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Select item 14914736371.

rs1491473637 has merged into rs34625687 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:54879689 (GRCh38)
19:55391145 (GRCh37)
Canonical SPDI:: NC_000019.10:54879676:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:54879676:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:54879676:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:54879676:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:54879676:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:54879676:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:54879676:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:54879676:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: FCAR (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
T=0.1514/758 (1000Genomes)
HGVS:: NC_000019.10:g.54879689_54879693del, NC_000019.10:g.54879690_54879693del, NC_000019.10:g.54879691_54879693del, NC_000019.10:g.54879692_54879693del, NC_000019.10:g.54879693del, NC_000019.10:g.54879693dup, NC_000019.10:g.54879692_54879693dup, NC_000019.10:g.54879686_54879693dup, NW_004166865.1:g.854057_854061del, NW_004166865.1:g.854058_854061del, NW_004166865.1:g.854059_854061del, NW_004166865.1:g.854060_854061del, NW_004166865.1:g.854061del, NW_004166865.1:g.854061dup, NW_004166865.1:g.854060_854061dup, NW_004166865.1:g.854054_854061dup, NW_003571055.2:g.524957dup, NW_003571055.2:g.524954_524957del, NW_003571055.2:g.524955_524957del, NW_003571055.2:g.524956_524957del, NW_003571055.2:g.524957del, NW_003571055.2:g.524956_524957dup, NW_003571055.2:g.524955_524957dup, NW_003571055.2:g.524949_524957dup, NT_187693.1:g.862259_862263del, NT_187693.1:g.862260_862263del, NT_187693.1:g.862261_862263del, NT_187693.1:g.862262_862263del, NT_187693.1:g.862263del, NT_187693.1:g.862263dup, NT_187693.1:g.862262_862263dup, NT_187693.1:g.862256_862263dup, NC_000019.9:g.55391145_55391149del, NC_000019.9:g.55391146_55391149del, NC_000019.9:g.55391147_55391149del, NC_000019.9:g.55391148_55391149del, NC_000019.9:g.55391149del, NC_000019.9:g.55391149dup, NC_000019.9:g.55391148_55391149dup, NC_000019.9:g.55391142_55391149dup, NW_003571060.1:g.784066dup, NW_003571060.1:g.784063_784066del, NW_003571060.1:g.784064_784066del, NW_003571060.1:g.784065_784066del, NW_003571060.1:g.784066del, NW_003571060.1:g.784065_784066dup, NW_003571060.1:g.784064_784066dup, NW_003571060.1:g.784058_784066dup, NT_187675.1:g.249928_249932del, NT_187675.1:g.249929_249932del, NT_187675.1:g.249930_249932del, NT_187675.1:g.249931_249932del, NT_187675.1:g.249932del, NT_187675.1:g.249932dup, NT_187675.1:g.249931_249932dup, NT_187675.1:g.249925_249932dup, NT_187674.1:g.165709_165713del, NT_187674.1:g.165710_165713del, NT_187674.1:g.165711_165713del, NT_187674.1:g.165712_165713del, NT_187674.1:g.165713del, NT_187674.1:g.165713dup, NT_187674.1:g.165712_165713dup, NT_187674.1:g.165706_165713dup, NT_187671.1:g.158636_158640del, NT_187671.1:g.158637_158640del, NT_187671.1:g.158638_158640del, NT_187671.1:g.158639_158640del, NT_187671.1:g.158640del, NT_187671.1:g.158640dup, NT_187671.1:g.158639_158640dup, NT_187671.1:g.158633_158640dup, NT_187676.1:g.155639_155643del, NT_187676.1:g.155640_155643del, NT_187676.1:g.155641_155643del, NT_187676.1:g.155642_155643del, NT_187676.1:g.155643del, NT_187676.1:g.155643dup, NT_187676.1:g.155642_155643dup, NT_187676.1:g.155636_155643dup, NT_187683.1:g.153907_153911del, NT_187683.1:g.153908_153911del, NT_187683.1:g.153909_153911del, NT_187683.1:g.153910_153911del, NT_187683.1:g.153911del, NT_187683.1:g.153911dup, NT_187683.1:g.153910_153911dup, NT_187683.1:g.153904_153911dup, NT_187641.1:g.1517dup, NT_187641.1:g.1514_1517del, NT_187641.1:g.1515_1517del, NT_187641.1:g.1516_1517del, NT_187641.1:g.1517del, NT_187641.1:g.1516_1517dup, NT_187641.1:g.1515_1517dup, NT_187641.1:g.1509_1517dup, NW_016107304.1:g.208762_208766del, NW_016107304.1:g.208763_208766del, NW_016107304.1:g.208764_208766del, NW_016107304.1:g.208765_208766del, NW_016107304.1:g.208766del, NW_016107304.1:g.208766dup, NW_016107304.1:g.208765_208766dup, NW_016107304.1:g.208759_208766dup, NT_187677.1:g.157056_157060del, NT_187677.1:g.157057_157060del, NT_187677.1:g.157058_157060del, NT_187677.1:g.157059_157060del, NT_187677.1:g.157060del, NT_187677.1:g.157060dup, NT_187677.1:g.157059_157060dup, NT_187677.1:g.157053_157060dup, NW_016107312.1:g.32305_32309del, NW_016107312.1:g.32306_32309del, NW_016107312.1:g.32307_32309del, NW_016107312.1:g.32308_32309del, NW_016107312.1:g.32309del, NW_016107312.1:g.32309dup, NW_016107312.1:g.32308_32309dup, NW_016107312.1:g.32302_32309dup, NW_003571055.1:g.524956dup, NW_003571055.1:g.524953_524956del, NW_003571055.1:g.524954_524956del, NW_003571055.1:g.524955_524956del, NW_003571055.1:g.524956del, NW_003571055.1:g.524955_524956dup, NW_003571055.1:g.524954_524956dup, NW_003571055.1:g.524948_524956dup

