SNP Links for Gene (Select 100532737) - SNP

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Select item 14913303771.

rs1491330377 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 6:31548146 (GRCh38)
6:31515923 (GRCh37)
Canonical SPDI:: NC_000006.12:31548145:CT:
Gene:: ATP6V1G2 (Varview), NFKBIL1 (Varview), ATP6V1G2-DDX39B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31548146_31548147del, NC_000006.11:g.31515923_31515924del, NG_012344.1:g.6296_6297del, NT_113891.3:g.3025471_3025472del, NT_113891.2:g.3025577_3025578del, NT_167249.2:g.2847429_2847430del, NT_167249.1:g.2846727_2846728del, NT_167246.2:g.2853194_2853195del, NT_167246.1:g.2858814_2858815del, NT_167248.2:g.2803997_2803998del, NT_167248.1:g.2809593_2809594del, NT_167245.2:g.2795911_2795912del, NT_167245.1:g.2801496_2801497del, NT_167247.2:g.2890080_2890081del, NT_167247.1:g.2895665_2895666del

Select item 14911227072.

rs1491122707 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 6:31532968 (GRCh38)
6:31500745 (GRCh37)
Canonical SPDI:: NC_000006.12:31532967:CT:
Gene:: DDX39B (Varview), ATP6V1G2-DDX39B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0./0 (ExAC)
HGVS:: NC_000006.12:g.31532968_31532969del, NC_000006.11:g.31500745_31500746del, NT_113891.3:g.3010301_3010302del, NT_113891.2:g.3010407_3010408del, NT_167248.2:g.2788829_2788830del, NT_167248.1:g.2794425_2794426del, NT_167245.2:g.2780740_2780741del, NT_167245.1:g.2786325_2786326del, NT_167249.2:g.2832252_2832253del, NT_167249.1:g.2831550_2831551del, NT_167246.2:g.2838040_2838041del, NT_167246.1:g.2843660_2843661del, NT_167247.2:g.2874910_2874911del, NT_167247.1:g.2880495_2880496del, NT_167244.2:g.2865517_2865518del, NT_167244.1:g.2815433_2815434del

Select item 14903975643.

rs1490397564 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:31542432 (GRCh38)
6:31510209 (GRCh37)
Canonical SPDI:: NC_000006.12:31542431:G:A,NC_000006.12:31542431:G:C
Gene:: DDX39B (Varview), SNORD84 (Varview), ATP6V1G2-DDX39B (Varview), DDX39B-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD_exomes)
C=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.31542432G>A, NC_000006.12:g.31542432G>C, NC_000006.11:g.31510209G>A, NC_000006.11:g.31510209G>C, NG_012344.1:g.582G>A, NG_012344.1:g.582G>C, NT_113891.3:g.3019762G>A, NT_113891.3:g.3019762G>C, NT_113891.2:g.3019868G>A, NT_113891.2:g.3019868G>C, NT_167249.2:g.2841716G>A, NT_167249.2:g.2841716G>C, NT_167249.1:g.2841014G>A, NT_167249.1:g.2841014G>C, NT_167246.2:g.2847485G>A, NT_167246.2:g.2847485G>C, NT_167246.1:g.2853105G>A, NT_167246.1:g.2853105G>C, NT_167248.2:g.2798288G>A, NT_167248.2:g.2798288G>C, NT_167248.1:g.2803884G>A, NT_167248.1:g.2803884G>C, NT_167245.2:g.2790202G>A, NT_167245.2:g.2790202G>C, NT_167245.1:g.2795787G>A, NT_167245.1:g.2795787G>C, NT_167247.2:g.2884371G>A, NT_167247.2:g.2884371G>C, NT_167247.1:g.2889956G>A, NT_167247.1:g.2889956G>C, NM_004640.6:c.-615C>T, NM_004640.6:c.-615C>G, NM_080598.5:c.-485C>T, NM_080598.5:c.-485C>G, NR_037852.1:n.44C>T, NR_037852.1:n.44C>G

Select item 14903874044.

