SNP Links for Gene (Select 653677) - SNP

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Select item 14915760651.

rs1491576065 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 19:48655230 (GRCh38)
19:49158487 (GRCh37)
Canonical SPDI:: NC_000019.10:48655228:AAA:A
Gene:: SEC1P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.00011/3 (TOMMO)
-=0.00109/2 (Korea1K)
-=0.00195/194 (GnomAD)
HGVS:: NC_000019.10:g.48655230_48655231del, NC_000019.9:g.49158487_49158488del

Select item 14915065492.

rs1491506549 has merged into rs57516012 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 19:48655226 (GRCh38)
19:49158483 (GRCh37)
Canonical SPDI:: NC_000019.10:48655224:AAA:A
Gene:: SEC1P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00725/86 (ALFA)
-=0.08602/48 (NorthernSweden)
-=0.13758/9204 (GnomAD)
AA=0.19868/995 (1000Genomes)
-=0.3725/6237 (TOMMO)
HGVS:: NC_000019.10:g.48655226_48655227del, NC_000019.9:g.49158483_49158484del

Select item 14914890623.

rs1491489062 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 19:48655173 (GRCh38)
19:49158431 (GRCh37)
Canonical SPDI:: NC_000019.10:48655173:T:TAT
Gene:: SEC1P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TAT=0./0 (ALFA)
HGVS:: NC_000019.10:g.48655174_48655175insAT, NC_000019.9:g.49158431_49158432insAT

Select item 14914215784.

rs1491421578 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CAGT [Show Flanks]
Chromosome:: 19:48669135 (GRCh38)
19:49172393 (GRCh37)
Canonical SPDI:: NC_000019.10:48669135:T:TCAGT
Gene:: NTN5 (Varview), SEC1P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TCAGT=0./0 (ALFA)
TCAG=0.00041/33 (GnomAD)
HGVS:: NC_000019.10:g.48669136_48669137insCAGT, NC_000019.9:g.49172393_49172394insCAGT

Select item 14914213055.

rs1491421305 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GC,TC [Show Flanks]
Chromosome:: 19:48651864 (GRCh38)
19:49155122 (GRCh37)
Canonical SPDI:: NC_000019.10:48651864:C:CGC,NC_000019.10:48651864:C:CTC
Gene:: SEC1P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CTC=0./0 (ALFA)
CG=0.000026/7 (TOPMED)
HGVS:: NC_000019.10:g.48651865_48651866insGC, NC_000019.10:g.48651865_48651866insTC, NC_000019.9:g.49155122_49155123insGC, NC_000019.9:g.49155122_49155123insTC

Select item 14914183936.

rs1491418393 has merged into rs57474977 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:48652775 (GRCh38)
19:49156032 (GRCh37)
Canonical SPDI:: NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:48652766:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SEC1P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
AA=0.3/12 (GENOME_DK)
HGVS:: NC_000019.10:g.48652775_48652792del, NC_000019.10:g.48652777_48652792del, NC_000019.10:g.48652778_48652792del, NC_000019.10:g.48652779_48652792del, NC_000019.10:g.48652780_48652792del, NC_000019.10:g.48652781_48652792del, NC_000019.10:g.48652782_48652792del, NC_000019.10:g.48652783_48652792del, NC_000019.10:g.48652784_48652792del, NC_000019.10:g.48652785_48652792del, NC_000019.10:g.48652786_48652792del, NC_000019.10:g.48652787_48652792del, NC_000019.10:g.48652788_48652792del, NC_000019.10:g.48652789_48652792del, NC_000019.10:g.48652790_48652792del, NC_000019.10:g.48652791_48652792del, NC_000019.10:g.48652792del, NC_000019.10:g.48652792dup, NC_000019.10:g.48652791_48652792dup, NC_000019.10:g.48652790_48652792dup, NC_000019.10:g.48652789_48652792dup, NC_000019.10:g.48652787_48652792dup, NC_000019.9:g.49156032_49156049del, NC_000019.9:g.49156034_49156049del, NC_000019.9:g.49156035_49156049del, NC_000019.9:g.49156036_49156049del, NC_000019.9:g.49156037_49156049del, NC_000019.9:g.49156038_49156049del, NC_000019.9:g.49156039_49156049del, NC_000019.9:g.49156040_49156049del, NC_000019.9:g.49156041_49156049del, NC_000019.9:g.49156042_49156049del, NC_000019.9:g.49156043_49156049del, NC_000019.9:g.49156044_49156049del, NC_000019.9:g.49156045_49156049del, NC_000019.9:g.49156046_49156049del, NC_000019.9:g.49156047_49156049del, NC_000019.9:g.49156048_49156049del, NC_000019.9:g.49156049del, NC_000019.9:g.49156049dup, NC_000019.9:g.49156048_49156049dup, NC_000019.9:g.49156047_49156049dup, NC_000019.9:g.49156046_49156049dup, NC_000019.9:g.49156044_49156049dup

Select item 14914078087.

rs1491407808 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,C [Show Flanks]
Chromosome:: 19:48638375 (GRCh38)
19:49141633 (GRCh37)
Canonical SPDI:: NC_000019.10:48638375::A,NC_000019.10:48638375::C
Gene:: CA11 (Varview), DBP (Varview), SEC1P (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.48638375_48638376insA, NC_000019.10:g.48638375_48638376insC, NC_000019.9:g.49141632_49141633insA, NC_000019.9:g.49141632_49141633insC, NR_136241.2:n.2028_2029insT, NR_136241.2:n.2028_2029insG, NR_136241.1:n.2153_2154insT, NR_136241.1:n.2153_2154insG

Select item 14913966288.

rs1491396628 [Homo sapiens]

Variant type:: INS
Alleles:: ->G,GAGAG,T [Show Flanks]
Chromosome:: 19:48655225 (GRCh38)
19:49158483 (GRCh37)
Canonical SPDI:: NC_000019.10:48655225::G,NC_000019.10:48655225::GAGAG,NC_000019.10:48655225::T
Gene:: SEC1P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.02016/338 (TOMMO)
G=0.06842/39 (NorthernSweden)
HGVS:: NC_000019.10:g.48655225_48655226insG, NC_000019.10:g.48655225_48655226insGAGAG, NC_000019.10:g.48655225_48655226insT, NC_000019.9:g.49158482_49158483insG, NC_000019.9:g.49158482_49158483insGAGAG, NC_000019.9:g.49158482_49158483insT

Select item 14913811579.

rs1491381157 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 19:48655233 (GRCh38)
19:49158491 (GRCh37)
Canonical SPDI:: NC_000019.10:48655233::T
Gene:: SEC1P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000009/1 (GnomAD)
HGVS:: NC_000019.10:g.48655233_48655234insT, NC_000019.9:g.49158490_49158491insT

Select item 149134040010.