Select item 14914357322.

rs1491435732 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 19:54878751 (GRCh38)
19:55390207 (GRCh37)
Canonical SPDI:: NC_000019.10:54878750:AT:
Gene:: FCAR (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00004/1 (TOMMO)
HGVS:: NC_000019.10:g.54878751_54878752del, NW_004166865.1:g.853119_853120del, NW_003571055.2:g.524033dup, NW_003571055.2:g.524019del, NT_187693.1:g.861321_861322del, NC_000019.9:g.55390207_55390208del, NW_003571060.1:g.783126_783127del, NT_187675.1:g.248990_248991del, NT_187674.1:g.164771_164772del, NT_187671.1:g.157698_157699del, NT_187676.1:g.154701_154702del, NT_187683.1:g.152969_152970del, NW_016107304.1:g.207824_207825del, NT_187677.1:g.156118_156119del, NW_016107311.1:g.99873_99874del, NW_016107312.1:g.33234_33235del, NW_003571055.1:g.524032dup, NW_003571055.1:g.524018del

Select item 14913055393.

rs1491305539 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 19:54879676 (GRCh38)
19:55391132 (GRCh37)
Canonical SPDI:: NC_000019.10:54879675:AT:
Gene:: FCAR (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00049/8 (ALFA)
-=0.00024/21 (GnomAD)
HGVS:: NC_000019.10:g.54879676_54879677del, NW_004166865.1:g.854044_854045del, NW_003571055.2:g.524957dup, NW_003571055.2:g.524941del, NT_187693.1:g.862246_862247del, NC_000019.9:g.55391132_55391133del, NW_003571060.1:g.784066dup, NW_003571060.1:g.784050del, NT_187675.1:g.249915_249916del, NT_187674.1:g.165696_165697del, NT_187671.1:g.158623_158624del, NT_187676.1:g.155626_155627del, NT_187683.1:g.153894_153895del, NT_187641.1:g.1517dup, NT_187641.1:g.1518del, NW_016107304.1:g.208749_208750del, NT_187677.1:g.157043_157044del, NW_016107312.1:g.32309_32310del, NW_003571055.1:g.524956dup, NW_003571055.1:g.524940del

Select item 14910546914.

rs1491054691 has merged into rs373425266 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 19:54886262 (GRCh38)
19:-1 (GRCh37)
Canonical SPDI:: NC_000019.10:54886261:AAAAA:AAAA,NC_000019.10:54886261:AAAAA:AAAAAA
Gene:: FCAR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0.000422/5 (ALFA)
-=0.00001/1 (GnomAD)
HGVS:: NC_000019.10:g.54886266del, NC_000019.10:g.54886266dup, NW_004166865.1:g.860634del, NW_004166865.1:g.860634dup, NW_003571055.2:g.531495C>A, NW_003571055.2:g.531495del, NW_003571055.2:g.531495delinsAA, NW_003571055.1:g.531494C>A, NW_003571055.1:g.531494del, NW_003571055.1:g.531494delinsAA, NW_003571060.1:g.790631del, NW_003571060.1:g.790631dup, NT_187675.1:g.256505del, NT_187675.1:g.256505dup, NT_187674.1:g.172286del, NT_187674.1:g.172286dup, NT_187671.1:g.165213del, NT_187671.1:g.165213dup, NT_187676.1:g.162216del, NT_187676.1:g.162216dup, NT_187683.1:g.160484del, NT_187683.1:g.160484dup, NW_016107304.1:g.215339del, NW_016107304.1:g.215339dup, NT_187677.1:g.163633del, NT_187677.1:g.163633dup, NW_016107312.1:g.25724del, NW_016107312.1:g.25724dup

