SNP Links for Gene (Select 57730) - SNP

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Select item 14915171541.

rs1491517154 has merged into rs1290812182 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT [Show Flanks]
Chromosome:: 2:97514916 (GRCh38)
2:98131379 (GRCh37)
Canonical SPDI:: NC_000002.12:97514903:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:97514903:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:97514903:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:97514903:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:97514903:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:97514903:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:97514903:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:97514903:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
Gene:: ANKRD36B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000002.12:g.97514916_97514922del, NC_000002.12:g.97514919_97514922del, NC_000002.12:g.97514920_97514922del, NC_000002.12:g.97514921_97514922del, NC_000002.12:g.97514922del, NC_000002.12:g.97514922dup, NC_000002.12:g.97514921_97514922dup, NC_000002.12:g.97514920_97514922dup, NC_000002.11:g.98131379_98131385del, NC_000002.11:g.98131382_98131385del, NC_000002.11:g.98131383_98131385del, NC_000002.11:g.98131384_98131385del, NC_000002.11:g.98131385del, NC_000002.11:g.98131385dup, NC_000002.11:g.98131384_98131385dup, NC_000002.11:g.98131383_98131385dup, NW_025791765.1:g.440947_440953del, NW_025791765.1:g.440950_440953del, NW_025791765.1:g.440951_440953del, NW_025791765.1:g.440952_440953del, NW_025791765.1:g.440953del, NW_025791765.1:g.440953dup, NW_025791765.1:g.440952_440953dup, NW_025791765.1:g.440951_440953dup

Select item 14913725602.

rs1491372560 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGTG [Show Flanks]
Chromosome:: 2:97565864 (GRCh38)
2:98182328 (GRCh37)
Canonical SPDI:: NC_000002.12:97565864:G:GGGTG
Gene:: ANKRD36B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GGGTG=0.00008/1 (ALFA)
HGVS:: NC_000002.12:g.97565865_97565866insGGTG, NC_000002.11:g.98182328_98182329insGGTG, NW_025791765.1:g.491896_491897insGGTG

Select item 14913424123.

rs1491342412 has merged into rs565689864 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 2:97532738 (GRCh38)
2:98149201 (GRCh37)
Canonical SPDI:: NC_000002.12:97532724:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:97532724:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:97532724:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:97532724:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:97532724:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:97532724:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:97532724:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: ANKRD36B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.0524/13 (NorthernSweden)
-=0.3073/1539 (1000Genomes)
HGVS:: NC_000002.12:g.97532738_97532741del, NC_000002.12:g.97532739_97532741del, NC_000002.12:g.97532740_97532741del, NC_000002.12:g.97532741del, NC_000002.12:g.97532741dup, NC_000002.12:g.97532740_97532741dup, NC_000002.12:g.97532737_97532741dup, NC_000002.11:g.98149201_98149204del, NC_000002.11:g.98149202_98149204del, NC_000002.11:g.98149203_98149204del, NC_000002.11:g.98149204del, NC_000002.11:g.98149204dup, NC_000002.11:g.98149203_98149204dup, NC_000002.11:g.98149200_98149204dup, NW_025791765.1:g.458769_458772del, NW_025791765.1:g.458770_458772del, NW_025791765.1:g.458771_458772del, NW_025791765.1:g.458772del, NW_025791765.1:g.458772dup, NW_025791765.1:g.458771_458772dup, NW_025791765.1:g.458768_458772dup

Select item 14913312304.

rs1491331230 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TA,TATA,TATATATATATCACTGATATA [Show Flanks]
Chromosome:: 2:97563992 (GRCh38)
2:98180456 (GRCh37)
Canonical SPDI:: NC_000002.12:97563992:A:ATA,NC_000002.12:97563992:A:ATATA,NC_000002.12:97563992:A:ATATATATATATCACTGATATA
Gene:: ANKRD36B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATA=0./0 (ALFA)
AT=0.00004/1 (GnomAD)
HGVS:: NC_000002.12:g.97563993_97563994insTA, NC_000002.12:g.97563993_97563994insTATA, NC_000002.12:g.97563993AT[6]CACTGATATA[1], NC_000002.11:g.98180456_98180457insTA, NC_000002.11:g.98180456_98180457insTATA, NC_000002.11:g.98180456AT[6]CACTGATATA[1], NW_025791765.1:g.490024_490025insTA, NW_025791765.1:g.490024_490025insTATA, NW_025791765.1:g.490024AT[6]CACTGATATA[1]

