SNP Links for Gene (Select 51106) - SNP

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Select item 14915863681.

rs1491586368 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 6:155245754 (GRCh38)
6:155566888 (GRCh37)
Canonical SPDI:: NC_000006.12:155245753:AG:
Gene:: TIAM2 (Varview), TFB1M (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000018/2 (ExAC)
HGVS:: NC_000006.12:g.155245754_155245755del, NC_000006.11:g.155566888_155566889del, NG_027528.2:g.73743_73744del

Select item 14915602832.

rs1491560283 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AA,CA [Show Flanks]
Chromosome:: 6:155305247 (GRCh38)
6:155626382 (GRCh37)
Canonical SPDI:: NC_000006.12:155305247:A:AAA,NC_000006.12:155305247:A:ACA
Gene:: TFB1M (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: ACA=0./0 (ALFA)
HGVS:: NC_000006.12:g.155305248_155305249insAA, NC_000006.12:g.155305248_155305249insCA, NC_000006.11:g.155626382_155626383insAA, NC_000006.11:g.155626382_155626383insCA, NG_027528.2:g.14250_14251insTT, NG_027528.2:g.14250_14251insGT

Select item 14915589903.

rs1491558990 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 6:155265736 (GRCh38)
6:155586870 (GRCh37)
Canonical SPDI:: NC_000006.12:155265729:ATATATAT:ATATAT
Gene:: CLDN20 (Varview), TFB1M (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATATAT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.155265730AT[3], NC_000006.11:g.155586864AT[3], NG_027528.2:g.53761AT[3]

Select item 14915450344.

rs1491545034 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 6:155244962 (GRCh38)
6:155566097 (GRCh37)
Canonical SPDI:: NC_000006.12:155244962::A
Gene:: TIAM2 (Varview), TFB1M (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000057/6 (GnomAD)
HGVS:: NC_000006.12:g.155244962_155244963insA, NC_000006.11:g.155566096_155566097insA, NG_027528.2:g.74535_74536insT

Select item 14915444155.

rs1491544415 has merged into rs11435976 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTGTTTTTTTTTTTTTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:155245768 (GRCh38)
6:155566902 (GRCh37)
Canonical SPDI:: NC_000006.12:155245755:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:155245755:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:155245755:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:155245755:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:155245755:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:155245755:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:155245755:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:155245755:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT,NC_000006.12:155245755:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:155245755:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:155245755:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:155245755:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:155245755:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:155245755:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:155245755:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:155245755:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:155245755:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:155245755:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:155245755:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:155245755:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT,NC_000006.12:155245755:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:155245755:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT
Gene:: TIAM2 (Varview), TFB1M (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000006.12:g.155245768_155245770del, NC_000006.12:g.155245769_155245770del, NC_000006.12:g.155245770del, NC_000006.12:g.155245770dup, NC_000006.12:g.155245769_155245770dup, NC_000006.12:g.155245768_155245770dup, NC_000006.12:g.155245767_155245770dup, NC_000006.12:g.155245756_155245770T[19]GTTTTTTTTTTTTTTTTTT[1], NC_000006.12:g.155245766_155245770dup, NC_000006.12:g.155245765_155245770dup, NC_000006.12:g.155245764_155245770dup, NC_000006.12:g.155245763_155245770dup, NC_000006.12:g.155245762_155245770dup, NC_000006.12:g.155245761_155245770dup, NC_000006.12:g.155245759_155245770dup, NC_000006.12:g.155245757_155245770dup, NC_000006.12:g.155245770_155245771insTTTTTTTTTTTTTTTT, NC_000006.12:g.155245770_155245771insTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.155245770_155245771insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.155245756_155245770T[41]GTTTTTTTTTTTTTTTTTTTT[1], NC_000006.12:g.155245770_155245771insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.155245756_155245770T[42]GTTTTTTTTTTTTTTTTTT[1], NC_000006.11:g.155566902_155566904del, NC_000006.11:g.155566903_155566904del, NC_000006.11:g.155566904del, NC_000006.11:g.155566904dup, NC_000006.11:g.155566903_155566904dup, NC_000006.11:g.155566902_155566904dup, NC_000006.11:g.155566901_155566904dup, NC_000006.11:g.155566890_155566904T[19]GTTTTTTTTTTTTTTTTTT[1], NC_000006.11:g.155566900_155566904dup, NC_000006.11:g.155566899_155566904dup, NC_000006.11:g.155566898_155566904dup, NC_000006.11:g.155566897_155566904dup, NC_000006.11:g.155566896_155566904dup, NC_000006.11:g.155566895_155566904dup, NC_000006.11:g.155566893_155566904dup, NC_000006.11:g.155566891_155566904dup, NC_000006.11:g.155566904_155566905insTTTTTTTTTTTTTTTT, NC_000006.11:g.155566904_155566905insTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.155566904_155566905insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.155566890_155566904T[41]GTTTTTTTTTTTTTTTTTTTT[1], NC_000006.11:g.155566904_155566905insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.155566890_155566904T[42]GTTTTTTTTTTTTTTTTTT[1], NG_027528.2:g.73740_73742del, NG_027528.2:g.73741_73742del, NG_027528.2:g.73742del, NG_027528.2:g.73742dup, NG_027528.2:g.73741_73742dup, NG_027528.2:g.73740_73742dup, NG_027528.2:g.73739_73742dup, NG_027528.2:g.73728_73742A[18]CAAAAAAAAAAAAAAAAAAA[1], NG_027528.2:g.73738_73742dup, NG_027528.2:g.73737_73742dup, NG_027528.2:g.73736_73742dup, NG_027528.2:g.73735_73742dup, NG_027528.2:g.73734_73742dup, NG_027528.2:g.73733_73742dup, NG_027528.2:g.73731_73742dup, NG_027528.2:g.73729_73742dup, NG_027528.2:g.73742_73743insAAAAAAAAAAAAAAAA, NG_027528.2:g.73742_73743insAAAAAAAAAAAAAAAAAAAAAAA, NG_027528.2:g.73742_73743insAAAAAAAAAAAAAAAAAAAAAAAAA, NG_027528.2:g.73728_73742A[20]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_027528.2:g.73742_73743insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_027528.2:g.73728_73742A[18]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 14915263776.