Select item 14910106435.

rs1491010643 has merged into rs111504118 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT,TTT,TTTT [Show Flanks]
Chromosome:: 19:54884806 (GRCh38)
19:55396217 (GRCh37)
Canonical SPDI:: NC_000019.10:54884805:TTTTTTT:TTTTTT,NC_000019.10:54884805:TTTTTTT:TTTTTTTT,NC_000019.10:54884805:TTTTTTT:TTTTTTTTT,NC_000019.10:54884805:TTTTTTT:TTTTTTTTTT
Gene:: FCAR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000019.10:g.54884812del, NC_000019.10:g.54884812dup, NC_000019.10:g.54884811_54884812dup, NC_000019.10:g.54884810_54884812dup, NW_004166865.1:g.859180del, NW_004166865.1:g.859180dup, NW_004166865.1:g.859179_859180dup, NW_004166865.1:g.859178_859180dup, NW_003571055.2:g.530044del, NW_003571055.2:g.530044dup, NW_003571055.2:g.530043_530044dup, NW_003571055.2:g.530042_530044dup, NW_003571055.1:g.530043del, NW_003571055.1:g.530043dup, NW_003571055.1:g.530042_530043dup, NW_003571055.1:g.530041_530043dup, NT_187693.1:g.867338del, NT_187693.1:g.867338dup, NT_187693.1:g.867337_867338dup, NT_187693.1:g.867336_867338dup, NC_000019.9:g.55396224del, NC_000019.9:g.55396224dup, NC_000019.9:g.55396223_55396224dup, NC_000019.9:g.55396222_55396224dup, NW_003571060.1:g.789177del, NW_003571060.1:g.789177dup, NW_003571060.1:g.789176_789177dup, NW_003571060.1:g.789175_789177dup, NT_187675.1:g.255051del, NT_187675.1:g.255051dup, NT_187675.1:g.255050_255051dup, NT_187675.1:g.255049_255051dup, NT_187674.1:g.170832del, NT_187674.1:g.170832dup, NT_187674.1:g.170831_170832dup, NT_187674.1:g.170830_170832dup, NT_187671.1:g.163759del, NT_187671.1:g.163759dup, NT_187671.1:g.163758_163759dup, NT_187671.1:g.163757_163759dup, NT_187676.1:g.160762del, NT_187676.1:g.160762dup, NT_187676.1:g.160761_160762dup, NT_187676.1:g.160760_160762dup, NT_187683.1:g.159030del, NT_187683.1:g.159030dup, NT_187683.1:g.159029_159030dup, NT_187683.1:g.159028_159030dup, NW_016107304.1:g.213885del, NW_016107304.1:g.213885dup, NW_016107304.1:g.213884_213885dup, NW_016107304.1:g.213883_213885dup, NT_187677.1:g.162179del, NT_187677.1:g.162179dup, NT_187677.1:g.162178_162179dup, NT_187677.1:g.162177_162179dup, NW_016107312.1:g.27180del, NW_016107312.1:g.27180dup, NW_016107312.1:g.27179_27180dup, NW_016107312.1:g.27178_27180dup

Select item 14906923336.

rs1490692333 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:54883800 (GRCh38)
19:55395211 (GRCh37)
Canonical SPDI:: NC_000019.10:54883799:A:G
Gene:: FCAR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.54883800A>G, NW_004166865.1:g.858168A>G, NW_003571055.2:g.529032A>G, NW_003571055.1:g.529031A>G, NT_187693.1:g.866325A>G, NC_000019.9:g.55395211A>G, NW_003571060.1:g.788165A>G, NT_187675.1:g.254039A>G, NT_187674.1:g.169820A>G, NT_187671.1:g.162747A>G, NT_187676.1:g.159750A>G, NT_187683.1:g.158018A>G, NW_016107304.1:g.212873A>G, NT_187677.1:g.161167A>G, NW_016107312.1:g.28186T>C

Select item 14900893727.

rs1490089372 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:54882777 (GRCh38)
19:55394188 (GRCh37)
Canonical SPDI:: NC_000019.10:54882776:C:G,NC_000019.10:54882776:C:T
Gene:: FCAR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.54882777C>G, NC_000019.10:g.54882777C>T, NW_004166865.1:g.857145C>G, NW_004166865.1:g.857145C>T, NW_003571055.2:g.528009C>G, NW_003571055.2:g.528009C>T, NW_003571055.1:g.528008C>G, NW_003571055.1:g.528008C>T, NT_187693.1:g.865302C>G, NT_187693.1:g.865302C>T, NC_000019.9:g.55394188C>G, NC_000019.9:g.55394188C>T, NW_003571060.1:g.787142C>G, NW_003571060.1:g.787142C>T, NT_187675.1:g.253016C>G, NT_187675.1:g.253016C>T, NT_187674.1:g.168797C>G, NT_187674.1:g.168797C>T, NT_187671.1:g.161724C>G, NT_187671.1:g.161724C>T, NT_187676.1:g.158727C>G, NT_187676.1:g.158727C>T, NT_187683.1:g.156995C>G, NT_187683.1:g.156995C>T, NW_016107304.1:g.211850C>G, NW_016107304.1:g.211850C>T, NT_187677.1:g.160144C>G, NT_187677.1:g.160144C>T, NW_016107312.1:g.29209G>C, NW_016107312.1:g.29209G>A

