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Select item 14915443891.

rs1491544389 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGAAA [Show Flanks]
Chromosome:: 8:11504395 (GRCh38)
8:11361905 (GRCh37)
Canonical SPDI:: NC_000008.11:11504395:GAAA:GAAAGGAAA
Gene:: BLK (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GAAAGGAAA=0./0 (ALFA)
HGVS:: NC_000008.11:g.11504399_11504400insGGAAA, NC_000008.10:g.11361908_11361909insGGAAA, NG_023543.2:g.15388_15389insGGAAA, NW_018654717.1:g.1843703_1843704insCTTTC

Select item 14915261322.

rs1491526132 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GACA [Show Flanks]
Chromosome:: 8:11559420 (GRCh38)
8:11416930 (GRCh37)
Canonical SPDI:: NC_000008.11:11559420:ACA:ACAGACA
Gene:: BLK (Varview), LOC105379241 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: ACAGACA=0./0 (ALFA)
ACAG=0.000022/3 (GnomAD)
HGVS:: NC_000008.11:g.11559423_11559424insGACA, NC_000008.10:g.11416932_11416933insGACA, NG_023543.2:g.70412_70413insGACA, NW_018654717.1:g.1788675_1788676insCTGT

Select item 14915017503.

rs1491501750 has merged into rs529916563 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACA>-,CA [Show Flanks]
Chromosome:: 8:11559426 (GRCh38)
8:11416935 (GRCh37)
Canonical SPDI:: NC_000008.11:11559419:CACACACACA:CACACA,NC_000008.11:11559419:CACACACACA:CACACACA
Gene:: BLK (Varview), LOC105379241 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACA=0.00098/16 (ALFA)
-=0.00167/1 (NorthernSweden)
-=0.0018/9 (1000Genomes)
-=0.00491/9 (Korea1K)
HGVS:: NC_000008.11:g.11559420CA[3], NC_000008.11:g.11559420CA[4], NC_000008.10:g.11416929CA[3], NC_000008.10:g.11416929CA[4], NG_023543.2:g.70409CA[3], NG_023543.2:g.70409CA[4], NW_018654717.1:g.1788667TG[3], NW_018654717.1:g.1788667TG[4]

Select item 14913851054.

rs1491385105 has merged into rs145013879 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT [Show Flanks]
Chromosome:: 8:11541510 (GRCh38)
8:11399019 (GRCh37)
Canonical SPDI:: NC_000008.11:11541500:TTTTTTTTTTTTTT:TTTTTTTTT,NC_000008.11:11541500:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000008.11:11541500:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:11541500:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:11541500:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:11541500:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: BLK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0.00018/2 (ALFA)
-=0.4/16 (GENOME_DK)
HGVS:: NC_000008.11:g.11541510_11541514del, NC_000008.11:g.11541511_11541514del, NC_000008.11:g.11541512_11541514del, NC_000008.11:g.11541513_11541514del, NC_000008.11:g.11541514del, NC_000008.11:g.11541514dup, NC_000008.10:g.11399019_11399023del, NC_000008.10:g.11399020_11399023del, NC_000008.10:g.11399021_11399023del, NC_000008.10:g.11399022_11399023del, NC_000008.10:g.11399023del, NC_000008.10:g.11399023dup, NG_023543.2:g.52499_52503del, NG_023543.2:g.52500_52503del, NG_023543.2:g.52501_52503del, NG_023543.2:g.52502_52503del, NG_023543.2:g.52503del, NG_023543.2:g.52503dup, NW_018654717.1:g.1806596G>A, NW_018654717.1:g.1806593_1806597del, NW_018654717.1:g.1806594_1806597del, NW_018654717.1:g.1806595_1806597del, NW_018654717.1:g.1806596GA[5], NW_018654717.1:g.1806596del, NW_018654717.1:g.1806596delinsAA

Select item 14913431305.

rs1491343130 [Homo sapiens]

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

Select item 14913429006.

rs1491342900 has merged into rs1285512787 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAA,AAAAA,AATAAA [Show Flanks]
Chromosome:: 8:11535310 (GRCh38)
8:11392819 (GRCh37)
Canonical SPDI:: NC_000008.11:11535308:AAA:A,NC_000008.11:11535308:AAA:AAAA,NC_000008.11:11535308:AAA:AAAAAA,NC_000008.11:11535308:AAA:AAATAAA
Gene:: BLK (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
AAA=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.11535310_11535311del, NC_000008.11:g.11535311dup, NC_000008.11:g.11535309_11535311dup, NC_000008.11:g.11535311_11535312insTAAA, NC_000008.10:g.11392819_11392820del, NC_000008.10:g.11392820dup, NC_000008.10:g.11392818_11392820dup, NC_000008.10:g.11392820_11392821insTAAA, NG_023543.2:g.46299_46300del, NG_023543.2:g.46300dup, NG_023543.2:g.46298_46300dup, NG_023543.2:g.46300_46301insTAAA, NW_018654717.1:g.1812794_1812795del, NW_018654717.1:g.1812795dup, NW_018654717.1:g.1812793_1812795dup, NW_018654717.1:g.1812795_1812796insATTT

