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Select item 14915342791.

rs1491534279 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 13:32323150 (GRCh38)
13:32897287 (GRCh37)
Canonical SPDI:: NC_000013.11:32323149:AA:
Gene:: BRCA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000013.11:g.32323150_32323151del, NC_000013.10:g.32897287_32897288del, NG_012772.3:g.12671_12672del

Select item 14914915742.

rs1491491574 has merged into rs34184533 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 13:32388133 (GRCh38)
13:32962270 (GRCh37)
Canonical SPDI:: NC_000013.11:32388121:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000013.11:32388121:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000013.11:32388121:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000013.11:32388121:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:32388121:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:32388121:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:32388121:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000013.11:32388121:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000013.11:32388121:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000013.11:32388121:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
Gene:: BRCA2 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0./0 (ALSPAC)
-=0./0 (TWINSUK)
-=0.3359/1682 (1000Genomes)
HGVS:: NC_000013.11:g.32388133_32388136del, NC_000013.11:g.32388134_32388136del, NC_000013.11:g.32388135_32388136del, NC_000013.11:g.32388136del, NC_000013.11:g.32388136dup, NC_000013.11:g.32388135_32388136dup, NC_000013.11:g.32388134_32388136dup, NC_000013.11:g.32388133_32388136dup, NC_000013.11:g.32388132_32388136dup, NC_000013.11:g.32388130_32388136dup, NC_000013.10:g.32962270_32962273del, NC_000013.10:g.32962271_32962273del, NC_000013.10:g.32962272_32962273del, NC_000013.10:g.32962273del, NC_000013.10:g.32962273dup, NC_000013.10:g.32962272_32962273dup, NC_000013.10:g.32962271_32962273dup, NC_000013.10:g.32962270_32962273dup, NC_000013.10:g.32962269_32962273dup, NC_000013.10:g.32962267_32962273dup, NG_012772.3:g.77654_77657del, NG_012772.3:g.77655_77657del, NG_012772.3:g.77656_77657del, NG_012772.3:g.77657del, NG_012772.3:g.77657dup, NG_012772.3:g.77656_77657dup, NG_012772.3:g.77655_77657dup, NG_012772.3:g.77654_77657dup, NG_012772.3:g.77653_77657dup, NG_012772.3:g.77651_77657dup

Select item 14914540303.

rs1491454030 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 13:32344166 (GRCh38)
13:32918303 (GRCh37)
Canonical SPDI:: NC_000013.11:32344165:GA:
Gene:: BRCA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000013.11:g.32344166_32344167del, NC_000013.10:g.32918303_32918304del, NG_012772.3:g.33687_33688del

Select item 14914372724.

rs1491437272 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 13:32349216 (GRCh38)
13:32923353 (GRCh37)
Canonical SPDI:: NC_000013.11:32349215:CA:
Gene:: BRCA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000013.11:g.32349216_32349217del, NC_000013.10:g.32923353_32923354del, NG_012772.3:g.38737_38738del

Select item 14914115545.