rs1491340400 has merged into rs77550533 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:48657627 (GRCh38)
19:49160884 (GRCh37)
Canonical SPDI:: NC_000019.10:48657616:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:48657616:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:48657616:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:48657616:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:48657616:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:48657616:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:48657616:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:48657616:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:48657616:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:48657616:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:48657616:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:48657616:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48657616:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48657616:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48657616:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48657616:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48657616:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48657616:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48657616:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48657616:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48657616:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48657616:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48657616:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48657616:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48657616:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48657616:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48657616:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48657616:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48657616:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48657616:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48657616:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48657616:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SEC1P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000019.10:g.48657627_48657638del, NC_000019.10:g.48657628_48657638del, NC_000019.10:g.48657629_48657638del, NC_000019.10:g.48657630_48657638del, NC_000019.10:g.48657631_48657638del, NC_000019.10:g.48657632_48657638del, NC_000019.10:g.48657633_48657638del, NC_000019.10:g.48657634_48657638del, NC_000019.10:g.48657635_48657638del, NC_000019.10:g.48657636_48657638del, NC_000019.10:g.48657637_48657638del, NC_000019.10:g.48657638del, NC_000019.10:g.48657638dup, NC_000019.10:g.48657637_48657638dup, NC_000019.10:g.48657636_48657638dup, NC_000019.10:g.48657635_48657638dup, NC_000019.10:g.48657634_48657638dup, NC_000019.10:g.48657633_48657638dup, NC_000019.10:g.48657632_48657638dup, NC_000019.10:g.48657631_48657638dup, NC_000019.10:g.48657630_48657638dup, NC_000019.10:g.48657629_48657638dup, NC_000019.10:g.48657627_48657638dup, NC_000019.10:g.48657626_48657638dup, NC_000019.10:g.48657625_48657638dup, NC_000019.10:g.48657617_48657638T[36]CTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.10:g.48657623_48657638dup, NC_000019.10:g.48657622_48657638dup, NC_000019.10:g.48657621_48657638dup, NC_000019.10:g.48657619_48657638dup, NC_000019.10:g.48657617_48657638dup, NC_000019.10:g.48657638_48657639insTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.49160884_49160895del, NC_000019.9:g.49160885_49160895del, NC_000019.9:g.49160886_49160895del, NC_000019.9:g.49160887_49160895del, NC_000019.9:g.49160888_49160895del, NC_000019.9:g.49160889_49160895del, NC_000019.9:g.49160890_49160895del, NC_000019.9:g.49160891_49160895del, NC_000019.9:g.49160892_49160895del, NC_000019.9:g.49160893_49160895del, NC_000019.9:g.49160894_49160895del, NC_000019.9:g.49160895del, NC_000019.9:g.49160895dup, NC_000019.9:g.49160894_49160895dup, NC_000019.9:g.49160893_49160895dup, NC_000019.9:g.49160892_49160895dup, NC_000019.9:g.49160891_49160895dup, NC_000019.9:g.49160890_49160895dup, NC_000019.9:g.49160889_49160895dup, NC_000019.9:g.49160888_49160895dup, NC_000019.9:g.49160887_49160895dup, NC_000019.9:g.49160886_49160895dup, NC_000019.9:g.49160884_49160895dup, NC_000019.9:g.49160883_49160895dup, NC_000019.9:g.49160882_49160895dup, NC_000019.9:g.49160874_49160895T[36]CTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.9:g.49160880_49160895dup, NC_000019.9:g.49160879_49160895dup, NC_000019.9:g.49160878_49160895dup, NC_000019.9:g.49160876_49160895dup, NC_000019.9:g.49160874_49160895dup, NC_000019.9:g.49160895_49160896insTTTTTTTTTTTTTTTTTTTTTTT

Select item 149131270811.

rs1491312708 has merged into rs1371956863 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGAGAGA>-,GA,GAGA,GAGAGA,GAGAGAGAGA,GAGAGAGAGAGA,GAGAGAGAGAGAGA,GAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGA [Show Flanks]
Chromosome:: 19:48655218 (GRCh38)
19:49158475 (GRCh37)
Canonical SPDI:: NC_000019.10:48655198:AGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGA,NC_000019.10:48655198:AGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGA,NC_000019.10:48655198:AGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:48655198:AGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:48655198:AGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:48655198:AGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:48655198:AGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:48655198:AGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:48655198:AGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:48655198:AGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:48655198:AGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:48655198:AGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:48655198:AGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA
Gene:: SEC1P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGAGAGAGAGAGA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.48655200GA[9], NC_000019.10:g.48655200GA[10], NC_000019.10:g.48655200GA[11], NC_000019.10:g.48655200GA[12], NC_000019.10:g.48655200GA[14], NC_000019.10:g.48655200GA[15], NC_000019.10:g.48655200GA[16], NC_000019.10:g.48655200GA[17], NC_000019.10:g.48655200GA[18], NC_000019.10:g.48655200GA[19], NC_000019.10:g.48655200GA[20], NC_000019.10:g.48655200GA[21], NC_000019.10:g.48655200GA[22], NC_000019.9:g.49158457GA[9], NC_000019.9:g.49158457GA[10], NC_000019.9:g.49158457GA[11], NC_000019.9:g.49158457GA[12], NC_000019.9:g.49158457GA[14], NC_000019.9:g.49158457GA[15], NC_000019.9:g.49158457GA[16], NC_000019.9:g.49158457GA[17], NC_000019.9:g.49158457GA[18], NC_000019.9:g.49158457GA[19], NC_000019.9:g.49158457GA[20], NC_000019.9:g.49158457GA[21], NC_000019.9:g.49158457GA[22]