Select item 14899476888.

rs1489947688 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 19:54889370 (GRCh38)
19:55400737 (GRCh37)
Canonical SPDI:: NC_000019.10:54889369:T:
Gene:: FCAR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
-=0.00025/7 (TOMMO)
HGVS:: NC_000019.10:g.54889370del, NW_004166865.1:g.863738del, NW_003571055.2:g.534599del, NW_003571055.1:g.534598del, NT_187693.1:g.871851del, NC_000019.9:g.55400737del, NW_003571060.1:g.793735del, NT_187675.1:g.259609del, NT_187674.1:g.175390del, NT_187671.1:g.168317del, NT_187676.1:g.165320del, NT_187683.1:g.163588del, NW_016107304.1:g.218443del, NT_187677.1:g.166737del, NW_016107312.1:g.22616del

Select item 14899187829.

rs1489918782 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:54876926 (GRCh38)
19:55388382 (GRCh37)
Canonical SPDI:: NC_000019.10:54876925:C:A
Gene:: FCAR (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.54876926C>A, NW_004166865.1:g.851294C>A, NW_003571055.2:g.522194C>A, NW_003571055.1:g.522193C>A, NT_187693.1:g.859496C>A, NC_000019.9:g.55388382C>A, NW_003571060.1:g.781301C>A, NT_187675.1:g.247165C>A, NT_187674.1:g.162946C>A, NT_187671.1:g.155873C>A, NT_187676.1:g.152876C>A, NT_187683.1:g.151144C>A, NT_187641.1:g.4266G>T, NW_016107304.1:g.205999C>A, NW_016107306.1:g.177524C>A, NT_187677.1:g.154293C>A, NW_016107311.1:g.98048C>A, NW_016107308.1:g.99311C>A, NW_016107312.1:g.35060G>T

Select item 148966139110.

