SNP Links for Gene (Select 54741) - SNP

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Select item 14915589501.

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 14913717242.

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

Select item 14913153133.

rs1491315313 has merged into rs60757318 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:65435373 (GRCh38)
1:65901056 (GRCh37)
Canonical SPDI:: NC_000001.11:65435366:TTTTTTTTTTTTTTTTTTT:TTTTTT,NC_000001.11:65435366:TTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000001.11:65435366:TTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000001.11:65435366:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:65435366:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:65435366:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:65435366:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:65435366:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:65435366:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:65435366:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:65435366:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:65435366:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:65435366:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:65435366:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:65435366:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:65435366:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:65435366:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:65435366:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:65435366:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:65435366:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:65435366:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:65435366:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:65435366:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:65435366:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:65435366:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:65435366:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:65435366:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:65435366:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: LEPR (Varview), LEPROT (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.65435373_65435385del, NC_000001.11:g.65435374_65435385del, NC_000001.11:g.65435375_65435385del, NC_000001.11:g.65435376_65435385del, NC_000001.11:g.65435377_65435385del, NC_000001.11:g.65435378_65435385del, NC_000001.11:g.65435379_65435385del, NC_000001.11:g.65435380_65435385del, NC_000001.11:g.65435382_65435385del, NC_000001.11:g.65435383_65435385del, NC_000001.11:g.65435384_65435385del, NC_000001.11:g.65435385del, NC_000001.11:g.65435385dup, NC_000001.11:g.65435384_65435385dup, NC_000001.11:g.65435383_65435385dup, NC_000001.11:g.65435382_65435385dup, NC_000001.11:g.65435381_65435385dup, NC_000001.11:g.65435380_65435385dup, NC_000001.11:g.65435379_65435385dup, NC_000001.11:g.65435378_65435385dup, NC_000001.11:g.65435377_65435385dup, NC_000001.11:g.65435376_65435385dup, NC_000001.11:g.65435375_65435385dup, NC_000001.11:g.65435374_65435385dup, NC_000001.11:g.65435373_65435385dup, NC_000001.11:g.65435372_65435385dup, NC_000001.11:g.65435371_65435385dup, NC_000001.11:g.65435370_65435385dup, NC_000001.10:g.65901056_65901068del, NC_000001.10:g.65901057_65901068del, NC_000001.10:g.65901058_65901068del, NC_000001.10:g.65901059_65901068del, NC_000001.10:g.65901060_65901068del, NC_000001.10:g.65901061_65901068del, NC_000001.10:g.65901062_65901068del, NC_000001.10:g.65901063_65901068del, NC_000001.10:g.65901065_65901068del, NC_000001.10:g.65901066_65901068del, NC_000001.10:g.65901067_65901068del, NC_000001.10:g.65901068del, NC_000001.10:g.65901068dup, NC_000001.10:g.65901067_65901068dup, NC_000001.10:g.65901066_65901068dup, NC_000001.10:g.65901065_65901068dup, NC_000001.10:g.65901064_65901068dup, NC_000001.10:g.65901063_65901068dup, NC_000001.10:g.65901062_65901068dup, NC_000001.10:g.65901061_65901068dup, NC_000001.10:g.65901060_65901068dup, NC_000001.10:g.65901059_65901068dup, NC_000001.10:g.65901058_65901068dup, NC_000001.10:g.65901057_65901068dup, NC_000001.10:g.65901056_65901068dup, NC_000001.10:g.65901055_65901068dup, NC_000001.10:g.65901054_65901068dup, NC_000001.10:g.65901053_65901068dup, NG_