SNP Links for Gene (Select 388552) - SNP

Links from Gene

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Select item 14915553711.

rs1491555371 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:45193132 (GRCh38)
19:45696390 (GRCh37)
Canonical SPDI:: NC_000019.10:45193131:CA:
Gene:: BLOC1S3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000019.10:g.45193132_45193133del, NC_000019.9:g.45696390_45696391del

Select item 14914450252.

rs1491445025 [Homo sapiens]

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

Select item 14913670043.

rs1491367004 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 19:45202210 (GRCh38)
19:45705468 (GRCh37)
Canonical SPDI:: NC_000019.10:45202209:TA:
Gene:: BLOC1S3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000019.10:g.45202210_45202211del, NC_000019.9:g.45705468_45705469del

Select item 14913530404.

rs1491353040 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:45197824 (GRCh38)
19:45701082 (GRCh37)
Canonical SPDI:: NC_000019.10:45197823:CA:
Gene:: BLOC1S3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00042/5 (ALFA)
HGVS:: NC_000019.10:g.45197824_45197825del, NC_000019.9:g.45701082_45701083del

Select item 14913411295.

rs1491341129 has merged into rs369046871 [Homo sapiens]

Variant type:: DELINS
Alleles:: GC>-,GCGC,GCGCGC,GCGCGCGC [Show Flanks]
Chromosome:: 19:45177191 (GRCh38)
19:45680449 (GRCh37)
Canonical SPDI:: NC_000019.10:45177186:GCGCGC:GCGC,NC_000019.10:45177186:GCGCGC:GCGCGCGC,NC_000019.10:45177186:GCGCGC:GCGCGCGCGC,NC_000019.10:45177186:GCGCGC:GCGCGCGCGCGC
Gene:: TRAPPC6A (Varview), BLOC1S3 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCGCGCGCGCGC=0./0 (ALFA)
-=0.00644/107 (TOMMO)
HGVS:: NC_000019.10:g.45177187GC[2], NC_000019.10:g.45177187GC[4], NC_000019.10:g.45177187GC[5], NC_000019.10:g.45177187GC[6], NC_000019.9:g.45680445GC[2], NC_000019.9:g.45680445GC[4], NC_000019.9:g.45680445GC[5], NC_000019.9:g.45680445GC[6], NG_033044.1:g.6052GC[2], NG_033044.1:g.6052GC[4], NG_033044.1:g.6052GC[5], NG_033044.1:g.6052GC[6], NG_008372.1:g.3443GC[2], NG_008372.1:g.3443GC[4], NG_008372.1:g.3443GC[5], NG_008372.1:g.3443GC[6]

Select item 14913374556.

rs1491337455 [Homo sapiens]

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

Select item 14913315407.

rs1491331540 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTTTC [Show Flanks]
Chromosome:: 19:45199334 (GRCh38)
19:45702593 (GRCh37)
Canonical SPDI:: NC_000019.10:45199334::TTTTC
Gene:: BLOC1S3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: TTTTC=0.000018/2 (GnomAD)
HGVS:: NC_000019.10:g.45199334_45199335insTTTTC, NC_000019.9:g.45702592_45702593insTTTTC

Select item 14912372558.

