SNP Links for Nucleotide (Select 787168415) - SNP

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Links from Nucleotide

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Select item 14915693011.

rs1491569301 has merged into rs3048335 [Homo sapiens]

Variant type:: DELINS
Alleles:: AATAAATA>-,AATA,AATAAATAAATA [Show Flanks]
Chromosome:: 15:45610449 (GRCh38)
15:45902647 (GRCh37)
Canonical SPDI:: NC_000015.10:45610434:TAAATAAATAAATAAATAAATA:TAAATAAATAAATA,NC_000015.10:45610434:TAAATAAATAAATAAATAAATA:TAAATAAATAAATAAATA,NC_000015.10:45610434:TAAATAAATAAATAAATAAATA:TAAATAAATAAATAAATAAATAAATA
Validated:: by frequency,by alfa,by cluster
MAF:: TAAATAAATAAATAAATA=0./0 (ALFA)
-=0.06837/1146 (TOMMO)
-=0.075/3 (GENOME_DK)
-=0.106667/64 (NorthernSweden)
-=0.215864/57137 (TOPMED)
-=0.227037/1137 (1000Genomes)
HGVS:: NC_000015.10:g.45610437AATA[3], NC_000015.10:g.45610437AATA[4], NC_000015.10:g.45610437AATA[6], NC_000015.9:g.45902635AATA[3], NC_000015.9:g.45902635AATA[4], NC_000015.9:g.45902635AATA[6], NG_028194.2:g.28219AATA[3], NG_028194.2:g.28219AATA[4], NG_028194.2:g.28219AATA[6]

Select item 14914748162.

rs1491474816 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTA [Show Flanks]
Chromosome:: 15:45590425 (GRCh38)
15:45882624 (GRCh37)
Canonical SPDI:: NC_000015.10:45590425::TTA
Gene:: BLOC1S6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: TTA=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.45590425_45590426insTTA, NC_000015.9:g.45882623_45882624insTTA, NG_028194.2:g.8207_8208insTTA

Select item 14912257513.

rs1491225751 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 15:45610434 (GRCh38)
15:45902632 (GRCh37)
Canonical SPDI:: NC_000015.10:45610433:TT:
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000015.10:g.45610434_45610435del, NC_000015.9:g.45902632_45902633del, NG_028194.2:g.28216_28217del

Select item 14910745624.

rs1491074562 has merged into rs534760831 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 15:45584791 (GRCh38)
15:45876989 (GRCh37)
Canonical SPDI:: NC_000015.10:45584777:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:45584777:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:45584777:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:45584777:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:45584777:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:45584777:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.14493/720 (1000Genomes)
-=0.275/11 (GENOME_DK)
HGVS:: NC_000015.10:g.45584791_45584794del, NC_000015.10:g.45584792_45584794del, NC_000015.10:g.45584793_45584794del, NC_000015.10:g.45584794del, NC_000015.10:g.45584794dup, NC_000015.10:g.45584793_45584794dup, NC_000015.9:g.45876989_45876992del, NC_000015.9:g.45876990_45876992del, NC_000015.9:g.45876991_45876992del, NC_000015.9:g.45876992del, NC_000015.9:g.45876992dup, NC_000015.9:g.45876991_45876992dup, NG_028194.2:g.2573_2576del, NG_028194.2:g.2574_2576del, NG_028194.2:g.2575_2576del, NG_028194.2:g.2576del, NG_028194.2:g.2576dup, NG_028194.2:g.2575_2576dup

Select item 14910460945.