rs1489661391 has merged into rs374427185 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
Chromosome:: 19:54889976 (GRCh38)
19:55401342 (GRCh37)
Canonical SPDI:: NC_000019.10:54889964:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:54889964:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:54889964:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:54889964:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:54889964:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
Gene:: FCAR (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0.00022/4 (ALFA)
HGVS:: NC_000019.10:g.54889976_54889978del, NC_000019.10:g.54889977_54889978del, NC_000019.10:g.54889978del, NC_000019.10:g.54889978dup, NC_000019.10:g.54889977_54889978dup, NW_004166865.1:g.864344_864346del, NW_004166865.1:g.864345_864346del, NW_004166865.1:g.864346del, NW_004166865.1:g.864346dup, NW_004166865.1:g.864345_864346dup, NW_003571055.2:g.535205_535207del, NW_003571055.2:g.535206_535207del, NW_003571055.2:g.535207del, NW_003571055.2:g.535207dup, NW_003571055.2:g.535206_535207dup, NW_003571055.1:g.535204_535206del, NW_003571055.1:g.535205_535206del, NW_003571055.1:g.535206del, NW_003571055.1:g.535206dup, NW_003571055.1:g.535205_535206dup, NT_187693.1:g.872456_872458del, NT_187693.1:g.872457_872458del, NT_187693.1:g.872458del, NT_187693.1:g.872458dup, NT_187693.1:g.872457_872458dup, NC_000019.9:g.55401342_55401344del, NC_000019.9:g.55401343_55401344del, NC_000019.9:g.55401344del, NC_000019.9:g.55401344dup, NC_000019.9:g.55401343_55401344dup, NW_003571060.1:g.794341_794343del, NW_003571060.1:g.794342_794343del, NW_003571060.1:g.794343del, NW_003571060.1:g.794343dup, NW_003571060.1:g.794342_794343dup, NT_187675.1:g.260215_260217del, NT_187675.1:g.260216_260217del, NT_187675.1:g.260217del, NT_187675.1:g.260217dup, NT_187675.1:g.260216_260217dup, NT_187674.1:g.175996_175998del, NT_187674.1:g.175997_175998del, NT_187674.1:g.175998del, NT_187674.1:g.175998dup, NT_187674.1:g.175997_175998dup, NT_187671.1:g.168923_168925del, NT_187671.1:g.168924_168925del, NT_187671.1:g.168925del, NT_187671.1:g.168925dup, NT_187671.1:g.168924_168925dup, NT_187676.1:g.165926_165928del, NT_187676.1:g.165927_165928del, NT_187676.1:g.165928del, NT_187676.1:g.165928dup, NT_187676.1:g.165927_165928dup, NT_187683.1:g.164194_164196del, NT_187683.1:g.164195_164196del, NT_187683.1:g.164196del, NT_187683.1:g.164196dup, NT_187683.1:g.164195_164196dup, NW_016107304.1:g.219049_219051del, NW_016107304.1:g.219050_219051del, NW_016107304.1:g.219051del, NW_016107304.1:g.219051dup, NW_016107304.1:g.219050_219051dup, NT_187677.1:g.167343_167345del, NT_187677.1:g.167344_167345del, NT_187677.1:g.167345del, NT_187677.1:g.167345dup, NT_187677.1:g.167344_167345dup, NW_016107312.1:g.22019_22021del, NW_016107312.1:g.22020_22021del, NW_016107312.1:g.22021del, NW_016107312.1:g.22021dup, NW_016107312.1:g.22020_22021dup, XM_011526625.4:c.*113_*115del, XM_011526625.4:c.*114_*115del, XM_011526625.4:c.*115del, XM_011526625.4:c.*115dup, XM_011526625.4:c.*114_*115dup, XM_011526625.3:c.*113_*115del, XM_011526625.3:c.*114_*115del, XM_011526625.3:c.*115del, XM_011526625.3:c.*115dup, XM_011526625.3:c.*114_*115dup, XM_011526625.2:c.*113_*115del, XM_011526625.2:c.*114_*115del, XM_011526625.2:c.*115del, XM_011526625.2:c.*115dup, XM_011526625.2:c.*114_*115dup, XM_011526625.1:c.*113_*115del, XM_011526625.1:c.*114_*115del, XM_011526625.1:c.*115del, XM_011526625.1:c.*115dup, XM_011526625.1:c.*114_*115dup, NM_002000.4:c.*113_*115del, NM_002000.4:c.*114_*115del, NM_002000.4:c.*115del, NM_002000.4:c.*115dup, NM_002000.4:c.*114_*115dup, NM_002000.3:c.*113_*115del, NM_002000.3:c.*114_*115del, NM_002000.3:c.*115del, NM_002000.3:c.*115dup, NM_002000.3:c.*114_*115dup, NM_002000.2:c.*113_*115del, NM_002000.2:c.*114_*115del, NM_002000.2:c.*115del, NM_002000.2:c.*115dup, NM_002000.2:c.*114_*115dup, NM_133272.4:c.*113_*115del, NM_133272.4:c.*114_*115del, NM_133272.4:c.*115del, NM_133272.4:c.*115dup, NM_133272.4:c.*114_*115dup, NM_133272.3:c.*113_*115del, NM_133272.3:c.*114_*115del, NM_133272.3:c.*115del, NM_133272.3:c.*115dup, NM_133272.3:c.*114_*115dup, NM_133272.2:c.*113_*115del, NM_133272.2:c.*114_*115del, NM_133272.2:c.*115del, NM_133272.2:c.*115dup, NM_133272.2:c.*114_*115dup, NM_133269.4:c.*113_*115del, NM_133269.4:c.*114_*115del, NM_133269.4:c.*115del, NM_133269.4:c.*115dup, NM_133269.4:c.*114_*115dup, NM_133269.3:c.*113_*115del, NM_133269.3:c.*114_*115del, NM_133269.3:c.*115del, NM_133269.3:c.*115dup, NM_133269.3:c.*114_*115dup, NM_133269.2:c.*113_*115del, NM_133269.2:c.*114_*115del, NM_133269.2:c.*115del, NM_133269.2:c.*115dup, NM_133269.2:c.*114_*115dup, NM_133278.4:c.*113_*115del, NM_133278.4:c.*114_*115del, NM_133278.4:c.*115del, NM_133278.4:c.*115dup, NM_133278.4:c.*114_*115dup, NM_133278.3:c.*113_*115del, NM_133278.3:c.*114_*115del, NM_133278.3:c.*115del, NM_133278.3:c.*115dup, NM_133278.3:c.*114_*115dup, NM_133278.2:c.*113_*115del, NM_133278.2:c.*114_*115del, NM_133278.2:c.*115del, NM_133278.2:c.*115dup, NM_133278.2:c.*114_*115dup, NM_133274.4:c.*237_*239del, NM_133274.4:c.*238_*239del, NM_133274.4:c.*239del, NM_133274.4:c.*239dup, NM_133274.4:c.*238_*239dup, NM_133274.3:c.*237_*239del, NM_133274.3:c.*238_*239del, NM_133274.3:c.*239del, NM_133274.3:c.*239dup, NM_133274.3:c.*238_*239dup, NM_133274.2:c.*237_*239del, NM_133274.2:c.*238_*239del, NM_133274.2:c.*239del, NM_133274.2:c.*239dup, NM_133274.2:c.*238_*239dup, NM_133271.4:c.*113_*115del, NM_133271.4:c.*114_*115del, NM_133271.4:c.*115del, NM_133271.4:c.*115dup, NM_133271.4:c.*114_*115dup, NM_133271.3:c.*113_*115del, NM_133271.3:c.*114_*115del, NM_133271.3:c.*115del, NM_133271.3:c.*115dup, NM_133271.3:c.*114_*115dup, NM_133271.2:c.*113_*115del, NM_133271.2:c.*114_*115del, NM_133271.2:c.*115del, NM_133271.2:c.*115dup, NM_133271.2:c.*114_*115dup, NM_133273.4:c.*113_*115del, NM_133273.4:c.*114_*115del, NM_133273.4:c.*115del, NM_133273.4:c.*115dup, NM_133273.4:c.*114_*115dup, NM_133273.3:c.*113_*115del, NM_133273.3:c.*114_*115del, NM_133273.3:c.*115del, NM_133273.3:c.*115dup, NM_133273.3:c.*114_*115dup, NM_133273.2:c.*113_*115del, NM_133273.2:c.*114_*115del, NM_133273.2:c.*115del, NM_133273.2:c.*115dup, NM_133273.2:c.*114_*115dup, NM_133277.4:c.*113_*115del, NM_133277.4:c.*114_*115del, NM_133277.4:c.*115del, NM_133277.4:c.*115dup, NM_133277.4:c.*114_*115dup, NM_133277.3:c.*113_*115del, NM_133277.3:c.*114_*115del, NM_133277.3:c.*115del, NM_133277.3:c.*115dup, NM_133277.3:c.*114_*115dup, NM_133277.2:c.*113_*115del, NM_133277.2:c.*114_*115del, NM_133277.2:c.*115del, NM_133277.2:c.*115dup, NM_133277.2:c.*114_*115dup, XM_017026474.2:c.*113_*115del, XM_017026474.2:c.*114_*115del, XM_017026474.2:c.*115del, XM_017026474.2:c.*115dup, XM_017026474.2:c.*114_*115dup, XM_017026474.1:c.*113_*115del, XM_017026474.1:c.*114_*115del, XM_017026474.1:c.*115del, XM_017026474.1:c.*115dup, XM_017026474.1:c.*114_*115dup, XM_047438406.1:c.*113_*115del, XM_047438406.1:c.*114_*115del, XM_047438406.1:c.*115del, XM_047438406.1:c.*115dup, XM_047438406.1:c.*114_*115dup, XM_047438407.1:c.*113_*115del, XM_047438407.1:c.*114_*115del, XM_047438407.1:c.*115del, XM_047438407.1:c.*115dup, XM_047438407.1:c.*114_*115dup