rs1491237255 has merged into rs71173123 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:45193144 (GRCh38)
19:45696402 (GRCh37)
Canonical SPDI:: NC_000019.10:45193132:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:45193132:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:45193132:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:45193132:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:45193132:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:45193132:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:45193132:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:45193132:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:45193132:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:45193132:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:45193132:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45193132:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45193132:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45193132:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45193132:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45193132:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45193132:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45193132:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45193132:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45193132:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45193132:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45193132:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45193132:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45193132:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45193132:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45193132:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45193132:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45193132:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45193132:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45193132:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45193132:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45193132:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45193132:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45193132:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45193132:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45193132:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45193132:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45193132:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45193132:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45193132:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45193132:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: BLOC1S3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
AAAAAAAA=0./0 (GENOME_DK)
HGVS:: NC_000019.10:g.45193144_45193160del, NC_000019.10:g.45193145_45193160del, NC_000019.10:g.45193146_45193160del, NC_000019.10:g.45193147_45193160del, NC_000019.10:g.45193148_45193160del, NC_000019.10:g.45193149_45193160del, NC_000019.10:g.45193150_45193160del, NC_000019.10:g.45193151_45193160del, NC_000019.10:g.45193152_45193160del, NC_000019.10:g.45193153_45193160del, NC_000019.10:g.45193154_45193160del, NC_000019.10:g.45193155_45193160del, NC_000019.10:g.45193156_45193160del, NC_000019.10:g.45193157_45193160del, NC_000019.10:g.45193158_45193160del, NC_000019.10:g.45193159_45193160del, NC_000019.10:g.45193160del, NC_000019.10:g.45193160dup, NC_000019.10:g.45193159_45193160dup, NC_000019.10:g.45193158_45193160dup, NC_000019.10:g.45193157_45193160dup, NC_000019.10:g.45193156_45193160dup, NC_000019.10:g.45193155_45193160dup, NC_000019.10:g.45193154_45193160dup, NC_000019.10:g.45193153_45193160dup, NC_000019.10:g.45193152_45193160dup, NC_000019.10:g.45193151_45193160dup, NC_000019.10:g.45193150_45193160dup, NC_000019.10:g.45193149_45193160dup, NC_000019.10:g.45193148_45193160dup, NC_000019.10:g.45193147_45193160dup, NC_000019.10:g.45193144_45193160dup, NC_000019.10:g.45193142_45193160dup, NC_000019.10:g.45193141_45193160dup, NC_000019.10:g.45193134_45193160dup, NC_000019.10:g.45193160_45193161insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.45193160_45193161insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.45193160_45193161insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.45193160_45193161insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.45193160_45193161insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.45193160_45193161insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.45696402_45696418del, NC_000019.9:g.45696403_45696418del, NC_000019.9:g.45696404_45696418del, NC_000019.9:g.45696405_45696418del, NC_000019.9:g.45696406_45696418del, NC_000019.9:g.45696407_45696418del, NC_000019.9:g.45696408_45696418del, NC_000019.9:g.45696409_45696418del, NC_000019.9:g.45696410_45696418del, NC_000019.9:g.45696411_45696418del, NC_000019.9:g.45696412_45696418del, NC_000019.9:g.45696413_45696418del, NC_000019.9:g.45696414_45696418del, NC_000019.9:g.45696415_45696418del, NC_000019.9:g.45696416_45696418del, NC_000019.9:g.45696417_45696418del, NC_000019.9:g.45696418del, NC_000019.9:g.45696418dup, NC_000019.9:g.45696417_45696418dup, NC_000019.9:g.45696416_45696418dup, NC_000019.9:g.45696415_45696418dup, NC_000019.9:g.45696414_45696418dup, NC_000019.9:g.45696413_45696418dup, NC_000019.9:g.45696412_45696418dup, NC_000019.9:g.45696411_45696418dup, NC_000019.9:g.45696410_45696418dup, NC_000019.9:g.45696409_45696418dup, NC_000019.9:g.45696408_45696418dup, NC_000019.9:g.45696407_45696418dup, NC_000019.9:g.45696406_45696418dup, NC_000019.9:g.45696405_45696418dup, NC_000019.9:g.45696402_45696418dup, NC_000019.9:g.45696400_45696418dup, NC_000019.9:g.45696399_45696418dup, NC_000019.9:g.45696392_45696418dup, NC_000019.9:g.45696418_45696419insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.45696418_45696419insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.45696418_45696419insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.45696418_45696419insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.45696418_45696419insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.45696418_45696419insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14912131159.