rs1490387404 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:31548043 (GRCh38)
6:31515820 (GRCh37)
Canonical SPDI:: NC_000006.12:31548042:T:G
Gene:: ATP6V1G2 (Varview), NFKBIL1 (Varview), ATP6V1G2-DDX39B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.31548043T>G, NC_000006.11:g.31515820T>G, NG_012344.1:g.6193T>G, NT_113891.3:g.3025368T>G, NT_113891.2:g.3025474T>G, NT_167249.2:g.2847326T>G, NT_167249.1:g.2846624T>G, NT_167246.2:g.2853091T>G, NT_167246.1:g.2858711T>G, NT_167248.2:g.2803894T>G, NT_167248.1:g.2809490T>G, NT_167245.2:g.2795808T>G, NT_167245.1:g.2801393T>G, NT_167247.2:g.2889977T>G, NT_167247.1:g.2895562T>G

Select item 14903688025.

rs1490368802 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:31545956 (GRCh38)
6:31513733 (GRCh37)
Canonical SPDI:: NC_000006.12:31545955:C:T
Gene:: ATP6V1G2 (Varview), NFKBIL1 (Varview), ATP6V1G2-DDX39B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.31545956C>T, NC_000006.11:g.31513733C>T, NG_012344.1:g.4106C>T, NT_113891.3:g.3023286C>T, NT_113891.2:g.3023392C>T, NT_167249.2:g.2845240C>T, NT_167249.1:g.2844538C>T, NT_167246.2:g.2851009C>T, NT_167246.1:g.2856629C>T, NT_167248.2:g.2801812C>T, NT_167248.1:g.2807408C>T, NT_167245.2:g.2793726C>T, NT_167245.1:g.2799311C>T, NT_167247.2:g.2887895C>T, NT_167247.1:g.2893480C>T

Select item 14900909186.

rs1490090918 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:31541001 (GRCh38)
6:31508778 (GRCh37)
Canonical SPDI:: NC_000006.12:31541000:A:C
Gene:: DDX39B (Varview), SNORD84 (Varview), ATP6V1G2-DDX39B (Varview), DDX39B-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.31541001A>C, NC_000006.11:g.31508778A>C, NT_113891.3:g.3018331A>C, NT_113891.2:g.3018437A>C, NT_167248.2:g.2796857A>C, NT_167248.1:g.2802453A>C, NT_167245.2:g.2788771A>C, NT_167245.1:g.2794356A>C, NT_167249.2:g.2840285A>C, NT_167249.1:g.2839583A>C, NT_167246.2:g.2846054A>C, NT_167246.1:g.2851674A>C, NT_167247.2:g.2882940A>C, NT_167247.1:g.2888525A>C

Select item 14900358117.

rs1490035811 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:31542959 (GRCh38)
6:31510736 (GRCh37)
Canonical SPDI:: NC_000006.12:31542958:G:A,NC_000006.12:31542958:G:T
Gene:: DDX39B (Varview), SNORD84 (Varview), ATP6V1G2-DDX39B (Varview), DDX39B-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000066/1 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000006.12:g.31542959G>A, NC_000006.12:g.31542959G>T, NC_000006.11:g.31510736G>A, NC_000006.11:g.31510736G>T, NG_012344.1:g.1109G>A, NG_012344.1:g.1109G>T, NT_113891.3:g.3020289G>A, NT_113891.3:g.3020289G>T, NT_113891.2:g.3020395G>A, NT_113891.2:g.3020395G>T, NT_167249.2:g.2842243G>A, NT_167249.2:g.2842243G>T, NT_167249.1:g.2841541G>A, NT_167249.1:g.2841541G>T, NT_167246.2:g.2848012G>A, NT_167246.2:g.2848012G>T, NT_167246.1:g.2853632G>A, NT_167246.1:g.2853632G>T, NT_167248.2:g.2798815G>A, NT_167248.2:g.2798815G>T, NT_167248.1:g.2804411G>A, NT_167248.1:g.2804411G>T, NT_167245.2:g.2790729G>A, NT_167245.2:g.2790729G>T, NT_167245.1:g.2796314G>A, NT_167245.1:g.2796314G>T, NT_167247.2:g.2884898G>A, NT_167247.2:g.2884898G>T, NT_167247.1:g.2890483G>A, NT_167247.1:g.2890483G>T, NR_133674.1:n.348G>A, NR_133674.1:n.348G>T, NR_133675.1:n.344G>A, NR_133675.1:n.344G>T

