SNP Links for Gene (Select 9208) - SNP

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Select item 14915821771.

rs1491582177 has merged into rs71870330 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:237734283 (GRCh38)
2:238642926 (GRCh37)
Canonical SPDI:: NC_000002.12:237734273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:237734273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:237734273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:237734273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:237734273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:237734273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:237734273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:237734273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:237734273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:237734273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:237734273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:237734273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:237734273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:237734273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:237734273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:237734273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:237734273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:237734273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:237734273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:237734273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:237734273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:237734273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:237734273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:237734273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:237734273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:237734273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:237734273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: LRRFIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.1635/630 (ALSPAC)
HGVS:: NC_000002.12:g.237734283_237734297del, NC_000002.12:g.237734285_237734297del, NC_000002.12:g.237734286_237734297del, NC_000002.12:g.237734287_237734297del, NC_000002.12:g.237734288_237734297del, NC_000002.12:g.237734289_237734297del, NC_000002.12:g.237734290_237734297del, NC_000002.12:g.237734291_237734297del, NC_000002.12:g.237734292_237734297del, NC_000002.12:g.237734293_237734297del, NC_000002.12:g.237734294_237734297del, NC_000002.12:g.237734295_237734297del, NC_000002.12:g.237734296_237734297del, NC_000002.12:g.237734297del, NC_000002.12:g.237734297dup, NC_000002.12:g.237734296_237734297dup, NC_000002.12:g.237734295_237734297dup, NC_000002.12:g.237734294_237734297dup, NC_000002.12:g.237734293_237734297dup, NC_000002.12:g.237734292_237734297dup, NC_000002.12:g.237734291_237734297dup, NC_000002.12:g.237734290_237734297dup, NC_000002.12:g.237734289_237734297dup, NC_000002.12:g.237734288_237734297dup, NC_000002.12:g.237734287_237734297dup, NC_000002.12:g.237734274_237734297dup, NC_000002.12:g.237734297_237734298insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.238642926_238642940del, NC_000002.11:g.238642928_238642940del, NC_000002.11:g.238642929_238642940del, NC_000002.11:g.238642930_238642940del, NC_000002.11:g.238642931_238642940del, NC_000002.11:g.238642932_238642940del, NC_000002.11:g.238642933_238642940del, NC_000002.11:g.238642934_238642940del, NC_000002.11:g.238642935_238642940del, NC_000002.11:g.238642936_238642940del, NC_000002.11:g.238642937_238642940del, NC_000002.11:g.238642938_238642940del, NC_000002.11:g.238642939_238642940del, NC_000002.11:g.238642940del, NC_000002.11:g.238642940dup, NC_000002.11:g.238642939_238642940dup, NC_000002.11:g.238642938_238642940dup, NC_000002.11:g.238642937_238642940dup, NC_000002.11:g.238642936_238642940dup, NC_000002.11:g.238642935_238642940dup, NC_000002.11:g.238642934_238642940dup, NC_000002.11:g.238642933_238642940dup, NC_000002.11:g.238642932_238642940dup, NC_000002.11:g.238642931_238642940dup, NC_000002.11:g.238642930_238642940dup, NC_000002.11:g.238642917_238642940dup, NC_000002.11:g.238642940_238642941insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14915773802.

rs1491577380 has merged into rs11313761 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCC>-,C,CC,CCCC,CCCCC [Show Flanks]
Chromosome:: 2:237663434 (GRCh38)
2:238572077 (GRCh37)
Canonical SPDI:: NC_000002.12:237663428:CCCCCCCC:CCCCC,NC_000002.12:237663428:CCCCCCCC:CCCCCC,NC_000002.12:237663428:CCCCCCCC:CCCCCCC,NC_000002.12:237663428:CCCCCCCC:CCCCCCCCC,NC_000002.12:237663428:CCCCCCCC:CCCCCCCCCC
Gene:: LRRFIP1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCC=0./0 (ALFA)
C=0.015678/263 (TOMMO)
C=0.024656/104 (1000Genomes)
C=0.149397/669 (Estonian)
C=0.16/96 (NorthernSweden)
C=0.175/7 (GENOME_DK)
C=0.176353/176 (GoNL)
C=0.208236/55118 (TOPMED)
HGVS:: NC_000002.12:g.237663434_237663436del, NC_000002.12:g.237663435_237663436del, NC_000002.12:g.237663436del, NC_000002.12:g.237663436dup, NC_000002.12:g.237663435_237663436dup, NC_000002.11:g.238572077_238572079del, NC_000002.11:g.238572078_238572079del, NC_000002.11:g.238572079del, NC_000002.11:g.238572079dup, NC_000002.11:g.238572078_238572079dup