rs1491213115 has merged into rs59295257 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:45202223 (GRCh38)
19:45705481 (GRCh37)
Canonical SPDI:: NC_000019.10:45202210:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:45202210:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:45202210:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:45202210:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:45202210:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:45202210:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:45202210:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:45202210:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:45202210:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:45202210:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45202210:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45202210:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45202210:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45202210:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45202210:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45202210:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45202210:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45202210:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: BLOC1S3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
AA=0.025/1 (GENOME_DK)
HGVS:: NC_000019.10:g.45202223_45202237del, NC_000019.10:g.45202224_45202237del, NC_000019.10:g.45202225_45202237del, NC_000019.10:g.45202226_45202237del, NC_000019.10:g.45202227_45202237del, NC_000019.10:g.45202228_45202237del, NC_000019.10:g.45202229_45202237del, NC_000019.10:g.45202230_45202237del, NC_000019.10:g.45202231_45202237del, NC_000019.10:g.45202232_45202237del, NC_000019.10:g.45202233_45202237del, NC_000019.10:g.45202234_45202237del, NC_000019.10:g.45202235_45202237del, NC_000019.10:g.45202236_45202237del, NC_000019.10:g.45202237del, NC_000019.10:g.45202237dup, NC_000019.10:g.45202236_45202237dup, NC_000019.10:g.45202235_45202237dup, NC_000019.9:g.45705481_45705495del, NC_000019.9:g.45705482_45705495del, NC_000019.9:g.45705483_45705495del, NC_000019.9:g.45705484_45705495del, NC_000019.9:g.45705485_45705495del, NC_000019.9:g.45705486_45705495del, NC_000019.9:g.45705487_45705495del, NC_000019.9:g.45705488_45705495del, NC_000019.9:g.45705489_45705495del, NC_000019.9:g.45705490_45705495del, NC_000019.9:g.45705491_45705495del, NC_000019.9:g.45705492_45705495del, NC_000019.9:g.45705493_45705495del, NC_000019.9:g.45705494_45705495del, NC_000019.9:g.45705495del, NC_000019.9:g.45705495dup, NC_000019.9:g.45705494_45705495dup, NC_000019.9:g.45705493_45705495dup

Select item 149114961810.

rs1491149618 has merged into rs563420112 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 19:45176883 (GRCh38)
19:45680141 (GRCh37)
Canonical SPDI:: NC_000019.10:45176869:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:45176869:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:45176869:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:45176869:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:45176869:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:45176869:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: TRAPPC6A (Varview), BLOC1S3 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.075/3 (GENOME_DK)
-=0.08528/51 (NorthernSweden)
-=0.10872/419 (ALSPAC)
-=0.11192/415 (TWINSUK)
-=0.11542/578 (1000Genomes)
HGVS:: NC_000019.10:g.45176883_45176884del, NC_000019.10:g.45176884del, NC_000019.10:g.45176884dup, NC_000019.10:g.45176883_45176884dup, NC_000019.10:g.45176882_45176884dup, NC_000019.10:g.45176881_45176884dup, NC_000019.9:g.45680141_45680142del, NC_000019.9:g.45680142del, NC_000019.9:g.45680142dup, NC_000019.9:g.45680141_45680142dup, NC_000019.9:g.45680140_45680142dup, NC_000019.9:g.45680139_45680142dup, NG_033044.1:g.6373_6374del, NG_033044.1:g.6374del, NG_033044.1:g.6374dup, NG_033044.1:g.6373_6374dup, NG_033044.1:g.6372_6374dup, NG_033044.1:g.6371_6374dup, NG_008372.1:g.3139_3140del, NG_008372.1:g.3140del, NG_008372.1:g.3140dup, NG_008372.1:g.3139_3140dup, NG_008372.1:g.3138_3140dup, NG_008372.1:g.3137_3140dup

Select item 149111839611.

rs1491118396 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 19:45199334 (GRCh38)
19:45702592 (GRCh37)
Canonical SPDI:: NC_000019.10:45199333:TG:
Gene:: BLOC1S3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000019.10:g.45199334_45199335del, NC_000019.9:g.45702592_45702593del

