SNP Links for Gene (Select 9994) - SNP

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Select item 14915423781.

rs1491542378 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 6:89842860 (GRCh38)
6:90552580 (GRCh37)
Canonical SPDI:: NC_000006.12:89842860:C:CC
Gene:: CASP8AP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.00001/1 (GnomAD)
HGVS:: NC_000006.12:g.89842861dup, NC_000006.11:g.90552580dup, NW_017363815.1:g.38206dup

Select item 14915303002.

rs1491530300 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 6:89845243 (GRCh38)
6:90554962 (GRCh37)
Canonical SPDI:: NC_000006.12:89845242:AT:
Gene:: CASP8AP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00006/1 (ALFA)
-=0.00007/1 (TOMMO)
-=0.0072/318 (GnomAD)
HGVS:: NC_000006.12:g.89845243_89845244del, NC_000006.11:g.90554962_90554963del, NW_017363815.1:g.40588_40589del

Select item 14914387603.

rs1491438760 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 6:89848881 (GRCh38)
6:90558600 (GRCh37)
Canonical SPDI:: NC_000006.12:89848880:AT:
Gene:: CASP8AP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00002/2 (GnomAD)
HGVS:: NC_000006.12:g.89848881_89848882del, NC_000006.11:g.90558600_90558601del, NW_017363815.1:g.44226_44227del

Select item 14913029724.

rs1491302972 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:89842861 (GRCh38)
6:90552580 (GRCh37)
Canonical SPDI:: NC_000006.12:89842859:ACA:A
Gene:: CASP8AP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.001379/6 (ALFA)
-=0.000453/49 (GnomAD)
HGVS:: NC_000006.12:g.89842861_89842862del, NC_000006.11:g.90552580_90552581del, NW_017363815.1:g.38206_38207del

Select item 14912843865.

rs1491284386 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 6:89845242 (GRCh38)
6:90554961 (GRCh37)
Canonical SPDI:: NC_000006.12:89845241:AA:
Gene:: CASP8AP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000169/2 (ALFA)
-=0.00002/2 (GnomAD)
HGVS:: NC_000006.12:g.89845242_89845243del, NC_000006.11:g.90554961_90554962del, NW_017363815.1:g.40587_40588del

Select item 14912843026.

rs1491284302 has merged into rs796387857 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 6:89843683 (GRCh38)
6:90553402 (GRCh37)
Canonical SPDI:: NC_000006.12:89843676:TTTTTTTT:TTTTTT,NC_000006.12:89843676:TTTTTTTT:TTTTTTT,NC_000006.12:89843676:TTTTTTTT:TTTTTTTTT,NC_000006.12:89843676:TTTTTTTT:TTTTTTTTTT
Gene:: CASP8AP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
T=0.00004/1 (TOMMO)
-=0.00297/19 (1000Genomes)
HGVS:: NC_000006.12:g.89843683_89843684del, NC_000006.12:g.89843684del, NC_000006.12:g.89843684dup, NC_000006.12:g.89843683_89843684dup, NC_000006.11:g.90553402_90553403del, NC_000006.11:g.90553403del, NC_000006.11:g.90553403dup, NC_000006.11:g.90553402_90553403dup, NW_017363815.1:g.39028_39029del, NW_017363815.1:g.39029del, NW_017363815.1:g.39029dup, NW_017363815.1:g.39028_39029dup

Select item 14911604387.

rs1491160438 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATGT,ATGTGTGTGTGT,T [Show Flanks]
Chromosome:: 6:89845243 (GRCh38)
6:90554963 (GRCh37)
Canonical SPDI:: NC_000006.12:89845243:T:TATGT,NC_000006.12:89845243:T:TATGTGTGTGTGT,NC_000006.12:89845243:T:TT
Gene:: CASP8AP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
HGVS:: NC_000006.12:g.89845244_89845245insATGT, NC_000006.12:g.89845244_89845245insATGTGTGTGTGT, NC_000006.12:g.89845244dup, NC_000006.11:g.90554963_90554964insATGT, NC_000006.11:g.90554963_90554964insATGTGTGTGTGT, NC_000006.11:g.90554963dup, NW_017363815.1:g.40589_40590insATGT, NW_017363815.1:g.40589_40590insATGTGTGTGTGT, NW_017363815.1:g.40589dup

Select item 14911409348.

rs1491140934 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,CACAT,CAT,CT [Show Flanks]
Chromosome:: 6:89848881 (GRCh38)
6:90558601 (GRCh37)
Canonical SPDI:: NC_000006.12:89848881::C,NC_000006.12:89848881::CACAT,NC_000006.12:89848881::CAT,NC_000006.12:89848881::CT
Gene:: CASP8AP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACAT=0./0 (ALFA)
CT=0.00004/1 (TOMMO)
HGVS:: NC_000006.12:g.89848881_89848882insC, NC_000006.12:g.89848881_89848882insCACAT, NC_000006.12:g.89848881_89848882insCAT, NC_000006.12:g.89848881_89848882insCT, NC_000006.11:g.90558600_90558601insC, NC_000006.11:g.90558600_90558601insCACAT, NC_000006.11:g.90558600_90558601insCAT, NC_000006.11:g.90558600_90558601insCT, NW_017363815.1:g.44226_44227insC, NW_017363815.1:g.44226_44227insCACAT, NW_017363815.1:g.44226_44227insCAT, NW_017363815.1:g.44226_44227insCT

Select item 14911092769.

rs1491109276 has merged into rs553156364 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,TTTT,TTTTTT [Show Flanks]
Chromosome:: 6:89831952 (GRCh38)
6:90541671 (GRCh37)
Canonical SPDI:: NC_000006.12:89831946:TTTTTTTTTT:TTTTT,NC_000006.12:89831946:TTTTTTTTTT:TTTTTTTTT,NC_000006.12:89831946:TTTTTTTTTT:TTTTTTTTTTT
Gene:: CASP8AP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.000142/2 (TOMMO)
-=0.000259/1 (ALSPAC)
-=0.000809/3 (TWINSUK)
-=0.000941/249 (TOPMED)
-=0.001797/9 (1000Genomes)
-=0.009821/44 (Estonian)
HGVS:: NC_000006.12:g.89831952_89831956del, NC_000006.12:g.89831956del, NC_000006.12:g.89831956dup, NC_000006.11:g.90541671_90541675del, NC_000006.11:g.90541675del, NC_000006.11:g.90541675dup, NW_017363815.1:g.27297_27301del, NW_017363815.1:g.27301del, NW_017363815.1:g.27301dup

Select item 149105119010.

rs1491051190 has merged into rs78342508 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:89834083 (GRCh38)
6:90543802 (GRCh37)
Canonical SPDI:: NC_000006.12:89834071:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:89834071:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:89834071:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:89834071:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:89834071:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:89834071:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:89834071:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:89834071:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:89834071:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:89834071:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CASP8AP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.19369/970 (1000Genomes)
HGVS:: NC_000006.12:g.89834083_89834086del, NC_000006.12:g.89834084_89834086del, NC_000006.12:g.89834085_89834086del, NC_000006.12:g.89834086del, NC_000006.12:g.89834086dup, NC_000006.12:g.89834085_89834086dup, NC_000006.12:g.89834084_89834086dup, NC_000006.12:g.89834083_89834086dup, NC_000006.12:g.89834078_89834086dup, NC_000006.12:g.89834077_89834086dup, NC_000006.11:g.90543802_90543805del, NC_000006.11:g.90543803_90543805del, NC_000006.11:g.90543804_90543805del, NC_000006.11:g.90543805del, NC_000006.11:g.90543805dup, NC_000006.11:g.90543804_90543805dup, NC_000006.11:g.90543803_90543805dup, NC_000006.11:g.90543802_90543805dup, NC_000006.11:g.90543797_90543805dup, NC_000006.11:g.90543796_90543805dup, NW_017363815.1:g.29428_29431del, NW_017363815.1:g.29429_29431del, NW_017363815.1:g.29430_29431del, NW_017363815.1:g.29431del, NW_017363815.1:g.29431dup, NW_017363815.1:g.29430_29431dup, NW_017363815.1:g.29429_29431dup, NW_017363815.1:g.29428_29431dup, NW_017363815.1:g.29423_29431dup, NW_017363815.1:g.29422_29431dup

Select item 149103095811.

rs1491030958 has merged into rs34895867 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
Chromosome:: 6:89859565 (GRCh38)
6:90569284 (GRCh37)
Canonical SPDI:: NC_000006.12:89859553:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:89859553:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:89859553:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:89859553:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:89859553:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
Gene:: CASP8AP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.19519/900 (1000Genomes)
HGVS:: NC_000006.12:g.89859565_89859567del, NC_000006.12:g.89859566_89859567del, NC_000006.12:g.89859567del, NC_000006.12:g.89859567dup, NC_000006.12:g.89859566_89859567dup, NC_000006.11:g.90569284_90569286del, NC_000006.11:g.90569285_90569286del, NC_000006.11:g.90569286del, NC_000006.11:g.90569286dup, NC_000006.11:g.90569285_90569286dup, NW_017363815.1:g.54910_54912del, NW_017363815.1:g.54911_54912del, NW_017363815.1:g.54912del, NW_017363815.1:g.54912dup, NW_017363815.1:g.54911_54912dup

