SNP Links for Gene (Select 80127) - SNP

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Select item 14915748431.

rs1491574843 has merged into rs1395442326 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGA>-,GA,GAGAGA [Show Flanks]
Chromosome:: 14:74026159 (GRCh38)
14:74492862 (GRCh37)
Canonical SPDI:: NC_000014.9:74026153:AGAGAGAGA:AGAGA,NC_000014.9:74026153:AGAGAGAGA:AGAGAGA,NC_000014.9:74026153:AGAGAGAGA:AGAGAGAGAGA
Gene:: BBOF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGA=0./0 (ALFA)
AG=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.74026155GA[2], NC_000014.9:g.74026155GA[3], NC_000014.9:g.74026155GA[5], NC_000014.8:g.74492858GA[2], NC_000014.8:g.74492858GA[3], NC_000014.8:g.74492858GA[5], NG_033060.1:g.11800GA[2], NG_033060.1:g.11800GA[3], NG_033060.1:g.11800GA[5]

Select item 14915727142.

rs1491572714 has merged into rs200205554 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT [Show Flanks]
Chromosome:: 14:74058607 (GRCh38)
14:74525310 (GRCh37)
Canonical SPDI:: NC_000014.9:74058596:TTTTTTTTTTTT:TTTTTTTTTT,NC_000014.9:74058596:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:74058596:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:74058596:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:74058596:TTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: ALDH6A1 (Varview), BBOF1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.19/114 (NorthernSweden)
T=0.20654/796 (ALSPAC)
T=0.20793/771 (TWINSUK)
T=0.3/12 (GENOME_DK)
T=0.30511/1528 (1000Genomes)
HGVS:: NC_000014.9:g.74058607_74058608del, NC_000014.9:g.74058608del, NC_000014.9:g.74058608dup, NC_000014.9:g.74058607_74058608dup, NC_000014.9:g.74058606_74058608dup, NC_000014.8:g.74525310_74525311del, NC_000014.8:g.74525311del, NC_000014.8:g.74525311dup, NC_000014.8:g.74525310_74525311dup, NC_000014.8:g.74525309_74525311dup, NG_012257.2:g.30896_30897del, NG_012257.2:g.30897del, NG_012257.2:g.30897dup, NG_012257.2:g.30896_30897dup, NG_012257.2:g.30895_30897dup, NM_005589.4:c.*2044_*2045del, NM_005589.4:c.*2045del, NM_005589.4:c.*2045dup, NM_005589.4:c.*2044_*2045dup, NM_005589.4:c.*2043_*2045dup, NM_005589.3:c.*2044_*2045del, NM_005589.3:c.*2045del, NM_005589.3:c.*2045dup, NM_005589.3:c.*2044_*2045dup, NM_005589.3:c.*2043_*2045dup, NM_001278594.2:c.*2044_*2045del, NM_001278594.2:c.*2045del, NM_001278594.2:c.*2045dup, NM_001278594.2:c.*2044_*2045dup, NM_001278594.2:c.*2043_*2045dup, NM_001278594.1:c.*2044_*2045del, NM_001278594.1:c.*2045del, NM_001278594.1:c.*2045dup, NM_001278594.1:c.*2044_*2045dup, NM_001278594.1:c.*2043_*2045dup, NM_001278593.2:c.*2044_*2045del, NM_001278593.2:c.*2045del, NM_001278593.2:c.*2045dup, NM_001278593.2:c.*2044_*2045dup, NM_001278593.2:c.*2043_*2045dup, NM_001278593.1:c.*2044_*2045del, NM_001278593.1:c.*2045del, NM_001278593.1:c.*2045dup, NM_001278593.1:c.*2044_*2045dup, NM_001278593.1:c.*2043_*2045dup, NG_033060.1:g.44252_44253del, NG_033060.1:g.44253del, NG_033060.1:g.44253dup, NG_033060.1:g.44252_44253dup, NG_033060.1:g.44251_44253dup

Select item 14915486493.