Select item 14913390917.

rs1491339091 [Homo sapiens]

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

Select item 14913087498.

rs1491308749 has merged into rs34735987 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT [Show Flanks]
Chromosome:: 8:11501367 (GRCh38)
8:11358876 (GRCh37)
Canonical SPDI:: NC_000008.11:11501355:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:11501355:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:11501355:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:11501355:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:11501355:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:11501355:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:11501355:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: BLK (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
T=0.2/8 (GENOME_DK)
T=0.206/794 (ALSPAC)
T=0.2106/781 (TWINSUK)
T=0.2923/1464 (1000Genomes)
T=0.3121/186 (NorthernSweden)
HGVS:: NC_000008.11:g.11501367_11501369del, NC_000008.11:g.11501368_11501369del, NC_000008.11:g.11501369del, NC_000008.11:g.11501369dup, NC_000008.11:g.11501368_11501369dup, NC_000008.11:g.11501367_11501369dup, NC_000008.11:g.11501366_11501369dup, NC_000008.10:g.11358876_11358878del, NC_000008.10:g.11358877_11358878del, NC_000008.10:g.11358878del, NC_000008.10:g.11358878dup, NC_000008.10:g.11358877_11358878dup, NC_000008.10:g.11358876_11358878dup, NC_000008.10:g.11358875_11358878dup, NG_023543.2:g.12356_12358del, NG_023543.2:g.12357_12358del, NG_023543.2:g.12358del, NG_023543.2:g.12358dup, NG_023543.2:g.12357_12358dup, NG_023543.2:g.12356_12358dup, NG_023543.2:g.12355_12358dup, NW_018654717.1:g.1846723dup, NW_018654717.1:g.1846722_1846723del, NW_018654717.1:g.1846723del, NW_018654717.1:g.1846722_1846723dup, NW_018654717.1:g.1846721_1846723dup, NW_018654717.1:g.1846720_1846723dup, NW_018654717.1:g.1846719_1846723dup

Select item 14912701789.

rs1491270178 has merged into rs34059887 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
Chromosome:: 8:11543978 (GRCh38)
8:11401487 (GRCh37)
Canonical SPDI:: NC_000008.11:11543965:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:11543965:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:11543965:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:11543965:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:11543965:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
Gene:: BLK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
T=0.4792/2400 (1000Genomes)
HGVS:: NC_000008.11:g.11543978_11543980del, NC_000008.11:g.11543979_11543980del, NC_000008.11:g.11543980del, NC_000008.11:g.11543980dup, NC_000008.11:g.11543979_11543980dup, NC_000008.10:g.11401487_11401489del, NC_000008.10:g.11401488_11401489del, NC_000008.10:g.11401489del, NC_000008.10:g.11401489dup, NC_000008.10:g.11401488_11401489dup, NG_023543.2:g.54967_54969del, NG_023543.2:g.54968_54969del, NG_023543.2:g.54969del, NG_023543.2:g.54969dup, NG_023543.2:g.54968_54969dup, NW_018654717.1:g.1804130_1804132del, NW_018654717.1:g.1804131_1804132del, NW_018654717.1:g.1804132del, NW_018654717.1:g.1804132dup, NW_018654717.1:g.1804131_1804132dup

Select item 149121565610.

rs1491215656 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CATG [Show Flanks]
Chromosome:: 8:11560186 (GRCh38)
8:11417696 (GRCh37)
Canonical SPDI:: NC_000008.11:11560186:ATG:ATGCATG
Gene:: BLK (Varview), LOC105379241 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: ATGCATG=0./0 (ALFA)
HGVS:: NC_000008.11:g.11560189_11560190insCATG, NC_000008.10:g.11417698_11417699insCATG, NG_023543.2:g.71178_71179insCATG, NW_018654717.1:g.1787931_1787932insGCAT

Select item 149120902711.

rs1491209027 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 8:11535261 (GRCh38)
8:11392770 (GRCh37)
Canonical SPDI:: NC_000008.11:11535259:AGA:A
Gene:: BLK (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000008.11:g.11535261_11535262del, NC_000008.10:g.11392770_11392771del, NG_023543.2:g.46250_46251del, NW_018654717.1:g.1812843_1812844del

Select item 149114295612.

