SNP Links for Gene (Select 150946) - SNP

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 20 of 1000

<< First< Prev

Page of 50

Next >Last >>

Select item 14914325421.

rs1491432542 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 2:26189768 (GRCh38)
2:26412638 (GRCh37)
Canonical SPDI:: NC_000002.12:26189768::T
Gene:: GAREM2 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000447/2 (ALFA)
T=0.000071/1 (TOMMO)
T=0.000207/29 (GnomAD)
T=0.000446/2 (Estonian)
HGVS:: NC_000002.12:g.26189768_26189769insT, NC_000002.11:g.26412637_26412638insT, NG_007121.2:g.59853_59854insA

Select item 14914050772.

rs1491405077 [Homo sapiens]

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

Select item 14912281633.

rs1491228163 [Homo sapiens]

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

Select item 14912096524.

rs1491209652 [Homo sapiens]

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

Select item 14911359515.

rs1491135951 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>- [Show Flanks]
Chromosome:: 2:26189769 (GRCh38)
2:26412638 (GRCh37)
Canonical SPDI:: NC_000002.12:26189767:GGG:G
Gene:: GAREM2 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000656/92 (GnomAD)
-=0.001249/8 (1000Genomes)
-=0.001638/3 (Korea1K)
HGVS:: NC_000002.12:g.26189769_26189770del, NC_000002.11:g.26412638_26412639del, NG_007121.2:g.59853_59854del

Select item 14910467486.

rs1491046748 has merged into rs34898931 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA [Show Flanks]
Chromosome:: 2:26192232 (GRCh38)
2:26415101 (GRCh37)
Canonical SPDI:: NC_000002.12:26192219:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:26192219:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:26192219:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:26192219:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:26192219:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
Gene:: HADHA (Varview), GAREM2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.08798/1474 (TOMMO)
-=0.10699/196 (Korea1K)
-=0.25679/1257 (1000Genomes)
HGVS:: NC_000002.12:g.26192232_26192234del, NC_000002.12:g.26192233_26192234del, NC_000002.12:g.26192234del, NC_000002.12:g.26192234dup, NC_000002.12:g.26192233_26192234dup, NC_000002.11:g.26415101_26415103del, NC_000002.11:g.26415102_26415103del, NC_000002.11:g.26415103del, NC_000002.11:g.26415103dup, NC_000002.11:g.26415102_26415103dup, NG_007121.2:g.57400_57402del, NG_007121.2:g.57401_57402del, NG_007121.2:g.57402del, NG_007121.2:g.57402dup, NG_007121.2:g.57401_57402dup

Select item 14905577187.

rs1490557718 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:26188918 (GRCh38)
2:26411787 (GRCh37)
Canonical SPDI:: NC_000002.12:26188917:C:T
Gene:: GAREM2 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000029/4 (GnomAD)
HGVS:: NC_000002.12:g.26188918C>T, NC_000002.11:g.26411787C>T, NG_007121.2:g.60704G>A, XM_006711951.5:c.*661C>T, XM_006711951.4:c.*661C>T, XM_006711951.3:c.*661C>T, XM_006711951.2:c.*661C>T, XM_006711951.1:c.*661C>T, XM_011532565.4:c.*661C>T, XM_011532565.3:c.*661C>T, XM_011532565.2:c.*661C>T, XM_011532565.1:c.*661C>T, XM_011532564.3:c.*661C>T, XM_011532564.2:c.*661C>T, XM_011532564.1:c.*661C>T, XM_011532566.3:c.*661C>T, XM_011532566.2:c.*661C>T, XM_011532566.1:c.*661C>T, NM_001191033.2:c.*661C>T, NM_001191033.1:c.*661C>T, NM_001168241.2:c.*661C>T, NM_001168241.1:c.*661C>T

Select item 14905295278.

rs1490529527 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:26173991 (GRCh38)
2:26396860 (GRCh37)
Canonical SPDI:: NC_000002.12:26173990:C:T
Gene:: GAREM2 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000026/7 (TOPMED)
HGVS:: NC_000002.12:g.26173991C>T, NC_000002.11:g.26396860C>T, XM_011532565.4:c.-26C>T, XM_011532565.3:c.-26C>T, XM_011532565.2:c.-26C>T, XM_011532565.1:c.-26C>T

Select item 14902039329.

rs1490203932 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 2:26198602 (GRCh38)
2:26421471 (GRCh37)
Canonical SPDI:: NC_000002.12:26198601:AAAA:AAA
Gene:: HADHA (Varview), GAREM2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AAA=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.26198605del, NC_000002.11:g.26421474del, NG_007121.2:g.51020del

Select item 149017942110.

rs1490179421 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:26182892 (GRCh38)
2:26405761 (GRCh37)
Canonical SPDI:: NC_000002.12:26182891:T:C
Gene:: GAREM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.26182892T>C, NC_000002.11:g.26405761T>C

Select item 149013967311.

rs1490139673 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:26190938 (GRCh38)
2:26413807 (GRCh37)
Canonical SPDI:: NC_000002.12:26190937:G:C
Gene:: HADHA (Varview), GAREM2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.26190938G>C, NC_000002.11:g.26413807G>C, NG_007121.2:g.58684C>G, NM_000182.5:c.*312C>G, NM_000182.4:c.*312C>G

Select item 149011169712.

