SNP Links for Nucleotide (Select 343790891) - SNP

Links from Nucleotide

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Select item 14915833031.

rs1491583303 has merged into rs35414686 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
Chromosome:: 1:65581460 (GRCh38)
1:66047143 (GRCh37)
Canonical SPDI:: NC_000001.11:65581449:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:65581449:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:65581449:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:65581449:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:65581449:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: LEPR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.25/10 (GENOME_DK)
-=0.282632/1048 (TWINSUK)
-=0.285937/1102 (ALSPAC)
-=0.291243/77089 (TOPMED)
-=0.291667/175 (NorthernSweden)
HGVS:: NC_000001.11:g.65581460_65581462del, NC_000001.11:g.65581461_65581462del, NC_000001.11:g.65581462del, NC_000001.11:g.65581462dup, NC_000001.11:g.65581461_65581462dup, NC_000001.10:g.66047143_66047145del, NC_000001.10:g.66047144_66047145del, NC_000001.10:g.66047145del, NC_000001.10:g.66047145dup, NC_000001.10:g.66047144_66047145dup, NG_015831.2:g.165896_165898del, NG_015831.2:g.165897_165898del, NG_015831.2:g.165898del, NG_015831.2:g.165898dup, NG_015831.2:g.165897_165898dup

Select item 14915818882.

rs1491581888 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:65488209 (GRCh38)
1:65953893 (GRCh37)
Canonical SPDI:: NC_000001.11:65488209::C
Gene:: LEPR (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
HGVS:: NC_000001.11:g.65488209_65488210insC, NC_000001.10:g.65953892_65953893insC, NG_015831.2:g.72645_72646insC

Select item 14915761843.

rs1491576184 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>-,CTATCT,CTCT [Show Flanks]
Chromosome:: 1:65518863 (GRCh38)
1:65984546 (GRCh37)
Canonical SPDI:: NC_000001.11:65518861:TCT:T,NC_000001.11:65518861:TCT:TCTATCT,NC_000001.11:65518861:TCT:TCTCT
Gene:: LEPR (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.002107/24 (ALFA)
-=0.018754/4964 (TOPMED)
-=0.027778/103 (TWINSUK)
-=0.035288/136 (ALSPAC)
-=0.04/24 (NorthernSweden)
HGVS:: NC_000001.11:g.65518863_65518864del, NC_000001.11:g.65518864_65518865insATCT, NC_000001.11:g.65518863_65518864dup, NC_000001.10:g.65984546_65984547del, NC_000001.10:g.65984547_65984548insATCT, NC_000001.10:g.65984546_65984547dup, NG_015831.2:g.103299_103300del, NG_015831.2:g.103300_103301insATCT, NG_015831.2:g.103299_103300dup

Select item 14915589504.

rs1491558950 has merged into rs55809705 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 1:65427009 (GRCh38)
1:65892692 (GRCh37)
Canonical SPDI:: NC_000001.11:65426997:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:65426997:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:65426997:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:65426997:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:65426997:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:65426997:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:65426997:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: LEPR (Varview), LEPROT (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.225/9 (GENOME_DK)
-=0.3446/204 (NorthernSweden)
-=0.3477/1340 (ALSPAC)
-=0.3565/1322 (TWINSUK)
-=0.4946/2477 (1000Genomes)
HGVS:: NC_000001.11:g.65427009_65427011del, NC_000001.11:g.65427010_65427011del, NC_000001.11:g.65427011del, NC_000001.11:g.65427011dup, NC_000001.11:g.65427010_65427011dup, NC_000001.11:g.65427008_65427011dup, NC_000001.11:g.65427007_65427011dup, NC_000001.10:g.65892692_65892694del, NC_000001.10:g.65892693_65892694del, NC_000001.10:g.65892694del, NC_000001.10:g.65892694dup, NC_000001.10:g.65892693_65892694dup, NC_000001.10:g.65892691_65892694dup, NC_000001.10:g.65892690_65892694dup, NG_015831.2:g.11445_11447del, NG_015831.2:g.11446_11447del, NG_015831.2:g.11447del, NG_015831.2:g.11447dup, NG_015831.2:g.11446_11447dup, NG_015831.2:g.11444_11447dup, NG_015831.2:g.11443_11447dup

Select item 14915514995.

rs1491551499 [Homo sapiens]