rs1491526377 has merged into rs1160760356 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT,ATATATAT,ATATATATAT [Show Flanks]
Chromosome:: 6:155305280 (GRCh38)
6:155626414 (GRCh37)
Canonical SPDI:: NC_000006.12:155305270:TATATATATATAT:TATATATAT,NC_000006.12:155305270:TATATATATATAT:TATATATATAT,NC_000006.12:155305270:TATATATATATAT:TATATATATATATAT,NC_000006.12:155305270:TATATATATATAT:TATATATATATATATAT,NC_000006.12:155305270:TATATATATATAT:TATATATATATATATATAT
Gene:: TFB1M (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATAT=0./0 (ALFA)
HGVS:: NC_000006.12:g.155305272AT[4], NC_000006.12:g.155305272AT[5], NC_000006.12:g.155305272AT[7], NC_000006.12:g.155305272AT[8], NC_000006.12:g.155305272AT[9], NC_000006.11:g.155626406AT[4], NC_000006.11:g.155626406AT[5], NC_000006.11:g.155626406AT[7], NC_000006.11:g.155626406AT[8], NC_000006.11:g.155626406AT[9], NG_027528.2:g.14216TA[4], NG_027528.2:g.14216TA[5], NG_027528.2:g.14216TA[7], NG_027528.2:g.14216TA[8], NG_027528.2:g.14216TA[9]

Select item 14915134327.

rs1491513432 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:155257190 (GRCh38)
6:155578324 (GRCh37)
Canonical SPDI:: NC_000006.12:155257189:CA:
Gene:: TIAM2 (Varview), TFB1M (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.01062/126 (ALFA)
-=0.00127/36 (TOMMO)
-=0.00152/96 (GnomAD)
-=0.00888/16 (Korea1K)
HGVS:: NC_000006.12:g.155257190_155257191del, NC_000006.11:g.155578324_155578325del, NG_027528.2:g.62307_62308del, NM_016020.4:c.*645_*646del, NM_016020.3:c.*645_*646del, NM_001350502.2:c.*645_*646del, NM_001350502.1:c.*645_*646del, NM_001350501.2:c.*645_*646del, NM_001350501.1:c.*645_*646del, NM_012454.4:c.*69_*70del, NM_012454.3:c.*69_*70del, XM_011535873.3:c.*645_*646del, XM_011535873.2:c.*645_*646del, XM_011535873.1:c.*645_*646del, NM_001010927.3:c.*69_*70del, NM_001010927.2:c.*69_*70del, NM_001384547.1:c.*69_*70del, NM_001384546.1:c.*69_*70del