rs1491142956 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAAGAAAGAAAG [Show Flanks]
Chromosome:: 8:11535260 (GRCh38)
8:11392770 (GRCh37)
Canonical SPDI:: NC_000008.11:11535260:GAAGAAAGAAAG:GAAGAAAGAAAGGAAGAAAGAAAG
Gene:: BLK (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: GAAGAAAGAAAG=0.000018/2 (GnomAD)
HGVS:: NC_000008.11:g.11535261_11535272dup, NC_000008.10:g.11392770_11392781dup, NG_023543.2:g.46250_46261dup, NW_018654717.1:g.1812832_1812843dup

Select item 149112222813.

rs1491122228 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 8:11504396 (GRCh38)
8:11361905 (GRCh37)
Canonical SPDI:: NC_000008.11:11504394:AGA:A
Gene:: BLK (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.11504396_11504397del, NC_000008.10:g.11361905_11361906del, NG_023543.2:g.15385_15386del, NW_018654717.1:g.1843703_1843704del

Select item 149111334014.

rs1491113340 has merged into rs36087382 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 8:11559408 (GRCh38)
8:11416917 (GRCh37)
Canonical SPDI:: NC_000008.11:11559406:AGA:A
Gene:: BLK (Varview), LOC105379241 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000184/3 (ALFA)
-=0.000165/20 (GnomAD)
HGVS:: NC_000008.11:g.11559408_11559409del, NC_000008.10:g.11416917_11416918del, NG_023543.2:g.70397_70398del

Select item 149108774015.

rs1491087740 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAGAAA>-,AAGAAAAAGAAA [Show Flanks]
Chromosome:: 8:11535318 (GRCh38)
8:11392827 (GRCh37)
Canonical SPDI:: NC_000008.11:11535316:AAAGAAA:A,NC_000008.11:11535316:AAAGAAA:AAAGAAAAAGAAA
Gene:: BLK (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AAAGAAAAAGAAA=0./0 (ALFA)
AAAGAA=0.000096/11 (GnomAD)
HGVS:: NC_000008.11:g.11535318_11535323del, NC_000008.11:g.11535318_11535323dup, NC_000008.10:g.11392827_11392832del, NC_000008.10:g.11392827_11392832dup, NG_023543.2:g.46307_46312del, NG_023543.2:g.46307_46312dup, NW_018654717.1:g.1812782_1812787del, NW_018654717.1:g.1812782_1812787dup

Select item 149107625016.

rs1491076250 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 8:11535292 (GRCh38)
8:11392801 (GRCh37)
Canonical SPDI:: NC_000008.11:11535290:AGA:A
Gene:: BLK (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000008.11:g.11535292_11535293del, NC_000008.10:g.11392801_11392802del, NG_023543.2:g.46281_46282del, NW_018654717.1:g.1812812_1812813del

Select item 149106018217.

rs1491060182 has merged into rs757505095 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>-,GAGA [Show Flanks]
Chromosome:: 8:11535316 (GRCh38)
8:11392825 (GRCh37)
Canonical SPDI:: NC_000008.11:11535314:AGA:A,NC_000008.11:11535314:AGA:AGAGA
Gene:: BLK (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGA=0./0 (ALFA)
AG=0.000016/2 (GnomAD)
HGVS:: NC_000008.11:g.11535316_11535317del, NC_000008.11:g.11535316_11535317dup, NC_000008.10:g.11392825_11392826del, NC_000008.10:g.11392825_11392826dup, NG_023543.2:g.46305_46306del, NG_023543.2:g.46305_46306dup, NW_018654717.1:g.1812788_1812789del, NW_018654717.1:g.1812788_1812789dup

Select item 149105658018.

rs1491056580 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 8:11530677 (GRCh38)
8:11388187 (GRCh37)
Canonical SPDI:: NC_000008.11:11530677::T
Gene:: BLK (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00063/10 (GnomAD)
HGVS:: NC_000008.11:g.11530677_11530678insT, NC_000008.10:g.11388186_11388187insT, NG_023543.2:g.41666_41667insT

Select item 149098862919.

rs1490988629 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 8:11497999 (GRCh38)
8:11355508 (GRCh37)
Canonical SPDI:: NC_000008.11:11497998:T:A,NC_000008.11:11497998:T:C
Gene:: BLK (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000008.11:g.11497999T>A, NC_000008.11:g.11497999T>C, NC_000008.10:g.11355508T>A, NC_000008.10:g.11355508T>C, NG_023543.2:g.8988T>A, NG_023543.2:g.8988T>C, NW_018654717.1:g.1850080A>T, NW_018654717.1:g.1850080A>G

Select item 149091419120.

rs1490914191 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:11511178 (GRCh38)
8:11368687 (GRCh37)
Canonical SPDI:: NC_000008.11:11511177:G:A
Gene:: BLK (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_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.11511178G>A, NC_000008.10:g.11368687G>A, NG_023543.2:g.22167G>A, NW_018654717.1:g.1836925C>T

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