Select item 148942897011.

rs1489428970 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:54885788 (GRCh38)
19:55397200 (GRCh37)
Canonical SPDI:: NC_000019.10:54885787:G:A
Gene:: FCAR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.54885788G>A, NW_004166865.1:g.860156G>A, NW_003571055.2:g.531020G>A, NW_003571055.1:g.531019G>A, NT_187693.1:g.868314G>A, NC_000019.9:g.55397200G>A, NW_003571060.1:g.790153G>A, NT_187675.1:g.256027G>A, NT_187674.1:g.171808G>A, NT_187671.1:g.164735G>A, NT_187676.1:g.161738G>A, NT_187683.1:g.160006G>A, NW_016107304.1:g.214861G>A, NT_187677.1:g.163155G>A, NW_016107312.1:g.26198C>T

Select item 148940028912.

rs1489400289 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:54881945 (GRCh38)
19:55393369 (GRCh37)
Canonical SPDI:: NC_000019.10:54881944:G:A
Gene:: FCAR (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.54881945G>A, NW_004166865.1:g.856313G>A, NW_003571055.2:g.527177G>A, NW_003571055.1:g.527176G>A, NT_187693.1:g.864483G>A, NC_000019.9:g.55393369G>A, NW_003571060.1:g.786310G>A, NT_187675.1:g.252184G>A, NT_187674.1:g.167965G>A, NT_187671.1:g.160892G>A, NT_187676.1:g.157895G>A, NT_187683.1:g.156163G>A, NW_016107304.1:g.211018G>A, NT_187677.1:g.159312G>A, NW_016107312.1:g.30041C>T

Select item 148929175213.