Select item 14915071868.

rs1491507186 has merged into rs60162262 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:155269333 (GRCh38)
6:155590467 (GRCh37)
Canonical SPDI:: NC_000006.12:155269324:TTTTTTTTTTTTTTT:TTTTTTTT,NC_000006.12:155269324:TTTTTTTTTTTTTTT:TTTTTTTTT,NC_000006.12:155269324:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:155269324:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:155269324:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:155269324:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:155269324:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:155269324:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:155269324:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:155269324:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:155269324:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:155269324:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:155269324:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:155269324:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:155269324:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:155269324:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:155269324:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:155269324:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:155269324:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:155269324:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:155269324:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:155269324:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:155269324:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:155269324:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:155269324:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:155269324:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:155269324:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:155269324:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CLDN20 (Varview), TFB1M (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
TTT=0.382/1913 (1000Genomes)
HGVS:: NC_000006.12:g.155269333_155269339del, NC_000006.12:g.155269334_155269339del, NC_000006.12:g.155269335_155269339del, NC_000006.12:g.155269336_155269339del, NC_000006.12:g.155269337_155269339del, NC_000006.12:g.155269338_155269339del, NC_000006.12:g.155269339del, NC_000006.12:g.155269339dup, NC_000006.12:g.155269338_155269339dup, NC_000006.12:g.155269337_155269339dup, NC_000006.12:g.155269336_155269339dup, NC_000006.12:g.155269335_155269339dup, NC_000006.12:g.155269334_155269339dup, NC_000006.12:g.155269333_155269339dup, NC_000006.12:g.155269332_155269339dup, NC_000006.12:g.155269331_155269339dup, NC_000006.12:g.155269330_155269339dup, NC_000006.12:g.155269329_155269339dup, NC_000006.12:g.155269328_155269339dup, NC_000006.12:g.155269327_155269339dup, NC_000006.12:g.155269326_155269339dup, NC_000006.12:g.155269325_155269339dup, NC_000006.12:g.155269339_155269340insTTTTTTTTTTTTTTTT, NC_000006.12:g.155269339_155269340insTTTTTTTTTTTTTTTTT, NC_000006.12:g.155269339_155269340insTTTTTTTTTTTTTTTTTT, NC_000006.12:g.155269339_155269340insTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.155269339_155269340insTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.155269339_155269340insTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.155590467_155590473del, NC_000006.11:g.155590468_155590473del, NC_000006.11:g.155590469_155590473del, NC_000006.11:g.155590470_155590473del, NC_000006.11:g.155590471_155590473del, NC_000006.11:g.155590472_155590473del, NC_000006.11:g.155590473del, NC_000006.11:g.155590473dup, NC_000006.11:g.155590472_155590473dup, NC_000006.11:g.155590471_155590473dup, NC_000006.11:g.155590470_155590473dup, NC_000006.11:g.155590469_155590473dup, NC_000006.11:g.155590468_155590473dup, NC_000006.11:g.155590467_155590473dup, NC_000006.11:g.155590466_155590473dup, NC_000006.11:g.155590465_155590473dup, NC_000006.11:g.155590464_155590473dup, NC_000006.11:g.155590463_155590473dup, NC_000006.11:g.155590462_155590473dup, NC_000006.11:g.155590461_155590473dup, NC_000006.11:g.155590460_155590473dup, NC_000006.11:g.155590459_155590473dup, NC_000006.11:g.155590473_155590474insTTTTTTTTTTTTTTTT, NC_000006.11:g.155590473_155590474insTTTTTTTTTTTTTTTTT, NC_000006.11:g.155590473_155590474insTTTTTTTTTTTTTTTTTT, NC_000006.11:g.155590473_155590474insTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.155590473_155590474insTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.155590473_155590474insTTTTTTTTTTTTTTTTTTTTT, NG_027528.2:g.50167_50173del, NG_027528.2:g.50168_50173del, NG_027528.2:g.50169_50173del, NG_027528.2:g.50170_50173del, NG_027528.2:g.50171_50173del, NG_027528.2:g.50172_50173del, NG_027528.2:g.50173del, NG_027528.2:g.50173dup, NG_027528.2:g.50172_50173dup, NG_027528.2:g.50171_50173dup, NG_027528.2:g.50170_50173dup, NG_027528.2:g.50169_50173dup, NG_027528.2:g.50168_50173dup, NG_027528.2:g.50167_50173dup, NG_027528.2:g.50166_50173dup, NG_027528.2:g.50165_50173dup, NG_027528.2:g.50164_50173dup, NG_027528.2:g.50163_50173dup, NG_027528.2:g.50162_50173dup, NG_027528.2:g.50161_50173dup, NG_027528.2:g.50160_50173dup, NG_027528.2:g.50159_50173dup, NG_027528.2:g.50173_50174insAAAAAAAAAAAAAAAA, NG_027528.2:g.50173_50174insAAAAAAAAAAAAAAAAA, NG_027528.2:g.50173_50174insAAAAAAAAAAAAAAAAAA, NG_027528.2:g.50173_50174insAAAAAAAAAAAAAAAAAAA, NG_027528.2:g.50173_50174insAAAAAAAAAAAAAAAAAAAA, NG_027528.2:g.50173_50174insAAAAAAAAAAAAAAAAAAAAA