Select item 149130361012.

rs1491303610 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 19:48655234 (GRCh38)
19:49158491 (GRCh37)
Canonical SPDI:: NC_000019.10:48655232:AAA:A
Gene:: SEC1P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.012624/204 (ALFA)
-=0.000496/8 (TOMMO)
-=0.001638/3 (Korea1K)
-=0.011544/1204 (GnomAD)
-=0.021053/12 (NorthernSweden)
HGVS:: NC_000019.10:g.48655234_48655235del, NC_000019.9:g.49158491_49158492del

Select item 149129625613.

rs1491296256 [Homo sapiens]

Variant type:: INS
Alleles:: ->G,GAG,GAGAG,GAGAGAG,GAGAGAGAG,GAGAGAGAGAG,GAGAGAGAGAGAG,GAGAGAGAGAGAGAG,GAGAGAGAGAGAGAGAG,GAGAGAGAGAGAGAGAGAG,GAGAGAGAGAGAGAGAGAGAG,GAGAGAGAGAGAGAGAGAGAGAGAG [Show Flanks]
Chromosome:: 19:48655226 (GRCh38)
19:49158484 (GRCh37)
Canonical SPDI:: NC_000019.10:48655226::G,NC_000019.10:48655226::GAG,NC_000019.10:48655226::GAGAG,NC_000019.10:48655226::GAGAGAG,NC_000019.10:48655226::GAGAGAGAG,NC_000019.10:48655226::GAGAGAGAGAG,NC_000019.10:48655226::GAGAGAGAGAGAG,NC_000019.10:48655226::GAGAGAGAGAGAGAG,NC_000019.10:48655226::GAGAGAGAGAGAGAGAG,NC_000019.10:48655226::GAGAGAGAGAGAGAGAGAG,NC_000019.10:48655226::GAGAGAGAGAGAGAGAGAGAG,NC_000019.10:48655226::GAGAGAGAGAGAGAGAGAGAGAGAG
Gene:: SEC1P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: GAG=0.056/32 (NorthernSweden)
HGVS:: NC_000019.10:g.48655226_48655227insG, NC_000019.10:g.48655226_48655227insGAG, NC_000019.10:g.48655226_48655227insGAGAG, NC_000019.10:g.48655226_48655227insGAGAGAG, NC_000019.10:g.48655226_48655227insGAGAGAGAG, NC_000019.10:g.48655226_48655227insGAGAGAGAGAG, NC_000019.10:g.48655226_48655227insGAGAGAGAGAGAG, NC_000019.10:g.48655226_48655227insGAGAGAGAGAGAGAG, NC_000019.10:g.48655226_48655227insGAGAGAGAGAGAGAGAG, NC_000019.10:g.48655226_48655227insGAGAGAGAGAGAGAGAGAG, NC_000019.10:g.48655226_48655227insGAGAGAGAGAGAGAGAGAGAG, NC_000019.10:g.48655226_48655227insGAGAGAGAGAGAGAGAGAGAGAGAG, NC_000019.9:g.49158483_49158484insG, NC_000019.9:g.49158483_49158484insGAG, NC_000019.9:g.49158483_49158484insGAGAG, NC_000019.9:g.49158483_49158484insGAGAGAG, NC_000019.9:g.49158483_49158484insGAGAGAGAG, NC_000019.9:g.49158483_49158484insGAGAGAGAGAG, NC_000019.9:g.49158483_49158484insGAGAGAGAGAGAG, NC_000019.9:g.49158483_49158484insGAGAGAGAGAGAGAG, NC_000019.9:g.49158483_49158484insGAGAGAGAGAGAGAGAG, NC_000019.9:g.49158483_49158484insGAGAGAGAGAGAGAGAGAG, NC_000019.9:g.49158483_49158484insGAGAGAGAGAGAGAGAGAGAG, NC_000019.9:g.49158483_49158484insGAGAGAGAGAGAGAGAGAGAGAGAG