rs1491411554 has merged into rs796964470 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 13:32377603 (GRCh38)
13:32951740 (GRCh37)
Canonical SPDI:: NC_000013.11:32377590:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:32377590:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:32377590:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:32377590:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:32377590:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:32377590:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:32377590:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000013.11:32377590:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:32377590:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:32377590:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:32377590:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: BRCA2 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
A=0./0 (TWINSUK)
A=0.0003/1 (ALSPAC)
A=0.1965/984 (1000Genomes)
A=0.2368/9 (GENOME_DK)
HGVS:: NC_000013.11:g.32377603_32377607del, NC_000013.11:g.32377604_32377607del, NC_000013.11:g.32377605_32377607del, NC_000013.11:g.32377606_32377607del, NC_000013.11:g.32377607del, NC_000013.11:g.32377607dup, NC_000013.11:g.32377606_32377607dup, NC_000013.11:g.32377601_32377607dup, NC_000013.11:g.32377598_32377607dup, NC_000013.11:g.32377597_32377607dup, NC_000013.11:g.32377596_32377607dup, NC_000013.10:g.32951740_32951744del, NC_000013.10:g.32951741_32951744del, NC_000013.10:g.32951742_32951744del, NC_000013.10:g.32951743_32951744del, NC_000013.10:g.32951744del, NC_000013.10:g.32951744dup, NC_000013.10:g.32951743_32951744dup, NC_000013.10:g.32951738_32951744dup, NC_000013.10:g.32951735_32951744dup, NC_000013.10:g.32951734_32951744dup, NC_000013.10:g.32951733_32951744dup, NG_012772.3:g.67124_67128del, NG_012772.3:g.67125_67128del, NG_012772.3:g.67126_67128del, NG_012772.3:g.67127_67128del, NG_012772.3:g.67128del, NG_012772.3:g.67128dup, NG_012772.3:g.67127_67128dup, NG_012772.3:g.67122_67128dup, NG_012772.3:g.67119_67128dup, NG_012772.3:g.67118_67128dup, NG_012772.3:g.67117_67128dup

Select item 14913246606.

rs1491324660 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 13:32392589 (GRCh38)
13:32966726 (GRCh37)
Canonical SPDI:: NC_000013.11:32392588:CA:
Gene:: BRCA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000013.11:g.32392589_32392590del, NC_000013.10:g.32966726_32966727del, NG_012772.3:g.82110_82111del

Select item 14912592927.

rs1491259292 has merged into rs139939339 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA,AAA [Show Flanks]
Chromosome:: 13:32343710 (GRCh38)
13:32917847 (GRCh37)
Canonical SPDI:: NC_000013.11:32343709:AAAAAAAAAA:AAAAAAAAA,NC_000013.11:32343709:AAAAAAAAAA:AAAAAAAAAAA,NC_000013.11:32343709:AAAAAAAAAA:AAAAAAAAAAAA
Gene:: BRCA2 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0.007608/105 (ALFA)
-=0.190399/706 (TWINSUK)
-=0.192383/889 (1000Genomes)
-=0.198606/52569 (TOPMED)
-=0.2/8 (GENOME_DK)
-=0.202128/779 (ALSPAC)
-=0.251404/1074 (Estonian)
HGVS:: NC_000013.11:g.32343719del, NC_000013.11:g.32343719dup, NC_000013.11:g.32343718_32343719dup, NC_000013.10:g.32917856del, NC_000013.10:g.32917856dup, NC_000013.10:g.32917855_32917856dup, NG_012772.3:g.33240del, NG_012772.3:g.33240dup, NG_012772.3:g.33239_33240dup

Select item 14912205948.

rs1491220594 has merged into rs10577567 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA [Show Flanks]
Chromosome:: 13:32392602 (GRCh38)
13:32966739 (GRCh37)
Canonical SPDI:: NC_000013.11:32392589:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:32392589:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:32392589:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:32392589:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:32392589:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:32392589:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000013.11:32392589:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: BRCA2 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.3438/1722 (1000Genomes)
HGVS:: NC_000013.11:g.32392602_32392607del, NC_000013.11:g.32392603_32392607del, NC_000013.11:g.32392604_32392607del, NC_000013.11:g.32392605_32392607del, NC_000013.11:g.32392606_32392607del, NC_000013.11:g.32392607del, NC_000013.11:g.32392607dup, NC_000013.10:g.32966739_32966744del, NC_000013.10:g.32966740_32966744del, NC_000013.10:g.32966741_32966744del, NC_000013.10:g.32966742_32966744del, NC_000013.10:g.32966743_32966744del, NC_000013.10:g.32966744del, NC_000013.10:g.32966744dup, NG_012772.3:g.82123_82128del, NG_012772.3:g.82124_82128del, NG_012772.3:g.82125_82128del, NG_012772.3:g.82126_82128del, NG_012772.3:g.82127_82128del, NG_012772.3:g.82128del, NG_012772.3:g.82128dup

Select item 14912025869.

rs1491202586 [Homo sapiens]

Variant type:: INS
Alleles:: ->CA [Show Flanks]
Chromosome:: 13:32334842 (GRCh38)
13:32908980 (GRCh37)
Canonical SPDI:: NC_000013.11:32334842::CA
Gene:: BRCA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CA=0./0 (ALFA)
CA=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.32334842_32334843insCA, NC_000013.10:g.32908979_32908980insCA, NG_012772.3:g.24363_24364insCA

Select item 149118013310.

rs1491180133 has merged into rs397838402 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 13:32395971 (GRCh38)
13:32970108 (GRCh37)
Canonical SPDI:: NC_000013.11:32395960:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000013.11:32395960:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000013.11:32395960:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000013.11:32395960:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000013.11:32395960:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:32395960:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:32395960:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:32395960:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:32395960:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000013.11:32395960:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000013.11:32395960:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000013.11:32395960:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000013.11:32395960:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:32395960:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:32395960:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:32395960:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:32395960:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:32395960:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:32395960:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:32395960:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:32395960:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:32395960:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:32395960:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:32395960:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:32395960:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:32395960:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:32395960:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:32395960:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:32395960:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:32395960:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:32395960:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:32395960:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:32395960:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:32395960:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:32395960:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:32395960:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:32395960:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:32395960:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:32395960:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:32395960:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:32395960:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:32395960:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:32395960:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:32395960:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:32395960:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:32395960:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:32395960:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:32395960:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: BRCA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0./0 (ExAC)
-=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.32395971_32395988del, NC_000013.11:g.32395972_32395988del, NC_000013.11:g.32395973_32395988del, NC_000013.11:g.32395974_32395988del, NC_000013.11:g.32395975_32395988del, NC_000013.11:g.32395976_32395988del, NC_000013.11:g.32395977_32395988del, NC_000013.11:g.32395978_32395988del, NC_000013.11:g.32395979_32395988del, NC_000013.11:g.32395980_32395988del, NC_000013.11:g.32395981_32395988del, NC_000013.11:g.32395982_32395988del, NC_000013.11:g.32395983_32395988del, NC_000013.11:g.32395984_32395988del, NC_000013.11:g.32395985_32395988del, NC_000013.11:g.32395986_32395988del, NC_000013.11:g.32395987_32395988del, NC_000013.11:g.32395988del, NC_000013.11:g.32395988dup, NC_000013.11:g.32395961_32395988T[29]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.11:g.32395987_32395988dup, NC_000013.11:g.32395986_32395988dup, NC_000013.11:g.32395985_32395988dup, NC_000013.11:g.32395984_32395988dup, NC_000013.11:g.32395983_32395988dup, NC_000013.11:g.32395982_32395988dup, NC_000013.11:g.32395981_32395988dup, NC_000013.11:g.32395980_32395988dup, NC_000013.11:g.32395979_32395988dup, NC_000013.11:g.32395977_32395988dup, NC_000013.11:g.32395976_32395988dup, NC_000013.11:g.32395975_32395988dup, NC_000013.11:g.32395974_32395988dup, NC_000013.11:g.32395973_32395988dup, NC_000013.11:g.32395972_32395988dup, NC_000013.11:g.32395971_32395988dup, NC_000013.11:g.32395970_32395988dup, NC_000013.11:g.32395969_32395988dup, NC_000013.11:g.32395967_32395988dup, NC_000013.11:g.32395966_32395988dup, NC_000013.11:g.32395965_32395988dup, NC_000013.11:g.32395964_32395988dup, NC_000013.11:g.32395963_32395988dup, NC_000013.11:g.32395961_32395988dup, NC_000013.11:g.32395988_32395989insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.32395988_32395989insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.32395988_32395989insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.32395988_32395989insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.32970108_32970125del, NC_000013.10:g.32970109_32970125del, NC_000013.10:g.32970110_32970125del, NC_000013.10:g.32970111_32970125del, NC_000013.10:g.32970112_32970125del, NC_000013.10:g.32970113_32970125del, NC_000013.10:g.32970114_32970125del, NC_000013.10:g.32970115_32970125del, NC_000013.10:g.32970116_32970125del, NC_000013.10:g.32970117_32970125del, NC_000013.10:g.32970118_32970125del, NC_000013.10:g.32970119_32970125del, NC_000013.10:g.32970120_32970125del, NC_000013.10:g.32970121_32970125del, NC_000013.10:g.32970122_32970125del, NC_000013.10:g.32970123_32970125del, NC_000013.10:g.32970124_32970125del, NC_000013.10:g.32970125del, NC_000013.10:g.32970125dup, NC_000013.10:g.32970098_32970125T[29]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.10:g.32970124_32970125dup, NC_000013.10:g.32970123_32970125dup, NC_000013.10:g.32970122_32970125dup, NC_000013.10:g.32970121_32970125dup, NC_000013.10:g.32970120_32970125dup, NC_000013.10:g.32970119_32970125dup, NC_000013.10:g.32970118_32970125dup, NC_000013.10:g.32970117_32970125dup, NC_000013.10:g.32970116_32970125dup, NC_000013.10:g.32970114_32970125dup, NC_000013.10:g.32970113_32970125dup, NC_000013.10:g.32970112_32970125dup, NC_000013.10:g.32970111_32970125dup, NC_000013.10:g.32970110_32970125dup, NC_000013.10:g.32970109_32970125dup, NC_000013.10:g.32970108_32970125dup, NC_000013.10:g.32970107_32970125dup, NC_000013.10:g.32970106_32970125dup, NC_000013.10:g.32970104_32970125dup, NC_000013.10:g.32970103_32970125dup, NC_000013.10:g.32970102_32970125dup, NC_000013.10:g.32970101_32970125dup, NC_000013.10:g.32970100_32970125dup, NC_000013.10:g.32970098_32970125dup, NC_000013.10:g.32970125_32970126insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.32970125_32970126insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.32970125_32970126insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.32970125_32970126insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_012772.3:g.85492_85509del, NG_012772.3:g.85493_85509del, NG_012772.3:g.85494_85509del, NG_012772.3:g.85495_85509del, NG_012772.3:g.85496_85509del, NG_012772.3:g.85497_85509del, NG_012772.3:g.85498_85509del, NG_012772.3:g.85499_85509del, NG_012772.3:g.85500_85509del, NG_012772.3:g.85501_85509del, NG_012772.3:g.85502_85509del, NG_012772.3:g.85503_85509del, NG_012772.3:g.85504_85509del, NG_012772.3:g.85505_85509del, NG_012772.3:g.85506_85509del, NG_012772.3:g.85507_85509del, NG_012772.3:g.85508_85509del, NG_012772.3:g.85509del, NG_012772.3:g.85509dup, NG_012772.3:g.85482_85509T[29]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_012772.3:g.85508_85509dup, NG_012772.3:g.85507_85509dup, NG_012772.3:g.85506_85509dup, NG_012772.3:g.85505_85509dup, NG_012772.3:g.85504_85509dup, NG_012772.3:g.85503_85509dup, NG_012772.3:g.85502_85509dup, NG_012772.3:g.85501_85509dup, NG_012772.3:g.85500_85509dup, NG_012772.3:g.85498_85509dup, NG_012772.3:g.85497_85509dup, NG_012772.3:g.85496_85509dup, NG_012772.3:g.85495_85509dup, NG_012772.3:g.85494_85509dup, NG_012772.3:g.85493_85509dup, NG_012772.3:g.85492_85509dup, NG_012772.3:g.85491_85509dup, NG_012772.3:g.85490_85509dup, NG_012772.3:g.85488_85509dup, NG_012772.3:g.85487_85509dup, NG_012772.3:g.85486_85509dup, NG_012772.3:g.85485_85509dup, NG_012772.3:g.85484_85509dup, NG_012772.3:g.85482_85509dup, NG_012772.3:g.85509_85510insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_012772.3:g.85509_85510insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_012772.3:g.85509_85510insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_012772.3:g.85509_85510insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149116288911.

rs1491162889 has merged into rs11327981 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 13:32349827 (GRCh38)
13:32923964 (GRCh37)
Canonical SPDI:: NC_000013.11:32349814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:32349814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:32349814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:32349814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:32349814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:32349814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000013.11:32349814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000013.11:32349814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000013.11:32349814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000013.11:32349814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: BRCA2 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.2597/1001 (ALSPAC)
A=0.4932/2470 (1000Genomes)
HGVS:: NC_000013.11:g.32349827_32349832del, NC_000013.11:g.32349828_32349832del, NC_000013.11:g.32349829_32349832del, NC_000013.11:g.32349830_32349832del, NC_000013.11:g.32349831_32349832del, NC_000013.11:g.32349832del, NC_000013.11:g.32349832dup, NC_000013.11:g.32349831_32349832dup, NC_000013.11:g.32349830_32349832dup, NC_000013.11:g.32349829_32349832dup, NC_000013.10:g.32923964_32923969del, NC_000013.10:g.32923965_32923969del, NC_000013.10:g.32923966_32923969del, NC_000013.10:g.32923967_32923969del, NC_000013.10:g.32923968_32923969del, NC_000013.10:g.32923969del, NC_000013.10:g.32923969dup, NC_000013.10:g.32923968_32923969dup, NC_000013.10:g.32923967_32923969dup, NC_000013.10:g.32923966_32923969dup, NG_012772.3:g.39348_39353del, NG_012772.3:g.39349_39353del, NG_012772.3:g.39350_39353del, NG_012772.3:g.39351_39353del, NG_012772.3:g.39352_39353del, NG_012772.3:g.39353del, NG_012772.3:g.39353dup, NG_012772.3:g.39352_39353dup, NG_012772.3:g.39351_39353dup, NG_012772.3:g.39350_39353dup

Select item 149114468912.

rs1491144689 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 13:32377590 (GRCh38)
13:32951727 (GRCh37)
Canonical SPDI:: NC_000013.11:32377589:CA:
Gene:: BRCA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000013.11:g.32377590_32377591del, NC_000013.10:g.32951727_32951728del, NG_012772.3:g.67111_67112del

Select item 149113536513.

rs1491135365 [Homo sapiens]

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

Select item 149113013414.

rs1491130134 has merged into rs58295304 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 13:32342282 (GRCh38)
13:32916419 (GRCh37)
Canonical SPDI:: NC_000013.11:32342270:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000013.11:32342270:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:32342270:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:32342270:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:32342270:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:32342270:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:32342270:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000013.11:32342270:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000013.11:32342270:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000013.11:32342270:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000013.11:32342270:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:32342270:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:32342270:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: BRCA2 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
AA=0.3936/1971 (1000Genomes)
HGVS:: NC_000013.11:g.32342282_32342288del, NC_000013.11:g.32342283_32342288del, NC_000013.11:g.32342284_32342288del, NC_000013.11:g.32342285_32342288del, NC_000013.11:g.32342286_32342288del, NC_000013.11:g.32342287_32342288del, NC_000013.11:g.32342288del, NC_000013.11:g.32342288dup, NC_000013.11:g.32342287_32342288dup, NC_000013.11:g.32342286_32342288dup, NC_000013.11:g.32342285_32342288dup, NC_000013.11:g.32342284_32342288dup, NC_000013.11:g.32342283_32342288dup, NC_000013.10:g.32916419_32916425del, NC_000013.10:g.32916420_32916425del, NC_000013.10:g.32916421_32916425del, NC_000013.10:g.32916422_32916425del, NC_000013.10:g.32916423_32916425del, NC_000013.10:g.32916424_32916425del, NC_000013.10:g.32916425del, NC_000013.10:g.32916425dup, NC_000013.10:g.32916424_32916425dup, NC_000013.10:g.32916423_32916425dup, NC_000013.10:g.32916422_32916425dup, NC_000013.10:g.32916421_32916425dup, NC_000013.10:g.32916420_32916425dup, NG_012772.3:g.31803_31809del, NG_012772.3:g.31804_31809del, NG_012772.3:g.31805_31809del, NG_012772.3:g.31806_31809del, NG_012772.3:g.31807_31809del, NG_012772.3:g.31808_31809del, NG_012772.3:g.31809del, NG_012772.3:g.31809dup, NG_012772.3:g.31808_31809dup, NG_012772.3:g.31807_31809dup, NG_012772.3:g.31806_31809dup, NG_012772.3:g.31805_31809dup, NG_012772.3:g.31804_31809dup

