SNP Links for Gene (Select 54433) - SNP

Links from Gene

Items: 1 to 20 of 2797

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Select item 14912489551.

rs1491248955 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 4:109813702 (GRCh38)
4:110734858 (GRCh37)
Canonical SPDI:: NC_000004.12:109813701:TG:
Gene:: GAR1 (Varview), LOC124900758 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0.00025/3 (ALFA)
HGVS:: NC_000004.12:g.109813702_109813703del, NC_000004.11:g.110734858_110734859del

Select item 14911640032.

rs1491164003 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,TC,TG,TTA [Show Flanks]
Chromosome:: 4:109813702 (GRCh38)
4:110734859 (GRCh37)
Canonical SPDI:: NC_000004.12:109813702::C,NC_000004.12:109813702::TC,NC_000004.12:109813702::TG,NC_000004.12:109813702::TTA
Gene:: GAR1 (Varview), LOC124900758 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
TTA=0.00018/5 (TOMMO)
HGVS:: NC_000004.12:g.109813702_109813703insC, NC_000004.12:g.109813702_109813703insTC, NC_000004.12:g.109813702_109813703insTG, NC_000004.12:g.109813702_109813703insTTA, NC_000004.11:g.110734858_110734859insC, NC_000004.11:g.110734858_110734859insTC, NC_000004.11:g.110734858_110734859insTG, NC_000004.11:g.110734858_110734859insTTA

Select item 14908768853.

rs1490876885 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTAGGA [Show Flanks]
Chromosome:: 4:109822235 (GRCh38)
4:110743392 (GRCh37)
Canonical SPDI:: NC_000004.12:109822235:GTAGGA:GTAGGAGTAGGA
Gene:: GAR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTAGGAGTAGGA=0./0 (ALFA)
GTAGGA=0.000004/1 (TOPMED)
GTAGGA=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.109822236_109822241dup, NC_000004.11:g.110743392_110743397dup

Select item 14905120284.

rs1490512028 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:109814664 (GRCh38)
4:110735820 (GRCh37)
Canonical SPDI:: NC_000004.12:109814663:G:T
Gene:: GAR1 (Varview), LOC124900758 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_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_000004.12:g.109814664G>T, NC_000004.11:g.110735820G>T

Select item 14904755855.

rs1490475585 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:109813699 (GRCh38)
4:110734855 (GRCh37)
Canonical SPDI:: NC_000004.12:109813698:T:G
Gene:: GAR1 (Varview), LOC124900758 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.109813699T>G, NC_000004.11:g.110734855T>G

Select item 14902788136.

rs1490278813 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:109820424 (GRCh38)
4:110741580 (GRCh37)
Canonical SPDI:: NC_000004.12:109820423:A:T
Gene:: GAR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.109820424A>T, NC_000004.11:g.110741580A>T

Select item 14898981367.

rs1489898136 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:109821555 (GRCh38)
4:110742711 (GRCh37)
Canonical SPDI:: NC_000004.12:109821554:A:T
Gene:: GAR1 (Varview)
Functional Consequence:: intron_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_000004.12:g.109821555A>T, NC_000004.11:g.110742711A>T

Select item 14897721988.

rs1489772198 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:109823982 (GRCh38)
4:110745138 (GRCh37)
Canonical SPDI:: NC_000004.12:109823981:A:G
Gene:: GAR1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.109823982A>G, NC_000004.11:g.110745138A>G, NM_018983.4:c.589A>G, NM_018983.3:c.589A>G, NM_032993.2:c.589A>G, XM_047415789.1:c.589A>G, NP_061856.1:p.Arg197Gly, NP_127460.1:p.Arg197Gly, XP_047271745.1:p.Arg197Gly

Select item 14891237529.

rs1489123752 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 4:109817923 (GRCh38)
4:110739080 (GRCh37)
Canonical SPDI:: NC_000004.12:109817923:G:GG
Gene:: GAR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.000013/3 (GnomAD_exomes)
G=0.000019/5 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000004.12:g.109817924dup, NC_000004.11:g.110739080dup

Select item 148868767410.

rs1488687674 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:109823302 (GRCh38)
4:110744458 (GRCh37)
Canonical SPDI:: NC_000004.12:109823301:A:G
Gene:: GAR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.109823302A>G, NC_000004.11:g.110744458A>G

Select item 148839996011.

rs1488399960 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:109822589 (GRCh38)
4:110743745 (GRCh37)
Canonical SPDI:: NC_000004.12:109822588:G:A
Gene:: GAR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.109822589G>A, NC_000004.11:g.110743745G>A

Select item 148834478612.

rs1488344786 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:109815224 (GRCh38)
4:110736380 (GRCh37)
Canonical SPDI:: NC_000004.12:109815223:C:T
Gene:: GAR1 (Varview), LOC124900758 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_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_000004.12:g.109815224C>T, NC_000004.11:g.110736380C>T, XR_007058227.1:n.159G>A

Select item 148825469613.

rs1488254696 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:109815601 (GRCh38)
4:110736757 (GRCh37)
Canonical SPDI:: NC_000004.12:109815600:T:C
Gene:: GAR1 (Varview), LOC124900758 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.109815601T>C, NC_000004.11:g.110736757T>C, NM_018983.3:c.-216T>C, XM_047415789.1:c.-417T>C

Select item 148787661014.

rs1487876610 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:109823513 (GRCh38)
4:110744669 (GRCh37)
Canonical SPDI:: NC_000004.12:109823512:T:C
Gene:: GAR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
C=0.000156/1 (1000Genomes)
HGVS:: NC_000004.12:g.109823513T>C, NC_000004.11:g.110744669T>C

Select item 148749782215.

rs1487497822 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:109817905 (GRCh38)
4:110739061 (GRCh37)
Canonical SPDI:: NC_000004.12:109817904:T:C
Gene:: GAR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.109817905T>C, NC_000004.11:g.110739061T>C

Select item 148748853916.

rs1487488539 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:109816156 (GRCh38)
4:110737312 (GRCh37)
Canonical SPDI:: NC_000004.12:109816155:G:A
Gene:: GAR1 (Varview), LOC124900758 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.109816156G>A, NC_000004.11:g.110737312G>A, NM_018983.4:c.-9G>A, NM_018983.3:c.-9G>A, NM_032993.2:c.-9G>A, XM_047415789.1:c.-9G>A

Select item 148743098317.

rs1487430983 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:109822403 (GRCh38)
4:110743559 (GRCh37)
Canonical SPDI:: NC_000004.12:109822402:A:G
Gene:: GAR1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.109822403A>G, NC_000004.11:g.110743559A>G, NM_018983.4:c.486A>G, NM_018983.3:c.486A>G, NM_032993.2:c.486A>G, XM_047415789.1:c.486A>G

Select item 148634325618.

rs1486343256 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:109824074 (GRCh38)
4:110745230 (GRCh37)
Canonical SPDI:: NC_000004.12:109824073:A:C
Gene:: GAR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.109824074A>C, NC_000004.11:g.110745230A>C

Select item 148569848219.

rs1485698482 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:109818026 (GRCh38)
4:110739182 (GRCh37)
Canonical SPDI:: NC_000004.12:109818025:T:C
Gene:: GAR1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.109818026T>C, NC_000004.11:g.110739182T>C, NM_018983.4:c.305T>C, NM_018983.3:c.305T>C, NM_032993.2:c.305T>C, XM_047415789.1:c.305T>C, NP_061856.1:p.Val102Ala, NP_127460.1:p.Val102Ala, XP_047271745.1:p.Val102Ala

Select item 148547353420.

rs1485473534 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:109814587 (GRCh38)
4:110735743 (GRCh37)
Canonical SPDI:: NC_000004.12:109814586:G:C
Gene:: GAR1 (Varview), LOC124900758 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_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_000004.12:g.109814587G>C, NC_000004.11:g.110735743G>C

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