Variant type:: INS
Alleles:: ->ACACATATATTTCTTTTTTAAAAGA,ACACGT,ACAT,ACGT,AT,TTTTTTAAAA [Show Flanks]
Chromosome:: 1:65472445 (GRCh38)
1:65938129 (GRCh37)
Canonical SPDI:: NC_000001.11:65472445::ACACATATATTTCTTTTTTAAAAGA,NC_000001.11:65472445::ACACGT,NC_000001.11:65472445::ACAT,NC_000001.11:65472445::ACGT,NC_000001.11:65472445::AT,NC_000001.11:65472445::TTTTTTAAAA
Gene:: LEPR (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACAT=0./0 (ALFA)
ACAT=0.000004/1 (TOPMED)
ACAT=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.65472445_65472446insACACATATATTTCTTTTTTAAAAGA, NC_000001.11:g.65472445_65472446insACACGT, NC_000001.11:g.65472445_65472446insACAT, NC_000001.11:g.65472445_65472446insACGT, NC_000001.11:g.65472445_65472446insAT, NC_000001.11:g.65472445_65472446insTTTTTTAAAA, NC_000001.10:g.65938128_65938129insACACATATATTTCTTTTTTAAAAGA, NC_000001.10:g.65938128_65938129insACACGT, NC_000001.10:g.65938128_65938129insACAT, NC_000001.10:g.65938128_65938129insACGT, NC_000001.10:g.65938128_65938129insAT, NC_000001.10:g.65938128_65938129insTTTTTTAAAA, NG_015831.2:g.56881_56882insACACATATATTTCTTTTTTAAAAGA, NG_015831.2:g.56881_56882insACACGT, NG_015831.2:g.56881_56882insACAT, NG_015831.2:g.56881_56882insACGT, NG_015831.2:g.56881_56882insAT, NG_015831.2:g.56881_56882insTTTTTTAAAA

Select item 14915317966.

rs1491531796 has merged into rs1491442038 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 1:65488202 (GRCh38)
1:65953885 (GRCh37)
Canonical SPDI:: NC_000001.11:65488200:TTT:T,NC_000001.11:65488200:TTT:TT,NC_000001.11:65488200:TTT:TTTT,NC_000001.11:65488200:TTT:TTTTT
Gene:: LEPR (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00105/12 (ALFA)
-=0.00055/8 (TOMMO)
-=0.00297/11 (TWINSUK)
-=0.00363/14 (ALSPAC)
HGVS:: NC_000001.11:g.65488202_65488203del, NC_000001.11:g.65488203del, NC_000001.11:g.65488203dup, NC_000001.11:g.65488202_65488203dup, NC_000001.10:g.65953885_65953886del, NC_000001.10:g.65953886del, NC_000001.10:g.65953886dup, NC_000001.10:g.65953885_65953886dup, NG_015831.2:g.72638_72639del, NG_015831.2:g.72639del, NG_015831.2:g.72639dup, NG_015831.2:g.72638_72639dup

Select item 14915244947.

rs1491524494 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:65488337 (GRCh38)
1:65954021 (GRCh37)
Canonical SPDI:: NC_000001.11:65488337:C:CC
Gene:: LEPR (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.000009/1 (GnomAD)
HGVS:: NC_000001.11:g.65488338dup, NC_000001.10:g.65954021dup, NG_015831.2:g.72774dup

Select item 14915225418.

rs1491522541 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGTG [Show Flanks]
Chromosome:: 1:65507438 (GRCh38)
1:65973122 (GRCh37)
Canonical SPDI:: NC_000001.11:65507438:GTG:GTGCGTG
Gene:: LEPR (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GTGCGTG=0./0 (ALFA)
GTGC=0.00003/1 (GnomAD)
HGVS:: NC_000001.11:g.65507441_65507442insCGTG, NC_000001.10:g.65973124_65973125insCGTG, NG_015831.2:g.91877_91878insCGTG

Select item 14915015939.

rs1491501593 [Homo sapiens]

Variant type:: INS
Alleles:: ->CCCTCCCTCTCC [Show Flanks]
Chromosome:: 1:65488118 (GRCh38)
1:65953802 (GRCh37)
Canonical SPDI:: NC_000001.11:65488118::CCCTCCCTCTCC
Gene:: LEPR (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: CCCTCCCTCTCC=0.000988/128 (GnomAD)
HGVS:: NC_000001.11:g.65488118_65488119insCCCTCCCTCTCC, NC_000001.10:g.65953801_65953802insCCCTCCCTCTCC, NG_015831.2:g.72554_72555insCCCTCCCTCTCC

Select item 149149993110.

rs1491499931 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:65488185 (GRCh38)
1:65953869 (GRCh37)
Canonical SPDI:: NC_000001.11:65488185::C
Gene:: LEPR (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.00016/1 (1000Genomes)
C=0.00027/5 (GnomAD)
C=0.0096/17 (Korea1K)
C=0.01088/166 (TOMMO)
HGVS:: NC_000001.11:g.65488185_65488186insC, NC_000001.10:g.65953868_65953869insC, NG_015831.2:g.72621_72622insC

Select item 149149039911.

