SNP Links for Nucleotide (Select 343488439) - SNP

Links from Nucleotide

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Select item 14915146761.

rs1491514676 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 2:53816265 (GRCh38)
2:54043402 (GRCh37)
Canonical SPDI:: NC_000002.12:53816264:GT:
Gene:: ERLEC1 (Varview), GPR75-ASB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000084/1 (ALFA)
-=0.000114/13 (GnomAD)
HGVS:: NC_000002.12:g.53816265_53816266del, NC_000002.11:g.54043402_54043403del, NG_029742.1:g.34335_34336del

Select item 14914970012.

rs1491497001 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,C [Show Flanks]
Chromosome:: 2:53804990 (GRCh38)
2:54032128 (GRCh37)
Canonical SPDI:: NC_000002.12:53804990::A,NC_000002.12:53804990::C
Gene:: ERLEC1 (Varview), GPR75-ASB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000016/1 (GnomAD)
HGVS:: NC_000002.12:g.53804990_53804991insA, NC_000002.12:g.53804990_53804991insC, NC_000002.11:g.54032127_54032128insA, NC_000002.11:g.54032127_54032128insC, NG_029742.1:g.23060_23061insA, NG_029742.1:g.23060_23061insC

Select item 14914797083.

rs1491479708 has merged into rs57918616 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:53816276 (GRCh38)
2:54043413 (GRCh37)
Canonical SPDI:: NC_000002.12:53816265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:53816265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:53816265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:53816265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:53816265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:53816265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:53816265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:53816265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:53816265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:53816265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:53816265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
Gene:: ERLEC1 (Varview), GPR75-ASB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.49/2454 (1000Genomes)
HGVS:: NC_000002.12:g.53816276_53816284del, NC_000002.12:g.53816277_53816284del, NC_000002.12:g.53816278_53816284del, NC_000002.12:g.53816279_53816284del, NC_000002.12:g.53816281_53816284del, NC_000002.12:g.53816282_53816284del, NC_000002.12:g.53816283_53816284del, NC_000002.12:g.53816284del, NC_000002.12:g.53816284dup, NC_000002.12:g.53816283_53816284dup, NC_000002.12:g.53816282_53816284dup, NC_000002.11:g.54043413_54043421del, NC_000002.11:g.54043414_54043421del, NC_000002.11:g.54043415_54043421del, NC_000002.11:g.54043416_54043421del, NC_000002.11:g.54043418_54043421del, NC_000002.11:g.54043419_54043421del, NC_000002.11:g.54043420_54043421del, NC_000002.11:g.54043421del, NC_000002.11:g.54043421dup, NC_000002.11:g.54043420_54043421dup, NC_000002.11:g.54043419_54043421dup, NG_029742.1:g.34346_34354del, NG_029742.1:g.34347_34354del, NG_029742.1:g.34348_34354del, NG_029742.1:g.34349_34354del, NG_029742.1:g.34351_34354del, NG_029742.1:g.34352_34354del, NG_029742.1:g.34353_34354del, NG_029742.1:g.34354del, NG_029742.1:g.34354dup, NG_029742.1:g.34353_34354dup, NG_029742.1:g.34352_34354dup

Select item 14913463014.

rs1491346301 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 2:53791906 (GRCh38)
2:54019043 (GRCh37)
Canonical SPDI:: NC_000002.12:53791905:TA:
Gene:: ERLEC1 (Varview), GPR75-ASB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000506/6 (ALFA)
-=0.000474/54 (GnomAD)
HGVS:: NC_000002.12:g.53791906_53791907del, NC_000002.11:g.54019043_54019044del, NG_029742.1:g.9976_9977del

Select item 14913390605.