rs1490111697 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:26176357 (GRCh38)
2:26399226 (GRCh37)
Canonical SPDI:: NC_000002.12:26176356:G:C
Gene:: GAREM2 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD_exomes)
C=0.000106/2 (TOMMO)
HGVS:: NC_000002.12:g.26176357G>C, NC_000002.11:g.26399226G>C, XM_006711951.5:c.126G>C, XM_006711951.4:c.126G>C, XM_006711951.3:c.126G>C, XM_006711951.2:c.126G>C, XM_006711951.1:c.126G>C, XM_011532565.4:c.120G>C, XM_011532565.3:c.120G>C, XM_011532565.2:c.120G>C, XM_011532565.1:c.120G>C, XM_011532567.4:c.126G>C, XM_011532567.3:c.126G>C, XM_011532567.2:c.126G>C, XM_011532567.1:c.126G>C, XM_011532564.3:c.120G>C, XM_011532564.2:c.120G>C, XM_011532564.1:c.120G>C, NM_001168241.2:c.126G>C, NM_001168241.1:c.126G>C, XP_006712014.1:p.Glu42Asp, XP_011530867.1:p.Glu40Asp, XP_011530869.1:p.Glu42Asp, XP_011530866.1:p.Glu40Asp, NP_001161713.1:p.Glu42Asp

Select item 148998833913.

rs1489988339 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:26194006 (GRCh38)
2:26416875 (GRCh37)
Canonical SPDI:: NC_000002.12:26194005:T:G
Gene:: HADHA (Varview), GAREM2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.26194006T>G, NC_000002.11:g.26416875T>G, NG_007121.2:g.55616A>C

Select item 148975110714.

rs1489751107 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:26183077 (GRCh38)
2:26405946 (GRCh37)
Canonical SPDI:: NC_000002.12:26183076:G:A
Gene:: GAREM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.26183077G>A, NC_000002.11:g.26405946G>A, XM_006711951.5:c.364G>A, XM_006711951.4:c.364G>A, XM_006711951.3:c.364G>A, XM_006711951.2:c.364G>A, XM_006711951.1:c.364G>A, XM_011532565.4:c.358G>A, XM_011532565.3:c.358G>A, XM_011532565.2:c.358G>A, XM_011532565.1:c.358G>A, XM_011532567.4:c.364G>A, XM_011532567.3:c.364G>A, XM_011532567.2:c.364G>A, XM_011532567.1:c.364G>A, XM_011532564.3:c.358G>A, XM_011532564.2:c.358G>A, XM_011532564.1:c.358G>A, XM_011532566.3:c.7G>A, XM_011532566.2:c.7G>A, XM_011532566.1:c.7G>A, NM_001191033.2:c.133G>A, NM_001191033.1:c.133G>A, NM_001168241.2:c.364G>A, NM_001168241.1:c.364G>A, XP_006712014.1:p.Ala122Thr, XP_011530867.1:p.Ala120Thr, XP_011530869.1:p.Ala122Thr, XP_011530866.1:p.Ala120Thr, XP_011530868.1:p.Ala3Thr, NP_001177962.1:p.Ala45Thr, NP_001161713.1:p.Ala122Thr

Select item 148972859415.

rs1489728594 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:26192021 (GRCh38)
2:26414890 (GRCh37)
Canonical SPDI:: NC_000002.12:26192020:G:A
Gene:: HADHA (Varview), GAREM2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.26192021G>A, NC_000002.11:g.26414890G>A, NG_007121.2:g.57601C>T

Select item 148969299816.

rs1489692998 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:26190100 (GRCh38)
2:26412969 (GRCh37)
Canonical SPDI:: NC_000002.12:26190099:T:G
Gene:: GAREM2 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000036/5 (GnomAD)
G=0.000038/10 (TOPMED)
HGVS:: NC_000002.12:g.26190100T>G, NC_000002.11:g.26412969T>G, NG_007121.2:g.59522A>C

Select item 148964626717.

rs1489646267 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:26175340 (GRCh38)
2:26398209 (GRCh37)
Canonical SPDI:: NC_000002.12:26175339:G:T
Gene:: GAREM2 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.26175340G>T, NC_000002.11:g.26398209G>T

Select item 148928072618.

rs1489280726 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:26202415 (GRCh38)
2:26425284 (GRCh37)
Canonical SPDI:: NC_000002.12:26202414:G:C
Gene:: HADHA (Varview), GAREM2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.26202415G>C, NC_000002.11:g.26425284G>C, NG_007121.2:g.47207C>G, XM_011532567.4:c.*96G>C, XM_011532567.3:c.*96G>C, XM_011532567.1:c.*96G>C

Select item 148925982519.

rs1489259825 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:26201367 (GRCh38)
2:26424236 (GRCh37)
Canonical SPDI:: NC_000002.12:26201366:C:T
Gene:: HADHA (Varview), GAREM2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.26201367C>T, NC_000002.11:g.26424236C>T, NG_007121.2:g.48255G>A

Select item 148916237920.

rs1489162379 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:26182623 (GRCh38)
2:26405492 (GRCh37)
Canonical SPDI:: NC_000002.12:26182622:C:T
Gene:: GAREM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.26182623C>T, NC_000002.11:g.26405492C>T

<< First< Prev

Page of 50

Next >Last >>

Supplemental Content

Filters: Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

SNP Links for Gene (Select 150946) (1000)
SNP

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to: