SNP Links for Gene (Select 6570) - SNP

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Select item 14913614801.

rs1491361480 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: 8:20166290 (GRCh38)
8:20023802 (GRCh37)
Canonical SPDI:: NC_000008.11:20166290:A:ACA
Gene:: SLC18A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ACA=0./0 (ALFA)
HGVS:: NC_000008.11:g.20166291_20166292insCA, NC_000008.10:g.20023802_20023803insCA

Select item 14912802812.

rs1491280281 has merged into rs72376505 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 8:20173903 (GRCh38)
8:20031414 (GRCh37)
Canonical SPDI:: NC_000008.11:20173895:TTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000008.11:20173895:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:20173895:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:20173895:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:20173895:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:20173895:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:20173895:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:20173895:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:20173895:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:20173895:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:20173895:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:20173895:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:20173895:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:20173895:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:20173895:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SLC18A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
T=0.425/17 (GENOME_DK)
HGVS:: NC_000008.11:g.20173903_20173914del, NC_000008.11:g.20173907_20173914del, NC_000008.11:g.20173908_20173914del, NC_000008.11:g.20173909_20173914del, NC_000008.11:g.20173910_20173914del, NC_000008.11:g.20173911_20173914del, NC_000008.11:g.20173912_20173914del, NC_000008.11:g.20173913_20173914del, NC_000008.11:g.20173914del, NC_000008.11:g.20173914dup, NC_000008.11:g.20173913_20173914dup, NC_000008.11:g.20173912_20173914dup, NC_000008.11:g.20173911_20173914dup, NC_000008.11:g.20173910_20173914dup, NC_000008.11:g.20173909_20173914dup, NC_000008.10:g.20031414_20031425del, NC_000008.10:g.20031418_20031425del, NC_000008.10:g.20031419_20031425del, NC_000008.10:g.20031420_20031425del, NC_000008.10:g.20031421_20031425del, NC_000008.10:g.20031422_20031425del, NC_000008.10:g.20031423_20031425del, NC_000008.10:g.20031424_20031425del, NC_000008.10:g.20031425del, NC_000008.10:g.20031425dup, NC_000008.10:g.20031424_20031425dup, NC_000008.10:g.20031423_20031425dup, NC_000008.10:g.20031422_20031425dup, NC_000008.10:g.20031421_20031425dup, NC_000008.10:g.20031420_20031425dup

Select item 14911768463.

rs1491176846 has merged into rs34048931 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 8:20156269 (GRCh38)
8:20013780 (GRCh37)
Canonical SPDI:: NC_000008.11:20156257:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:20156257:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:20156257:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:20156257:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:20156257:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:20156257:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:20156257:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:20156257:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: SLC18A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.3739/1260 (1000Genomes)
HGVS:: NC_000008.11:g.20156269_20156273del, NC_000008.11:g.20156270_20156273del, NC_000008.11:g.20156271_20156273del, NC_000008.11:g.20156272_20156273del, NC_000008.11:g.20156273del, NC_000008.11:g.20156273dup, NC_000008.11:g.20156272_20156273dup, NC_000008.11:g.20156271_20156273dup, NC_000008.10:g.20013780_20013784del, NC_000008.10:g.20013781_20013784del, NC_000008.10:g.20013782_20013784del, NC_000008.10:g.20013783_20013784del, NC_000008.10:g.20013784del, NC_000008.10:g.20013784dup, NC_000008.10:g.20013783_20013784dup, NC_000008.10:g.20013782_20013784dup

Select item 14911666814.

rs1491166681 [Homo sapiens]

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

Select item 14911448345.

rs1491144834 has merged into rs1181101416 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATATATATATATATATATA>-,TA,TATA,TATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATA [Show Flanks]
Chromosome:: 8:20166310 (GRCh38)
8:20023821 (GRCh37)
Canonical SPDI:: NC_000008.11:20166289:TATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATA,NC_000008.11:20166289:TATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATA,NC_000008.11:20166289:TATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATA,NC_000008.11:20166289:TATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATA,NC_000008.11:20166289:TATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATA,NC_000008.11:20166289:TATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATA,NC_000008.11:20166289:TATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATA,NC_000008.11:20166289:TATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATA,NC_000008.11:20166289:TATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATA,NC_000008.11:20166289:TATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATA,NC_000008.11:20166289:TATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATA,NC_000008.11:20166289:TATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATA,NC_000008.11:20166289:TATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATA,NC_000008.11:20166289:TATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATA,NC_000008.11:20166289:TATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000008.11:20166289:TATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000008.11:20166289:TATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000008.11:20166289:TATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000008.11:20166289:TATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATA
Gene:: SLC18A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATATATA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.20166290TA[10], NC_000008.11:g.20166290TA[11], NC_000008.11:g.20166290TA[12], NC_000008.11:g.20166290TA[13], NC_000008.11:g.20166290TA[14], NC_000008.11:g.20166290TA[15], NC_000008.11:g.20166290TA[16], NC_000008.11:g.20166290TA[17], NC_000008.11:g.20166290TA[18], NC_000008.11:g.20166290TA[19], NC_000008.11:g.20166290TA[20], NC_000008.11:g.20166290TA[22], NC_000008.11:g.20166290TA[23], NC_000008.11:g.20166290TA[24], NC_000008.11:g.20166290TA[25], NC_000008.11:g.20166290TA[26], NC_000008.11:g.20166290TA[27], NC_000008.11:g.20166290TA[28], NC_000008.11:g.20166290TA[29], NC_000008.10:g.20023801TA[10], NC_000008.10:g.20023801TA[11], NC_000008.10:g.20023801TA[12], NC_000008.10:g.20023801TA[13], NC_000008.10:g.20023801TA[14], NC_000008.10:g.20023801TA[15], NC_000008.10:g.20023801TA[16], NC_000008.10:g.20023801TA[17], NC_000008.10:g.20023801TA[18], NC_000008.10:g.20023801TA[19], NC_000008.10:g.20023801TA[20], NC_000008.10:g.20023801TA[22], NC_000008.10:g.20023801TA[23], NC_000008.10:g.20023801TA[24], NC_000008.10:g.20023801TA[25], NC_000008.10:g.20023801TA[26], NC_000008.10:g.20023801TA[27], NC_000008.10:g.20023801TA[28], NC_000008.10:g.20023801TA[29]