rs1491339060 has merged into rs1160757930 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:53789406 (GRCh38)
2:54016543 (GRCh37)
Canonical SPDI:: NC_000002.12:53789393:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:53789393:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:53789393:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:53789393:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:53789393:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:53789393:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:53789393:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:53789393:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:53789393:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:53789393:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:53789393:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:53789393:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:53789393:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:53789393:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ERLEC1 (Varview), GPR75-ASB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.53789406_53789416del, NC_000002.12:g.53789407_53789416del, NC_000002.12:g.53789409_53789416del, NC_000002.12:g.53789410_53789416del, NC_000002.12:g.53789411_53789416del, NC_000002.12:g.53789412_53789416del, NC_000002.12:g.53789413_53789416del, NC_000002.12:g.53789414_53789416del, NC_000002.12:g.53789415_53789416del, NC_000002.12:g.53789416del, NC_000002.12:g.53789416dup, NC_000002.12:g.53789415_53789416dup, NC_000002.12:g.53789414_53789416dup, NC_000002.12:g.53789413_53789416dup, NC_000002.11:g.54016543_54016553del, NC_000002.11:g.54016544_54016553del, NC_000002.11:g.54016546_54016553del, NC_000002.11:g.54016547_54016553del, NC_000002.11:g.54016548_54016553del, NC_000002.11:g.54016549_54016553del, NC_000002.11:g.54016550_54016553del, NC_000002.11:g.54016551_54016553del, NC_000002.11:g.54016552_54016553del, NC_000002.11:g.54016553del, NC_000002.11:g.54016553dup, NC_000002.11:g.54016552_54016553dup, NC_000002.11:g.54016551_54016553dup, NC_000002.11:g.54016550_54016553dup, NG_029742.1:g.7476_7486del, NG_029742.1:g.7477_7486del, NG_029742.1:g.7479_7486del, NG_029742.1:g.7480_7486del, NG_029742.1:g.7481_7486del, NG_029742.1:g.7482_7486del, NG_029742.1:g.7483_7486del, NG_029742.1:g.7484_7486del, NG_029742.1:g.7485_7486del, NG_029742.1:g.7486del, NG_029742.1:g.7486dup, NG_029742.1:g.7485_7486dup, NG_029742.1:g.7484_7486dup, NG_029742.1:g.7483_7486dup

Select item 14913097206.

rs1491309720 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:53789393 (GRCh38)
2:54016530 (GRCh37)
Canonical SPDI:: NC_000002.12:53789392:CA:
Gene:: ERLEC1 (Varview), GPR75-ASB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000002.12:g.53789393_53789394del, NC_000002.11:g.54016530_54016531del, NG_029742.1:g.7463_7464del

Select item 14913067097.

rs1491306709 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 2:53819067 (GRCh38)
2:54046205 (GRCh37)
Canonical SPDI:: NC_000002.12:53819067:C:CC
Gene:: ERLEC1 (Varview), GPR75-ASB3 (Varview), LOC112268415 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
HGVS:: NC_000002.12:g.53819068dup, NC_000002.11:g.54046205dup, NG_029742.1:g.37138dup, XR_002959386.2:n.1291dup, XR_002959386.1:n.1291dup

Select item 14912896488.

rs1491289648 has merged into rs746963770 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,T,TT,TTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:53804999 (GRCh38)
2:54032136 (GRCh37)
Canonical SPDI:: NC_000002.12:53804989:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:53804989:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:53804989:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:53804989:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:53804989:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:53804989:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:53804989:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:53804989:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:53804989:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:53804989:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:53804989:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:53804989:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:53804989:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:53804989:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:53804989:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:53804989:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:53804989:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:53804989:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ERLEC1 (Varview), GPR75-ASB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000002.12:g.53804999_53805012del, NC_000002.12:g.53805000_53805012del, NC_000002.12:g.53805001_53805012del, NC_000002.12:g.53805002_53805012del, NC_000002.12:g.53805005_53805012del, NC_000002.12:g.53805006_53805012del, NC_000002.12:g.53805007_53805012del, NC_000002.12:g.53805010_53805012del, NC_000002.12:g.53805011_53805012del, NC_000002.12:g.53805012del, NC_000002.12:g.53805012dup, NC_000002.12:g.53805011_53805012dup, NC_000002.12:g.53805010_53805012dup, NC_000002.12:g.53805009_53805012dup, NC_000002.12:g.53805008_53805012dup, NC_000002.12:g.53805007_53805012dup, NC_000002.12:g.53805005_53805012dup, NC_000002.12:g.53805004_53805012dup, NC_000002.11:g.54032136_54032149del, NC_000002.11:g.54032137_54032149del, NC_000002.11:g.54032138_54032149del, NC_000002.11:g.54032139_54032149del, NC_000002.11:g.54032142_54032149del, NC_000002.11:g.54032143_54032149del, NC_000002.11:g.54032144_54032149del, NC_000002.11:g.54032147_54032149del, NC_000002.11:g.54032148_54032149del, NC_000002.11:g.54032149del, NC_000002.11:g.54032149dup, NC_000002.11:g.54032148_54032149dup, NC_000002.11:g.54032147_54032149dup, NC_000002.11:g.54032146_54032149dup, NC_000002.11:g.54032145_54032149dup, NC_000002.11:g.54032144_54032149dup, NC_000002.11:g.54032142_54032149dup, NC_000002.11:g.54032141_54032149dup, NG_029742.1:g.23069_23082del, NG_029742.1:g.23070_23082del, NG_029742.1:g.23071_23082del, NG_029742.1:g.23072_23082del, NG_029742.1:g.23075_23082del, NG_029742.1:g.23076_23082del, NG_029742.1:g.23077_23082del, NG_029742.1:g.23080_23082del, NG_029742.1:g.23081_23082del, NG_029742.1:g.23082del, NG_029742.1:g.23082dup, NG_029742.1:g.23081_23082dup, NG_029742.1:g.23080_23082dup, NG_029742.1:g.23079_23082dup, NG_029742.1:g.23078_23082dup, NG_029742.1:g.23077_23082dup, NG_029742.1:g.23075_23082dup, NG_029742.1:g.23074_23082dup

