SNP Links for Gene (Select 348932) - SNP

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Select item 14914735441.

rs1491473544 has merged into rs61528804 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:1237250 (GRCh38)
5:1237365 (GRCh37)
Canonical SPDI:: NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SLC6A18 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.4/16 (GENOME_DK)
HGVS:: NC_000005.10:g.1237250_1237263del, NC_000005.10:g.1237253_1237263del, NC_000005.10:g.1237254_1237263del, NC_000005.10:g.1237255_1237263del, NC_000005.10:g.1237256_1237263del, NC_000005.10:g.1237257_1237263del, NC_000005.10:g.1237258_1237263del, NC_000005.10:g.1237259_1237263del, NC_000005.10:g.1237260_1237263del, NC_000005.10:g.1237261_1237263del, NC_000005.10:g.1237262_1237263del, NC_000005.10:g.1237263del, NC_000005.10:g.1237263dup, NC_000005.10:g.1237262_1237263dup, NC_000005.10:g.1237261_1237263dup, NC_000005.10:g.1237260_1237263dup, NC_000005.10:g.1237259_1237263dup, NC_000005.10:g.1237258_1237263dup, NC_000005.10:g.1237254_1237263dup, NC_000005.10:g.1237253_1237263dup, NC_000005.10:g.1237252_1237263dup, NC_000005.10:g.1237251_1237263dup, NC_000005.10:g.1237250_1237263dup, NC_000005.10:g.1237249_1237263dup, NC_000005.10:g.1237248_1237263dup, NC_000005.10:g.1237246_1237263dup, NC_000005.9:g.1237365_1237378del, NC_000005.9:g.1237368_1237378del, NC_000005.9:g.1237369_1237378del, NC_000005.9:g.1237370_1237378del, NC_000005.9:g.1237371_1237378del, NC_000005.9:g.1237372_1237378del, NC_000005.9:g.1237373_1237378del, NC_000005.9:g.1237374_1237378del, NC_000005.9:g.1237375_1237378del, NC_000005.9:g.1237376_1237378del, NC_000005.9:g.1237377_1237378del, NC_000005.9:g.1237378del, NC_000005.9:g.1237378dup, NC_000005.9:g.1237377_1237378dup, NC_000005.9:g.1237376_1237378dup, NC_000005.9:g.1237375_1237378dup, NC_000005.9:g.1237374_1237378dup, NC_000005.9:g.1237373_1237378dup, NC_000005.9:g.1237369_1237378dup, NC_000005.9:g.1237368_1237378dup, NC_000005.9:g.1237367_1237378dup, NC_000005.9:g.1237366_1237378dup, NC_000005.9:g.1237365_1237378dup, NC_000005.9:g.1237364_1237378dup, NC_000005.9:g.1237363_1237378dup, NC_000005.9:g.1237361_1237378dup

Select item 14914487092.

rs1491448709 [Homo sapiens]

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

Select item 14913020513.

rs1491302051 has merged into rs61528804 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:1237250 (GRCh38)
5:1237365 (GRCh37)
Canonical SPDI:: NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SLC6A18 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.4/16 (GENOME_DK)
HGVS:: NC_000005.10:g.1237250_1237263del, NC_000005.10:g.1237253_1237263del, NC_000005.10:g.1237254_1237263del, NC_000005.10:g.1237255_1237263del, NC_000005.10:g.1237256_1237263del, NC_000005.10:g.1237257_1237263del, NC_000005.10:g.1237258_1237263del, NC_000005.10:g.1237259_1237263del, NC_000005.10:g.1237260_1237263del, NC_000005.10:g.1237261_1237263del, NC_000005.10:g.1237262_1237263del, NC_000005.10:g.1237263del, NC_000005.10:g.1237263dup, NC_000005.10:g.1237262_1237263dup, NC_000005.10:g.1237261_1237263dup, NC_000005.10:g.1237260_1237263dup, NC_000005.10:g.1237259_1237263dup, NC_000005.10:g.1237258_1237263dup, NC_000005.10:g.1237254_1237263dup, NC_000005.10:g.1237253_1237263dup, NC_000005.10:g.1237252_1237263dup, NC_000005.10:g.1237251_1237263dup, NC_000005.10:g.1237250_1237263dup, NC_000005.10:g.1237249_1237263dup, NC_000005.10:g.1237248_1237263dup, NC_000005.10:g.1237246_1237263dup, NC_000005.9:g.1237365_1237378del, NC_000005.9:g.1237368_1237378del, NC_000005.9:g.1237369_1237378del, NC_000005.9:g.1237370_1237378del, NC_000005.9:g.1237371_1237378del, NC_000005.9:g.1237372_1237378del, NC_000005.9:g.1237373_1237378del, NC_000005.9:g.1237374_1237378del, NC_000005.9:g.1237375_1237378del, NC_000005.9:g.1237376_1237378del, NC_000005.9:g.1237377_1237378del, NC_000005.9:g.1237378del, NC_000005.9:g.1237378dup, NC_000005.9:g.1237377_1237378dup, NC_000005.9:g.1237376_1237378dup, NC_000005.9:g.1237375_1237378dup, NC_000005.9:g.1237374_1237378dup, NC_000005.9:g.1237373_1237378dup, NC_000005.9:g.1237369_1237378dup, NC_000005.9:g.1237368_1237378dup, NC_000005.9:g.1237367_1237378dup, NC_000005.9:g.1237366_1237378dup, NC_000005.9:g.1237365_1237378dup, NC_000005.9:g.1237364_1237378dup, NC_000005.9:g.1237363_1237378dup, NC_000005.9:g.1237361_1237378dup

