SNP Links for Gene (Select 317716) - SNP

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Select item 14915308781.

rs1491530878 has merged into rs11467315 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCC>-,C,CC,CCC,CCCCC,CCCCCC,CCCCCCC [Show Flanks]
Chromosome:: 20:33209655 (GRCh38)
20:31797461 (GRCh37)
Canonical SPDI:: NC_000020.11:33209647:CCCCCCCCCCC:CCCCCCC,NC_000020.11:33209647:CCCCCCCCCCC:CCCCCCCC,NC_000020.11:33209647:CCCCCCCCCCC:CCCCCCCCC,NC_000020.11:33209647:CCCCCCCCCCC:CCCCCCCCCC,NC_000020.11:33209647:CCCCCCCCCCC:CCCCCCCCCCCC,NC_000020.11:33209647:CCCCCCCCCCC:CCCCCCCCCCCCC,NC_000020.11:33209647:CCCCCCCCCCC:CCCCCCCCCCCCCC
Gene:: BPIFA4P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCC=0.00007/1 (ALFA)
-=0.16214/812 (1000Genomes)
-=0.175/7 (GENOME_DK)
HGVS:: NC_000020.11:g.33209655_33209658del, NC_000020.11:g.33209656_33209658del, NC_000020.11:g.33209657_33209658del, NC_000020.11:g.33209658del, NC_000020.11:g.33209658dup, NC_000020.11:g.33209657_33209658dup, NC_000020.11:g.33209656_33209658dup, NC_000020.10:g.31797461_31797464del, NC_000020.10:g.31797462_31797464del, NC_000020.10:g.31797463_31797464del, NC_000020.10:g.31797464del, NC_000020.10:g.31797464dup, NC_000020.10:g.31797463_31797464dup, NC_000020.10:g.31797462_31797464dup

Select item 14911544932.

rs1491154493 has merged into rs11380265 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 20:33206450 (GRCh38)
20:31794256 (GRCh37)
Canonical SPDI:: NC_000020.11:33206440:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000020.11:33206440:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:33206440:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:33206440:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:33206440:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:33206440:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:33206440:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:33206440:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:33206440:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:33206440:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:33206440:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: BPIFA4P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000020.11:g.33206450_33206460del, NC_000020.11:g.33206456_33206460del, NC_000020.11:g.33206457_33206460del, NC_000020.11:g.33206458_33206460del, NC_000020.11:g.33206459_33206460del, NC_000020.11:g.33206460del, NC_000020.11:g.33206460dup, NC_000020.11:g.33206459_33206460dup, NC_000020.11:g.33206458_33206460dup, NC_000020.11:g.33206457_33206460dup, NC_000020.11:g.33206456_33206460dup, NC_000020.10:g.31794256_31794266del, NC_000020.10:g.31794262_31794266del, NC_000020.10:g.31794263_31794266del, NC_000020.10:g.31794264_31794266del, NC_000020.10:g.31794265_31794266del, NC_000020.10:g.31794266del, NC_000020.10:g.31794266dup, NC_000020.10:g.31794265_31794266dup, NC_000020.10:g.31794264_31794266dup, NC_000020.10:g.31794263_31794266dup, NC_000020.10:g.31794262_31794266dup

Select item 14910759233.

rs1491075923 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 20:33197066 (GRCh38)
20:31784872 (GRCh37)
Canonical SPDI:: NC_000020.11:33197063:CTCT:CT
Gene:: BPIFA4P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000035/1 (TOMMO)
-=0.000546/1 (Korea1K)
HGVS:: NC_000020.11:g.33197064CT[1], NC_000020.10:g.31784870CT[1]

Select item 14910685514.

rs1491068551 has merged into rs59103430 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 20:33206623 (GRCh38)
20:31794429 (GRCh37)
Canonical SPDI:: NC_000020.11:33206610:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:33206610:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:33206610:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:33206610:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:33206610:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:33206610:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:33206610:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:33206610:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:33206610:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:33206610:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:33206610:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:33206610:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:33206610:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:33206610:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:33206610:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: BPIFA4P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.375/3 (KOREAN)
HGVS:: NC_000020.11:g.33206623_33206630del, NC_000020.11:g.33206626_33206630del, NC_000020.11:g.33206627_33206630del, NC_000020.11:g.33206628_33206630del, NC_000020.11:g.33206629_33206630del, NC_000020.11:g.33206630del, NC_000020.11:g.33206630dup, NC_000020.11:g.33206629_33206630dup, NC_000020.11:g.33206628_33206630dup, NC_000020.11:g.33206627_33206630dup, NC_000020.11:g.33206626_33206630dup, NC_000020.11:g.33206625_33206630dup, NC_000020.11:g.33206624_33206630dup, NC_000020.11:g.33206623_33206630dup, NC_000020.11:g.33206622_33206630dup, NC_000020.10:g.31794429_31794436del, NC_000020.10:g.31794432_31794436del, NC_000020.10:g.31794433_31794436del, NC_000020.10:g.31794434_31794436del, NC_000020.10:g.31794435_31794436del, NC_000020.10:g.31794436del, NC_000020.10:g.31794436dup, NC_000020.10:g.31794435_31794436dup, NC_000020.10:g.31794434_31794436dup, NC_000020.10:g.31794433_31794436dup, NC_000020.10:g.31794432_31794436dup, NC_000020.10:g.31794431_31794436dup, NC_000020.10:g.31794430_31794436dup, NC_000020.10:g.31794429_31794436dup, NC_000020.10:g.31794428_31794436dup

