SNP Links for Gene (Select 101928040) - SNP

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Select item 14909582041.

rs1490958204 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:93957461 (GRCh38)
9:96719743 (GRCh37)
Canonical SPDI:: NC_000009.12:93957460:C:T
Gene:: BARX1-DT (Varview), LOC124902216 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000023/6 (TOPMED)
T=0.000672/11 (TOMMO)
HGVS:: NC_000009.12:g.93957461C>T, NC_000009.11:g.96719743C>T

Select item 14901383092.

rs1490138309 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:93957010 (GRCh38)
9:96719292 (GRCh37)
Canonical SPDI:: NC_000009.12:93957009:G:A
Gene:: BARX1 (Varview), BARX1-DT (Varview), LOC124902216 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.93957010G>A, NC_000009.11:g.96719292G>A

Select item 14898371853.

rs1489837185 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 9:93955016 (GRCh38)
9:96717298 (GRCh37)
Canonical SPDI:: NC_000009.12:93955015:G:A,NC_000009.12:93955015:G:C,NC_000009.12:93955015:G:T
Gene:: BARX1 (Varview), BARX1-DT (Varview), LOC124902216 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000009.12:g.93955016G>A, NC_000009.12:g.93955016G>C, NC_000009.12:g.93955016G>T, NC_000009.11:g.96717298G>A, NC_000009.11:g.96717298G>C, NC_000009.11:g.96717298G>T, NM_021570.4:c.131C>T, NM_021570.4:c.131C>G, NM_021570.4:c.131C>A, NM_021570.3:c.131C>T, NM_021570.3:c.131C>G, NM_021570.3:c.131C>A, NP_067545.3:p.Ala44Val, NP_067545.3:p.Ala44Gly, NP_067545.3:p.Ala44Asp

Select item 14878931514.

rs1487893151 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:93954693 (GRCh38)
9:96716975 (GRCh37)
Canonical SPDI:: NC_000009.12:93954692:G:A
Gene:: BARX1 (Varview), BARX1-DT (Varview), LOC124902216 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.93954693G>A, NC_000009.11:g.96716975G>A

Select item 14878524635.

rs1487852463 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:93955260 (GRCh38)
9:96717542 (GRCh37)
Canonical SPDI:: NC_000009.12:93955259:G:A
Gene:: BARX1 (Varview), BARX1-DT (Varview), LOC124902216 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.93955260G>A, NC_000009.11:g.96717542G>A, NM_021570.4:c.-114C>T, NM_021570.3:c.-114C>T

Select item 14876744616.

rs1487674461 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 9:93956261 (GRCh38)
9:96718543 (GRCh37)
Canonical SPDI:: NC_000009.12:93956260:G:A,NC_000009.12:93956260:G:C
Gene:: BARX1 (Varview), BARX1-DT (Varview), LOC124902216 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
C=0.000312/2 (1000Genomes)
HGVS:: NC_000009.12:g.93956261G>A, NC_000009.12:g.93956261G>C, NC_000009.11:g.96718543G>A, NC_000009.11:g.96718543G>C, NR_144455.1:n.428G>A, NR_144455.1:n.428G>C

Select item 14864518207.

rs1486451820 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 9:93954701 (GRCh38)
9:96716983 (GRCh37)
Canonical SPDI:: NC_000009.12:93954700:T:G
Gene:: BARX1 (Varview), BARX1-DT (Varview), LOC124902216 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_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_000009.12:g.93954701T>G, NC_000009.11:g.96716983T>G

Select item 14862773018.

rs1486277301 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:93957369 (GRCh38)
9:96719651 (GRCh37)
Canonical SPDI:: NC_000009.12:93957368:C:G
Gene:: BARX1-DT (Varview), LOC124902216 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.93957369C>G, NC_000009.11:g.96719651C>G

Select item 14861600139.

rs1486160013 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:93954245 (GRCh38)
9:96716527 (GRCh37)
Canonical SPDI:: NC_000009.12:93954244:C:T
Gene:: BARX1 (Varview), BARX1-DT (Varview), LOC124902216 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.93954245C>T, NC_000009.11:g.96716527C>T

Select item 148615262910.

rs1486152629 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 9:93955431 (GRCh38)
9:96717713 (GRCh37)
Canonical SPDI:: NC_000009.12:93955430:G:A,NC_000009.12:93955430:G:C
Gene:: BARX1 (Varview), BARX1-DT (Varview), LOC124902216 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00017/2 (ALFA)
A=0.00013/12 (GnomAD)
C=0.00227/64 (TOMMO)
C=0.0196/51 (KOREAN)
HGVS:: NC_000009.12:g.93955431G>A, NC_000009.12:g.93955431G>C, NC_000009.11:g.96717713G>A, NC_000009.11:g.96717713G>C