rs1491490399 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 1:65488338 (GRCh38)
1:65954021 (GRCh37)
Canonical SPDI:: NC_000001.11:65488336:TCT:T
Gene:: LEPR (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000169/2 (ALFA)
-=0.000018/2 (GnomAD)
HGVS:: NC_000001.11:g.65488338_65488339del, NC_000001.10:g.65954021_65954022del, NG_015831.2:g.72774_72775del

Select item 149148789512.

rs1491487895 has merged into rs778330312 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T [Show Flanks]
Chromosome:: 1:65488198 (GRCh38)
1:65953881 (GRCh37)
Canonical SPDI:: NC_000001.11:65488196:TTT:T,NC_000001.11:65488196:TTT:TT
Gene:: LEPR (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0129/153 (ALFA)
-=0.00015/3 (TOMMO)
-=0.00054/2 (TWINSUK)
-=0.00078/3 (ALSPAC)
-=0.01224/243 (GnomAD)
HGVS:: NC_000001.11:g.65488198_65488199del, NC_000001.11:g.65488199del, NC_000001.10:g.65953881_65953882del, NC_000001.10:g.65953882del, NG_015831.2:g.72634_72635del, NG_015831.2:g.72635del

Select item 149144203813.

rs1491442038 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 1:65488202 (GRCh38)
1:65953885 (GRCh37)
Canonical SPDI:: NC_000001.11:65488200:TTT:T,NC_000001.11:65488200:TTT:TT,NC_000001.11:65488200:TTT:TTTT,NC_000001.11:65488200:TTT:TTTTT
Gene:: LEPR (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00105/12 (ALFA)
-=0.00055/8 (TOMMO)
-=0.00297/11 (TWINSUK)
-=0.00363/14 (ALSPAC)
HGVS:: NC_000001.11:g.65488202_65488203del, NC_000001.11:g.65488203del, NC_000001.11:g.65488203dup, NC_000001.11:g.65488202_65488203dup, NC_000001.10:g.65953885_65953886del, NC_000001.10:g.65953886del, NC_000001.10:g.65953886dup, NC_000001.10:g.65953885_65953886dup, NG_015831.2:g.72638_72639del, NG_015831.2:g.72639del, NG_015831.2:g.72639dup, NG_015831.2:g.72638_72639dup

Select item 149143800814.

rs1491438008 has merged into rs1159617552 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:65438561 (GRCh38)
1:65904244 (GRCh37)
Canonical SPDI:: NC_000001.11:65438548:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:65438548:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:65438548:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:65438548:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:65438548:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:65438548:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:65438548:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:65438548:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:65438548:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:65438548:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:65438548:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:65438548:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:65438548:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:65438548:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:65438548:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:65438548:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:65438548:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:65438548:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:65438548:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:65438548:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LEPR (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.65438561_65438572del, NC_000001.11:g.65438562_65438572del, NC_000001.11:g.65438563_65438572del, NC_000001.11:g.65438565_65438572del, NC_000001.11:g.65438566_65438572del, NC_000001.11:g.65438568_65438572del, NC_000001.11:g.65438569_65438572del, NC_000001.11:g.65438570_65438572del, NC_000001.11:g.65438571_65438572del, NC_000001.11:g.65438572del, NC_000001.11:g.65438572dup, NC_000001.11:g.65438571_65438572dup, NC_000001.11:g.65438570_65438572dup, NC_000001.11:g.65438569_65438572dup, NC_000001.11:g.65438568_65438572dup, NC_000001.11:g.65438566_65438572dup, NC_000001.11:g.65438563_65438572dup, NC_000001.11:g.65438556_65438572dup, NC_000001.11:g.65438549_65438572dup, NC_000001.11:g.65438572_65438573insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.65904244_65904255del, NC_000001.10:g.65904245_65904255del, NC_000001.10:g.65904246_65904255del, NC_000001.10:g.65904248_65904255del, NC_000001.10:g.65904249_65904255del, NC_000001.10:g.65904251_65904255del, NC_000001.10:g.65904252_65904255del, NC_000001.10:g.65904253_65904255del, NC_000001.10:g.65904254_65904255del, NC_000001.10:g.65904255del, NC_000001.10:g.65904255dup, NC_000001.10:g.65904254_65904255dup, NC_000001.10:g.65904253_65904255dup, NC_000001.10:g.65904252_65904255dup, NC_000001.10:g.65904251_65904255dup, NC_000001.10:g.65904249_65904255dup, NC_000001.10:g.65904246_65904255dup, NC_000001.10:g.65904239_65904255dup, NC_000001.10:g.65904232_65904255dup, NC_000001.10:g.65904255_65904256insAAAAAAAAAAAAAAAAAAAAAAAAA, NG_015831.2:g.22997_23008del, NG_015831.2:g.22998_23008del, NG_015831.2:g.22999_23008del, NG_015831.2:g.23001_23008del, NG_015831.2:g.23002_23008del, NG_015831.2:g.23004_23008del, NG_015831.2:g.23005_23008del, NG_015831.2:g.23006_23008del, NG_015831.2:g.23007_23008del, NG_015831.2:g.23008del, NG_015831.2:g.23008dup, NG_015831.2:g.23007_23008dup, NG_015831.2:g.23006_23008dup, NG_015831.2:g.23005_23008dup, NG_015831.2:g.23004_23008dup, NG_015831.2:g.23002_23008dup, NG_015831.2:g.22999_23008dup, NG_015831.2:g.22992_23008dup, NG_015831.2:g.22985_23008dup, NG_015831.2:g.23008_23009insAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149142697215.