rs1491548649 has merged into rs368051564 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 14:74064309 (GRCh38)
14:74531012 (GRCh37)
Canonical SPDI:: NC_000014.9:74064297:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:74064297:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:74064297:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:74064297:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:74064297:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:74064297:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:74064297:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:74064297:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:74064297:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: ALDH6A1 (Varview), BBOF1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0.0004/5 (ALFA)
A=0.09732/58 (NorthernSweden)
A=0.175/7 (GENOME_DK)
HGVS:: NC_000014.9:g.74064309_74064311del, NC_000014.9:g.74064310_74064311del, NC_000014.9:g.74064311del, NC_000014.9:g.74064311dup, NC_000014.9:g.74064310_74064311dup, NC_000014.9:g.74064309_74064311dup, NC_000014.9:g.74064308_74064311dup, NC_000014.9:g.74064307_74064311dup, NC_000014.9:g.74064306_74064311dup, NC_000014.8:g.74531012_74531014del, NC_000014.8:g.74531013_74531014del, NC_000014.8:g.74531014del, NC_000014.8:g.74531014dup, NC_000014.8:g.74531013_74531014dup, NC_000014.8:g.74531012_74531014dup, NC_000014.8:g.74531011_74531014dup, NC_000014.8:g.74531010_74531014dup, NC_000014.8:g.74531009_74531014dup, NG_012257.2:g.25194_25196del, NG_012257.2:g.25195_25196del, NG_012257.2:g.25196del, NG_012257.2:g.25196dup, NG_012257.2:g.25195_25196dup, NG_012257.2:g.25194_25196dup, NG_012257.2:g.25193_25196dup, NG_012257.2:g.25192_25196dup, NG_012257.2:g.25191_25196dup, NG_033060.1:g.49954_49956del, NG_033060.1:g.49955_49956del, NG_033060.1:g.49956del, NG_033060.1:g.49956dup, NG_033060.1:g.49955_49956dup, NG_033060.1:g.49954_49956dup, NG_033060.1:g.49953_49956dup, NG_033060.1:g.49952_49956dup, NG_033060.1:g.49951_49956dup

Select item 14915228464.

rs1491522846 [Homo sapiens]

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

Select item 14915198345.

rs1491519834 has merged into rs5809644 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT [Show Flanks]
Chromosome:: 14:74074001 (GRCh38)
14:74540704 (GRCh37)
Canonical SPDI:: NC_000014.9:74073989:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:74073989:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:74073989:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:74073989:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: ALDH6A1 (Varview), BBOF1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0.0001/1 (ALFA)
-=0.3477/1504 (1000Genomes)
HGVS:: NC_000014.9:g.74074001_74074003del, NC_000014.9:g.74074002_74074003del, NC_000014.9:g.74074003del, NC_000014.9:g.74074003dup, NC_000014.8:g.74540704_74540706del, NC_000014.8:g.74540705_74540706del, NC_000014.8:g.74540706del, NC_000014.8:g.74540706dup, NG_012257.2:g.15502_15504del, NG_012257.2:g.15503_15504del, NG_012257.2:g.15504del, NG_012257.2:g.15504dup

Select item 14915082226.

rs1491508222 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>-,GAGA,GAGAGA,GAGAGAGAGA,GAGAGAGAGAGA [Show Flanks]
Chromosome:: 14:74030951 (GRCh38)
14:74497654 (GRCh37)
Canonical SPDI:: NC_000014.9:74030939:AGAGAGAGAGAGA:AGAGAGAGAGA,NC_000014.9:74030939:AGAGAGAGAGAGA:AGAGAGAGAGAGAGA,NC_000014.9:74030939:AGAGAGAGAGAGA:AGAGAGAGAGAGAGAGA,NC_000014.9:74030939:AGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGA,NC_000014.9:74030939:AGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGA
Gene:: BBOF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGA=0.000757/12 (ALFA)
AGAG=0.000026/7 (TOPMED)
HGVS:: NC_000014.9:g.74030941GA[5], NC_000014.9:g.74030941GA[7], NC_000014.9:g.74030941GA[8], NC_000014.9:g.74030941GA[10], NC_000014.9:g.74030941GA[11], NC_000014.8:g.74497644GA[5], NC_000014.8:g.74497644GA[7], NC_000014.8:g.74497644GA[8], NC_000014.8:g.74497644GA[10], NC_000014.8:g.74497644GA[11], NG_033060.1:g.16586GA[5], NG_033060.1:g.16586GA[7], NG_033060.1:g.16586GA[8], NG_033060.1:g.16586GA[10], NG_033060.1:g.16586GA[11]