Select item 14912486719.

rs1491248671 has merged into rs58494548 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 2:53793018 (GRCh38)
2:54020155 (GRCh37)
Canonical SPDI:: NC_000002.12:53793005:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:53793005:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:53793005:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:53793005:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:53793005:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:53793005:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:53793005:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: ERLEC1 (Varview), GPR75-ASB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
A=0.24002/1202 (1000Genomes)
A=0.3/12 (GENOME_DK)
A=0.31271/182 (NorthernSweden)
HGVS:: NC_000002.12:g.53793018_53793020del, NC_000002.12:g.53793019_53793020del, NC_000002.12:g.53793020del, NC_000002.12:g.53793020dup, NC_000002.12:g.53793019_53793020dup, NC_000002.12:g.53793018_53793020dup, NC_000002.12:g.53793017_53793020dup, NC_000002.11:g.54020155_54020157del, NC_000002.11:g.54020156_54020157del, NC_000002.11:g.54020157del, NC_000002.11:g.54020157dup, NC_000002.11:g.54020156_54020157dup, NC_000002.11:g.54020155_54020157dup, NC_000002.11:g.54020154_54020157dup, NG_029742.1:g.11088_11090del, NG_029742.1:g.11089_11090del, NG_029742.1:g.11090del, NG_029742.1:g.11090dup, NG_029742.1:g.11089_11090dup, NG_029742.1:g.11088_11090dup, NG_029742.1:g.11087_11090dup

Select item 149120845910.

rs1491208459 has merged into rs397799356 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 2:53785982 (GRCh38)
2:54013120 (GRCh37)
Canonical SPDI:: NC_000002.12:53785982:TTTTT:TTTTTT
Gene:: ERLEC1 (Varview), ASB3 (Varview), GPR75-ASB3 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTT=0.000084/1 (ALFA)
T=0.000029/4 (GnomAD)
T=0.000248/4 (TOMMO)
HGVS:: NC_000002.12:g.53785987dup, NC_000002.11:g.54013124dup, NG_029742.1:g.4057dup

Select item 149104613311.

rs1491046133 has merged into rs66716085 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 2:53785444 (GRCh38)
2:54012581 (GRCh37)
Canonical SPDI:: NC_000002.12:53785433:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:53785433:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:53785433:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:53785433:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:53785433:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:53785433:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:53785433:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: ERLEC1 (Varview), ASB3 (Varview), GPR75-ASB3 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.2445/780 (1000Genomes)
HGVS:: NC_000002.12:g.53785444_53785447del, NC_000002.12:g.53785446_53785447del, NC_000002.12:g.53785447del, NC_000002.12:g.53785447dup, NC_000002.12:g.53785446_53785447dup, NC_000002.12:g.53785445_53785447dup, NC_000002.12:g.53785444_53785447dup, NC_000002.11:g.54012581_54012584del, NC_000002.11:g.54012583_54012584del, NC_000002.11:g.54012584del, NC_000002.11:g.54012584dup, NC_000002.11:g.54012583_54012584dup, NC_000002.11:g.54012582_54012584dup, NC_000002.11:g.54012581_54012584dup, NG_029742.1:g.3514_3517del, NG_029742.1:g.3516_3517del, NG_029742.1:g.3517del, NG_029742.1:g.3517dup, NG_029742.1:g.3516_3517dup, NG_029742.1:g.3515_3517dup, NG_029742.1:g.3514_3517dup

