SNP Links for Gene (Select 4057) - SNP

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Select item 14915825731.

rs1491582573 has merged into rs71622508 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGAGAGAGAGAGAGAGAGAG>-,AG,AGAG,AGAGAG,AGAGAGAG,AGAGAGAGAG,AGAGAGAGAGAG,AGAGAGAGAGAGAG,AGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG [Show Flanks]
Chromosome:: 3:46441916 (GRCh38)
3:46483407 (GRCh37)
Canonical SPDI:: NC_000003.12:46441899:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAG,NC_000003.12:46441899:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAG,NC_000003.12:46441899:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAG,NC_000003.12:46441899:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAG,NC_000003.12:46441899:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAG,NC_000003.12:46441899:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000003.12:46441899:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000003.12:46441899:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000003.12:46441899:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000003.12:46441899:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000003.12:46441899:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000003.12:46441899:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000003.12:46441899:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000003.12:46441899:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000003.12:46441899:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000003.12:46441899:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG
Gene:: LTF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGAGAGAG=0./0 (ALFA)
HGVS:: NC_000003.12:g.46441900AG[8], NC_000003.12:g.46441900AG[9], NC_000003.12:g.46441900AG[10], NC_000003.12:g.46441900AG[11], NC_000003.12:g.46441900AG[12], NC_000003.12:g.46441900AG[13], NC_000003.12:g.46441900AG[14], NC_000003.12:g.46441900AG[15], NC_000003.12:g.46441900AG[16], NC_000003.12:g.46441900AG[17], NC_000003.12:g.46441900AG[19], NC_000003.12:g.46441900AG[20], NC_000003.12:g.46441900AG[21], NC_000003.12:g.46441900AG[22], NC_000003.12:g.46441900AG[23], NC_000003.12:g.46441900AG[24], NC_000003.11:g.46483391AG[8], NC_000003.11:g.46483391AG[9], NC_000003.11:g.46483391AG[10], NC_000003.11:g.46483391AG[11], NC_000003.11:g.46483391AG[12], NC_000003.11:g.46483391AG[13], NC_000003.11:g.46483391AG[14], NC_000003.11:g.46483391AG[15], NC_000003.11:g.46483391AG[16], NC_000003.11:g.46483391AG[17], NC_000003.11:g.46483391AG[19], NC_000003.11:g.46483391AG[20], NC_000003.11:g.46483391AG[21], NC_000003.11:g.46483391AG[22], NC_000003.11:g.46483391AG[23], NC_000003.11:g.46483391AG[24], NG_023257.2:g.48300CT[8], NG_023257.2:g.48300CT[9], NG_023257.2:g.48300CT[10], NG_023257.2:g.48300CT[11], NG_023257.2:g.48300CT[12], NG_023257.2:g.48300CT[13], NG_023257.2:g.48300CT[14], NG_023257.2:g.48300CT[15], NG_023257.2:g.48300CT[16], NG_023257.2:g.48300CT[17], NG_023257.2:g.48300CT[19], NG_023257.2:g.48300CT[20], NG_023257.2:g.48300CT[21], NG_023257.2:g.48300CT[22], NG_023257.2:g.48300CT[23], NG_023257.2:g.48300CT[24]

Select item 14915364722.

rs1491536472 has merged into rs10667876 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:46437337 (GRCh38)
3:46478828 (GRCh37)
Canonical SPDI:: NC_000003.12:46437320:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:46437320:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:46437320:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:46437320:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:46437320:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:46437320:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:46437320:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:46437320:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:46437320:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:46437320:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: LTF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.4595/2301 (1000Genomes)
HGVS:: NC_000003.12:g.46437337_46437338del, NC_000003.12:g.46437338del, NC_000003.12:g.46437338dup, NC_000003.12:g.46437337_46437338dup, NC_000003.12:g.46437336_46437338dup, NC_000003.12:g.46437335_46437338dup, NC_000003.12:g.46437334_46437338dup, NC_000003.12:g.46437333_46437338dup, NC_000003.12:g.46437330_46437338dup, NC_000003.12:g.46437329_46437338dup, NC_000003.11:g.46478828_46478829del, NC_000003.11:g.46478829del, NC_000003.11:g.46478829dup, NC_000003.11:g.46478828_46478829dup, NC_000003.11:g.46478827_46478829dup, NC_000003.11:g.46478826_46478829dup, NC_000003.11:g.46478825_46478829dup, NC_000003.11:g.46478824_46478829dup, NC_000003.11:g.46478821_46478829dup, NC_000003.11:g.46478820_46478829dup, NG_023257.2:g.52913_52914del, NG_023257.2:g.52914del, NG_023257.2:g.52914dup, NG_023257.2:g.52913_52914dup, NG_023257.2:g.52912_52914dup, NG_023257.2:g.52911_52914dup, NG_023257.2:g.52910_52914dup, NG_023257.2:g.52909_52914dup, NG_023257.2:g.52906_52914dup, NG_023257.2:g.52905_52914dup

Select item 14915256163.

rs1491525616 has merged into rs374266932 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGAGAGAGAGA>-,GA,GAGA,GAGAGA,GAGAGAGA,GAGAGAGAGA,GAGAGAGAGAGAGA,GAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGA [Show Flanks]
Chromosome:: 3:46472544 (GRCh38)
3:46514034 (GRCh37)
Canonical SPDI:: NC_000003.12:46472527:GAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGA,NC_000003.12:46472527:GAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGA,NC_000003.12:46472527:GAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGA,NC_000003.12:46472527:GAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGA,NC_000003.12:46472527:GAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGA,NC_000003.12:46472527:GAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000003.12:46472527:GAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000003.12:46472527:GAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000003.12:46472527:GAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA
Gene:: LTF (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGAGAGAGAGAGAGAGA=0./0 (ALFA)
-=0.025/1 (GENOME_DK)
HGVS:: NC_000003.12:g.46472528GA[8], NC_000003.12:g.46472528GA[9], NC_000003.12:g.46472528GA[10], NC_000003.12:g.46472528GA[11], NC_000003.12:g.46472528GA[12], NC_000003.12:g.46472528GA[13], NC_000003.12:g.46472528GA[15], NC_000003.12:g.46472528GA[16], NC_000003.12:g.46472528GA[17], NC_000003.11:g.46514018GA[8], NC_000003.11:g.46514018GA[9], NC_000003.11:g.46514018GA[10], NC_000003.11:g.46514018GA[11], NC_000003.11:g.46514018GA[12], NC_000003.11:g.46514018GA[13], NC_000003.11:g.46514018GA[15], NC_000003.11:g.46514018GA[16], NC_000003.11:g.46514018GA[17], NG_023257.2:g.17680TC[8], NG_023257.2:g.17680TC[9], NG_023257.2:g.17680TC[10], NG_023257.2:g.17680TC[11], NG_023257.2:g.17680TC[12], NG_023257.2:g.17680TC[13], NG_023257.2:g.17680TC[15], NG_023257.2:g.17680TC[16], NG_023257.2:g.17680TC[17]

Select item 14915194994.

rs1491519499 has merged into rs5848801 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:46467655 (GRCh38)
3:46509145 (GRCh37)
Canonical SPDI:: NC_000003.12:46467644:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:46467644:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:46467644:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:46467644:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:46467644:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:46467644:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:46467644:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:46467644:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:46467644:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:46467644:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:46467644:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:46467644:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:46467644:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:46467644:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:46467644:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:46467644:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:46467644:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:46467644:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: LTF (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000003.12:g.46467655_46467664del, NC_000003.12:g.46467656_46467664del, NC_000003.12:g.46467658_46467664del, NC_000003.12:g.46467659_46467664del, NC_000003.12:g.46467660_46467664del, NC_000003.12:g.46467661_46467664del, NC_000003.12:g.46467662_46467664del, NC_000003.12:g.46467663_46467664del, NC_000003.12:g.46467664del, NC_000003.12:g.46467664dup, NC_000003.12:g.46467663_46467664dup, NC_000003.12:g.46467662_46467664dup, NC_000003.12:g.46467661_46467664dup, NC_000003.12:g.46467660_46467664dup, NC_000003.12:g.46467659_46467664dup, NC_000003.12:g.46467657_46467664dup, NC_000003.12:g.46467655_46467664dup, NC_000003.12:g.46467650_46467664dup, NC_000003.11:g.46509145_46509154del, NC_000003.11:g.46509146_46509154del, NC_000003.11:g.46509148_46509154del, NC_000003.11:g.46509149_46509154del, NC_000003.11:g.46509150_46509154del, NC_000003.11:g.46509151_46509154del, NC_000003.11:g.46509152_46509154del, NC_000003.11:g.46509153_46509154del, NC_000003.11:g.46509154del, NC_000003.11:g.46509154dup, NC_000003.11:g.46509153_46509154dup, NC_000003.11:g.46509152_46509154dup, NC_000003.11:g.46509151_46509154dup, NC_000003.11:g.46509150_46509154dup, NC_000003.11:g.46509149_46509154dup, NC_000003.11:g.46509147_46509154dup, NC_000003.11:g.46509145_46509154dup, NC_000003.11:g.46509140_46509154dup, NG_023257.2:g.22581_22590del, NG_023257.2:g.22582_22590del, NG_023257.2:g.22584_22590del, NG_023257.2:g.22585_22590del, NG_023257.2:g.22586_22590del, NG_023257.2:g.22587_22590del, NG_023257.2:g.22588_22590del, NG_023257.2:g.22589_22590del, NG_023257.2:g.22590del, NG_023257.2:g.22590dup, NG_023257.2:g.22589_22590dup, NG_023257.2:g.22588_22590dup, NG_023257.2:g.22587_22590dup, NG_023257.2:g.22586_22590dup, NG_023257.2:g.22585_22590dup, NG_023257.2:g.22583_22590dup, NG_023257.2:g.22581_22590dup, NG_023257.2:g.22576_22590dup

Select item 14913778445.

rs1491377844 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 3:46482608 (GRCh38)
3:46524099 (GRCh37)
Canonical SPDI:: NC_000003.12:46482608:G:GG
Gene:: LTF (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
HGVS:: NC_000003.12:g.46482609dup, NC_000003.11:g.46524099dup, NG_023257.2:g.7626dup

Select item 14913654336.

rs1491365433 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTT [Show Flanks]
Chromosome:: 3:46467645 (GRCh38)
3:46509136 (GRCh37)
Canonical SPDI:: NC_000003.12:46467645:TTT:TTTCTTT
Gene:: LTF (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTCTTT=0.00051/6 (ALFA)
TTTC=0.00284/73 (GnomAD)
HGVS:: NC_000003.12:g.46467648_46467649insCTTT, NC_000003.11:g.46509138_46509139insCTTT, NG_023257.2:g.22589_22590insGAAA

Select item 14913477827.

rs1491347782 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->G
Chromosome:: no mapping
Canonical SPDI:

Select item 14913316628.

rs1491331662 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 3:46472555 (GRCh38)
3:46514045 (GRCh37)
Canonical SPDI:: NC_000003.12:46472554:AA:
Gene:: LTF (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000003.12:g.46472555_46472556del, NC_000003.11:g.46514045_46514046del, NG_023257.2:g.17679_17680del

Select item 14912061119.

rs1491206111 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 3:46482609 (GRCh38)
3:46524099 (GRCh37)
Canonical SPDI:: NC_000003.12:46482607:AGA:A
Gene:: LTF (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000003.12:g.46482609_46482610del, NC_000003.11:g.46524099_46524100del, NG_023257.2:g.7626_7627del

Select item 149109869710.

rs1491098697 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 3:46441899 (GRCh38)
3:46483390 (GRCh37)
Canonical SPDI:: NC_000003.12:46441898:CA:
Gene:: LTF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.46441899_46441900del, NC_000003.11:g.46483390_46483391del, NG_023257.2:g.48335_48336del

Select item 149105070211.

rs1491050702 [Homo sapiens]

Variant type:: INS
Alleles:: ->AG [Show Flanks]
Chromosome:: 3:46482717 (GRCh38)
3:46524208 (GRCh37)
Canonical SPDI:: NC_000003.12:46482717::AG
Gene:: LTF (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: AG=0.0001/2 (TOMMO)
HGVS:: NC_000003.12:g.46482717_46482718insAG, NC_000003.11:g.46524207_46524208insAG, NG_023257.2:g.7517_7518insCT

Select item 149104131812.