Select item 14898910988.

rs1489891098 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:31535677 (GRCh38)
6:31503454 (GRCh37)
Canonical SPDI:: NC_000006.12:31535676:A:G
Gene:: DDX39B (Varview), ATP6V1G2-DDX39B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.31535677A>G, NC_000006.11:g.31503454A>G, NT_113891.3:g.3013010A>G, NT_113891.2:g.3013116A>G, NT_167248.2:g.2791538A>G, NT_167248.1:g.2797134A>G, NT_167245.2:g.2783449A>G, NT_167245.1:g.2789034A>G, NT_167249.2:g.2834961A>G, NT_167249.1:g.2834259A>G, NT_167246.2:g.2840748A>G, NT_167246.1:g.2846368A>G, NT_167247.2:g.2877619A>G, NT_167247.1:g.2883204A>G, NT_167244.2:g.2868226A>G, NT_167244.1:g.2818142A>G

Select item 14898705529.

rs1489870552 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTT>- [Show Flanks]
Chromosome:: 6:31544026 (GRCh38)
6:31511803 (GRCh37)
Canonical SPDI:: NC_000006.12:31544023:TTCTT:TT
Gene:: ATP6V1G2 (Varview), ATP6V1G2-DDX39B (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0.000071/1 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.31544026_31544028del, NC_000006.11:g.31511803_31511805del, NG_012344.1:g.2176_2178del, NT_113891.3:g.3021356_3021358del, NT_113891.2:g.3021462_3021464del, NT_167249.2:g.2843310_2843312del, NT_167249.1:g.2842608_2842610del, NT_167246.2:g.2849079_2849081del, NT_167246.1:g.2854699_2854701del, NT_167248.2:g.2799882_2799884del, NT_167248.1:g.2805478_2805480del, NT_167245.2:g.2791796_2791798del, NT_167245.1:g.2797381_2797383del, NT_167247.2:g.2885965_2885967del, NT_167247.1:g.2891550_2891552del

Select item 148982797710.

rs1489827977 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31544249 (GRCh38)
6:31512026 (GRCh37)
Canonical SPDI:: NC_000006.12:31544248:G:A
Gene:: ATP6V1G2 (Varview), ATP6V1G2-DDX39B (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000006.12:g.31544249G>A, NC_000006.11:g.31512026G>A, NG_012344.1:g.2399G>A, NT_113891.3:g.3021579G>A, NT_113891.2:g.3021685G>A, NT_167249.2:g.2843533G>A, NT_167249.1:g.2842831G>A, NT_167246.2:g.2849302G>A, NT_167246.1:g.2854922G>A, NT_167248.2:g.2800105G>A, NT_167248.1:g.2805701G>A, NT_167245.2:g.2792019G>A, NT_167245.1:g.2797604G>A, NT_167247.2:g.2886188G>A, NT_167247.1:g.2891773G>A

Select item 148943350311.

rs1489433503 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31545249 (GRCh38)
6:31513026 (GRCh37)
Canonical SPDI:: NC_000006.12:31545248:G:A
Gene:: ATP6V1G2 (Varview), NFKBIL1 (Varview), ATP6V1G2-DDX39B (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.31545249G>A, NC_000006.11:g.31513026G>A, NG_012344.1:g.3399G>A, NT_113891.3:g.3022579G>A, NT_113891.2:g.3022685G>A, NT_167249.2:g.2844533G>A, NT_167249.1:g.2843831G>A, NT_167246.2:g.2850302G>A, NT_167246.1:g.2855922G>A, NT_167248.2:g.2801105G>A, NT_167248.1:g.2806701G>A, NT_167245.2:g.2793019G>A, NT_167245.1:g.2798604G>A, NT_167247.2:g.2887188G>A, NT_167247.1:g.2892773G>A, NM_130463.4:c.*159C>T, NM_130463.3:c.*159C>T, NM_138282.3:c.*159C>T, NM_138282.2:c.*159C>T, NM_001204078.2:c.*159C>T, NM_001204078.1:c.*159C>T

Select item 148900051012.

rs1489000510 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:31543488 (GRCh38)
6:31511265 (GRCh37)
Canonical SPDI:: NC_000006.12:31543487:G:C
Gene:: DDX39B (Varview), ATP6V1G2-DDX39B (Varview), DDX39B-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.31543488G>C, NC_000006.11:g.31511265G>C, NG_012344.1:g.1638G>C, NT_113891.3:g.3020818G>C, NT_113891.2:g.3020924G>C, NT_167249.2:g.2842772G>C, NT_167249.1:g.2842070G>C, NT_167246.2:g.2848541G>C, NT_167246.1:g.2854161G>C, NT_167248.2:g.2799344G>C, NT_167248.1:g.2804940G>C, NT_167245.2:g.2791258G>C, NT_167245.1:g.2796843G>C, NT_167247.2:g.2885427G>C, NT_167247.1:g.2891012G>C

Select item 148897022513.

rs1488970225 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:31542344 (GRCh38)
6:31510121 (GRCh37)
Canonical SPDI:: NC_000006.12:31542343:C:T
Gene:: DDX39B (Varview), SNORD84 (Varview), ATP6V1G2-DDX39B (Varview), DDX39B-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.31542344C>T, NC_000006.11:g.31510121C>T, NG_012344.1:g.494C>T, NT_113891.3:g.3019674C>T, NT_113891.2:g.3019780C>T, NT_167249.2:g.2841628C>T, NT_167249.1:g.2840926C>T, NT_167246.2:g.2847397C>T, NT_167246.1:g.2853017C>T, NT_167248.2:g.2798200C>T, NT_167248.1:g.2803796C>T, NT_167245.2:g.2790114C>T, NT_167245.1:g.2795699C>T, NT_167247.2:g.2884283C>T, NT_167247.1:g.2889868C>T, NM_004640.6:c.-527G>A, NM_080598.5:c.-397G>A, NR_133674.1:n.41C>T, NR_037852.1:n.132G>A, NR_133675.1:n.41C>T

Select item 148857123114.

rs1488571231 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:31532460 (GRCh38)
6:31500237 (GRCh37)
Canonical SPDI:: NC_000006.12:31532459:A:T
Gene:: DDX39B (Varview), ATP6V1G2-DDX39B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.31532460A>T, NC_000006.11:g.31500237A>T, NT_113891.3:g.3009793A>T, NT_113891.2:g.3009899A>T, NT_167248.2:g.2788321A>T, NT_167248.1:g.2793917A>T, NT_167245.2:g.2780232A>T, NT_167245.1:g.2785817A>T, NT_167249.2:g.2831744A>T, NT_167249.1:g.2831042A>T, NT_167246.2:g.2837532A>T, NT_167246.1:g.2843152A>T, NT_167247.2:g.2874402A>T, NT_167247.1:g.2879987A>T, NT_167244.2:g.2865009A>T, NT_167244.1:g.2814925A>T

Select item 148855956115.

rs1488559561 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31538724 (GRCh38)
6:31506501 (GRCh37)
Canonical SPDI:: NC_000006.12:31538723:G:A
Gene:: DDX39B (Varview), ATP6V1G2-DDX39B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31538724G>A, NC_000006.11:g.31506501G>A, NT_113891.3:g.3016057G>A, NT_113891.2:g.3016163G>A, NT_167248.2:g.2794583G>A, NT_167248.1:g.2800179G>A, NT_167245.2:g.2786496G>A, NT_167245.1:g.2792081G>A, NT_167249.2:g.2838008G>A, NT_167249.1:g.2837306G>A, NT_167246.2:g.2843795G>A, NT_167246.1:g.2849415G>A, NT_167247.2:g.2880666G>A, NT_167247.1:g.2886251G>A, NT_167244.2:g.2871273G>A, NT_167244.1:g.2821189G>A

Select item 148854917616.

rs1488549176 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31547355 (GRCh38)
6:31515132 (GRCh37)
Canonical SPDI:: NC_000006.12:31547354:G:A
Gene:: ATP6V1G2 (Varview), NFKBIL1 (Varview), ATP6V1G2-DDX39B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,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_000006.12:g.31547355G>A, NC_000006.11:g.31515132G>A, NG_012344.1:g.5505G>A, NT_113891.3:g.3024680G>A, NT_113891.2:g.3024786G>A, NT_167249.2:g.2846638G>A, NT_167249.1:g.2845936G>A, NT_167246.2:g.2852403G>A, NT_167246.1:g.2858023G>A, NT_167248.2:g.2803206G>A, NT_167248.1:g.2808802G>A, NT_167245.2:g.2795120G>A, NT_167245.1:g.2800705G>A, NT_167247.2:g.2889289G>A, NT_167247.1:g.2894874G>A