Select item 14914998839.

rs1491499883 has merged into rs34963232 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,TT,TTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 6:155232275 (GRCh38)
6:155553409 (GRCh37)
Canonical SPDI:: NC_000006.12:155232268:TTTTTTTTTT:TTTTTT,NC_000006.12:155232268:TTTTTTTTTT:TTTTTTTT,NC_000006.12:155232268:TTTTTTTTTT:TTTTTTTTT,NC_000006.12:155232268:TTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:155232268:TTTTTTTTTT:TTTTTTTTTTTT
Gene:: TIAM2 (Varview), TFB1M (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.08617/86 (GoNL)
-=0.12344/553 (Estonian)
-=0.125/75 (NorthernSweden)
-=0.175/7 (GENOME_DK)
-=0.24296/1121 (1000Genomes)
HGVS:: NC_000006.12:g.155232275_155232278del, NC_000006.12:g.155232277_155232278del, NC_000006.12:g.155232278del, NC_000006.12:g.155232278dup, NC_000006.12:g.155232277_155232278dup, NC_000006.11:g.155553409_155553412del, NC_000006.11:g.155553411_155553412del, NC_000006.11:g.155553412del, NC_000006.11:g.155553412dup, NC_000006.11:g.155553411_155553412dup, NG_027528.2:g.87226_87229del, NG_027528.2:g.87228_87229del, NG_027528.2:g.87229del, NG_027528.2:g.87229dup, NG_027528.2:g.87228_87229dup, XM_047418852.1:c.*983_*986del, XM_047418852.1:c.*985_*986del, XM_047418852.1:c.*986del, XM_047418852.1:c.*986dup, XM_047418852.1:c.*985_*986dup

Select item 149148264510.

rs1491482645 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:155266846 (GRCh38)
6:155587980 (GRCh37)
Canonical SPDI:: NC_000006.12:155266845:CA:
Gene:: CLDN20 (Varview), TFB1M (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000006.12:g.155266846_155266847del, NC_000006.11:g.155587980_155587981del, NG_027528.2:g.52651_52652del

Select item 149146287311.

rs1491462873 has merged into rs34485998 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,AA,AAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 6:155281827 (GRCh38)
6:155602961 (GRCh37)
Canonical SPDI:: NC_000006.12:155281821:AAAAAAAAA:AAAAA,NC_000006.12:155281821:AAAAAAAAA:AAAAAAA,NC_000006.12:155281821:AAAAAAAAA:AAAAAAAA,NC_000006.12:155281821:AAAAAAAAA:AAAAAAAAAA,NC_000006.12:155281821:AAAAAAAAA:AAAAAAAAAAA
Gene:: TFB1M (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
A=0.4092/1386 (1000Genomes)
HGVS:: NC_000006.12:g.155281827_155281830del, NC_000006.12:g.155281829_155281830del, NC_000006.12:g.155281830del, NC_000006.12:g.155281830dup, NC_000006.12:g.155281829_155281830dup, NC_000006.11:g.155602961_155602964del, NC_000006.11:g.155602963_155602964del, NC_000006.11:g.155602964del, NC_000006.11:g.155602964dup, NC_000006.11:g.155602963_155602964dup, NG_027528.2:g.37673_37676del, NG_027528.2:g.37675_37676del, NG_027528.2:g.37676del, NG_027528.2:g.37676dup, NG_027528.2:g.37675_37676dup