rs1489291752 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:54873063 (GRCh38)
19:55384519 (GRCh37)
Canonical SPDI:: NC_000019.10:54873062:A:G
Gene:: FCAR (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.54873063A>G, NW_004166865.1:g.847431A>G, NW_003571055.2:g.518331A>G, NW_003571055.1:g.518330A>G, NW_003571058.2:g.854999A>G, NW_003571058.1:g.854998A>G, NT_187693.1:g.855633A>G, NC_000019.9:g.55384519A>G, NW_003571060.1:g.777438A>G, NT_187675.1:g.243302A>G, NT_187674.1:g.159083A>G, NT_187671.1:g.152010A>G, NT_187676.1:g.149013A>G, NT_187683.1:g.147281A>G, NT_187641.1:g.8129T>C, NW_016107304.1:g.202136A>G, NW_016107306.1:g.173661A>G, NT_187636.1:g.2455T>C, NT_187677.1:g.150430A>G, NW_016107311.1:g.94185A>G, NW_016107308.1:g.95448A>G, NW_016107312.1:g.38923T>C

Select item 148927987014.

rs1489279870 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:54873432 (GRCh38)
19:55384888 (GRCh37)
Canonical SPDI:: NC_000019.10:54873431:A:G
Gene:: FCAR (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.54873432A>G, NW_004166865.1:g.847800A>G, NW_003571055.2:g.518700A>G, NW_003571055.1:g.518699A>G, NT_187693.1:g.856002A>G, NC_000019.9:g.55384888A>G, NW_003571060.1:g.777807A>G, NT_187675.1:g.243671A>G, NT_187674.1:g.159452A>G, NT_187671.1:g.152379A>G, NT_187676.1:g.149382A>G, NT_187683.1:g.147650A>G, NT_187641.1:g.7760T>C, NW_016107304.1:g.202505A>G, NW_016107306.1:g.174030A>G, NT_187636.1:g.2086T>C, NT_187677.1:g.150799A>G, NW_016107311.1:g.94554A>G, NW_016107308.1:g.95817A>G, NW_016107312.1:g.38554T>C

Select item 148923612815.

rs1489236128 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 19:54885482 (GRCh38)
19:55396895 (GRCh37)
Canonical SPDI:: NC_000019.10:54885482:T:TGT
Gene:: FCAR (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: TGT=0.000071/1 (ALFA)
TG=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.54885483_54885484insGT, NW_004166865.1:g.859851_859852insGT, NW_003571055.2:g.530715_530716insGT, NW_003571055.1:g.530714_530715insGT, NT_187693.1:g.868009_868010insGT, NC_000019.9:g.55396895_55396896insGT, NW_003571060.1:g.789848_789849insGT, NT_187675.1:g.255722_255723insGT, NT_187674.1:g.171503_171504insGT, NT_187671.1:g.164430_164431insGT, NT_187676.1:g.161433_161434insGT, NT_187683.1:g.159701_159702insGT, NW_016107304.1:g.214556_214557insGT, NT_187677.1:g.162850_162851insGT, NW_016107312.1:g.26503_26504insCA, XM_011526625.4:c.238_239insGT, XM_011526625.3:c.238_239insGT, XM_011526625.2:c.238_239insGT, XM_011526625.1:c.238_239insGT, NM_002000.4:c.319_320insGT, NM_002000.3:c.319_320insGT, NM_002000.2:c.319_320insGT, NM_133272.4:c.283_284insGT, NM_133272.3:c.283_284insGT, NM_133272.2:c.283_284insGT, NM_133269.4:c.319_320insGT, NM_133269.3:c.319_320insGT, NM_133269.2:c.319_320insGT, NM_133278.4:c.283_284insGT, NM_133278.3:c.283_284insGT, NM_133278.2:c.283_284insGT, NM_133274.4:c.283_284insGT, NM_133274.3:c.283_284insGT, NM_133274.2:c.283_284insGT, NM_133271.4:c.319_320insGT, NM_133271.3:c.319_320insGT, NM_133271.2:c.319_320insGT, NM_133273.4:c.283_284insGT, NM_133273.3:c.283_284insGT, NM_133273.2:c.283_284insGT, XM_017026474.2:c.238_239insGT, XM_017026474.1:c.238_239insGT, NM_133279.2:c.319_320insGT, XM_047438407.1:c.238_239insGT, NM_133280.1:c.283_284insGT, XM_047438406.1:c.238_239insGT, XP_011524927.1:p.Tyr80fs, NP_001991.1:p.Tyr107fs, NP_579806.1:p.Tyr95fs, NP_579803.1:p.Tyr107fs, NP_579812.1:p.Tyr95fs, NP_579808.1:p.Tyr95fs, NP_579805.1:p.Tyr107fs, NP_579807.1:p.Tyr95fs, XP_016881963.1:p.Tyr80fs, XP_047294363.1:p.Tyr80fs, XP_047294362.1:p.Tyr80fs

Select item 148903157816.

rs1489031578 [Homo sapiens]