Select item 14914668427.

rs1491466842 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 14:74028948 (GRCh38)
14:74495651 (GRCh37)
Canonical SPDI:: NC_000014.9:74028947:CC:
Gene:: BBOF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.0259/100 (ALSPAC)
-=0.0324/120 (TWINSUK)
HGVS:: NC_000014.9:g.74028948_74028949del, NC_000014.8:g.74495651_74495652del, NG_033060.1:g.14593_14594del

Select item 14914237688.

rs1491423768 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,CACAC,CACACAC,CACACACAC,CACACACACAC,CACATAG [Show Flanks]
Chromosome:: 14:74028512 (GRCh38)
14:74495216 (GRCh37)
Canonical SPDI:: NC_000014.9:74028512::C,NC_000014.9:74028512::CACAC,NC_000014.9:74028512::CACACAC,NC_000014.9:74028512::CACACACAC,NC_000014.9:74028512::CACACACACAC,NC_000014.9:74028512::CACATAG
Gene:: BBOF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACATAG=0./0 (ALFA)
CACACACAC=0.00007/1 (TOMMO)
HGVS:: NC_000014.9:g.74028512_74028513insC, NC_000014.9:g.74028512_74028513insCACAC, NC_000014.9:g.74028512_74028513insCACACAC, NC_000014.9:g.74028512_74028513insCACACACAC, NC_000014.9:g.74028512_74028513insCACACACACAC, NC_000014.9:g.74028512_74028513insCACATAG, NC_000014.8:g.74495215_74495216insC, NC_000014.8:g.74495215_74495216insCACAC, NC_000014.8:g.74495215_74495216insCACACAC, NC_000014.8:g.74495215_74495216insCACACACAC, NC_000014.8:g.74495215_74495216insCACACACACAC, NC_000014.8:g.74495215_74495216insCACATAG, NG_033060.1:g.14157_14158insC, NG_033060.1:g.14157_14158insCACAC, NG_033060.1:g.14157_14158insCACACAC, NG_033060.1:g.14157_14158insCACACACAC, NG_033060.1:g.14157_14158insCACACACACAC, NG_033060.1:g.14157_14158insCACATAG

Select item 14914088949.

rs1491408894 has merged into rs530371320 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACA>-,CACA,CACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA [Show Flanks]
Chromosome:: 14:74028961 (GRCh38)
14:74495664 (GRCh37)
Canonical SPDI:: NC_000014.9:74028948:CACACACACACACACACACA:CACACACACACA,NC_000014.9:74028948:CACACACACACACACACACA:CACACACACACACACA,NC_000014.9:74028948:CACACACACACACACACACA:CACACACACACACACACA,NC_000014.9:74028948:CACACACACACACACACACA:CACACACACACACACACACACA,NC_000014.9:74028948:CACACACACACACACACACA:CACACACACACACACACACACACA,NC_000014.9:74028948:CACACACACACACACACACA:CACACACACACACACACACACACACA,NC_000014.9:74028948:CACACACACACACACACACA:CACACACACACACACACACACACACACA
Gene:: BBOF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACACACA=0./0 (ALFA)
CACA=0.095/476 (1000Genomes)
HGVS:: NC_000014.9:g.74028949CA[6], NC_000014.9:g.74028949CA[8], NC_000014.9:g.74028949CA[9], NC_000014.9:g.74028949CA[11], NC_000014.9:g.74028949CA[12], NC_000014.9:g.74028949CA[13], NC_000014.9:g.74028949CA[14], NC_000014.8:g.74495652CA[6], NC_000014.8:g.74495652CA[8], NC_000014.8:g.74495652CA[9], NC_000014.8:g.74495652CA[11], NC_000014.8:g.74495652CA[12], NC_000014.8:g.74495652CA[13], NC_000014.8:g.74495652CA[14], NG_033060.1:g.14594CA[6], NG_033060.1:g.14594CA[8], NG_033060.1:g.14594CA[9], NG_033060.1:g.14594CA[11], NG_033060.1:g.14594CA[12], NG_033060.1:g.14594CA[13], NG_033060.1:g.14594CA[14]