Select item 149112720915.

rs1491127209 has merged into rs55777417 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 13:32349228 (GRCh38)
13:32923365 (GRCh37)
Canonical SPDI:: NC_000013.11:32349216:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000013.11:32349216:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:32349216:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:32349216:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:32349216:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:32349216:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000013.11:32349216:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:32349216:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000013.11:32349216:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000013.11:32349216:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000013.11:32349216:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:32349216:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:32349216:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:32349216:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:32349216:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:32349216:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:32349216:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:32349216:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:32349216:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: BRCA2 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
AAAAAAAAAAA=0./0 (GENOME_DK)
AAAAAAAAAAA=0.2137/1070 (1000Genomes)
HGVS:: NC_000013.11:g.32349228_32349239del, NC_000013.11:g.32349229_32349239del, NC_000013.11:g.32349230_32349239del, NC_000013.11:g.32349231_32349239del, NC_000013.11:g.32349232_32349239del, NC_000013.11:g.32349234_32349239del, NC_000013.11:g.32349235_32349239del, NC_000013.11:g.32349236_32349239del, NC_000013.11:g.32349237_32349239del, NC_000013.11:g.32349238_32349239del, NC_000013.11:g.32349239del, NC_000013.11:g.32349239dup, NC_000013.11:g.32349238_32349239dup, NC_000013.11:g.32349237_32349239dup, NC_000013.11:g.32349236_32349239dup, NC_000013.11:g.32349235_32349239dup, NC_000013.11:g.32349234_32349239dup, NC_000013.11:g.32349233_32349239dup, NC_000013.11:g.32349232_32349239dup, NC_000013.10:g.32923365_32923376del, NC_000013.10:g.32923366_32923376del, NC_000013.10:g.32923367_32923376del, NC_000013.10:g.32923368_32923376del, NC_000013.10:g.32923369_32923376del, NC_000013.10:g.32923371_32923376del, NC_000013.10:g.32923372_32923376del, NC_000013.10:g.32923373_32923376del, NC_000013.10:g.32923374_32923376del, NC_000013.10:g.32923375_32923376del, NC_000013.10:g.32923376del, NC_000013.10:g.32923376dup, NC_000013.10:g.32923375_32923376dup, NC_000013.10:g.32923374_32923376dup, NC_000013.10:g.32923373_32923376dup, NC_000013.10:g.32923372_32923376dup, NC_000013.10:g.32923371_32923376dup, NC_000013.10:g.32923370_32923376dup, NC_000013.10:g.32923369_32923376dup, NG_012772.3:g.38749_38760del, NG_012772.3:g.38750_38760del, NG_012772.3:g.38751_38760del, NG_012772.3:g.38752_38760del, NG_012772.3:g.38753_38760del, NG_012772.3:g.38755_38760del, NG_012772.3:g.38756_38760del, NG_012772.3:g.38757_38760del, NG_012772.3:g.38758_38760del, NG_012772.3:g.38759_38760del, NG_012772.3:g.38760del, NG_012772.3:g.38760dup, NG_012772.3:g.38759_38760dup, NG_012772.3:g.38758_38760dup, NG_012772.3:g.38757_38760dup, NG_012772.3:g.38756_38760dup, NG_012772.3:g.38755_38760dup, NG_012772.3:g.38754_38760dup, NG_012772.3:g.38753_38760dup