rs1491046094 has merged into rs368442198 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 15:45605586 (GRCh38)
15:45897784 (GRCh37)
Canonical SPDI:: NC_000015.10:45605573:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:45605573:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:45605573:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:45605573:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:45605573:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:45605573:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: BLOC1S6 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.106748/28255 (TOPMED)
-=0.132516/335 (1000Genomes)
HGVS:: NC_000015.10:g.45605586_45605587del, NC_000015.10:g.45605587del, NC_000015.10:g.45605587dup, NC_000015.10:g.45605574_45605587T[15]ATTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000015.10:g.45605586_45605587dup, NC_000015.10:g.45605587_45605588insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.45897784_45897785del, NC_000015.9:g.45897785del, NC_000015.9:g.45897785dup, NC_000015.9:g.45897772_45897785T[15]ATTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000015.9:g.45897784_45897785dup, NC_000015.9:g.45897785_45897786insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_028194.2:g.23368_23369del, NG_028194.2:g.23369del, NG_028194.2:g.23369dup, NG_028194.2:g.23356_23369T[15]ATTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_028194.2:g.23368_23369dup, NG_028194.2:g.23369_23370insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14910359106.

rs1491035910 has merged into rs376558938 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCC>-,C,CC,CCCC,CCCCC,CCCCCC [Show Flanks]
Chromosome:: 15:45612283 (GRCh38)
15:45904481 (GRCh37)
Canonical SPDI:: NC_000015.10:45612274:CCCCCCCCCCC:CCCCCCCC,NC_000015.10:45612274:CCCCCCCCCCC:CCCCCCCCC,NC_000015.10:45612274:CCCCCCCCCCC:CCCCCCCCCC,NC_000015.10:45612274:CCCCCCCCCCC:CCCCCCCCCCCC,NC_000015.10:45612274:CCCCCCCCCCC:CCCCCCCCCCCCC,NC_000015.10:45612274:CCCCCCCCCCC:CCCCCCCCCCCCCC
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCC=0./0 (ALFA)
-=0.02632/1 (GENOME_DK)
C=0.03177/19 (NorthernSweden)
HGVS:: NC_000015.10:g.45612283_45612285del, NC_000015.10:g.45612284_45612285del, NC_000015.10:g.45612285del, NC_000015.10:g.45612285dup, NC_000015.10:g.45612284_45612285dup, NC_000015.10:g.45612283_45612285dup, NC_000015.9:g.45904481_45904483del, NC_000015.9:g.45904482_45904483del, NC_000015.9:g.45904483del, NC_000015.9:g.45904483dup, NC_000015.9:g.45904482_45904483dup, NC_000015.9:g.45904481_45904483dup, NG_028194.2:g.30065_30067del, NG_028194.2:g.30066_30067del, NG_028194.2:g.30067del, NG_028194.2:g.30067dup, NG_028194.2:g.30066_30067dup, NG_028194.2:g.30065_30067dup

Select item 14909160697.

rs1490916069 [Homo sapiens]

Variant type:: DEL
Alleles:: AGA>- [Show Flanks]
Chromosome:: 15:45595058 (GRCh38)
15:45887256 (GRCh37)
Canonical SPDI:: NC_000015.10:45595057:AGA:
Gene:: BLOC1S6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.000193/27 (GnomAD)
HGVS:: NC_000015.10:g.45595058_45595060del, NC_000015.9:g.45887256_45887258del, NG_028194.2:g.12840_12842del

Select item 14908725978.

rs1490872597 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:45610261 (GRCh38)
15:45902459 (GRCh37)
Canonical SPDI:: NC_000015.10:45610260:G:A
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000015.10:g.45610261G>A, NC_000015.9:g.45902459G>A, NG_028194.2:g.28043G>A

Select item 14908691149.

rs1490869114 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:45592792 (GRCh38)
15:45884990 (GRCh37)
Canonical SPDI:: NC_000015.10:45592791:G:C
Gene:: BLOC1S6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.45592792G>C, NC_000015.9:g.45884990G>C, NG_028194.2:g.10574G>C

Select item 149082786110.

rs1490827861 [Homo sapiens]

