19193054_19193057del, NC_000017.10:g.19193055_19193057del, NC_000017.10:g.19193056_19193057del, NC_000017.10:g.19193057del, NC_000017.10:g.19193057dup, NC_000017.10:g.19193056_19193057dup, NC_000017.10:g.19193055_19193057dup, NC_000017.10:g.19193054_19193057dup, NC_000017.10:g.19193053_19193057dup, NC_000017.10:g.19193052_19193057dup, NC_000017.10:g.19193051_19193057dup, NC_000017.10:g.19193050_19193057dup, NC_000017.10:g.19193049_19193057dup, NC_000017.10:g.19193048_19193057dup, NC_000017.10:g.19193047_19193057dup, NC_000017.10:g.19193046_19193057dup, NC_000017.10:g.19193045_19193057dup, NC_000017.10:g.19193044_19193057dup, NC_000017.10:g.19193043_19193057dup, NC_000017.10:g.19193042_19193057dup, NC_000017.10:g.19193041_19193057dup, NC_000017.10:g.19193040_19193057dup, NC_000017.10:g.19193039_19193057dup, NC_000017.10:g.19193038_19193057dup, NC_000017.10:g.19193057_19193058insTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.19193057_19193058insTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.19193057_19193058insTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.19193057_19193058insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.19193057_19193058insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.19193057_19193058insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.19193057_19193058insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.19193057_19193058insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.19193057_19193058insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.19193057_19193058insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.19193057_19193058insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.19193057_19193058insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.19193057_19193058insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.19193057_19193058insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.19193057_19193058insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.19193057_19193058insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.19193057_19193058insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.19193057_19193058insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.19193057_19193058insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.19193057_19193058insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149128711215.

rs1491287112 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATCTCTCAAA [Show Flanks]
Chromosome:: 17:19327301 (GRCh38)
17:19230615 (GRCh37)
Canonical SPDI:: NC_000017.11:19327301:TCTCTCAAA:TCTCTCAAAATCTCTCAAA
Gene:: EPN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TCTCTCAAAATCTCTCAAA=0./0 (ALFA)
TCTCTCAAAA=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.19327302_19327310TC[3]A[4]TC[3]AAA[1], NC_000017.10:g.19230615_19230623TC[3]A[4]TC[3]AAA[1]

Select item 149121226916.

rs1491212269 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 17:19271157 (GRCh38)
17:19174470 (GRCh37)
Canonical SPDI:: NC_000017.11:19271156:AG:
Gene:: EPN2 (Varview), EPN2-IT1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000022/3 (GnomAD)
-=0.000038/10 (TOPMED)
HGVS:: NC_000017.11:g.19271157_19271158del, NC_000017.10:g.19174470_19174471del

Select item 149120773017.

rs1491207730 has merged into rs58679739 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:19277410 (GRCh38)
17:19180723 (GRCh37)
Canonical SPDI:: NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:19277400:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: EPN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.19277410_19277421del, NC_000017.11:g.19277412_19277421del, NC_000017.11:g.19277413_19277421del, NC_000017.11:g.19277414_19277421del, NC_000017.11:g.19277415_19277421del, NC_000017.11:g.19277416_19277421del, NC_000017.11:g.19277417_19277421del, NC_000017.11:g.19277418_19277421del, NC_000017.11:g.19277419_19277421del, NC_000017.11:g.19277420_19277421del, NC_000017.11:g.19277421del, NC_000017.11:g.19277421dup, NC_000017.11:g.19277420_19277421dup, NC_000017.11:g.19277419_19277421dup, NC_000017.11:g.19277418_19277421dup, NC_000017.11:g.19277417_19277421dup, NC_000017.11:g.19277416_19277421dup, NC_000017.10:g.19180723_19180734del, NC_000017.10:g.19180725_19180734del, NC_000017.10:g.19180726_19180734del, NC_000017.10:g.19180727_19180734del, NC_000017.10:g.19180728_19180734del, NC_000017.10:g.19180729_19180734del, NC_000017.10:g.19180730_19180734del, NC_000017.10:g.19180731_19180734del, NC_000017.10:g.19180732_19180734del, NC_000017.10:g.19180733_19180734del, NC_000017.10:g.19180734del, NC_000017.10:g.19180734dup, NC_000017.10:g.19180733_19180734dup, NC_000017.10:g.19180732_19180734dup, NC_000017.10:g.19180731_19180734dup, NC_000017.10:g.19180730_19180734dup, NC_000017.10:g.19180729_19180734dup

Select item 149118043518.

rs1491180435 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTTTTTTTTCTTTT,GTTTT [Show Flanks]
Chromosome:: 17:19276774 (GRCh38)
17:19180088 (GRCh37)
Canonical SPDI:: NC_000017.11:19276774:TTTT:TTTTCTTTTTTTTTCTTTT,NC_000017.11:19276774:TTTT:TTTTGTTTT
Gene:: EPN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTGTTTT=0./0 (ALFA)
HGVS:: NC_000017.11:g.19276775_19276778T[4]CTTTTTTTTTCTTTT[1], NC_000017.11:g.19276775_19276778T[4]GTTTT[1], NC_000017.10:g.19180088_19180091T[4]CTTTTTTTTTCTTTT[1], NC_000017.10:g.19180088_19180091T[4]GTTTT[1]

Select item 149115691919.

rs1491156919 has merged into rs60753158 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:19291441 (GRCh38)
17:19194754 (GRCh37)
Canonical SPDI:: NC_000017.11:19291427:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:19291427:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:19291427:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:19291427:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:19291427:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:19291427:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:19291427:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:19291427:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:19291427:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:19291427:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:19291427:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:19291427:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:19291427:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:19291427:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:19291427:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:19291427:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:19291427:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: EPN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
TT=0.475/19 (GENOME_DK)
HGVS:: NC_000017.11:g.19291441_19291455del, NC_000017.11:g.19291442_19291455del, NC_000017.11:g.19291443_19291455del, NC_000017.11:g.19291444_19291455del, NC_000017.11:g.19291445_19291455del, NC_000017.11:g.19291447_19291455del, NC_000017.11:g.19291448_19291455del, NC_000017.11:g.19291449_19291455del, NC_000017.11:g.19291451_19291455del, NC_000017.11:g.19291452_19291455del, NC_000017.11:g.19291453_19291455del, NC_000017.11:g.19291454_19291455del, NC_000017.11:g.19291455del, NC_000017.11:g.19291455dup, NC_000017.11:g.19291454_19291455dup, NC_000017.11:g.19291453_19291455dup, NC_000017.11:g.19291452_19291455dup, NC_000017.10:g.19194754_19194768del, NC_000017.10:g.19194755_19194768del, NC_000017.10:g.19194756_19194768del, NC_000017.10:g.19194757_19194768del, NC_000017.10:g.19194758_19194768del, NC_000017.10:g.19194760_19194768del, NC_000017.10:g.19194761_19194768del, NC_000017.10:g.19194762_19194768del, NC_000017.10:g.19194764_19194768del, NC_000017.10:g.19194765_19194768del, NC_000017.10:g.19194766_19194768del, NC_000017.10:g.19194767_19194768del, NC_000017.10:g.19194768del, NC_000017.10:g.19194768dup, NC_000017.10:g.19194767_19194768dup, NC_000017.10:g.19194766_19194768dup, NC_000017.10:g.19194765_19194768dup

Select item 149114265620.

rs1491142656 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 17:19246736 (GRCh38)
17:19150049 (GRCh37)
Canonical SPDI:: NC_000017.11:19246735:TC:
Gene:: EPN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.19246736_19246737del, NC_000017.10:g.19150049_19150050del

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