Select item 149107895416.

rs1491078954 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 13:32368966 (GRCh38)
13:32943103 (GRCh37)
Canonical SPDI:: NC_000013.11:32368964:CAC:C
Gene:: BRCA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.00015/21 (GnomAD)
HGVS:: NC_000013.11:g.32368966_32368967del, NC_000013.10:g.32943103_32943104del, NG_012772.3:g.58487_58488del

Select item 149105508617.

rs1491055086 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 13:32344182 (GRCh38)
13:32918320 (GRCh37)
Canonical SPDI:: NC_000013.11:32344182::G
Gene:: BRCA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000061/1 (ALFA)
G=0.000096/13 (GnomAD)
HGVS:: NC_000013.11:g.32344182_32344183insG, NC_000013.10:g.32918319_32918320insG, NG_012772.3:g.33703_33704insG

Select item 149103760818.

rs1491037608 has merged into rs34184533 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 13:32388133 (GRCh38)
13:32962270 (GRCh37)
Canonical SPDI:: NC_000013.11:32388121:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000013.11:32388121:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000013.11:32388121:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000013.11:32388121:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:32388121:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:32388121:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:32388121:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000013.11:32388121:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000013.11:32388121:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000013.11:32388121:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
Gene:: BRCA2 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0./0 (ALSPAC)
-=0./0 (TWINSUK)
-=0.3359/1682 (1000Genomes)
HGVS:: NC_000013.11:g.32388133_32388136del, NC_000013.11:g.32388134_32388136del, NC_000013.11:g.32388135_32388136del, NC_000013.11:g.32388136del, NC_000013.11:g.32388136dup, NC_000013.11:g.32388135_32388136dup, NC_000013.11:g.32388134_32388136dup, NC_000013.11:g.32388133_32388136dup, NC_000013.11:g.32388132_32388136dup, NC_000013.11:g.32388130_32388136dup, NC_000013.10:g.32962270_32962273del, NC_000013.10:g.32962271_32962273del, NC_000013.10:g.32962272_32962273del, NC_000013.10:g.32962273del, NC_000013.10:g.32962273dup, NC_000013.10:g.32962272_32962273dup, NC_000013.10:g.32962271_32962273dup, NC_000013.10:g.32962270_32962273dup, NC_000013.10:g.32962269_32962273dup, NC_000013.10:g.32962267_32962273dup, NG_012772.3:g.77654_77657del, NG_012772.3:g.77655_77657del, NG_012772.3:g.77656_77657del, NG_012772.3:g.77657del, NG_012772.3:g.77657dup, NG_012772.3:g.77656_77657dup, NG_012772.3:g.77655_77657dup, NG_012772.3:g.77654_77657dup, NG_012772.3:g.77653_77657dup, NG_012772.3:g.77651_77657dup

Select item 149098962619.

rs1490989626 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:32378232 (GRCh38)
13:32952369 (GRCh37)
Canonical SPDI:: NC_000013.11:32378231:A:G
Gene:: BRCA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.32378232A>G, NC_000013.10:g.32952369A>G, NG_012772.3:g.67753A>G

Select item 149086201320.

rs1490862013 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 13:32347944 (GRCh38)
13:32922081 (GRCh37)
Canonical SPDI:: NC_000013.11:32347943:T:A,NC_000013.11:32347943:T:G
Gene:: BRCA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.32347944T>A, NC_000013.11:g.32347944T>G, NC_000013.10:g.32922081T>A, NC_000013.10:g.32922081T>G, NG_012772.3:g.37465T>A, NG_012772.3:g.37465T>G

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