SNP Links for Gene (Select 4683) - SNP

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Select item 14915883651.

rs1491588365 has merged into rs905605538 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 8:89974261 (GRCh38)
8:90986489 (GRCh37)
Canonical SPDI:: NC_000008.11:89974251:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000008.11:89974251:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:89974251:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:89974251:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:89974251:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:89974251:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:89974251:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:89974251:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:89974251:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:89974251:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:89974251:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:89974251:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:89974251:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:89974251:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:89974251:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:89974251:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:89974251:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:89974251:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:89974251:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:89974251:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:89974251:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NBN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000008.11:g.89974261_89974271del, NC_000008.11:g.89974263_89974271del, NC_000008.11:g.89974265_89974271del, NC_000008.11:g.89974266_89974271del, NC_000008.11:g.89974267_89974271del, NC_000008.11:g.89974268_89974271del, NC_000008.11:g.89974269_89974271del, NC_000008.11:g.89974270_89974271del, NC_000008.11:g.89974271del, NC_000008.11:g.89974271dup, NC_000008.11:g.89974252_89974271T[21]GTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.89974270_89974271dup, NC_000008.11:g.89974269_89974271dup, NC_000008.11:g.89974268_89974271dup, NC_000008.11:g.89974267_89974271dup, NC_000008.11:g.89974265_89974271dup, NC_000008.11:g.89974264_89974271dup, NC_000008.11:g.89974263_89974271dup, NC_000008.11:g.89974258_89974271dup, NC_000008.11:g.89974257_89974271dup, NC_000008.11:g.89974256_89974271dup, NC_000008.10:g.90986489_90986499del, NC_000008.10:g.90986491_90986499del, NC_000008.10:g.90986493_90986499del, NC_000008.10:g.90986494_90986499del, NC_000008.10:g.90986495_90986499del, NC_000008.10:g.90986496_90986499del, NC_000008.10:g.90986497_90986499del, NC_000008.10:g.90986498_90986499del, NC_000008.10:g.90986499del, NC_000008.10:g.90986499dup, NC_000008.10:g.90986480_90986499T[21]GTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.90986498_90986499dup, NC_000008.10:g.90986497_90986499dup, NC_000008.10:g.90986496_90986499dup, NC_000008.10:g.90986495_90986499dup, NC_000008.10:g.90986493_90986499dup, NC_000008.10:g.90986492_90986499dup, NC_000008.10:g.90986491_90986499dup, NC_000008.10:g.90986486_90986499dup, NC_000008.10:g.90986485_90986499dup, NC_000008.10:g.90986484_90986499dup, NG_008860.1:g.15410_15420del, NG_008860.1:g.15412_15420del, NG_008860.1:g.15414_15420del, NG_008860.1:g.15415_15420del, NG_008860.1:g.15416_15420del, NG_008860.1:g.15417_15420del, NG_008860.1:g.15418_15420del, NG_008860.1:g.15419_15420del, NG_008860.1:g.15420del, NG_008860.1:g.15420dup, NG_008860.1:g.15401_15420A[21]CAAAAAAAAAAAAAAAAAAAAA[1], NG_008860.1:g.15419_15420dup, NG_008860.1:g.15418_15420dup, NG_008860.1:g.15417_15420dup, NG_008860.1:g.15416_15420dup, NG_008860.1:g.15414_15420dup, NG_008860.1:g.15413_15420dup, NG_008860.1:g.15412_15420dup, NG_008860.1:g.15407_15420dup, NG_008860.1:g.15406_15420dup, NG_008860.1:g.15405_15420dup

Select item 14915847362.

rs1491584736 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 8:89964138 (GRCh38)
8:90976366 (GRCh37)
Canonical SPDI:: NC_000008.11:89964137:AT:
Gene:: NBN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000068/18 (TOPMED)
-=0.000093/13 (GnomAD)
HGVS:: NC_000008.11:g.89964138_89964139del, NC_000008.10:g.90976366_90976367del, NG_008860.1:g.25533_25534del

Select item 14915176443.