rs1491426972 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 1:65488210 (GRCh38)
1:65953893 (GRCh37)
Canonical SPDI:: NC_000001.11:65488208:TTT:T
Gene:: LEPR (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00244/29 (ALFA)
-=0.0722/2271 (GnomAD)
-=0.11522/1814 (TOMMO)
-=0.12711/226 (Korea1K)
HGVS:: NC_000001.11:g.65488210_65488211del, NC_000001.10:g.65953893_65953894del, NG_015831.2:g.72646_72647del

Select item 149142219016.

rs1491422190 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:65464739 (GRCh38)
1:65930423 (GRCh37)
Canonical SPDI:: NC_000001.11:65464739:A:AA
Gene:: LEPR (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.65464740dup, NC_000001.10:g.65930423dup, NG_015831.2:g.49176dup

Select item 149141945117.

rs1491419451 has merged into rs1189982161 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:65558560 (GRCh38)
1:66024243 (GRCh37)
Canonical SPDI:: NC_000001.11:65558549:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:65558549:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:65558549:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:65558549:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:65558549:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:65558549:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:65558549:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:65558549:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:65558549:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:65558549:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: LEPR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.65558560_65558564del, NC_000001.11:g.65558562_65558564del, NC_000001.11:g.65558563_65558564del, NC_000001.11:g.65558564del, NC_000001.11:g.65558564dup, NC_000001.11:g.65558563_65558564dup, NC_000001.11:g.65558562_65558564dup, NC_000001.11:g.65558555_65558564dup, NC_000001.11:g.65558554_65558564dup, NC_000001.11:g.65558551_65558564dup, NC_000001.10:g.66024243_66024247del, NC_000001.10:g.66024245_66024247del, NC_000001.10:g.66024246_66024247del, NC_000001.10:g.66024247del, NC_000001.10:g.66024247dup, NC_000001.10:g.66024246_66024247dup, NC_000001.10:g.66024245_66024247dup, NC_000001.10:g.66024238_66024247dup, NC_000001.10:g.66024237_66024247dup, NC_000001.10:g.66024234_66024247dup, NG_015831.2:g.142996_143000del, NG_015831.2:g.142998_143000del, NG_015831.2:g.142999_143000del, NG_015831.2:g.143000del, NG_015831.2:g.143000dup, NG_015831.2:g.142999_143000dup, NG_015831.2:g.142998_143000dup, NG_015831.2:g.142991_143000dup, NG_015831.2:g.142990_143000dup, NG_015831.2:g.142987_143000dup

Select item 149141171418.

rs1491411714 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 1:65507437 (GRCh38)
1:65973120 (GRCh37)
Canonical SPDI:: NC_000001.11:65507436:TT:
Gene:: LEPR (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00002/1 (GnomAD)
HGVS:: NC_000001.11:g.65507437_65507438del, NC_000001.10:g.65973120_65973121del, NG_015831.2:g.91873_91874del

Select item 149141160419.

rs1491411604 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 1:65539063 (GRCh38)
1:66004746 (GRCh37)
Canonical SPDI:: NC_000001.11:65539062:GT:
Gene:: LEPR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.65539063_65539064del, NC_000001.10:g.66004746_66004747del, NG_015831.2:g.123499_123500del

Select item 149137172420.

rs1491371724 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTCTCCA [Show Flanks]
Chromosome:: 1:65426998 (GRCh38)
1:65892682 (GRCh37)
Canonical SPDI:: NC_000001.11:65426998:A:AGTCTCCA
Gene:: LEPR (Varview), LEPROT (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AGTCTCCA=0./0 (ALFA)
AGTCTCC=0.00009/4 (GnomAD)
HGVS:: NC_000001.11:g.65426999_65427000insGTCTCCA, NC_000001.10:g.65892682_65892683insGTCTCCA, NG_015831.2:g.11435_11436insGTCTCCA

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