015831.2:g.19809_19821del, NG_015831.2:g.19810_19821del, NG_015831.2:g.19811_19821del, NG_015831.2:g.19812_19821del, NG_015831.2:g.19813_19821del, NG_015831.2:g.19814_19821del, NG_015831.2:g.19815_19821del, NG_015831.2:g.19816_19821del, NG_015831.2:g.19818_19821del, NG_015831.2:g.19819_19821del, NG_015831.2:g.19820_19821del, NG_015831.2:g.19821del, NG_015831.2:g.19821dup, NG_015831.2:g.19820_19821dup, NG_015831.2:g.19819_19821dup, NG_015831.2:g.19818_19821dup, NG_015831.2:g.19817_19821dup, NG_015831.2:g.19816_19821dup, NG_015831.2:g.19815_19821dup, NG_015831.2:g.19814_19821dup, NG_015831.2:g.19813_19821dup, NG_015831.2:g.19812_19821dup, NG_015831.2:g.19811_19821dup, NG_015831.2:g.19810_19821dup, NG_015831.2:g.19809_19821dup, NG_015831.2:g.19808_19821dup, NG_015831.2:g.19807_19821dup, NG_015831.2:g.19806_19821dup, NM_017526.5:c.*3454_*3466del, NM_017526.5:c.*3455_*3466del, NM_017526.5:c.*3456_*3466del, NM_017526.5:c.*3457_*3466del, NM_017526.5:c.*3458_*3466del, NM_017526.5:c.*3459_*3466del, NM_017526.5:c.*3460_*3466del, NM_017526.5:c.*3461_*3466del, NM_017526.5:c.*3463_*3466del, NM_017526.5:c.*3464_*3466del, NM_017526.5:c.*3465_*3466del, NM_017526.5:c.*3466del, NM_017526.5:c.*3466dup, NM_017526.5:c.*3465_*3466dup, NM_017526.5:c.*3464_*3466dup, NM_017526.5:c.*3463_*3466dup, NM_017526.5:c.*3462_*3466dup, NM_017526.5:c.*3461_*3466dup, NM_017526.5:c.*3460_*3466dup, NM_017526.5:c.*3459_*3466dup, NM_017526.5:c.*3458_*3466dup, NM_017526.5:c.*3457_*3466dup, NM_017526.5:c.*3456_*3466dup, NM_017526.5:c.*3455_*3466dup, NM_017526.5:c.*3454_*3466dup, NM_017526.5:c.*3453_*3466dup, NM_017526.5:c.*3452_*3466dup, NM_017526.5:c.*3451_*3466dup, NM_017526.4:c.*3454_*3466del, NM_017526.4:c.*3455_*3466del, NM_017526.4:c.*3456_*3466del, NM_017526.4:c.*3457_*3466del, NM_017526.4:c.*3458_*3466del, NM_017526.4:c.*3459_*3466del, NM_017526.4:c.*3460_*3466del, NM_017526.4:c.*3461_*3466del, NM_017526.4:c.*3463_*3466del, NM_017526.4:c.*3464_*3466del, NM_017526.4:c.*3465_*3466del, NM_017526.4:c.*3466del, NM_017526.4:c.*3466dup, NM_017526.4:c.*3465_*3466dup, NM_017526.4:c.*3464_*3466dup, NM_017526.4:c.*3463_*3466dup, NM_017526.4:c.*3462_*3466dup, NM_017526.4:c.*3461_*3466dup, NM_017526.4:c.*3460_*3466dup, NM_017526.4:c.*3459_*3466dup, NM_017526.4:c.*3458_*3466dup, NM_017526.4:c.*3457_*3466dup, NM_017526.4:c.*3456_*3466dup, NM_017526.4:c.*3455_*3466dup, NM_017526.4:c.*3454_*3466dup, NM_017526.4:c.*3453_*3466dup, NM_017526.4:c.*3452_*3466dup, NM_017526.4:c.*3451_*3466dup, NM_001198681.2:c.*3454_*3466del, NM_001198681.2:c.*3455_*3466del, NM_001198681.2:c.*3456_*3466del, NM_001198681.2:c.*3457_*3466del, NM_001198681.2:c.*3458_*3466del, NM_001198681.2:c.*3459_*3466del, NM_001198681.2:c.*3460_*3466del, NM_001198681.2:c.*3461_*3466del, NM_001198681.2:c.*3463_*3466del, NM_001198681.2:c.*3464_*3466del, NM_001198681.2:c.*3465_*3466del, NM_001198681.2:c.*3466del, NM_001198681.2:c.*3466dup, NM_001198681.2:c.*3465_*3466dup, NM_001198681.2:c.*3464_*3466dup, NM_001198681.2:c.*3463_*3466dup, NM_001198681.2:c.*3462_*3466dup, NM_001198681.2:c.*3461_*3466dup, NM_001198681.2:c.*3460_*3466dup, NM_001198681.2:c.*3459_*3466dup, NM_001198681.2:c.*3458_*3466dup, NM_001198681.2:c.*3457_*3466dup, NM_001198681.2:c.*3456_*3466dup, NM_001198681.2:c.*3455_*3466dup, NM_001198681.2:c.*3454_*3466dup, NM_001198681.2:c.*3453_*3466dup, NM_001198681.2:c.*3452_*3466dup, NM_001198681.2:c.*3451_*3466dup, NM_001198681.1:c.*3454_*3466del, NM_001198681.1:c.*3455_*3466del, NM_001198681.1:c.*3456_*3466del, NM_001198681.1:c.*3457_*3466del, NM_001198681.1:c.*3458_*3466del, NM_001198681.1:c.*3459_*3466del, NM_001198681.1:c.*3460_*3466del, NM_001198681.1:c.*3461_*3466del, NM_001198681.1:c.*3463_*3466del, NM_001198681.1:c.*3464_*3466del, NM_001198681.1:c.*3465_*3466del, NM_001198681.1:c.*3466del, NM_001198681.1:c.*3466dup, NM_001198681.1:c.*3465_*3466dup, NM_001198681.1:c.*3464_*3466dup, NM_001198681.1:c.*3463_*3466dup, NM_001198681.1:c.*3462_*3466dup, NM_001198681.1:c.*3461_*3466dup, NM_001198681.1:c.*3460_*3466dup, NM_001198681.1:c.*3459_*3466dup, NM_001198681.1:c.*3458_*3466dup, NM_001198681.1:c.*3457_*3466dup, NM_001198681.1:c.*3456_*3466dup, NM_001198681.1:c.*3455_*3466dup, NM_001198681.1:c.*3454_*3466dup, NM_001198681.1:c.*3453_*3466dup, NM_001198681.1:c.*3452_*3466dup, NM_001198681.1:c.*3451_*3466dup