Select item 14915644713.

rs1491564471 has merged into rs61685773 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:237771312 (GRCh38)
2:238679955 (GRCh37)
Canonical SPDI:: NC_000002.12:237771302:AAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000002.12:237771302:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:237771302:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:237771302:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:237771302:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:237771302:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:237771302:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:237771302:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:237771302:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:237771302:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:237771302:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:237771302:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LRRFIP1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.4099/2053 (1000Genomes)
HGVS:: NC_000002.12:g.237771312_237771320del, NC_000002.12:g.237771314_237771320del, NC_000002.12:g.237771315_237771320del, NC_000002.12:g.237771317_237771320del, NC_000002.12:g.237771318_237771320del, NC_000002.12:g.237771319_237771320del, NC_000002.12:g.237771320del, NC_000002.12:g.237771320dup, NC_000002.12:g.237771319_237771320dup, NC_000002.12:g.237771318_237771320dup, NC_000002.12:g.237771317_237771320dup, NC_000002.12:g.237771320_237771321insAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.238679955_238679963del, NC_000002.11:g.238679957_238679963del, NC_000002.11:g.238679958_238679963del, NC_000002.11:g.238679960_238679963del, NC_000002.11:g.238679961_238679963del, NC_000002.11:g.238679962_238679963del, NC_000002.11:g.238679963del, NC_000002.11:g.238679963dup, NC_000002.11:g.238679962_238679963dup, NC_000002.11:g.238679961_238679963dup, NC_000002.11:g.238679960_238679963dup, NC_000002.11:g.238679963_238679964insAAAAAAAAAAAAAAAAAAAAAA

Select item 14915238274.

rs1491523827 has merged into rs539733839 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCTTTCTT>-,TCTT,TCTTTCTTTCTT,TCTTTCTTTCTTTCTT [Show Flanks]
Chromosome:: 2:237666860 (GRCh38)
2:238575503 (GRCh37)
Canonical SPDI:: NC_000002.12:237666845:TTTCTTTCTTTCTTTCTTTCTT:TTTCTTTCTTTCTT,NC_000002.12:237666845:TTTCTTTCTTTCTTTCTTTCTT:TTTCTTTCTTTCTTTCTT,NC_000002.12:237666845:TTTCTTTCTTTCTTTCTTTCTT:TTTCTTTCTTTCTTTCTTTCTTTCTT,NC_000002.12:237666845:TTTCTTTCTTTCTTTCTTTCTT:TTTCTTTCTTTCTTTCTTTCTTTCTTTCTT
Gene:: LRRFIP1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTCTTTCTTTCTTTCTTTCTTTCTT=0./0 (ALFA)
TTTC=0.00399/20 (1000Genomes)
HGVS:: NC_000002.12:g.237666848TCTT[3], NC_000002.12:g.237666848TCTT[4], NC_000002.12:g.237666848TCTT[6], NC_000002.12:g.237666848TCTT[7], NC_000002.11:g.238575491TCTT[3], NC_000002.11:g.238575491TCTT[4], NC_000002.11:g.238575491TCTT[6], NC_000002.11:g.238575491TCTT[7]

Select item 14915181515.

rs1491518151 [Homo sapiens]