Select item 14911196356.

rs1491119635 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 8:20151157 (GRCh38)
8:20008669 (GRCh37)
Canonical SPDI:: NC_000008.11:20151157:G:GG
Gene:: SLC18A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.000015/2 (GnomAD)
HGVS:: NC_000008.11:g.20151158dup, NC_000008.10:g.20008669dup

Select item 14910845297.

rs1491084529 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCTCTCTCTC [Show Flanks]
Chromosome:: 8:20149575 (GRCh38)
8:20007087 (GRCh37)
Canonical SPDI:: NC_000008.11:20149575:CTCTCTCTC:CTCTCTCTCCCTCTCTCTC
Gene:: SLC18A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCTCTCTCCCTCTCTCTC=0./0 (ALFA)
CTCTCTCTCC=0.000004/1 (TOPMED)
CTCTCTCTCC=0.000008/1 (GnomAD)
CTCTCTCTCC=0.000106/2 (TOMMO)
HGVS:: NC_000008.11:g.20149576_20149584CT[4]CCCTCTCTCTC[1], NC_000008.10:g.20007087_20007095CT[4]CCCTCTCTCTC[1]

Select item 14910532528.

rs1491053252 has merged into rs71532224 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTT,TTTT [Show Flanks]
Chromosome:: 8:20153225 (GRCh38)
8:20010736 (GRCh37)
Canonical SPDI:: NC_000008.11:20153218:TTTTTTTT:TTTTTT,NC_000008.11:20153218:TTTTTTTT:TTTTTTTTT,NC_000008.11:20153218:TTTTTTTT:TTTTTTTTTT
Gene:: SLC18A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0.000072/1 (ALFA)
-=0.000004/1 (TOPMED)
T=0.138757/2326 (TOMMO)
T=0.201667/121 (NorthernSweden)
T=0.229459/229 (GoNL)
T=0.256479/1148 (Estonian)
HGVS:: NC_000008.11:g.20153225_20153226del, NC_000008.11:g.20153226dup, NC_000008.11:g.20153225_20153226dup, NC_000008.10:g.20010736_20010737del, NC_000008.10:g.20010737dup, NC_000008.10:g.20010736_20010737dup

Select item 14910436999.

rs1491043699 has merged into rs112531759 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 8:20180130 (GRCh38)
8:20037641 (GRCh37)
Canonical SPDI:: NC_000008.11:20180108:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000008.11:20180108:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:20180108:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:20180108:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:20180108:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:20180108:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:20180108:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:20180108:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:20180108:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:20180108:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:20180108:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:20180108:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:20180108:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:20180108:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:20180108:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:20180108:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:20180108:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:20180108:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:20180108:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: SLC18A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
TGTGTG=0.1394/698 (1000Genomes)
HGVS:: NC_000008.11:g.20180110GT[10], NC_000008.11:g.20180110GT[11], NC_000008.11:g.20180110GT[12], NC_000008.11:g.20180110GT[13], NC_000008.11:g.20180110GT[14], NC_000008.11:g.20180110GT[15], NC_000008.11:g.20180110GT[16], NC_000008.11:g.20180110GT[18], NC_000008.11:g.20180110GT[19], NC_000008.11:g.20180110GT[20], NC_000008.11:g.20180110GT[21], NC_000008.11:g.20180110GT[22], NC_000008.11:g.20180110GT[23], NC_000008.11:g.20180110GT[24], NC_000008.11:g.20180110GT[25], NC_000008.11:g.20180110GT[26], NC_000008.11:g.20180110GT[27], NC_000008.11:g.20180110GT[28], NC_000008.11:g.20180110GT[29], NC_000008.10:g.20037621GT[10], NC_000008.10:g.20037621GT[11], NC_000008.10:g.20037621GT[12], NC_000008.10:g.20037621GT[13], NC_000008.10:g.20037621GT[14], NC_000008.10:g.20037621GT[15], NC_000008.10:g.20037621GT[16], NC_000008.10:g.20037621GT[18], NC_000008.10:g.20037621GT[19], NC_000008.10:g.20037621GT[20], NC_000008.10:g.20037621GT[21], NC_000008.10:g.20037621GT[22], NC_000008.10:g.20037621GT[23], NC_000008.10:g.20037621GT[24], NC_000008.10:g.20037621GT[25], NC_000008.10:g.20037621GT[26], NC_000008.10:g.20037621GT[27], NC_000008.10:g.20037621GT[28], NC_000008.10:g.20037621GT[29]