Select item 14912900204.

rs1491290020 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:1237240 (GRCh38)
5:1237355 (GRCh37)
Canonical SPDI:: NC_000005.10:1237239:CA:
Gene:: SLC6A18 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000005.10:g.1237240_1237241del, NC_000005.9:g.1237355_1237356del

Select item 14911197335.

rs1491119733 has merged into rs61528804 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:1237250 (GRCh38)
5:1237365 (GRCh37)
Canonical SPDI:: NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1237240:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SLC6A18 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.4/16 (GENOME_DK)
HGVS:: NC_000005.10:g.1237250_1237263del, NC_000005.10:g.1237253_1237263del, NC_000005.10:g.1237254_1237263del, NC_000005.10:g.1237255_1237263del, NC_000005.10:g.1237256_1237263del, NC_000005.10:g.1237257_1237263del, NC_000005.10:g.1237258_1237263del, NC_000005.10:g.1237259_1237263del, NC_000005.10:g.1237260_1237263del, NC_000005.10:g.1237261_1237263del, NC_000005.10:g.1237262_1237263del, NC_000005.10:g.1237263del, NC_000005.10:g.1237263dup, NC_000005.10:g.1237262_1237263dup, NC_000005.10:g.1237261_1237263dup, NC_000005.10:g.1237260_1237263dup, NC_000005.10:g.1237259_1237263dup, NC_000005.10:g.1237258_1237263dup, NC_000005.10:g.1237254_1237263dup, NC_000005.10:g.1237253_1237263dup, NC_000005.10:g.1237252_1237263dup, NC_000005.10:g.1237251_1237263dup, NC_000005.10:g.1237250_1237263dup, NC_000005.10:g.1237249_1237263dup, NC_000005.10:g.1237248_1237263dup, NC_000005.10:g.1237246_1237263dup, NC_000005.9:g.1237365_1237378del, NC_000005.9:g.1237368_1237378del, NC_000005.9:g.1237369_1237378del, NC_000005.9:g.1237370_1237378del, NC_000005.9:g.1237371_1237378del, NC_000005.9:g.1237372_1237378del, NC_000005.9:g.1237373_1237378del, NC_000005.9:g.1237374_1237378del, NC_000005.9:g.1237375_1237378del, NC_000005.9:g.1237376_1237378del, NC_000005.9:g.1237377_1237378del, NC_000005.9:g.1237378del, NC_000005.9:g.1237378dup, NC_000005.9:g.1237377_1237378dup, NC_000005.9:g.1237376_1237378dup, NC_000005.9:g.1237375_1237378dup, NC_000005.9:g.1237374_1237378dup, NC_000005.9:g.1237373_1237378dup, NC_000005.9:g.1237369_1237378dup, NC_000005.9:g.1237368_1237378dup, NC_000005.9:g.1237367_1237378dup, NC_000005.9:g.1237366_1237378dup, NC_000005.9:g.1237365_1237378dup, NC_000005.9:g.1237364_1237378dup, NC_000005.9:g.1237363_1237378dup, NC_000005.9:g.1237361_1237378dup

Select item 14910357556.

rs1491035755 [Homo sapiens]

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

Select item 14909139797.

rs1490913979 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:1234652 (GRCh38)
5:1234767 (GRCh37)
Canonical SPDI:: NC_000005.10:1234651:G:A
Gene:: SLC6A18 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000084/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.1234652G>A, NC_000005.9:g.1234767G>A

Select item 14906703618.

rs1490670361 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:1223843 (GRCh38)
5:1223958 (GRCh37)
Canonical SPDI:: NC_000005.10:1223842:G:A
Gene:: SLC6A19 (Varview), SLC6A18 (Varview)
Functional Consequence:: 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
A=0.000071/1 (TOMMO)
HGVS:: NC_000005.10:g.1223843G>A, NC_000005.9:g.1223958G>A, NG_008282.1:g.27249G>A, NM_001003841.3:c.*1939G>A, NM_001003841.2:c.*1939G>A

Select item 14906608909.

rs1490660890 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:1246034 (GRCh38)
5:1246149 (GRCh37)
Canonical SPDI:: NC_000005.10:1246033:A:G
Gene:: SLC6A18 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.00008/1 (ALFA)
HGVS:: NC_000005.10:g.1246034A>G, NC_000005.9:g.1246149A>G, NM_182632.3:c.1843A>G, NM_182632.2:c.1843A>G, NP_872438.2:p.Thr615Ala

Select item 149064520810.

rs1490645208 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:1246670 (GRCh38)
5:1246785 (GRCh37)
Canonical SPDI:: NC_000005.10:1246669:C:A
Gene:: SLC6A18 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.1246670C>A, NC_000005.9:g.1246785C>A

Select item 149043281911.

rs1490432819 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:1228339 (GRCh38)
5:1228454 (GRCh37)
Canonical SPDI:: NC_000005.10:1228338:T:G
Gene:: SLC6A18 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.1228339T>G, NC_000005.9:g.1228454T>G

Select item 149038355012.

rs1490383550 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:1240028 (GRCh38)
5:1240143 (GRCh37)
Canonical SPDI:: NC_000005.10:1240027:G:A
Gene:: SLC6A18 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.1240028G>A, NC_000005.9:g.1240143G>A

Select item 149030561713.

rs1490305617 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:1244571 (GRCh38)
5:1244686 (GRCh37)
Canonical SPDI:: NC_000005.10:1244570:C:T
Gene:: SLC6A18 (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_000005.10:g.1244571C>T, NC_000005.9:g.1244686C>T

Select item 149011397414.

rs1490113974 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:1227526 (GRCh38)
5:1227641 (GRCh37)
Canonical SPDI:: NC_000005.10:1227525:T:C
Gene:: SLC6A18 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.1227526T>C, NC_000005.9:g.1227641T>C

Select item 149003977515.

rs1490039775 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 5:1237508 (GRCh38)
5:1237623 (GRCh37)
Canonical SPDI:: NC_000005.10:1237507:GG:G
Gene:: SLC6A18 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.1237509del, NC_000005.9:g.1237624del

Select item 148979611216.

rs1489796112 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:1245786 (GRCh38)
5:1245901 (GRCh37)
Canonical SPDI:: NC_000005.10:1245785:A:T
Gene:: SLC6A18 (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)
HGVS:: NC_000005.10:g.1245786A>T, NC_000005.9:g.1245901A>T

Select item 148972800017.

rs1489728000 [Homo sapiens]

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

Select item 148971882018.

rs1489718820 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:1244694 (GRCh38)
5:1244809 (GRCh37)
Canonical SPDI:: NC_000005.10:1244693:T:A
Gene:: SLC6A18 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.1244694T>A, NC_000005.9:g.1244809T>A, NM_182632.3:c.1583T>A, NM_182632.2:c.1583T>A, NP_872438.2:p.Leu528Gln

Select item 148970050319.

rs1489700503 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 5:1230144 (GRCh38)
5:1230259 (GRCh37)
Canonical SPDI:: NC_000005.10:1230143:C:
Gene:: SLC6A18 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00219/4 (Korea1K)
-=0.00457/77 (TOMMO)
HGVS:: NC_000005.10:g.1230144del, NC_000005.9:g.1230259del

Select item 148958948020.

rs1489589480 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 5:1230197 (GRCh38)
5:1230312 (GRCh37)
Canonical SPDI:: NC_000005.10:1230196:A:G,NC_000005.10:1230196:A:T
Gene:: SLC6A18 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
G=0.02089/61 (KOREAN)
HGVS:: NC_000005.10:g.1230197A>G, NC_000005.10:g.1230197A>T, NC_000005.9:g.1230312A>G, NC_000005.9:g.1230312A>T

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