Variant type:: INS
Alleles:: ->GG [Show Flanks]
Chromosome:: 19:54888999 (GRCh38)
19:55400367 (GRCh37)
Canonical SPDI:: NC_000019.10:54888999::GG
Gene:: FCAR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0.000224/1 (ALFA)
GG=0.000007/1 (GnomAD)
GG=0.000223/1 (Estonian)
HGVS:: NC_000019.10:g.54888999_54889000insGG, NW_004166865.1:g.863367_863368insGG, NW_003571055.2:g.534228_534229insGG, NW_003571055.1:g.534227_534228insGG, NT_187693.1:g.871480_871481insGG, NC_000019.9:g.55400366_55400367insGG, NW_003571060.1:g.793364_793365insGG, NT_187675.1:g.259238_259239insGG, NT_187674.1:g.175019_175020insGG, NT_187671.1:g.167946_167947insGG, NT_187676.1:g.164949_164950insGG, NT_187683.1:g.163217_163218insGG, NW_016107304.1:g.218072_218073insGG, NT_187677.1:g.166366_166367insGG, NW_016107312.1:g.22986_22987insCC, NM_133279.2:c.*634_*635insGG, NM_133280.1:c.*301_*302insGG

Select item 148900836517.

rs1489008365 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:54891826 (GRCh38)
19:55403192 (GRCh37)
Canonical SPDI:: NC_000019.10:54891825:G:T
Gene:: FCAR (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000042/11 (TOPMED)
T=0.001027/3 (KOREAN)
HGVS:: NC_000019.10:g.54891826G>T, NW_004166865.1:g.866194G>T, NW_003571055.2:g.537055G>T, NW_003571055.1:g.537054G>T, NT_187693.1:g.874306G>T, NC_000019.9:g.55403192G>T, NW_003571060.1:g.796191G>T, NT_187675.1:g.262065G>T, NT_187674.1:g.177846G>T, NT_187671.1:g.170773G>T, NT_187676.1:g.167776G>T, NT_187683.1:g.166044G>T, NW_016107304.1:g.220899G>T, NT_187677.1:g.169193G>T, NW_016107312.1:g.20160C>A

Select item 148889231118.

rs1488892311 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:54880111 (GRCh38)
19:55391567 (GRCh37)
Canonical SPDI:: NC_000019.10:54880110:C:T
Gene:: FCAR (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000023/6 (TOPMED)
T=0.000043/6 (GnomAD)
HGVS:: NC_000019.10:g.54880111C>T, NW_004166865.1:g.854479C>T, NW_003571055.2:g.525375C>T, NW_003571055.1:g.525374C>T, NT_187693.1:g.862681C>T, NC_000019.9:g.55391567C>T, NW_003571060.1:g.784484C>T, NT_187675.1:g.250350C>T, NT_187674.1:g.166131C>T, NT_187671.1:g.159058C>T, NT_187676.1:g.156061C>T, NT_187683.1:g.154329C>T, NT_187641.1:g.1082G>A, NW_016107304.1:g.209184C>T, NT_187677.1:g.157478C>T, NW_016107312.1:g.31875G>A

Select item 148882567519.

rs1488825675 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:54891510 (GRCh38)
19:55402876 (GRCh37)
Canonical SPDI:: NC_000019.10:54891509:G:A
Gene:: FCAR (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_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_000019.10:g.54891510G>A, NW_004166865.1:g.865878G>A, NW_003571055.2:g.536739G>A, NW_003571055.1:g.536738G>A, NT_187693.1:g.873990G>A, NC_000019.9:g.55402876G>A, NW_003571060.1:g.795875G>A, NT_187675.1:g.261749G>A, NT_187674.1:g.177530G>A, NT_187671.1:g.170457G>A, NT_187676.1:g.167460G>A, NT_187683.1:g.165728G>A, NW_016107304.1:g.220583G>A, NT_187677.1:g.168877G>A, NW_016107312.1:g.20476C>T

Select item 148868911920.

rs1488689119 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:54888999 (GRCh38)
19:55400366 (GRCh37)
Canonical SPDI:: NC_000019.10:54888998:C:T
Gene:: FCAR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.54888999C>T, NW_004166865.1:g.863367C>T, NW_003571055.2:g.534228C>T, NW_003571055.1:g.534227C>T, NT_187693.1:g.871480C>T, NC_000019.9:g.55400366C>T, NW_003571060.1:g.793364C>T, NT_187675.1:g.259238C>T, NT_187674.1:g.175019C>T, NT_187671.1:g.167946C>T, NT_187676.1:g.164949C>T, NT_187683.1:g.163217C>T, NW_016107304.1:g.218072C>T, NT_187677.1:g.166366C>T, NW_016107312.1:g.22987G>A, NM_133279.2:c.*634C>T, NM_133280.1:c.*301C>T

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