Select item 149109390012.

rs1491093900 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCGCACACACACAC [Show Flanks]
Chromosome:: 19:45177187 (GRCh38)
19:45680446 (GRCh37)
Canonical SPDI:: NC_000019.10:45177187:CGCGCACACACACAC:CGCGCACACACACACGCGCACACACACAC
Gene:: TRAPPC6A (Varview), BLOC1S3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGCGCACACACACACGCGCACACACACAC=0./0 (ALFA)
CGCGCACACACACA=0.00009/8 (GnomAD)
HGVS:: NC_000019.10:g.45177189_45177202dup, NC_000019.9:g.45680447_45680460dup, NG_033044.1:g.6043_6056dup, NG_008372.1:g.3445_3458dup

Select item 149107546113.

rs1491075461 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 19:45197509 (GRCh38)
19:45700767 (GRCh37)
Canonical SPDI:: NC_000019.10:45197507:AGA:A
Gene:: BLOC1S3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000422/5 (ALFA)
-=0.000282/36 (GnomAD)
-=0.000354/10 (TOMMO)
HGVS:: NC_000019.10:g.45197509_45197510del, NC_000019.9:g.45700767_45700768del

Select item 149089723114.

rs1490897231 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:45195585 (GRCh38)
19:45698843 (GRCh37)
Canonical SPDI:: NC_000019.10:45195584:C:G,NC_000019.10:45195584:C:T
Gene:: BLOC1S3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
G=0.000008/1 (GnomAD)
HGVS:: NC_000019.10:g.45195585C>G, NC_000019.10:g.45195585C>T, NC_000019.9:g.45698843C>G, NC_000019.9:g.45698843C>T

Select item 149085811415.

rs1490858114 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:45181519 (GRCh38)
19:45684777 (GRCh37)
Canonical SPDI:: NC_000019.10:45181518:A:G
Gene:: BLOC1S3 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.45181519A>G, NC_000019.9:g.45684777A>G, NG_033044.1:g.1725T>C, NG_008372.1:g.7775A>G, NM_212550.5:c.*1614A>G, NM_212550.4:c.*1614A>G, NM_212550.3:c.*1614A>G

Select item 149083677716.

rs1490836777 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:45189492 (GRCh38)
19:45692750 (GRCh37)
Canonical SPDI:: NC_000019.10:45189491:G:C
Gene:: BLOC1S3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.45189492G>C, NC_000019.9:g.45692750G>C

Select item 149077598117.

rs1490775981 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:45191481 (GRCh38)
19:45694739 (GRCh37)
Canonical SPDI:: NC_000019.10:45191480:T:C
Gene:: BLOC1S3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.0004/2 (ALFA)
C=0.0002/1 (Estonian)
HGVS:: NC_000019.10:g.45191481T>C, NC_000019.9:g.45694739T>C

Select item 149070683818.

rs1490706838 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:45202772 (GRCh38)
19:45706030 (GRCh37)
Canonical SPDI:: NC_000019.10:45202771:C:T
Gene:: BLOC1S3 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000023/6 (TOPMED)
T=0.000212/4 (TOMMO)
T=0.000546/1 (Korea1K)
HGVS:: NC_000019.10:g.45202772C>T, NC_000019.9:g.45706030C>T, XR_007066810.1:n.1335C>T

Select item 149062651919.

rs1490626519 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:45192774 (GRCh38)
19:45696032 (GRCh37)
Canonical SPDI:: NC_000019.10:45192773:G:A
Gene:: BLOC1S3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,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_000019.10:g.45192774G>A, NC_000019.9:g.45696032G>A

Select item 149061082020.

rs1490610820 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:45190904 (GRCh38)
19:45694162 (GRCh37)
Canonical SPDI:: NC_000019.10:45190903:C:G
Gene:: BLOC1S3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
HGVS:: NC_000019.10:g.45190904C>G, NC_000019.9:g.45694162C>G

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