Select item 14909088455.

rs1490908845 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 20:33193708 (GRCh38)
20:31781514 (GRCh37)
Canonical SPDI:: NC_000020.11:33193707:T:C,NC_000020.11:33193707:T:G
Gene:: BPIFA4P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
C=0.000546/1 (Korea1K)
HGVS:: NC_000020.11:g.33193708T>C, NC_000020.11:g.33193708T>G, NC_000020.10:g.31781514T>C, NC_000020.10:g.31781514T>G

Select item 14908916816.

rs1490891681 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 20:33206988 (GRCh38)
20:31794794 (GRCh37)
Canonical SPDI:: NC_000020.11:33206987:TT:T
Gene:: BPIFA4P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.33206989del, NC_000020.10:g.31794795del

Select item 14905241717.

rs1490524171 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:33201382 (GRCh38)
20:31789188 (GRCh37)
Canonical SPDI:: NC_000020.11:33201381:A:G
Gene:: BPIFA4P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.33201382A>G, NC_000020.10:g.31789188A>G

Select item 14904548928.

rs1490454892 [Homo sapiens]

Variant type:: DEL
Alleles:: TTTG>- [Show Flanks]
Chromosome:: 20:33206628 (GRCh38)
20:31794434 (GRCh37)
Canonical SPDI:: NC_000020.11:33206627:TTTG:
Gene:: BPIFA4P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000020.11:g.33206628_33206631del, NC_000020.10:g.31794434_31794437del

Select item 14902827509.

rs1490282750 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:33208517 (GRCh38)
20:31796323 (GRCh37)
Canonical SPDI:: NC_000020.11:33208516:T:C
Gene:: BPIFA4P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000020.11:g.33208517T>C, NC_000020.10:g.31796323T>C

Select item 149009200910.

rs1490092009 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:33194200 (GRCh38)
20:31782006 (GRCh37)
Canonical SPDI:: NC_000020.11:33194199:G:T
Gene:: BPIFA4P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.33194200G>T, NC_000020.10:g.31782006G>T

Select item 149005595411.

rs1490055954 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:33193255 (GRCh38)
20:31781061 (GRCh37)
Canonical SPDI:: NC_000020.11:33193254:G:A
Gene:: BPIFA4P (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.33193255G>A, NC_000020.10:g.31781061G>A

Select item 148968241712.

rs1489682417 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 20:33210294 (GRCh38)
20:31798100 (GRCh37)
Canonical SPDI:: NC_000020.11:33210293:C:A,NC_000020.11:33210293:C:T
Gene:: BPIFA4P (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.00006/1 (TOMMO)
HGVS:: NC_000020.11:g.33210294C>A, NC_000020.11:g.33210294C>T, NC_000020.10:g.31798100C>A, NC_000020.10:g.31798100C>T, NR_026760.1:n.1035C>A, NR_026760.1:n.1035C>T, NM_173859.1:c.*444C>A, NM_173859.1:c.*444C>T

Select item 148954081313.

rs1489540813 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:33193194 (GRCh38)
20:31781000 (GRCh37)
Canonical SPDI:: NC_000020.11:33193193:C:T
Gene:: BPIFA4P (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.33193194C>T, NC_000020.10:g.31781000C>T

Select item 148951918614.

rs1489519186 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 20:33200980 (GRCh38)
20:31788786 (GRCh37)
Canonical SPDI:: NC_000020.11:33200979:C:G,NC_000020.11:33200979:C:T
Gene:: BPIFA4P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000020.11:g.33200980C>G, NC_000020.11:g.33200980C>T, NC_000020.10:g.31788786C>G, NC_000020.10:g.31788786C>T

Select item 148944007615.

rs1489440076 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:33206664 (GRCh38)
20:31794470 (GRCh37)
Canonical SPDI:: NC_000020.11:33206663:G:A
Gene:: BPIFA4P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.33206664G>A, NC_000020.10:g.31794470G>A

Select item 148908182216.

rs1489081822 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 20:33205732 (GRCh38)
20:31793538 (GRCh37)
Canonical SPDI:: NC_000020.11:33205731:G:A,NC_000020.11:33205731:G:T
Gene:: BPIFA4P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000020.11:g.33205732G>A, NC_000020.11:g.33205732G>T, NC_000020.10:g.31793538G>A, NC_000020.10:g.31793538G>T

Select item 148893353217.

rs1488933532 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:33203441 (GRCh38)
20:31791247 (GRCh37)
Canonical SPDI:: NC_000020.11:33203440:G:T
Gene:: BPIFA4P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.33203441G>T, NC_000020.10:g.31791247G>T

Select item 148889991618.

rs1488899916 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:33202474 (GRCh38)
20:31790280 (GRCh37)
Canonical SPDI:: NC_000020.11:33202473:G:A
Gene:: BPIFA4P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (KOREAN)
A=0./0 (Korea1K)
A=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.33202474G>A, NC_000020.10:g.31790280G>A

Select item 148875432319.

rs1488754323 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:33195645 (GRCh38)
20:31783451 (GRCh37)
Canonical SPDI:: NC_000020.11:33195644:C:T
Gene:: BPIFA4P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.33195645C>T, NC_000020.10:g.31783451C>T

Select item 148856002220.

rs1488560022 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:33194216 (GRCh38)
20:31782022 (GRCh37)
Canonical SPDI:: NC_000020.11:33194215:T:C
Gene:: BPIFA4P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.00021/4 (TOMMO)
HGVS:: NC_000020.11:g.33194216T>C, NC_000020.10:g.31782022T>C

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