Select item 14912579385.

rs1491257938 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:97532724 (GRCh38)
2:98149187 (GRCh37)
Canonical SPDI:: NC_000002.12:97532723:CA:
Gene:: ANKRD36B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.02647/314 (ALFA)
HGVS:: NC_000002.12:g.97532724_97532725del, NC_000002.11:g.98149187_98149188del, NW_025791765.1:g.458755_458756del

Select item 14912320346.

rs1491232034 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 2:97562414 (GRCh38)
2:98178878 (GRCh37)
Canonical SPDI:: NC_000002.12:97562414:AAAAA:AAAAAA
Gene:: ANKRD36B (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AAAAAA=0.0016/7 (ALFA)
HGVS:: NC_000002.12:g.97562419dup, NC_000002.11:g.98178882dup, NW_025791765.1:g.488450dup

Select item 14911873627.

rs1491187362 has merged into rs11364159 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:97591798 (GRCh38)
2:98208261 (GRCh37)
Canonical SPDI:: NC_000002.12:97591790:TTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000002.12:97591790:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:97591790:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:97591790:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:97591790:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:97591790:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:97591790:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:97591790:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:97591790:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:97591790:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:97591790:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:97591790:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:97591790:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ANKRD36B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
HGVS:: NC_000002.12:g.97591798_97591808del, NC_000002.12:g.97591802_97591808del, NC_000002.12:g.97591803_97591808del, NC_000002.12:g.97591805_97591808del, NC_000002.12:g.97591806_97591808del, NC_000002.12:g.97591807_97591808del, NC_000002.12:g.97591808del, NC_000002.12:g.97591808dup, NC_000002.12:g.97591807_97591808dup, NC_000002.12:g.97591806_97591808dup, NC_000002.12:g.97591805_97591808dup, NC_000002.12:g.97591804_97591808dup, NC_000002.12:g.97591803_97591808dup, NC_000002.11:g.98208261_98208271del, NC_000002.11:g.98208265_98208271del, NC_000002.11:g.98208266_98208271del, NC_000002.11:g.98208268_98208271del, NC_000002.11:g.98208269_98208271del, NC_000002.11:g.98208270_98208271del, NC_000002.11:g.98208271del, NC_000002.11:g.98208271dup, NC_000002.11:g.98208270_98208271dup, NC_000002.11:g.98208269_98208271dup, NC_000002.11:g.98208268_98208271dup, NC_000002.11:g.98208267_98208271dup, NC_000002.11:g.98208266_98208271dup, NW_025791765.1:g.517829_517839del, NW_025791765.1:g.517833_517839del, NW_025791765.1:g.517834_517839del, NW_025791765.1:g.517836_517839del, NW_025791765.1:g.517837_517839del, NW_025791765.1:g.517838_517839del, NW_025791765.1:g.517839del, NW_025791765.1:g.517839dup, NW_025791765.1:g.517838_517839dup, NW_025791765.1:g.517837_517839dup, NW_025791765.1:g.517836_517839dup, NW_025791765.1:g.517835_517839dup, NW_025791765.1:g.517834_517839dup

Select item 14910957738.

rs1491095773 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,CC [Show Flanks]
Chromosome:: 2:97514904 (GRCh38)
2:98131368 (GRCh37)
Canonical SPDI:: NC_000002.12:97514904::A,NC_000002.12:97514904::CC
Gene:: ANKRD36B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.00002/1 (GnomAD)
HGVS:: NC_000002.12:g.97514904_97514905insA, NC_000002.12:g.97514904_97514905insCC, NC_000002.11:g.98131367_98131368insA, NC_000002.11:g.98131367_98131368insCC, NW_025791765.1:g.440935_440936insA, NW_025791765.1:g.440935_440936insCC

Select item 14910263159.