rs1491517644 has merged into rs1202244585 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 8:89985651 (GRCh38)
8:90997879 (GRCh37)
Canonical SPDI:: NC_000008.11:89985641:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000008.11:89985641:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:89985641:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:89985641:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:89985641:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:89985641:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:89985641:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:89985641:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:89985641:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: NBN (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.89985651_89985660del, NC_000008.11:g.89985656_89985660del, NC_000008.11:g.89985657_89985660del, NC_000008.11:g.89985658_89985660del, NC_000008.11:g.89985659_89985660del, NC_000008.11:g.89985660del, NC_000008.11:g.89985660dup, NC_000008.11:g.89985659_89985660dup, NC_000008.11:g.89985658_89985660dup, NC_000008.10:g.90997879_90997888del, NC_000008.10:g.90997884_90997888del, NC_000008.10:g.90997885_90997888del, NC_000008.10:g.90997886_90997888del, NC_000008.10:g.90997887_90997888del, NC_000008.10:g.90997888del, NC_000008.10:g.90997888dup, NC_000008.10:g.90997887_90997888dup, NC_000008.10:g.90997886_90997888dup, NG_008860.1:g.4021_4030del, NG_008860.1:g.4026_4030del, NG_008860.1:g.4027_4030del, NG_008860.1:g.4028_4030del, NG_008860.1:g.4029_4030del, NG_008860.1:g.4030del, NG_008860.1:g.4030dup, NG_008860.1:g.4029_4030dup, NG_008860.1:g.4028_4030dup

Select item 14913557534.

rs1491355753 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:89985641 (GRCh38)
8:90997869 (GRCh37)
Canonical SPDI:: NC_000008.11:89985640:CA:
Gene:: NBN (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000008.11:g.89985641_89985642del, NC_000008.10:g.90997869_90997870del, NG_008860.1:g.4030_4031del

Select item 14913536245.

rs1491353624 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 8:89974251 (GRCh38)
8:90986479 (GRCh37)
Canonical SPDI:: NC_000008.11:89974250:CT:
Gene:: NBN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000017/2 (GnomAD)
HGVS:: NC_000008.11:g.89974251_89974252del, NC_000008.10:g.90986479_90986480del, NG_008860.1:g.15420_15421del

Select item 14910567766.

rs1491056776 has merged into rs10631091 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 8:89943048 (GRCh38)
8:90955276 (GRCh37)
Canonical SPDI:: NC_000008.11:89943038:TTTTTTTTTTTTTTT:TTTTTTTTT,NC_000008.11:89943038:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:89943038:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:89943038:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:89943038:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:89943038:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:89943038:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:89943038:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:89943038:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:89943038:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: NBN (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Clinical significance:: likely-benign,benign
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.0082/41 (1000Genomes)
T=0.325/13 (GENOME_DK)
HGVS:: NC_000008.11:g.89943048_89943053del, NC_000008.11:g.89943050_89943053del, NC_000008.11:g.89943051_89943053del, NC_000008.11:g.89943052_89943053del, NC_000008.11:g.89943053del, NC_000008.11:g.89943053dup, NC_000008.11:g.89943052_89943053dup, NC_000008.11:g.89943051_89943053dup, NC_000008.11:g.89943050_89943053dup, NC_000008.11:g.89943048_89943053dup, NC_000008.10:g.90955276_90955281del, NC_000008.10:g.90955278_90955281del, NC_000008.10:g.90955279_90955281del, NC_000008.10:g.90955280_90955281del, NC_000008.10:g.90955281del, NC_000008.10:g.90955281dup, NC_000008.10:g.90955280_90955281dup, NC_000008.10:g.90955279_90955281dup, NC_000008.10:g.90955278_90955281dup, NC_000008.10:g.90955276_90955281dup, NG_008860.1:g.46628_46633del, NG_008860.1:g.46630_46633del, NG_008860.1:g.46631_46633del, NG_008860.1:g.46632_46633del, NG_008860.1:g.46633del, NG_008860.1:g.46633dup, NG_008860.1:g.46632_46633dup, NG_008860.1:g.46631_46633dup, NG_008860.1:g.46630_46633dup, NG_008860.1:g.46628_46633dup

Select item 14910399177.

rs1491039917 has merged into rs34788524 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 8:89940637 (GRCh38)
8:90952865 (GRCh37)
Canonical SPDI:: NC_000008.11:89940625:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:89940625:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:89940625:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:89940625:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:89940625:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:89940625:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: NBN (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
A=0.308/1142 (TWINSUK)
A=0.3111/1199 (ALSPAC)
A=0.3269/1637 (1000Genomes)
HGVS:: NC_000008.11:g.89940637_89940638del, NC_000008.11:g.89940638del, NC_000008.11:g.89940638dup, NC_000008.11:g.89940637_89940638dup, NC_000008.11:g.89940636_89940638dup, NC_000008.11:g.89940631_89940638dup, NC_000008.10:g.90952865_90952866del, NC_000008.10:g.90952866del, NC_000008.10:g.90952866dup, NC_000008.10:g.90952865_90952866dup, NC_000008.10:g.90952864_90952866dup, NC_000008.10:g.90952859_90952866dup, NG_008860.1:g.49045_49046del, NG_008860.1:g.49046del, NG_008860.1:g.49046dup, NG_008860.1:g.49045_49046dup, NG_008860.1:g.49044_49046dup, NG_008860.1:g.49039_49046dup

Select item 14909882578.