Select item 149101264712.

rs1491012647 has merged into rs1187270250 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 6:89847572 (GRCh38)
6:90557291 (GRCh37)
Canonical SPDI:: NC_000006.12:89847559:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:89847559:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:89847559:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:89847559:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:89847559:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:89847559:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:89847559:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: CASP8AP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.1135/37 (NorthernSweden)
HGVS:: NC_000006.12:g.89847572_89847576del, NC_000006.12:g.89847574_89847576del, NC_000006.12:g.89847575_89847576del, NC_000006.12:g.89847576del, NC_000006.12:g.89847576dup, NC_000006.12:g.89847575_89847576dup, NC_000006.12:g.89847574_89847576dup, NC_000006.11:g.90557291_90557295del, NC_000006.11:g.90557293_90557295del, NC_000006.11:g.90557294_90557295del, NC_000006.11:g.90557295del, NC_000006.11:g.90557295dup, NC_000006.11:g.90557294_90557295dup, NC_000006.11:g.90557293_90557295dup, NW_017363815.1:g.42917_42921del, NW_017363815.1:g.42919_42921del, NW_017363815.1:g.42920_42921del, NW_017363815.1:g.42921del, NW_017363815.1:g.42921dup, NW_017363815.1:g.42920_42921dup, NW_017363815.1:g.42919_42921dup

Select item 149089174713.

rs1490891747 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:89873526 (GRCh38)
6:90583245 (GRCh37)
Canonical SPDI:: NC_000006.12:89873525:T:C
Gene:: CASP8AP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.89873526T>C, NC_000006.11:g.90583245T>C, NW_017363815.1:g.71214T>C

Select item 149076950814.

rs1490769508 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:89864933 (GRCh38)
6:90574652 (GRCh37)
Canonical SPDI:: NC_000006.12:89864932:G:A
Gene:: CASP8AP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/1 (GnomAD)
HGVS:: NC_000006.12:g.89864933G>A, NC_000006.11:g.90574652G>A, NW_017363815.1:g.60278G>A

Select item 149072216315.

rs1490722163 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:89835334 (GRCh38)
6:90545053 (GRCh37)
Canonical SPDI:: NC_000006.12:89835333:G:A
Gene:: CASP8AP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.89835334G>A, NC_000006.11:g.90545053G>A, NW_017363815.1:g.30679G>A

Select item 149071672016.

rs1490716720 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 6:89836353 (GRCh38)
6:90546072 (GRCh37)
Canonical SPDI:: NC_000006.12:89836352:G:C,NC_000006.12:89836352:G:T
Gene:: CASP8AP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.89836353G>C, NC_000006.12:g.89836353G>T, NC_000006.11:g.90546072G>C, NC_000006.11:g.90546072G>T, NW_017363815.1:g.31698G>C, NW_017363815.1:g.31698G>T

Select item 149060300817.

rs1490603008 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:89844571 (GRCh38)
6:90554290 (GRCh37)
Canonical SPDI:: NC_000006.12:89844570:C:G
Gene:: CASP8AP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000312/2 (1000Genomes)
HGVS:: NC_000006.12:g.89844571C>G, NC_000006.11:g.90554290C>G, NW_017363815.1:g.39916C>G

Select item 149054992118.

rs1490549921 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:89835972 (GRCh38)
6:90545691 (GRCh37)
Canonical SPDI:: NC_000006.12:89835971:G:A
Gene:: CASP8AP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.89835972G>A, NC_000006.11:g.90545691G>A, NW_017363815.1:g.31317G>A

Select item 149036906819.

rs1490369068 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:89865946 (GRCh38)
6:90575665 (GRCh37)
Canonical SPDI:: NC_000006.12:89865945:T:C
Gene:: CASP8AP2 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000006.12:g.89865946T>C, NC_000006.11:g.90575665T>C, NW_017363815.1:g.61291T>C

Select item 149028406420.

rs1490284064 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:89848866 (GRCh38)
6:90558585 (GRCh37)
Canonical SPDI:: NC_000006.12:89848865:C:T
Gene:: CASP8AP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000169/2 (ALFA)
T=0.000076/10 (GnomAD)
HGVS:: NC_000006.12:g.89848866C>T, NC_000006.11:g.90558585C>T, NW_017363815.1:g.44211C>T

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