Select item 14912919694.

rs1491291969 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTT [Show Flanks]
Chromosome:: 1:65435367 (GRCh38)
1:65901051 (GRCh37)
Canonical SPDI:: NC_000001.11:65435367:TTT:TTTCTTT
Gene:: LEPR (Varview), LEPROT (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTTCTTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.65435370_65435371insCTTT, NC_000001.10:g.65901053_65901054insCTTT, NG_015831.2:g.19806_19807insCTTT, NM_017526.5:c.*3451_*3452insCTTT, NM_017526.4:c.*3451_*3452insCTTT, NM_001198681.2:c.*3451_*3452insCTTT, NM_001198681.1:c.*3451_*3452insCTTT

Select item 14906416015.

rs1490641601 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:65423908 (GRCh38)
1:65889591 (GRCh37)
Canonical SPDI:: NC_000001.11:65423907:C:T
Gene:: LEPR (Varview), LEPROT (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000001.11:g.65423908C>T, NC_000001.10:g.65889591C>T, NG_015831.2:g.8344C>T

Select item 14902209836.

rs1490220983 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:65433312 (GRCh38)
1:65898995 (GRCh37)
Canonical SPDI:: NC_000001.11:65433311:C:T
Gene:: LEPR (Varview), LEPROT (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_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_000001.11:g.65433312C>T, NC_000001.10:g.65898995C>T, NG_015831.2:g.17748C>T, NM_017526.5:c.*1393C>T, NM_017526.4:c.*1393C>T, NM_001198681.2:c.*1393C>T, NM_001198681.1:c.*1393C>T

Select item 14900993447.

rs1490099344 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:65425880 (GRCh38)
1:65891563 (GRCh37)
Canonical SPDI:: NC_000001.11:65425879:G:A
Gene:: LEPR (Varview), LEPROT (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000057/8 (GnomAD)
A=0.000094/25 (TOPMED)
HGVS:: NC_000001.11:g.65425880G>A, NC_000001.10:g.65891563G>A, NG_015831.2:g.10316G>A

Select item 14900838848.

rs1490083884 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:65426746 (GRCh38)
1:65892429 (GRCh37)
Canonical SPDI:: NC_000001.11:65426745:C:T
Gene:: LEPR (Varview), LEPROT (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000849/14 (TOMMO)
T=0.001369/4 (KOREAN)
T=0.001638/3 (Korea1K)
HGVS:: NC_000001.11:g.65426746C>T, NC_000001.10:g.65892429C>T, NG_015831.2:g.11182C>T

Select item 14900782479.

rs1490078247 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:65430263 (GRCh38)
1:65895946 (GRCh37)
Canonical SPDI:: NC_000001.11:65430262:G:A
Gene:: LEPR (Varview), LEPROT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000001.11:g.65430263G>A, NC_000001.10:g.65895946G>A, NG_015831.2:g.14699G>A