Select item 149129515214.

rs1491295152 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAAA [Show Flanks]
Chromosome:: 19:48652767 (GRCh38)
19:49156025 (GRCh37)
Canonical SPDI:: NC_000019.10:48652767:AAA:AAATAAA
Gene:: SEC1P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAATAAA=0.00008/1 (ALFA)
HGVS:: NC_000019.10:g.48652770_48652771insTAAA, NC_000019.9:g.49156027_49156028insTAAA

Select item 149125833315.

rs1491258333 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTTT [Show Flanks]
Chromosome:: 19:48655175 (GRCh38)
19:49158432 (GRCh37)
Canonical SPDI:: NC_000019.10:48655172:TTTT:TT,NC_000019.10:48655172:TTTT:TTTTTT
Gene:: SEC1P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0.00008/1 (ALFA)
HGVS:: NC_000019.10:g.48655175_48655176del, NC_000019.10:g.48655175_48655176dup, NC_000019.9:g.49158432_49158433del, NC_000019.9:g.49158432_49158433dup

Select item 149115968416.

rs1491159684 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 19:48655229 (GRCh38)
19:49158487 (GRCh37)
Canonical SPDI:: NC_000019.10:48655229::T
Gene:: SEC1P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000009/1 (GnomAD)
HGVS:: NC_000019.10:g.48655229_48655230insT, NC_000019.9:g.49158486_49158487insT

Select item 149112821017.

rs1491128210 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 19:48669137 (GRCh38)
19:49172394 (GRCh37)
Canonical SPDI:: NC_000019.10:48669134:ATAT:AT
Gene:: NTN5 (Varview), SEC1P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.0003/6 (TOMMO)
HGVS:: NC_000019.10:g.48669135AT[1], NC_000019.9:g.49172392AT[1]

Select item 149106364618.

rs1491063646 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 19:48636583 (GRCh38)
19:49139840 (GRCh37)
Canonical SPDI:: NC_000019.10:48636580:AGAG:AG
Gene:: DBP (Varview), SEC1P (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AGAG=0./0 (ALFA)
-=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.48636581AG[1], NC_000019.9:g.49139838AG[1]

Select item 149106270319.

rs1491062703 has merged into rs3039764 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:48653763 (GRCh38)
19:49157020 (GRCh37)
Canonical SPDI:: NC_000019.10:48653749:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:48653749:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:48653749:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:48653749:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:48653749:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:48653749:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48653749:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48653749:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48653749:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48653749:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48653749:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48653749:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SEC1P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000019.10:g.48653763_48653769del, NC_000019.10:g.48653765_48653769del, NC_000019.10:g.48653767_48653769del, NC_000019.10:g.48653768_48653769del, NC_000019.10:g.48653769del, NC_000019.10:g.48653769dup, NC_000019.10:g.48653768_48653769dup, NC_000019.10:g.48653767_48653769dup, NC_000019.10:g.48653766_48653769dup, NC_000019.10:g.48653765_48653769dup, NC_000019.10:g.48653764_48653769dup, NC_000019.10:g.48653762_48653769dup, NC_000019.9:g.49157020_49157026del, NC_000019.9:g.49157022_49157026del, NC_000019.9:g.49157024_49157026del, NC_000019.9:g.49157025_49157026del, NC_000019.9:g.49157026del, NC_000019.9:g.49157026dup, NC_000019.9:g.49157025_49157026dup, NC_000019.9:g.49157024_49157026dup, NC_000019.9:g.49157023_49157026dup, NC_000019.9:g.49157022_49157026dup, NC_000019.9:g.49157021_49157026dup, NC_000019.9:g.49157019_49157026dup

Select item 149081686020.

rs1490816860 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:48664998 (GRCh38)
19:49168255 (GRCh37)
Canonical SPDI:: NC_000019.10:48664997:C:T
Gene:: NTN5 (Varview), SEC1P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.48664998C>T, NC_000019.9:g.49168255C>T

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