Variant type:: DEL
Alleles:: GACCCTG>- [Show Flanks]
Chromosome:: 15:45610167 (GRCh38)
15:45902365 (GRCh37)
Canonical SPDI:: NC_000015.10:45610166:GACCCTG:
Gene:: BLOC1S6 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: -=0.000084/1 (ALFA)
-=0.000101/12 (GnomAD)
HGVS:: NC_000015.10:g.45610167_45610173del, NC_000015.9:g.45902365_45902371del, NG_028194.2:g.27949_27955del

Select item 149080995011.

rs1490809950 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:45616639 (GRCh38)
15:45908837 (GRCh37)
Canonical SPDI:: NC_000015.10:45616638:A:G
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000015.10:g.45616639A>G, NC_000015.9:g.45908837A>G, NG_028194.2:g.34421A>G

Select item 149078266212.

rs1490782662 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:45601104 (GRCh38)
15:45893302 (GRCh37)
Canonical SPDI:: NC_000015.10:45601103:A:G
Gene:: BLOC1S6 (Varview)
Functional Consequence:: intron_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_000015.10:g.45601104A>G, NC_000015.9:g.45893302A>G, NG_028194.2:g.18886A>G

Select item 149067842713.

rs1490678427 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:45612053 (GRCh38)
15:45904251 (GRCh37)
Canonical SPDI:: NC_000015.10:45612052:A:C
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000049/13 (TOPMED)
C=0.00005/7 (GnomAD)
C=0.000177/3 (TOMMO)
C=0.000342/1 (KOREAN)
HGVS:: NC_000015.10:g.45612053A>C, NC_000015.9:g.45904251A>C, NG_028194.2:g.29835A>C

Select item 149061772014.

rs1490617720 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 15:45601568 (GRCh38)
15:45893766 (GRCh37)
Canonical SPDI:: NC_000015.10:45601567:A:T
Gene:: BLOC1S6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.45601568A>T, NC_000015.9:g.45893766A>T, NG_028194.2:g.19350A>T

Select item 149043390015.

rs1490433900 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 15:45610979 (GRCh38)
15:45903177 (GRCh37)
Canonical SPDI:: NC_000015.10:45610978:A:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.45610979A>T, NC_000015.9:g.45903177A>T, NG_028194.2:g.28761A>T

Select item 149032236616.

rs1490322366 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:45585656 (GRCh38)
15:45877854 (GRCh37)
Canonical SPDI:: NC_000015.10:45585655:A:C
Gene:: BLOC1S6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.00118/14 (ALFA)
C=0.00241/68 (TOMMO)
HGVS:: NC_000015.10:g.45585656A>C, NC_000015.9:g.45877854A>C, NG_028194.2:g.3438A>C

Select item 149027121217.

rs1490271212 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:45586639 (GRCh38)
15:45878837 (GRCh37)
Canonical SPDI:: NC_000015.10:45586638:T:C
Gene:: BLOC1S6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.45586639T>C, NC_000015.9:g.45878837T>C, NG_028194.2:g.4421T>C

Select item 149005390218.

rs1490053902 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 15:45610648 (GRCh38)
15:45902846 (GRCh37)
Canonical SPDI:: NC_000015.10:45610647:T:A,NC_000015.10:45610647:T:C
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.45610648T>A, NC_000015.10:g.45610648T>C, NC_000015.9:g.45902846T>A, NC_000015.9:g.45902846T>C, NG_028194.2:g.28430T>A, NG_028194.2:g.28430T>C

Select item 148993365619.

rs1489933656 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:45615420 (GRCh38)
15:45907618 (GRCh37)
Canonical SPDI:: NC_000015.10:45615419:T:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.45615420T>G, NC_000015.9:g.45907618T>G, NG_028194.2:g.33202T>G

Select item 148989539620.

rs1489895396 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:45610969 (GRCh38)
15:45903167 (GRCh37)
Canonical SPDI:: NC_000015.10:45610968:T:C
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000015.10:g.45610969T>C, NC_000015.9:g.45903167T>C, NG_028194.2:g.28751T>C

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