rs1491026315 has merged into rs61104192 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 2:97496787 (GRCh38)
2:98113251 (GRCh37)
Canonical SPDI:: NC_000002.12:97496785:TTT:T
Gene:: ANKRD36B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.00027/20 (GnomAD)
HGVS:: NC_000002.12:g.97496787_97496788del, NC_000002.11:g.98113251_98113252del, NW_025791765.1:g.422818_422819del

Select item 149097490110.

rs1490974901 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:97565945 (GRCh38)
2:98182408 (GRCh37)
Canonical SPDI:: NC_000002.12:97565944:G:A
Gene:: ANKRD36B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.97565945G>A, NC_000002.11:g.98182408G>A, NW_025791765.1:g.491976G>A

Select item 149093110511.

rs1490931105 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:97590207 (GRCh38)
2:98206670 (GRCh37)
Canonical SPDI:: NC_000002.12:97590206:G:A
Gene:: ANKRD36B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.97590207G>A, NC_000002.11:g.98206670G>A, NW_025791765.1:g.516238G>A

Select item 149092449812.

rs1490924498 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:97566743 (GRCh38)
2:98183206 (GRCh37)
Canonical SPDI:: NC_000002.12:97566742:C:T
Gene:: ANKRD36B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.97566743C>T, NC_000002.11:g.98183206C>T, NW_025791765.1:g.492774C>T

Select item 149091099313.

rs1490910993 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:97563216 (GRCh38)
2:98179679 (GRCh37)
Canonical SPDI:: NC_000002.12:97563215:T:G
Gene:: ANKRD36B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.97563216T>G, NC_000002.11:g.98179679T>G, NW_025791765.1:g.489247T>G

Select item 149087554414.

rs1490875544 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:97564871 (GRCh38)
2:98181334 (GRCh37)
Canonical SPDI:: NC_000002.12:97564870:C:T
Gene:: ANKRD36B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.97564871C>T, NC_000002.11:g.98181334C>T, NW_025791765.1:g.490902C>T

Select item 149077201515.

rs1490772015 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:97504554 (GRCh38)
2:98121017 (GRCh37)
Canonical SPDI:: NC_000002.12:97504553:T:C
Gene:: ANKRD36B (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.97504554T>C, NC_000002.11:g.98121017T>C, NW_025791765.1:g.430585T>C

Select item 149075428116.

rs1490754281 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:97532823 (GRCh38)
2:98149286 (GRCh37)
Canonical SPDI:: NC_000002.12:97532822:G:A
Gene:: ANKRD36B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.97532823G>A, NC_000002.11:g.98149286G>A, NW_025791765.1:g.458854G>A

Select item 149072821417.

rs1490728214 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:97534690 (GRCh38)
2:98151153 (GRCh37)
Canonical SPDI:: NC_000002.12:97534689:G:A
Gene:: ANKRD36B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.97534690G>A, NC_000002.11:g.98151153G>A, NW_025791765.1:g.460721G>A

Select item 149069057718.

rs1490690577 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:97551081 (GRCh38)
2:98167544 (GRCh37)
Canonical SPDI:: NC_000002.12:97551080:T:A
Gene:: ANKRD36B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,5_prime_UTR_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_000002.12:g.97551081T>A, NC_000002.11:g.98167544T>A, NW_025791765.1:g.477112T>A, XM_047445338.1:c.-1445A>T

Select item 149068903619.

rs1490689036 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 2:97514466 (GRCh38)
2:98130929 (GRCh37)
Canonical SPDI:: NC_000002.12:97514465:TTTTT:TTTT
Gene:: ANKRD36B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTTT=0.0034/15 (ALFA)
HGVS:: NC_000002.12:g.97514470del, NC_000002.11:g.98130933del, NW_025791765.1:g.440501del

Select item 149059028420.

rs1490590284 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:97512601 (GRCh38)
2:98129064 (GRCh37)
Canonical SPDI:: NC_000002.12:97512600:T:C
Gene:: ANKRD36B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.00076/9 (ALFA)
HGVS:: NC_000002.12:g.97512601T>C, NC_000002.11:g.98129064T>C, NW_025791765.1:g.438632T>C

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