rs1490988257 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:89937561 (GRCh38)
8:90949789 (GRCh37)
Canonical SPDI:: NC_000008.11:89937560:T:C
Gene:: NBN (Varview)
Functional Consequence:: genic_downstream_transcript_variant,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_000008.11:g.89937561T>C, NC_000008.10:g.90949789T>C, NG_008860.1:g.52111A>G

Select item 14907961819.

rs1490796181 [Homo sapiens]

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

Select item 149076276410.

rs1490762764 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:89977423 (GRCh38)
8:90989651 (GRCh37)
Canonical SPDI:: NC_000008.11:89977422:G:C
Gene:: NBN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.89977423G>C, NC_000008.10:g.90989651G>C, NG_008860.1:g.12249C>G

Select item 149073183311.

rs1490731833 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:89945112 (GRCh38)
8:90957340 (GRCh37)
Canonical SPDI:: NC_000008.11:89945111:C:T
Gene:: NBN (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)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.89945112C>T, NC_000008.10:g.90957340C>T, NG_008860.1:g.44560G>A

Select item 149065542912.

rs1490655429 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:89962094 (GRCh38)
8:90974322 (GRCh37)
Canonical SPDI:: NC_000008.11:89962093:C:T
Gene:: NBN (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_000008.11:g.89962094C>T, NC_000008.10:g.90974322C>T, NG_008860.1:g.27578G>A

Select item 149040564213.

rs1490405642 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:89938973 (GRCh38)
8:90951201 (GRCh37)
Canonical SPDI:: NC_000008.11:89938972:T:C
Gene:: NBN (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.89938973T>C, NC_000008.10:g.90951201T>C, NG_008860.1:g.50699A>G

Select item 149019688514.

rs1490196885 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:89945799 (GRCh38)
8:90958027 (GRCh37)
Canonical SPDI:: NC_000008.11:89945798:A:G
Gene:: NBN (Varview)
Functional Consequence:: genic_downstream_transcript_variant,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_000008.11:g.89945799A>G, NC_000008.10:g.90958027A>G, NG_008860.1:g.43873T>C

Select item 149017408715.

rs1490174087 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:89984364 (GRCh38)
8:90996592 (GRCh37)
Canonical SPDI:: NC_000008.11:89984363:G:A
Gene:: NBN (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.89984364G>A, NC_000008.10:g.90996592G>A, NG_008860.1:g.5308C>T

Select item 149016266216.

rs1490162662 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:89974053 (GRCh38)
8:90986281 (GRCh37)
Canonical SPDI:: NC_000008.11:89974052:T:C
Gene:: NBN (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)
C=0.000156/1 (1000Genomes)
HGVS:: NC_000008.11:g.89974053T>C, NC_000008.10:g.90986281T>C, NG_008860.1:g.15619A>G

Select item 149010395717.

rs1490103957 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 8:89933783 (GRCh38)
8:90946011 (GRCh37)
Canonical SPDI:: NC_000008.11:89933781:ATA:A
Gene:: NBN (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.89933783_89933784del, NC_000008.10:g.90946011_90946012del, NG_008860.1:g.55889_55890del, NM_002485.5:c.*1799_*1800del, NM_002485.4:c.*1799_*1800del, NM_001024688.3:c.*1799_*1800del, NM_001024688.2:c.*1799_*1800del, NM_001024688.1:c.*1799_*1800del, XM_011517045.2:c.*1799_*1800del, XM_011517045.1:c.*1799_*1800del, XM_024447163.2:c.*1799_*1800del, XM_024447163.1:c.*1799_*1800del, XM_047421795.1:c.*1799_*1800del

Select item 149004815618.

rs1490048156 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:89936408 (GRCh38)
8:90948636 (GRCh37)
Canonical SPDI:: NC_000008.11:89936407:G:T
Gene:: NBN (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)
T=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.89936408G>T, NC_000008.10:g.90948636G>T, NG_008860.1:g.53264C>A

Select item 149003660119.

rs1490036601 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 8:89983587 (GRCh38)
8:90995816 (GRCh37)
Canonical SPDI:: NC_000008.11:89983587:TTTTTT:TTTTTTT
Gene:: NBN (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.89983593dup, NC_000008.10:g.90995821dup, NG_008860.1:g.6084dup

Select item 149003079720.

rs1490030797 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 8:89971646 (GRCh38)
8:90983874 (GRCh37)
Canonical SPDI:: NC_000008.11:89971645:A:G,NC_000008.11:89971645:A:T
Gene:: NBN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.89971646A>G, NC_000008.11:g.89971646A>T, NC_000008.10:g.90983874A>G, NC_000008.10:g.90983874A>T, NG_008860.1:g.18026T>C, NG_008860.1:g.18026T>A

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