Select item 148463060511.

rs1484630605 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:93955891 (GRCh38)
9:96718173 (GRCh37)
Canonical SPDI:: NC_000009.12:93955890:G:A
Gene:: BARX1 (Varview), BARX1-DT (Varview), LOC124902216 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.93955891G>A, NC_000009.11:g.96718173G>A, NR_144455.1:n.58G>A

Select item 148462437412.

rs1484624374 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 9:93956183 (GRCh38)
9:96718465 (GRCh37)
Canonical SPDI:: NC_000009.12:93956182:T:
Gene:: BARX1 (Varview), BARX1-DT (Varview), LOC124902216 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000019/5 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000009.12:g.93956183del, NC_000009.11:g.96718465del, NR_144455.1:n.350del

Select item 148439780713.

rs1484397807 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:93958276 (GRCh38)
9:96720558 (GRCh37)
Canonical SPDI:: NC_000009.12:93958275:C:T
Gene:: BARX1-DT (Varview), LOC124902216 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000009.12:g.93958276C>T, NC_000009.11:g.96720558C>T

Select item 148420223014.

rs1484202230 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:93956119 (GRCh38)
9:96718401 (GRCh37)
Canonical SPDI:: NC_000009.12:93956118:T:C
Gene:: BARX1 (Varview), BARX1-DT (Varview), LOC124902216 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.93956119T>C, NC_000009.11:g.96718401T>C, NR_144455.1:n.286T>C

Select item 148410830515.

rs1484108305 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:93955948 (GRCh38)
9:96718230 (GRCh37)
Canonical SPDI:: NC_000009.12:93955947:C:T
Gene:: BARX1 (Varview), BARX1-DT (Varview), LOC124902216 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000216/4 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
T=0.000893/4 (Estonian)
HGVS:: NC_000009.12:g.93955948C>T, NC_000009.11:g.96718230C>T, NR_144455.1:n.115C>T

Select item 148408840616.

rs1484088406 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:93955330 (GRCh38)
9:96717612 (GRCh37)
Canonical SPDI:: NC_000009.12:93955329:G:A
Gene:: BARX1 (Varview), BARX1-DT (Varview), LOC124902216 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000583/1 (Korea1K)
HGVS:: NC_000009.12:g.93955330G>A, NC_000009.11:g.96717612G>A, NM_021570.4:c.-184C>T

Select item 148368672517.

rs1483686725 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:93955131 (GRCh38)
9:96717413 (GRCh37)
Canonical SPDI:: NC_000009.12:93955130:C:T
Gene:: BARX1 (Varview), BARX1-DT (Varview), LOC124902216 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000029/4 (GnomAD)
T=0.00003/8 (TOPMED)
HGVS:: NC_000009.12:g.93955131C>T, NC_000009.11:g.96717413C>T, NM_021570.4:c.16G>A, NM_021570.3:c.16G>A, NP_067545.3:p.Glu6Lys

Select item 148364438118.

rs1483644381 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:93956976 (GRCh38)
9:96719258 (GRCh37)
Canonical SPDI:: NC_000009.12:93956975:G:A
Gene:: BARX1 (Varview), BARX1-DT (Varview), LOC124902216 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_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_000009.12:g.93956976G>A, NC_000009.11:g.96719258G>A

Select item 148328185519.

rs1483281855 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 9:93955997 (GRCh38)
9:96718279 (GRCh37)
Canonical SPDI:: NC_000009.12:93955996:C:A,NC_000009.12:93955996:C:T
Gene:: BARX1 (Varview), BARX1-DT (Varview), LOC124902216 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.93955997C>A, NC_000009.12:g.93955997C>T, NC_000009.11:g.96718279C>A, NC_000009.11:g.96718279C>T, NR_144455.1:n.164C>A, NR_144455.1:n.164C>T

Select item 148318072520.

rs1483180725 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:93955315 (GRCh38)
9:96717597 (GRCh37)
Canonical SPDI:: NC_000009.12:93955314:G:A
Gene:: BARX1 (Varview), BARX1-DT (Varview), LOC124902216 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_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_000009.12:g.93955315G>A, NC_000009.11:g.96717597G>A, NM_021570.4:c.-169C>T, NM_021570.3:c.-169C>T