SNP Links for Gene (Select 254240) - SNP

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Select item 14915459581.

rs1491545958 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 22:32420317 (GRCh38)
22:32816304 (GRCh37)
Canonical SPDI:: NC_000022.11:32420316:CA:
Gene:: BPIFC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000022.11:g.32420317_32420318del, NC_000022.10:g.32816304_32816305del

Select item 14915141132.

rs1491514113 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 22:32465494 (GRCh38)
22:32861481 (GRCh37)
Canonical SPDI:: NC_000022.11:32465493:GT:
Gene:: BPIFC (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000022.11:g.32465494_32465495del, NC_000022.10:g.32861481_32861482del

Select item 14915024033.

rs1491502403 has merged into rs34168726 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 22:32453949 (GRCh38)
22:32849936 (GRCh37)
Canonical SPDI:: NC_000022.11:32453942:AAAAAAAAAAA:AAAAAA,NC_000022.11:32453942:AAAAAAAAAAA:AAAAAAA,NC_000022.11:32453942:AAAAAAAAAAA:AAAAAAAA,NC_000022.11:32453942:AAAAAAAAAAA:AAAAAAAAA,NC_000022.11:32453942:AAAAAAAAAAA:AAAAAAAAAA,NC_000022.11:32453942:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000022.11:32453942:AAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:32453942:AAAAAAAAAAA:AAAAAAAAAAAAAA
Gene:: BPIFC (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
-=0.183946/110 (NorthernSweden)
-=0.259885/68789 (TOPMED)
HGVS:: NC_000022.11:g.32453949_32453953del, NC_000022.11:g.32453950_32453953del, NC_000022.11:g.32453951_32453953del, NC_000022.11:g.32453952_32453953del, NC_000022.11:g.32453953del, NC_000022.11:g.32453953dup, NC_000022.11:g.32453952_32453953dup, NC_000022.11:g.32453951_32453953dup, NC_000022.10:g.32849936_32849940del, NC_000022.10:g.32849937_32849940del, NC_000022.10:g.32849938_32849940del, NC_000022.10:g.32849939_32849940del, NC_000022.10:g.32849940del, NC_000022.10:g.32849940dup, NC_000022.10:g.32849939_32849940dup, NC_000022.10:g.32849938_32849940dup

Select item 14914540094.

rs1491454009 [Homo sapiens]

Variant type:: INS
Alleles:: ->T,TT [Show Flanks]
Chromosome:: 22:32424692 (GRCh38)
22:32820680 (GRCh37)
Canonical SPDI:: NC_000022.11:32424692::T,NC_000022.11:32424692::TT
Gene:: BPIFC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: TT=0.00809/12 (Korea1K)
TT=0.00845/117 (TOMMO)
TT=0.02016/10 (NorthernSweden)
HGVS:: NC_000022.11:g.32424692_32424693insT, NC_000022.11:g.32424692_32424693insTT, NC_000022.10:g.32820679_32820680insT, NC_000022.10:g.32820679_32820680insTT

Select item 14914355325.

rs1491435532 has merged into rs562738086 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT [Show Flanks]
Chromosome:: 22:32465504 (GRCh38)
22:32861491 (GRCh37)
Canonical SPDI:: NC_000022.11:32465494:TTTTTTTTTTTTT:TTTTTTTTT,NC_000022.11:32465494:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000022.11:32465494:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000022.11:32465494:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000022.11:32465494:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000022.11:32465494:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000022.11:32465494:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
Gene:: BPIFC (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.43111/2159 (1000Genomes)
HGVS:: NC_000022.11:g.32465504_32465507del, NC_000022.11:g.32465505_32465507del, NC_000022.11:g.32465506_32465507del, NC_000022.11:g.32465507del, NC_000022.11:g.32465507dup, NC_000022.11:g.32465506_32465507dup, NC_000022.11:g.32465505_32465507dup, NC_000022.10:g.32861491_32861494del, NC_000022.10:g.32861492_32861494del, NC_000022.10:g.32861493_32861494del, NC_000022.10:g.32861494del, NC_000022.10:g.32861494dup, NC_000022.10:g.32861493_32861494dup, NC_000022.10:g.32861492_32861494dup

Select item 14914249176.

rs1491424917 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 22:32424692 (GRCh38)
22:32820679 (GRCh37)
Canonical SPDI:: NC_000022.11:32424691:CC:
Gene:: BPIFC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000022.11:g.32424692_32424693del, NC_000022.10:g.32820679_32820680del

Select item 14914140307.

rs1491414030 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TT [Show Flanks]
Chromosome:: 22:32434081 (GRCh38)
22:32830069 (GRCh37)
Canonical SPDI:: NC_000022.11:32434081:TT:TTTT
Gene:: BPIFC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0.00062/10 (ALFA)
TT=0.00007/1 (TOMMO)
TT=0.00076/43 (GnomAD)
HGVS:: NC_000022.11:g.32434082_32434083dup, NC_000022.10:g.32830069_32830070dup

Select item 14914123668.

rs1491412366 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTC [Show Flanks]
Chromosome:: 22:32424762 (GRCh38)
22:32820750 (GRCh37)
Canonical SPDI:: NC_000022.11:32424762:TC:TCCTC
Gene:: BPIFC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TCCTC=0.00034/4 (ALFA)
TCC=0.00021/15 (GnomAD)
HGVS:: NC_000022.11:g.32424764_32424765insCTC, NC_000022.10:g.32820751_32820752insCTC

Select item 14913992119.

rs1491399211 has merged into rs1051940782 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 22:32420332 (GRCh38)
22:32816319 (GRCh37)
Canonical SPDI:: NC_000022.11:32420317:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:32420317:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:32420317:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:32420317:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:32420317:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000022.11:32420317:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000022.11:32420317:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: BPIFC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.02349/14 (NorthernSweden)
HGVS:: NC_000022.11:g.32420332_32420335del, NC_000022.11:g.32420333_32420335del, NC_000022.11:g.32420334_32420335del, NC_000022.11:g.32420335del, NC_000022.11:g.32420335dup, NC_000022.11:g.32420334_32420335dup, NC_000022.11:g.32420333_32420335dup, NC_000022.10:g.32816319_32816322del, NC_000022.10:g.32816320_32816322del, NC_000022.10:g.32816321_32816322del, NC_000022.10:g.32816322del, NC_000022.10:g.32816322dup, NC_000022.10:g.32816321_32816322dup, NC_000022.10:g.32816320_32816322dup

Select item 149139399410.

rs1491393994 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 22:32423576 (GRCh38)
22:32819564 (GRCh37)
Canonical SPDI:: NC_000022.11:32423576::T
Gene:: BPIFC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.021739/13 (NorthernSweden)
T=0.035519/65 (Korea1K)
T=0.037697/629 (TOMMO)
T=0.055878/6856 (GnomAD)
HGVS:: NC_000022.11:g.32423576_32423577insT, NC_000022.10:g.32819563_32819564insT

Select item 149138279011.

rs1491382790 has merged into rs568493905 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGCG>-,CG,CGCGCG [Show Flanks]
Chromosome:: 22:32428274 (GRCh38)
22:32824261 (GRCh37)
Canonical SPDI:: NC_000022.11:32428268:GCGCGCGCG:GCGCG,NC_000022.11:32428268:GCGCGCGCG:GCGCGCG,NC_000022.11:32428268:GCGCGCGCG:GCGCGCGCGCG
Gene:: BPIFC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCGCGCG=0./0 (ALFA)
GC=0.0014/7 (1000Genomes)
HGVS:: NC_000022.11:g.32428270CG[2], NC_000022.11:g.32428270CG[3], NC_000022.11:g.32428270CG[5], NC_000022.10:g.32824257CG[2], NC_000022.10:g.32824257CG[3], NC_000022.10:g.32824257CG[5]

Select item 149136959212.

rs1491369592 has merged into rs10628834 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATAT>-,ATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT [Show Flanks]
Chromosome:: 22:32434092 (GRCh38)
22:32830079 (GRCh37)
Canonical SPDI:: NC_000022.11:32434082:TATATATATATATAT:TATATATAT,NC_000022.11:32434082:TATATATATATATAT:TATATATATATAT,NC_000022.11:32434082:TATATATATATATAT:TATATATATATATATAT,NC_000022.11:32434082:TATATATATATATAT:TATATATATATATATATAT,NC_000022.11:32434082:TATATATATATATAT:TATATATATATATATATATAT,NC_000022.11:32434082:TATATATATATATAT:TATATATATATATATATATATAT,NC_000022.11:32434082:TATATATATATATAT:TATATATATATATATATATATATAT,NC_000022.11:32434082:TATATATATATATAT:TATATATATATATATATATATATATAT,NC_000022.11:32434082:TATATATATATATAT:TATATATATATATATATATATATATATAT
Gene:: BPIFC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATAT=0./0 (ALFA)
-=0.3947/15 (GENOME_DK)
HGVS:: NC_000022.11:g.32434084AT[4], NC_000022.11:g.32434084AT[6], NC_000022.11:g.32434084AT[8], NC_000022.11:g.32434084AT[9], NC_000022.11:g.32434084AT[10], NC_000022.11:g.32434084AT[11], NC_000022.11:g.32434084AT[12], NC_000022.11:g.32434084AT[13], NC_000022.11:g.32434084AT[14], NC_000022.10:g.32830071AT[4], NC_000022.10:g.32830071AT[6], NC_000022.10:g.32830071AT[8], NC_000022.10:g.32830071AT[9], NC_000022.10:g.32830071AT[10], NC_000022.10:g.32830071AT[11], NC_000022.10:g.32830071AT[12], NC_000022.10:g.32830071AT[13], NC_000022.10:g.32830071AT[14]

Select item 149134558313.

rs1491345583 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 22:32420335 (GRCh38)
22:32816323 (GRCh37)
Canonical SPDI:: NC_000022.11:32420335::G
Gene:: BPIFC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00002/1 (GnomAD)
HGVS:: NC_000022.11:g.32420335_32420336insG, NC_000022.10:g.32816322_32816323insG

Select item 149132119814.

rs1491321198 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACACACACACACCC,ACACACACACCC,ACACACACCC,ACACACCC,ACACCC,ACCC [Show Flanks]
Chromosome:: 22:32464681 (GRCh38)
22:32860669 (GRCh37)
Canonical SPDI:: NC_000022.11:32464681:C:CACACACACACACCC,NC_000022.11:32464681:C:CACACACACACCC,NC_000022.11:32464681:C:CACACACACCC,NC_000022.11:32464681:C:CACACACCC,NC_000022.11:32464681:C:CACACCC,NC_000022.11:32464681:C:CACCC
Gene:: BPIFC (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACCC=0./0 (ALFA)
CACACC=0.0025/16 (1000Genomes)
HGVS:: NC_000022.11:g.32464682CA[6]CCC[1], NC_000022.11:g.32464682CA[5]CCC[1], NC_000022.11:g.32464682CA[4]CCC[1], NC_000022.11:g.32464682CA[3]CCC[1], NC_000022.11:g.32464682CA[2]CCC[1], NC_000022.11:g.32464682_32464683insACCC, NC_000022.10:g.32860669CA[6]CCC[1], NC_000022.10:g.32860669CA[5]CCC[1], NC_000022.10:g.32860669CA[4]CCC[1], NC_000022.10:g.32860669CA[3]CCC[1], NC_000022.10:g.32860669CA[2]CCC[1], NC_000022.10:g.32860669_32860670insACCC

Select item 149130358615.

rs1491303586 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 22:32419803 (GRCh38)
22:32815790 (GRCh37)
Canonical SPDI:: NC_000022.11:32419802:CA:
Gene:: BPIFC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00658/78 (ALFA)
-=0.00141/23 (TOMMO)
HGVS:: NC_000022.11:g.32419803_32419804del, NC_000022.10:g.32815790_32815791del

Select item 149129401416.

rs1491294014 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 22:32424641 (GRCh38)
22:32820629 (GRCh37)
Canonical SPDI:: NC_000022.11:32424641:C:CC
Gene:: BPIFC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
HGVS:: NC_000022.11:g.32424642dup, NC_000022.10:g.32820629dup

Select item 149127181717.

rs1491271817 has merged into rs34028436 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 22:32428262 (GRCh38)
22:32824249 (GRCh37)
Canonical SPDI:: NC_000022.11:32428250:GTGTGTGTGTGTGTGTGTG:GTGTGTGTGTG,NC_000022.11:32428250:GTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTG,NC_000022.11:32428250:GTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTG,NC_000022.11:32428250:GTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTG,NC_000022.11:32428250:GTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG,NC_000022.11:32428250:GTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTG,NC_000022.11:32428250:GTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTG
Gene:: BPIFC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTG=0./0 (ALFA)
-=0.1551/773 (1000Genomes)
-=0.22211/856 (ALSPAC)
HGVS:: NC_000022.11:g.32428252TG[5], NC_000022.11:g.32428252TG[6], NC_000022.11:g.32428252TG[7], NC_000022.11:g.32428252TG[8], NC_000022.11:g.32428252TG[10], NC_000022.11:g.32428252TG[11], NC_000022.11:g.32428252TG[12], NC_000022.10:g.32824239TG[5], NC_000022.10:g.32824239TG[6], NC_000022.10:g.32824239TG[7], NC_000022.10:g.32824239TG[8], NC_000022.10:g.32824239TG[10], NC_000022.10:g.32824239TG[11], NC_000022.10:g.32824239TG[12]

Select item 149122846618.

rs1491228466 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 22:32428250 (GRCh38)
22:32824237 (GRCh37)
Canonical SPDI:: NC_000022.11:32428249:CG:
Gene:: BPIFC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000026/3 (GnomAD)
HGVS:: NC_000022.11:g.32428250_32428251del, NC_000022.10:g.32824237_32824238del

Select item 149119443519.

rs1491194435 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 22:32445712 (GRCh38)
22:32841699 (GRCh37)
Canonical SPDI:: NC_000022.11:32445711:TG:
Gene:: BPIFC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000155/16 (ExAC)
HGVS:: NC_000022.11:g.32445712_32445713del, NC_000022.10:g.32841699_32841700del

Select item 149116560620.

rs1491165606 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 22:32434081 (GRCh38)
22:32830068 (GRCh37)
Canonical SPDI:: NC_000022.11:32434080:GT:
Gene:: BPIFC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.32434081_32434082del, NC_000022.10:g.32830068_32830069del

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