Select item 149103881810.

rs1491038818 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 8:20151147 (GRCh38)
8:20008658 (GRCh37)
Canonical SPDI:: NC_000008.11:20151145:TGT:T
Gene:: SLC18A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.01307/155 (ALFA)
-=0.00026/4 (TOMMO)
-=0.00039/27 (GnomAD)
HGVS:: NC_000008.11:g.20151147_20151148del, NC_000008.10:g.20008658_20008659del

Select item 149099729811.

rs1490997298 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:20168247 (GRCh38)
8:20025758 (GRCh37)
Canonical SPDI:: NC_000008.11:20168246:G:A
Gene:: SLC18A1 (Varview)
Functional Consequence:: 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_000008.11:g.20168247G>A, NC_000008.10:g.20025758G>A

Select item 149077695012.

rs1490776950 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:20146273 (GRCh38)
8:20003784 (GRCh37)
Canonical SPDI:: NC_000008.11:20146272:C:A
Gene:: SLC18A1 (Varview)
Functional Consequence:: intron_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_000008.11:g.20146273C>A, NC_000008.10:g.20003784C>A

Select item 149072314113.

rs1490723141 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:20157252 (GRCh38)
8:20014763 (GRCh37)
Canonical SPDI:: NC_000008.11:20157251:A:T
Gene:: SLC18A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000008.11:g.20157252A>T, NC_000008.10:g.20014763A>T

Select item 149069584814.

rs1490695848 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:20167587 (GRCh38)
8:20025098 (GRCh37)
Canonical SPDI:: NC_000008.11:20167586:A:G
Gene:: SLC18A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.20167587A>G, NC_000008.10:g.20025098A>G

Select item 149067641115.

rs1490676411 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:20157336 (GRCh38)
8:20014847 (GRCh37)
Canonical SPDI:: NC_000008.11:20157335:G:A
Gene:: SLC18A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.20157336G>A, NC_000008.10:g.20014847G>A

Select item 149061515816.

rs1490615158 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 8:20173055 (GRCh38)
8:20030567 (GRCh37)
Canonical SPDI:: NC_000008.11:20173055:CCCCCC:CCCCCCC
Gene:: SLC18A1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCC=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.20173061dup, NC_000008.10:g.20030572dup, NM_003053.4:c.704dup, NM_003053.3:c.704dup, NM_001135691.3:c.704dup, NM_001135691.2:c.704dup, NM_001142324.2:c.704dup, NM_001142324.1:c.704dup, NM_001142325.2:c.704dup, NM_001142325.1:c.704dup, XM_011544625.2:c.620dup, XM_011544625.1:c.620dup, XM_011544626.2:c.704dup, XM_011544626.1:c.704dup, XM_047422119.1:c.620dup, NP_003044.1:p.Leu236fs, NP_001129163.1:p.Leu236fs, NP_001135796.1:p.Leu236fs, NP_001135797.1:p.Leu236fs, XP_011542927.1:p.Leu208fs, XP_011542928.1:p.Leu236fs, XP_047278075.1:p.Leu208fs

Select item 149061418517.

rs1490614185 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 8:20146641 (GRCh38)
8:20004152 (GRCh37)
Canonical SPDI:: NC_000008.11:20146640:GG:G
Gene:: SLC18A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.20146642del, NC_000008.10:g.20004153del

Select item 149053502418.

rs1490535024 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:20156010 (GRCh38)
8:20013521 (GRCh37)
Canonical SPDI:: NC_000008.11:20156009:T:C
Gene:: SLC18A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.20156010T>C, NC_000008.10:g.20013521T>C

Select item 149050870619.

rs1490508706 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:20151947 (GRCh38)
8:20009458 (GRCh37)
Canonical SPDI:: NC_000008.11:20151946:T:G
Gene:: SLC18A1 (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_000008.11:g.20151947T>G, NC_000008.10:g.20009458T>G

Select item 149048417820.

rs1490484178 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:20162347 (GRCh38)
8:20019858 (GRCh37)
Canonical SPDI:: NC_000008.11:20162346:G:A
Gene:: SLC18A1 (Varview)
Functional Consequence:: 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_000008.11:g.20162347G>A, NC_000008.10:g.20019858G>A

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