Variant type:: INS
Alleles:: ->ATGTGAGATC,ATGTGAGATCTAAAAGTCACAG,ATGTGAGATCTAAAAGTCACAGTCAAAGAAACAGAG,ATGTGAGATCTAAAAGTCACAGTCAAAGAAACAGAGAGTTGAG,ATGTGAGATCTAAAAGTCACAGTCAAAGAAACAGAGTTGAA,ATGTGAGATCTAAAAGTCACAGTCAAAGAAACAGAGTTGAATGGTGA,C [Show Flanks]
Chromosome:: 2:237655103 (GRCh38)
2:238563747 (GRCh37)
Canonical SPDI:: NC_000002.12:237655103::ATGTGAGATC,NC_000002.12:237655103::ATGTGAGATCTAAAAGTCACAG,NC_000002.12:237655103::ATGTGAGATCTAAAAGTCACAGTCAAAGAAACAGAG,NC_000002.12:237655103::ATGTGAGATCTAAAAGTCACAGTCAAAGAAACAGAGAGTTGAG,NC_000002.12:237655103::ATGTGAGATCTAAAAGTCACAGTCAAAGAAACAGAGTTGAA,NC_000002.12:237655103::ATGTGAGATCTAAAAGTCACAGTCAAAGAAACAGAGTTGAATGGTGA,NC_000002.12:237655103::C
Gene:: LRRFIP1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00014/7 (GnomAD)
HGVS:: NC_000002.12:g.237655103_237655104insATGTGAGATC, NC_000002.12:g.237655103_237655104insATGTGAGATCTAAAAGTCACAG, NC_000002.12:g.237655103_237655104insATGTGAGATCTAAAAGTCACAGTCAAAGAAACAGAG, NC_000002.12:g.237655103_237655104insATGTGAGATCTAAAAGTCACAGTCAAAGAAACAGAGAGTTGAG, NC_000002.12:g.237655103_237655104insATGTGAGATCTAAAAGTCACAGTCAAAGAAACAGAGTTGAA, NC_000002.12:g.237655103_237655104insATGTGAGATCTAAAAGTCACAGTCAAAGAAACAGAGTTGAATGGTGA, NC_000002.12:g.237655103_237655104insC, NC_000002.11:g.238563746_238563747insATGTGAGATC, NC_000002.11:g.238563746_238563747insATGTGAGATCTAAAAGTCACAG, NC_000002.11:g.238563746_238563747insATGTGAGATCTAAAAGTCACAGTCAAAGAAACAGAG, NC_000002.11:g.238563746_238563747insATGTGAGATCTAAAAGTCACAGTCAAAGAAACAGAGAGTTGAG, NC_000002.11:g.238563746_238563747insATGTGAGATCTAAAAGTCACAGTCAAAGAAACAGAGTTGAA, NC_000002.11:g.238563746_238563747insATGTGAGATCTAAAAGTCACAGTCAAAGAAACAGAGTTGAATGGTGA, NC_000002.11:g.238563746_238563747insC

Select item 14915121646.

rs1491512164 has merged into rs1305976663 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC [Show Flanks]
Chromosome:: 2:237771568 (GRCh38)
2:238680211 (GRCh37)
Canonical SPDI:: NC_000002.12:237771566:CCC:C,NC_000002.12:237771566:CCC:CC,NC_000002.12:237771566:CCC:CCCC
Gene:: LRRFIP1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.237771568_237771569del, NC_000002.12:g.237771569del, NC_000002.12:g.237771569dup, NC_000002.11:g.238680211_238680212del, NC_000002.11:g.238680212del, NC_000002.11:g.238680212dup

Select item 14914900337.

rs1491490033 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 2:237641883 (GRCh38)
2:238550527 (GRCh37)
Canonical SPDI:: NC_000002.12:237641883::A
Gene:: LRRFIP1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_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_000002.12:g.237641883_237641884insA, NC_000002.11:g.238550526_238550527insA

Select item 14914799748.

rs1491479974 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 2:237771551 (GRCh38)
2:238680194 (GRCh37)
Canonical SPDI:: NC_000002.12:237771550:TC:
Gene:: LRRFIP1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.237771551_237771552del, NC_000002.11:g.238680194_238680195del

Select item 14914715279.

rs1491471527 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: 2:237629468 (GRCh38)
2:238538112 (GRCh37)
Canonical SPDI:: NC_000002.12:237629468:T:TCT
Gene:: LRRFIP1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TCT=0./0 (ALFA)
HGVS:: NC_000002.12:g.237629469_237629470insCT, NC_000002.11:g.238538112_238538113insCT

Select item 149144297710.

rs1491442977 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:237687603 (GRCh38)
2:238596246 (GRCh37)
Canonical SPDI:: NC_000002.12:237687602:CA:
Gene:: LRRFIP1 (Varview), LOC124906128 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000002.12:g.237687603_237687604del, NC_000002.11:g.238596246_238596247del

Select item 149142962511.

rs1491429625 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 2:237663428 (GRCh38)
2:238572071 (GRCh37)
Canonical SPDI:: NC_000002.12:237663427:TC:
Gene:: LRRFIP1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000021/1 (GnomAD)
HGVS:: NC_000002.12:g.237663428_237663429del, NC_000002.11:g.238572071_238572072del

Select item 149142236212.

rs1491422362 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 2:237641883 (GRCh38)
2:238550526 (GRCh37)
Canonical SPDI:: NC_000002.12:237641882:TC:
Gene:: LRRFIP1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000021/3 (GnomAD)
-=0.000034/9 (TOPMED)
HGVS:: NC_000002.12:g.237641883_237641884del, NC_000002.11:g.238550526_238550527del

Select item 149140530213.

rs1491405302 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:237771302 (GRCh38)
2:238679945 (GRCh37)
Canonical SPDI:: NC_000002.12:237771301:CA:
Gene:: LRRFIP1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.000084/1 (ALFA)
-=0.000105/11 (GnomAD)
HGVS:: NC_000002.12:g.237771302_237771303del, NC_000002.11:g.238679945_238679946del

Select item 149140376514.

rs1491403765 has merged into rs58896300 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:237636111 (GRCh38)
2:238544754 (GRCh37)
Canonical SPDI:: NC_000002.12:237636097:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:237636097:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:237636097:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:237636097:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:237636097:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:237636097:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:237636097:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:237636097:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:237636097:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LRRFIP1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.4018/2012 (1000Genomes)
HGVS:: NC_000002.12:g.237636111_237636115del, NC_000002.12:g.237636112_237636115del, NC_000002.12:g.237636113_237636115del, NC_000002.12:g.237636114_237636115del, NC_000002.12:g.237636115del, NC_000002.12:g.237636115dup, NC_000002.12:g.237636114_237636115dup, NC_000002.12:g.237636113_237636115dup, NC_000002.12:g.237636108_237636115dup, NC_000002.11:g.238544754_238544758del, NC_000002.11:g.238544755_238544758del, NC_000002.11:g.238544756_238544758del, NC_000002.11:g.238544757_238544758del, NC_000002.11:g.238544758del, NC_000002.11:g.238544758dup, NC_000002.11:g.238544757_238544758dup, NC_000002.11:g.238544756_238544758dup, NC_000002.11:g.238544751_238544758dup

Select item 149140148015.

rs1491401480 has merged into rs1170742860 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTT>-,T,TT,TTTTT,TTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:237655114 (GRCh38)
2:238563757 (GRCh37)
Canonical SPDI:: NC_000002.12:237655102:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:237655102:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:237655102:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:237655102:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:237655102:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:237655102:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:237655102:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:237655102:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:237655102:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:237655102:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:237655102:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:237655102:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:237655102:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:237655102:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:237655102:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:237655102:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:237655102:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:237655102:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:237655102:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:237655102:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:237655102:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:237655102:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: LRRFIP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.000015/4 (TOPMED)
TTTTTTTTTTTTT=0.001866/1 (NorthernSweden)
HGVS:: NC_000002.12:g.237655114_237655128del, NC_000002.12:g.237655115_237655128del, NC_000002.12:g.237655116_237655128del, NC_000002.12:g.237655119_237655128del, NC_000002.12:g.237655120_237655128del, NC_000002.12:g.237655123_237655128del, NC_000002.12:g.237655125_237655128del, NC_000002.12:g.237655126_237655128del, NC_000002.12:g.237655127_237655128del, NC_000002.12:g.237655128del, NC_000002.12:g.237655128dup, NC_000002.12:g.237655127_237655128dup, NC_000002.12:g.237655126_237655128dup, NC_000002.12:g.237655125_237655128dup, NC_000002.12:g.237655124_237655128dup, NC_000002.12:g.237655123_237655128dup, NC_000002.12:g.237655122_237655128dup, NC_000002.12:g.237655121_237655128dup, NC_000002.12:g.237655120_237655128dup, NC_000002.12:g.237655119_237655128dup, NC_000002.12:g.237655117_237655128dup, NC_000002.12:g.237655116_237655128dup, NC_000002.11:g.238563757_238563771del, NC_000002.11:g.238563758_238563771del, NC_000002.11:g.238563759_238563771del, NC_000002.11:g.238563762_238563771del, NC_000002.11:g.238563763_238563771del, NC_000002.11:g.238563766_238563771del, NC_000002.11:g.238563768_238563771del, NC_000002.11:g.238563769_238563771del, NC_000002.11:g.238563770_238563771del, NC_000002.11:g.238563771del, NC_000002.11:g.238563771dup, NC_000002.11:g.238563770_238563771dup, NC_000002.11:g.238563769_238563771dup, NC_000002.11:g.238563768_238563771dup, NC_000002.11:g.238563767_238563771dup, NC_000002.11:g.238563766_238563771dup, NC_000002.11:g.238563765_238563771dup, NC_000002.11:g.238563764_238563771dup, NC_000002.11:g.238563763_238563771dup, NC_000002.11:g.238563762_238563771dup, NC_000002.11:g.238563760_238563771dup, NC_000002.11:g.238563759_238563771dup

Select item 149137244016.

rs1491372440 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 2:237779894 (GRCh38)
2:238688537 (GRCh37)
Canonical SPDI:: NC_000002.12:237779893:TC:
Gene:: LRRFIP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.237779894_237779895del, NC_000002.11:g.238688537_238688538del, XM_005246141.5:c.*362_*363del, XM_005246141.4:c.*362_*363del, XM_005246141.3:c.*362_*363del, XM_005246141.2:c.*362_*363del, XM_005246141.1:c.*362_*363del, XM_017005257.3:c.*362_*363del, XM_017005257.2:c.*362_*363del, XM_017005257.1:c.*362_*363del, XM_017005260.3:c.*362_*363del, XM_017005260.2:c.*362_*363del, XM_017005260.1:c.*362_*363del, XM_017005262.3:c.*362_*363del, XM_017005262.2:c.*362_*363del, XM_017005262.1:c.*362_*363del, XM_017005263.3:c.*362_*363del, XM_017005263.2:c.*362_*363del, XM_017005263.1:c.*362_*363del, XM_005246142.3:c.*362_*363del, XM_005246142.2:c.*362_*363del, XM_005246142.1:c.*362_*363del, NM_001137550.2:c.*362_*363del, NM_001137550.1:c.*362_*363del, NM_001137551.2:c.*362_*363del, NM_001137551.1:c.*362_*363del, XM_047446326.1:c.*362_*363del, XM_047446327.1:c.*362_*363del, XM_047446328.1:c.*362_*363del, XM_047446329.1:c.*362_*363del, XM_047446330.1:c.*362_*363del, XM_047446331.1:c.*362_*363del, NM_032674.1:c.*362_*363del

Select item 149135594817.

rs1491355948 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:237753790 (GRCh38)
2:238662433 (GRCh37)
Canonical SPDI:: NC_000002.12:237753789:CA:
Gene:: LRRFIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00034/4 (ALFA)
HGVS:: NC_000002.12:g.237753790_237753791del, NC_000002.11:g.238662433_238662434del

Select item 149132954018.