Select item 148840362417.

rs1488403624 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31536387 (GRCh38)
6:31504164 (GRCh37)
Canonical SPDI:: NC_000006.12:31536386:G:A
Gene:: DDX39B (Varview), SNORD117 (Varview), ATP6V1G2-DDX39B (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.31536387G>A, NC_000006.11:g.31504164G>A, NT_113891.3:g.3013720G>A, NT_113891.2:g.3013826G>A, NT_167248.2:g.2792248G>A, NT_167248.1:g.2797844G>A, NT_167245.2:g.2784159G>A, NT_167245.1:g.2789744G>A, NT_167249.2:g.2835671G>A, NT_167249.1:g.2834969G>A, NT_167246.2:g.2841458G>A, NT_167246.1:g.2847078G>A, NT_167247.2:g.2878329G>A, NT_167247.1:g.2883914G>A, NT_167244.2:g.2868936G>A, NT_167244.1:g.2818852G>A, NR_003140.1:n.63C>T

Select item 148835502518.

rs1488355025 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31535125 (GRCh38)
6:31502902 (GRCh37)
Canonical SPDI:: NC_000006.12:31535124:G:A
Gene:: DDX39B (Varview), ATP6V1G2-DDX39B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.31535125G>A, NC_000006.11:g.31502902G>A, NT_113891.3:g.3012458G>A, NT_113891.2:g.3012564G>A, NT_167248.2:g.2790986G>A, NT_167248.1:g.2796582G>A, NT_167245.2:g.2782897G>A, NT_167245.1:g.2788482G>A, NT_167249.2:g.2834409G>A, NT_167249.1:g.2833707G>A, NT_167246.2:g.2840196G>A, NT_167246.1:g.2845816G>A, NT_167247.2:g.2877067G>A, NT_167247.1:g.2882652G>A, NT_167244.2:g.2867674G>A, NT_167244.1:g.2817590G>A

Select item 148811420719.

rs1488114207 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:31539647 (GRCh38)
6:31507424 (GRCh37)
Canonical SPDI:: NC_000006.12:31539646:T:C
Gene:: DDX39B (Varview), ATP6V1G2-DDX39B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.31539647T>C, NC_000006.11:g.31507424T>C, NT_113891.3:g.3016980T>C, NT_113891.2:g.3017086T>C, NT_167248.2:g.2795506T>C, NT_167248.1:g.2801102T>C, NT_167245.2:g.2787419T>C, NT_167245.1:g.2793004T>C, NT_167249.2:g.2838931T>C, NT_167249.1:g.2838229T>C, NT_167246.2:g.2844718T>C, NT_167246.1:g.2850338T>C, NT_167247.2:g.2881589T>C, NT_167247.1:g.2887174T>C

Select item 148799281820.

rs1487992818 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:31546664 (GRCh38)
6:31514441 (GRCh37)
Canonical SPDI:: NC_000006.12:31546663:C:G
Gene:: ATP6V1G2 (Varview), NFKBIL1 (Varview), ATP6V1G2-DDX39B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.31546664C>G, NC_000006.11:g.31514441C>G, NG_012344.1:g.4814C>G, NT_113891.3:g.3023990C>G, NT_113891.2:g.3024096C>G, NT_167249.2:g.2845948C>G, NT_167249.1:g.2845246C>G, NT_167246.2:g.2851713C>G, NT_167246.1:g.2857333C>G, NT_167248.2:g.2802516C>G, NT_167248.1:g.2808112C>G, NT_167245.2:g.2794430C>G, NT_167245.1:g.2800015C>G, NT_167247.2:g.2888599C>G, NT_167247.1:g.2894184C>G, NM_130463.3:c.-105G>C, NM_138282.3:c.-74G>C, NM_138282.2:c.-74G>C, NR_037853.1:n.185G>C, NM_001204078.1:c.-105G>C

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