Select item 149145650612.

rs1491456506 [Homo sapiens]

Variant type:: INS
Alleles:: ->CAA [Show Flanks]
Chromosome:: 6:155281721 (GRCh38)
6:155602856 (GRCh37)
Canonical SPDI:: NC_000006.12:155281721::CAA
Gene:: TFB1M (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CAA=0./0 (ALFA)
HGVS:: NC_000006.12:g.155281721_155281722insCAA, NC_000006.11:g.155602855_155602856insCAA, NG_027528.2:g.37776_37777insTTG

Select item 149145303513.

rs1491453035 has merged into rs71268483 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:155244969 (GRCh38)
6:155566103 (GRCh37)
Canonical SPDI:: NC_000006.12:155244961:TTTTTTTTT:TTTTTTT,NC_000006.12:155244961:TTTTTTTTT:TTTTTTTT,NC_000006.12:155244961:TTTTTTTTT:TTTTTTTTTT,NC_000006.12:155244961:TTTTTTTTT:TTTTTTTTTTT,NC_000006.12:155244961:TTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: TIAM2 (Varview), TFB1M (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
T=0.11165/559 (1000Genomes)
T=0.18647/835 (Estonian)
T=0.19539/195 (GoNL)
T=0.22314/860 (ALSPAC)
T=0.225/9 (GENOME_DK)
T=0.22667/136 (NorthernSweden)
T=0.22816/846 (TWINSUK)
HGVS:: NC_000006.12:g.155244969_155244970del, NC_000006.12:g.155244970del, NC_000006.12:g.155244970dup, NC_000006.12:g.155244969_155244970dup, NC_000006.12:g.155244970_155244971insTTTTTTTTTTTT, NC_000006.11:g.155566103_155566104del, NC_000006.11:g.155566104del, NC_000006.11:g.155566104dup, NC_000006.11:g.155566103_155566104dup, NC_000006.11:g.155566104_155566105insTTTTTTTTTTTT, NG_027528.2:g.74535_74536del, NG_027528.2:g.74536del, NG_027528.2:g.74536dup, NG_027528.2:g.74535_74536dup, NG_027528.2:g.74536_74537insAAAAAAAAAAAA

Select item 149144621314.

rs1491446213 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: 6:155305570 (GRCh38)
6:155626705 (GRCh37)
Canonical SPDI:: NC_000006.12:155305570:A:ACA
Gene:: TFB1M (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: ACA=0./0 (ALFA)
HGVS:: NC_000006.12:g.155305571_155305572insCA, NC_000006.11:g.155626705_155626706insCA, NG_027528.2:g.13927_13928insGT

Select item 149144091715.

rs1491440917 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 6:155230835 (GRCh38)
6:155551969 (GRCh37)
Canonical SPDI:: NC_000006.12:155230834:AC:
Gene:: TIAM2 (Varview), TFB1M (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.001026/17 (TOMMO)
HGVS:: NC_000006.12:g.155230835_155230836del, NC_000006.11:g.155551969_155551970del, NG_027528.2:g.88662_88663del, XM_047418852.1:c.*2419_*2420del, XR_007059269.1:n.1422_1423del

Select item 149143796616.

rs1491437966 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AATATATA [Show Flanks]
Chromosome:: 6:155305722 (GRCh38)
6:155626857 (GRCh37)
Canonical SPDI:: NC_000006.12:155305722:ATATATA:ATATATAAATATATA
Gene:: TFB1M (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: ATATATAAATATATA=0./0 (ALFA)
HGVS:: NC_000006.12:g.155305723_155305729AT[3]AAATATATA[1], NC_000006.11:g.155626857_155626863AT[3]AAATATATA[1], NG_027528.2:g.13769_13775TA[3]TTTATATAT[1]

Select item 149142453817.