rs1491041318 has merged into rs34825595 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTGTGTGTGTGTGTGTG>-,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 3:46472509 (GRCh38)
3:46513999 (GRCh37)
Canonical SPDI:: NC_000003.12:46472488:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTG,NC_000003.12:46472488:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:46472488:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:46472488:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:46472488:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:46472488:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:46472488:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:46472488:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:46472488:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:46472488:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:46472488:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:46472488:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:46472488:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:46472488:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:46472488:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:46472488:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:46472488:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:46472488:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:46472488:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:46472488:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
Gene:: LTF (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTGTGTGTG=0./0 (ALFA)
GT=0.3484/1292 (TWINSUK)
GT=0.3495/1347 (ALSPAC)
HGVS:: NC_000003.12:g.46472489TG[10], NC_000003.12:g.46472489TG[12], NC_000003.12:g.46472489TG[13], NC_000003.12:g.46472489TG[14], NC_000003.12:g.46472489TG[15], NC_000003.12:g.46472489TG[16], NC_000003.12:g.46472489TG[17], NC_000003.12:g.46472489TG[18], NC_000003.12:g.46472489TG[19], NC_000003.12:g.46472489TG[21], NC_000003.12:g.46472489TG[22], NC_000003.12:g.46472489TG[23], NC_000003.12:g.46472489TG[24], NC_000003.12:g.46472489TG[25], NC_000003.12:g.46472489TG[26], NC_000003.12:g.46472489TG[27], NC_000003.12:g.46472489TG[28], NC_000003.12:g.46472489TG[29], NC_000003.12:g.46472489TG[30], NC_000003.12:g.46472489TG[31], NC_000003.11:g.46513979TG[10], NC_000003.11:g.46513979TG[12], NC_000003.11:g.46513979TG[13], NC_000003.11:g.46513979TG[14], NC_000003.11:g.46513979TG[15], NC_000003.11:g.46513979TG[16], NC_000003.11:g.46513979TG[17], NC_000003.11:g.46513979TG[18], NC_000003.11:g.46513979TG[19], NC_000003.11:g.46513979TG[21], NC_000003.11:g.46513979TG[22], NC_000003.11:g.46513979TG[23], NC_000003.11:g.46513979TG[24], NC_000003.11:g.46513979TG[25], NC_000003.11:g.46513979TG[26], NC_000003.11:g.46513979TG[27], NC_000003.11:g.46513979TG[28], NC_000003.11:g.46513979TG[29], NC_000003.11:g.46513979TG[30], NC_000003.11:g.46513979TG[31], NG_023257.2:g.17707CA[10], NG_023257.2:g.17707CA[12], NG_023257.2:g.17707CA[13], NG_023257.2:g.17707CA[14], NG_023257.2:g.17707CA[15], NG_023257.2:g.17707CA[16], NG_023257.2:g.17707CA[17], NG_023257.2:g.17707CA[18], NG_023257.2:g.17707CA[19], NG_023257.2:g.17707CA[21], NG_023257.2:g.17707CA[22], NG_023257.2:g.17707CA[23], NG_023257.2:g.17707CA[24], NG_023257.2:g.17707CA[25], NG_023257.2:g.17707CA[26], NG_023257.2:g.17707CA[27], NG_023257.2:g.17707CA[28], NG_023257.2:g.17707CA[29], NG_023257.2:g.17707CA[30], NG_023257.2:g.17707CA[31]

Select item 149100419513.

rs1491004195 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:46476975 (GRCh38)
3:46518465 (GRCh37)
Canonical SPDI:: NC_000003.12:46476974:T:A
Gene:: LTF (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.46476975T>A, NC_000003.11:g.46518465T>A, NG_023257.2:g.13260A>T

Select item 149093126514.

rs1490931265 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:46459952 (GRCh38)
3:46501442 (GRCh37)
Canonical SPDI:: NC_000003.12:46459951:G:A
Gene:: LTF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.46459952G>A, NC_000003.11:g.46501442G>A, NG_023257.2:g.30283C>T

Select item 149080809015.

rs1490808090 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:46436953 (GRCh38)
3:46478444 (GRCh37)
Canonical SPDI:: NC_000003.12:46436952:A:C
Gene:: LTF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.46436953A>C, NC_000003.11:g.46478444A>C, NG_023257.2:g.53282T>G

Select item 149075633116.

rs1490756331 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:46439020 (GRCh38)
3:46480511 (GRCh37)
Canonical SPDI:: NC_000003.12:46439019:A:G
Gene:: LTF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.46439020A>G, NC_000003.11:g.46480511A>G, NG_023257.2:g.51215T>C

Select item 149072573517.

rs1490725735 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:46441557 (GRCh38)
3:46483048 (GRCh37)
Canonical SPDI:: NC_000003.12:46441556:T:C
Gene:: LTF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.46441557T>C, NC_000003.11:g.46483048T>C, NG_023257.2:g.48678A>G

Select item 149066094118.

rs1490660941 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGAAAGAAAGAAGGAA>- [Show Flanks]
Chromosome:: 3:46482651 (GRCh38)
3:46524141 (GRCh37)
Canonical SPDI:: NC_000003.12:46482647:GAAAGAAAGAAAGAAGGAA:GAA
Gene:: LTF (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GAA=0.00008/1 (ALFA)
-=0.00065/61 (GnomAD)
HGVS:: NC_000003.12:g.46482651_46482666del, NC_000003.11:g.46524141_46524156del, NG_023257.2:g.7572_7587del

Select item 149056106519.

rs1490561065 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:46442373 (GRCh38)
3:46483864 (GRCh37)
Canonical SPDI:: NC_000003.12:46442372:C:T
Gene:: LTF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.46442373C>T, NC_000003.11:g.46483864C>T, NG_023257.2:g.47862G>A

Select item 149054016120.

rs1490540161 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:46475551 (GRCh38)
3:46517041 (GRCh37)
Canonical SPDI:: NC_000003.12:46475550:C:T
Gene:: LTF (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000084/1 (ALFA)
T=0.000079/11 (GnomAD)
HGVS:: NC_000003.12:g.46475551C>T, NC_000003.11:g.46517041C>T, NG_023257.2:g.14684G>A

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