Select item 148992014610.

rs1489920146 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:65426352 (GRCh38)
1:65892035 (GRCh37)
Canonical SPDI:: NC_000001.11:65426351:G:A
Gene:: LEPR (Varview), LEPROT (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.65426352G>A, NC_000001.10:g.65892035G>A, NG_015831.2:g.10788G>A

Select item 148985001711.

rs1489850017 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:65419145 (GRCh38)
1:65884828 (GRCh37)
Canonical SPDI:: NC_000001.11:65419144:G:A,NC_000001.11:65419144:G:T
Gene:: LEPR (Varview), LEPROT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.65419145G>A, NC_000001.11:g.65419145G>T, NC_000001.10:g.65884828G>A, NC_000001.10:g.65884828G>T, NG_015831.2:g.3581G>A, NG_015831.2:g.3581G>T

Select item 148979297712.

rs1489792977 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 1:65419271 (GRCh38)
1:65884954 (GRCh37)
Canonical SPDI:: NC_000001.11:65419270:GGG:GG
Gene:: LEPR (Varview), LEPROT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.65419273del, NC_000001.10:g.65884956del, NG_015831.2:g.3709del

Select item 148970503713.

rs1489705037 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:65430707 (GRCh38)
1:65896390 (GRCh37)
Canonical SPDI:: NC_000001.11:65430706:T:A
Gene:: LEPR (Varview), LEPROT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.65430707T>A, NC_000001.10:g.65896390T>A, NG_015831.2:g.15143T>A

Select item 148954245514.

rs1489542455 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:65422987 (GRCh38)
1:65888670 (GRCh37)
Canonical SPDI:: NC_000001.11:65422986:G:A
Gene:: LEPR (Varview), LEPROT (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.65422987G>A, NC_000001.10:g.65888670G>A, NG_015831.2:g.7423G>A

Select item 148942439415.

rs1489424394 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:65425067 (GRCh38)
1:65890750 (GRCh37)
Canonical SPDI:: NC_000001.11:65425066:T:C
Gene:: LEPR (Varview), LEPROT (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000214/3 (ALFA)
C=0.00003/8 (TOPMED)
C=0.000057/8 (GnomAD)
C=0.008333/5 (NorthernSweden)
HGVS:: NC_000001.11:g.65425067T>C, NC_000001.10:g.65890750T>C, NG_015831.2:g.9503T>C

Select item 148939091716.

rs1489390917 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 1:65424419 (GRCh38)
1:65890102 (GRCh37)
Canonical SPDI:: NC_000001.11:65424418:GG:G
Gene:: LEPR (Varview), LEPROT (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.65424420del, NC_000001.10:g.65890103del, NG_015831.2:g.8856del

Select item 148926726717.

rs1489267267 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:65435259 (GRCh38)
1:65900942 (GRCh37)
Canonical SPDI:: NC_000001.11:65435258:C:T
Gene:: LEPR (Varview), LEPROT (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00007/2 (TOMMO)
HGVS:: NC_000001.11:g.65435259C>T, NC_000001.10:g.65900942C>T, NG_015831.2:g.19695C>T, NM_017526.5:c.*3340C>T, NM_017526.4:c.*3340C>T, NM_001198681.2:c.*3340C>T, NM_001198681.1:c.*3340C>T

Select item 148920821518.

rs1489208215 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:65422633 (GRCh38)
1:65888316 (GRCh37)
Canonical SPDI:: NC_000001.11:65422632:G:T
Gene:: LEPR (Varview), LEPROT (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.65422633G>T, NC_000001.10:g.65888316G>T, NG_015831.2:g.7069G>T

Select item 148913547519.

rs1489135475 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:65420388 (GRCh38)
1:65886071 (GRCh37)
Canonical SPDI:: NC_000001.11:65420387:C:T
Gene:: LEPR (Varview), LEPROT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000034/9 (TOPMED)
HGVS:: NC_000001.11:g.65420388C>T, NC_000001.10:g.65886071C>T, NG_015831.2:g.4824C>T

Select item 148910325520.

rs1489103255 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:65423955 (GRCh38)
1:65889638 (GRCh37)
Canonical SPDI:: NC_000001.11:65423954:G:A
Gene:: LEPR (Varview), LEPROT (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.65423955G>A, NC_000001.10:g.65889638G>A, NG_015831.2:g.8391G>A

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