rs1491329540 has merged into rs10645424 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:237641510 (GRCh38)
2:238550153 (GRCh37)
Canonical SPDI:: NC_000002.12:237641496:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:237641496:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:237641496:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:237641496:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:237641496:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:237641496:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:237641496:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:237641496:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:237641496:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:237641496:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:237641496:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:237641496:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LRRFIP1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.1434/718 (1000Genomes)
HGVS:: NC_000002.12:g.237641510_237641515del, NC_000002.12:g.237641511_237641515del, NC_000002.12:g.237641512_237641515del, NC_000002.12:g.237641513_237641515del, NC_000002.12:g.237641514_237641515del, NC_000002.12:g.237641515del, NC_000002.12:g.237641515dup, NC_000002.12:g.237641514_237641515dup, NC_000002.12:g.237641513_237641515dup, NC_000002.12:g.237641512_237641515dup, NC_000002.12:g.237641511_237641515dup, NC_000002.12:g.237641505_237641515dup, NC_000002.11:g.238550153_238550158del, NC_000002.11:g.238550154_238550158del, NC_000002.11:g.238550155_238550158del, NC_000002.11:g.238550156_238550158del, NC_000002.11:g.238550157_238550158del, NC_000002.11:g.238550158del, NC_000002.11:g.238550158dup, NC_000002.11:g.238550157_238550158dup, NC_000002.11:g.238550156_238550158dup, NC_000002.11:g.238550155_238550158dup, NC_000002.11:g.238550154_238550158dup, NC_000002.11:g.238550148_238550158dup

Select item 149131110219.

rs1491311102 has merged into rs35206141 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
Chromosome:: 2:237628444 (GRCh38)
2:238537087 (GRCh37)
Canonical SPDI:: NC_000002.12:237628435:TTTTTTTTTTT:TTTTTTTT,NC_000002.12:237628435:TTTTTTTTTTT:TTTTTTTTT,NC_000002.12:237628435:TTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:237628435:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:237628435:TTTTTTTTTTT:TTTTTTTTTTTTT
Gene:: LRRFIP1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.45/18 (GENOME_DK)
-=0.455027/120441 (TOPMED)
-=0.457389/1696 (TWINSUK)
-=0.458744/1768 (ALSPAC)
-=0.463259/2320 (1000Genomes)
TT=0.493333/296 (NorthernSweden)
HGVS:: NC_000002.12:g.237628444_237628446del, NC_000002.12:g.237628445_237628446del, NC_000002.12:g.237628446del, NC_000002.12:g.237628446dup, NC_000002.12:g.237628445_237628446dup, NC_000002.11:g.238537087_238537089del, NC_000002.11:g.238537088_238537089del, NC_000002.11:g.238537089del, NC_000002.11:g.238537089dup, NC_000002.11:g.238537088_238537089dup

Select item 149129439320.

rs1491294393 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 2:237779894 (GRCh38)
2:238688538 (GRCh37)
Canonical SPDI:: NC_000002.12:237779894:C:CC
Gene:: LRRFIP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.000029/4 (GnomAD)
HGVS:: NC_000002.12:g.237779895dup, NC_000002.11:g.238688538dup, XM_005246141.5:c.*363dup, XM_005246141.4:c.*363dup, XM_005246141.3:c.*363dup, XM_005246141.2:c.*363dup, XM_005246141.1:c.*363dup, XM_017005257.3:c.*363dup, XM_017005257.2:c.*363dup, XM_017005257.1:c.*363dup, XM_017005260.3:c.*363dup, XM_017005260.2:c.*363dup, XM_017005260.1:c.*363dup, XM_017005262.3:c.*363dup, XM_017005262.2:c.*363dup, XM_017005262.1:c.*363dup, XM_017005263.3:c.*363dup, XM_017005263.2:c.*363dup, XM_017005263.1:c.*363dup, XM_005246142.3:c.*363dup, XM_005246142.2:c.*363dup, XM_005246142.1:c.*363dup, NM_001137550.2:c.*363dup, NM_001137550.1:c.*363dup, NM_001137551.2:c.*363dup, NM_001137551.1:c.*363dup, XM_047446326.1:c.*363dup, XM_047446327.1:c.*363dup, XM_047446328.1:c.*363dup, XM_047446329.1:c.*363dup, XM_047446330.1:c.*363dup, XM_047446331.1:c.*363dup, NM_032674.1:c.*363dup

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