Select item 149088891712.

rs1490888917 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:53798623 (GRCh38)
2:54025760 (GRCh37)
Canonical SPDI:: NC_000002.12:53798622:G:A
Gene:: ERLEC1 (Varview), GPR75-ASB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000106/2 (TOMMO)
A=0.000342/1 (KOREAN)
A=0.001092/2 (Korea1K)
HGVS:: NC_000002.12:g.53798623G>A, NC_000002.11:g.54025760G>A, NG_029742.1:g.16693G>A

Select item 149086346713.

rs1490863467 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:53797798 (GRCh38)
2:54024935 (GRCh37)
Canonical SPDI:: NC_000002.12:53797797:T:G
Gene:: ERLEC1 (Varview), GPR75-ASB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.53797798T>G, NC_000002.11:g.54024935T>G, NG_029742.1:g.15868T>G

Select item 149086051714.

rs1490860517 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:53785667 (GRCh38)
2:54012804 (GRCh37)
Canonical SPDI:: NC_000002.12:53785666:A:C
Gene:: ERLEC1 (Varview), ASB3 (Varview), GPR75-ASB3 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.005459/10 (Korea1K)
HGVS:: NC_000002.12:g.53785667A>C, NC_000002.11:g.54012804A>C, NG_029742.1:g.3737A>C

Select item 149083728315.

rs1490837283 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:53783132 (GRCh38)
2:54010269 (GRCh37)
Canonical SPDI:: NC_000002.12:53783131:G:A
Gene:: ASB3 (Varview), GPR75-ASB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.53783132G>A, NC_000002.11:g.54010269G>A, NG_029742.1:g.1202G>A

Select item 149078957616.

rs1490789576 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:53813504 (GRCh38)
2:54040641 (GRCh37)
Canonical SPDI:: NC_000002.12:53813503:C:G
Gene:: ERLEC1 (Varview), GPR75-ASB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.53813504C>G, NC_000002.11:g.54040641C>G, NG_029742.1:g.31574C>G

Select item 149064720317.

rs1490647203 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:53804983 (GRCh38)
2:54032120 (GRCh37)
Canonical SPDI:: NC_000002.12:53804982:G:A
Gene:: ERLEC1 (Varview), GPR75-ASB3 (Varview)
Functional Consequence:: intron_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.53804983G>A, NC_000002.11:g.54032120G>A, NG_029742.1:g.23053G>A

Select item 149063032418.

rs1490630324 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:53791677 (GRCh38)
2:54018814 (GRCh37)
Canonical SPDI:: NC_000002.12:53791676:T:G
Gene:: ERLEC1 (Varview), GPR75-ASB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000084/1 (ALFA)
G=0./0 (GnomAD)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.53791677T>G, NC_000002.11:g.54018814T>G, NG_029742.1:g.9747T>G

Select item 149062172719.

rs1490621727 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:53812363 (GRCh38)
2:54039500 (GRCh37)
Canonical SPDI:: NC_000002.12:53812362:T:C
Gene:: ERLEC1 (Varview), GPR75-ASB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.53812363T>C, NC_000002.11:g.54039500T>C, NG_029742.1:g.30433T>C

Select item 149055578020.

rs1490555780 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTTT [Show Flanks]
Chromosome:: 2:53814989 (GRCh38)
2:54042127 (GRCh37)
Canonical SPDI:: NC_000002.12:53814989:TTTT:TTTTCTTTT
Gene:: ERLEC1 (Varview), GPR75-ASB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTTCTTTT=0.0002/1 (ALFA)
HGVS:: NC_000002.12:g.53814990_53814993T[4]CTTTT[1], NC_000002.11:g.54042127_54042130T[4]CTTTT[1], NG_029742.1:g.33060_33063T[4]CTTTT[1]

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