rs1491424538 has merged into rs1213939199 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:155266854 (GRCh38)
6:155587988 (GRCh37)
Canonical SPDI:: NC_000006.12:155266846:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000006.12:155266846:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:155266846:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:155266846:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:155266846:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:155266846:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:155266846:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:155266846:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:155266846:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:155266846:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:155266846:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:155266846:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:155266846:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:155266846:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:155266846:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:155266846:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:155266846:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:155266846:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:155266846:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:155266846:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:155266846:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CLDN20 (Varview), TFB1M (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
HGVS:: NC_000006.12:g.155266854_155266872del, NC_000006.12:g.155266858_155266872del, NC_000006.12:g.155266859_155266872del, NC_000006.12:g.155266860_155266872del, NC_000006.12:g.155266861_155266872del, NC_000006.12:g.155266862_155266872del, NC_000006.12:g.155266863_155266872del, NC_000006.12:g.155266865_155266872del, NC_000006.12:g.155266866_155266872del, NC_000006.12:g.155266868_155266872del, NC_000006.12:g.155266869_155266872del, NC_000006.12:g.155266870_155266872del, NC_000006.12:g.155266871_155266872del, NC_000006.12:g.155266872del, NC_000006.12:g.155266872dup, NC_000006.12:g.155266871_155266872dup, NC_000006.12:g.155266870_155266872dup, NC_000006.12:g.155266869_155266872dup, NC_000006.12:g.155266868_155266872dup, NC_000006.12:g.155266866_155266872dup, NC_000006.12:g.155266865_155266872dup, NC_000006.11:g.155587988_155588006del, NC_000006.11:g.155587992_155588006del, NC_000006.11:g.155587993_155588006del, NC_000006.11:g.155587994_155588006del, NC_000006.11:g.155587995_155588006del, NC_000006.11:g.155587996_155588006del, NC_000006.11:g.155587997_155588006del, NC_000006.11:g.155587999_155588006del, NC_000006.11:g.155588000_155588006del, NC_000006.11:g.155588002_155588006del, NC_000006.11:g.155588003_155588006del, NC_000006.11:g.155588004_155588006del, NC_000006.11:g.155588005_155588006del, NC_000006.11:g.155588006del, NC_000006.11:g.155588006dup, NC_000006.11:g.155588005_155588006dup, NC_000006.11:g.155588004_155588006dup, NC_000006.11:g.155588003_155588006dup, NC_000006.11:g.155588002_155588006dup, NC_000006.11:g.155588000_155588006dup, NC_000006.11:g.155587999_155588006dup, NG_027528.2:g.52633_52651del, NG_027528.2:g.52637_52651del, NG_027528.2:g.52638_52651del, NG_027528.2:g.52639_52651del, NG_027528.2:g.52640_52651del, NG_027528.2:g.52641_52651del, NG_027528.2:g.52642_52651del, NG_027528.2:g.52644_52651del, NG_027528.2:g.52645_52651del, NG_027528.2:g.52647_52651del, NG_027528.2:g.52648_52651del, NG_027528.2:g.52649_52651del, NG_027528.2:g.52650_52651del, NG_027528.2:g.52651del, NG_027528.2:g.52651dup, NG_027528.2:g.52650_52651dup, NG_027528.2:g.52649_52651dup, NG_027528.2:g.52648_52651dup, NG_027528.2:g.52647_52651dup, NG_027528.2:g.52645_52651dup, NG_027528.2:g.52644_52651dup

Select item 149141349118.

rs1491413491 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 6:155305480 (GRCh38)
6:155626614 (GRCh37)
Canonical SPDI:: NC_000006.12:155305479:AT:
Gene:: TFB1M (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000006.12:g.155305480_155305481del, NC_000006.11:g.155626614_155626615del, NG_027528.2:g.14017_14018del

Select item 149138233019.

rs1491382330 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 6:155230786 (GRCh38)
6:155551920 (GRCh37)
Canonical SPDI:: NC_000006.12:155230785:AG:
Gene:: TIAM2 (Varview), TFB1M (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: -=0.0091/35 (ALSPAC)
-=0.0094/35 (TWINSUK)
HGVS:: NC_000006.12:g.155230786_155230787del, NC_000006.11:g.155551920_155551921del, NG_027528.2:g.88711_88712del, XM_047418852.1:c.*2468_*2469del, XR_007059269.1:n.1471_1472del

Select item 149136487020.

rs1491364870 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAA [Show Flanks]
Chromosome:: 6:155268403 (GRCh38)
6:155589538 (GRCh37)
Canonical SPDI:: NC_000006.12:155268403:ATAA:ATAATAA
Gene:: CLDN20 (Varview), TFB1M (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAATAA=0./0 (ALFA)
ATA=0.000014/2 (GnomAD)
ATA=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.155268405_155268407dup, NC_000006.11:g.155589539_155589541dup, NG_027528.2:g.51092_51094dup

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