Select item 149140259910.

rs1491402599 [Homo sapiens]

Variant type:: INS
Alleles:: ->CCTTTTT [Show Flanks]
Chromosome:: 14:74054676 (GRCh38)
14:74521380 (GRCh37)
Canonical SPDI:: NC_000014.9:74054676::CCTTTTT
Gene:: BBOF1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: CCTTTTT=0.000009/1 (GnomAD)
HGVS:: NC_000014.9:g.74054676_74054677insCCTTTTT, NC_000014.8:g.74521379_74521380insCCTTTTT, NG_033060.1:g.40321_40322insCCTTTTT

Select item 149134542711.

rs1491345427 has merged into rs71460945 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTTTTT>-,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 14:74035591 (GRCh38)
14:74502294 (GRCh37)
Canonical SPDI:: NC_000014.9:74035584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTT,NC_000014.9:74035584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:74035584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:74035584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:74035584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:74035584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:74035584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:74035584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:74035584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:74035584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:74035584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:74035584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:74035584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:74035584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:74035584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:74035584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:74035584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:74035584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:74035584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:74035584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:74035584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:74035584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:74035584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:74035584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:74035584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:74035584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:74035584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:74035584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:74035584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:74035584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:74035584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:74035584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:74035584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:74035584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:74035584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:74035584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:74035584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:74035584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:74035584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:74035584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:74035584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:74035584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:74035584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:74035584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:74035584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: BBOF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTT=0./0 (ALFA)
HGVS:: NC_000014.9:g.74035591_74035612del, NC_000014.9:g.74035598_74035612del, NC_000014.9:g.74035599_74035612del, NC_000014.9:g.74035600_74035612del, NC_000014.9:g.74035601_74035612del, NC_000014.9:g.74035602_74035612del, NC_000014.9:g.74035603_74035612del, NC_000014.9:g.74035604_74035612del, NC_000014.9:g.74035605_74035612del, NC_000014.9:g.74035606_74035612del, NC_000014.9:g.74035607_74035612del, NC_000014.9:g.74035608_74035612del, NC_000014.9:g.74035609_74035612del, NC_000014.9:g.74035610_74035612del, NC_000014.9:g.74035611_74035612del, NC_000014.9:g.74035612del, NC_000014.9:g.74035612dup, NC_000014.9:g.74035611_74035612dup, NC_000014.9:g.74035610_74035612dup, NC_000014.9:g.74035609_74035612dup, NC_000014.9:g.74035608_74035612dup, NC_000014.9:g.74035607_74035612dup, NC_000014.9:g.74035606_74035612dup, NC_000014.9:g.74035605_74035612dup, NC_000014.9:g.74035604_74035612dup, NC_000014.9:g.74035603_74035612dup, NC_000014.9:g.74035602_74035612dup, NC_000014.9:g.74035601_74035612dup, NC_000014.9:g.74035600_74035612dup, NC_000014.9:g.74035599_74035612dup, NC_000014.9:g.74035598_74035612dup, NC_000014.9:g.74035597_74035612dup, NC_000014.9:g.74035596_74035612dup, NC_000014.9:g.74035595_74035612dup, NC_000014.9:g.74035594_74035612dup, NC_000014.9:g.74035593_74035612dup, NC_000014.9:g.74035592_74035612dup, NC_000014.9:g.74035591_74035612dup, NC_000014.9:g.74035589_74035612dup, NC_000014.9:g.74035588_74035612dup, NC_000014.9:g.74035586_74035612dup, NC_000014.9:g.74035585_74035612dup, NC_000014.9:g.74035612_74035613insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.74035612_74035613insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.74035612_74035613insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.74502294_74502315del, NC_000014.8:g.74502301_74502315del, NC_000014.8:g.74502302_74502315del, NC_000014.8:g.74502303_74502315del, NC_000014.8:g.74502304_74502315del, NC_000014.8:g.74502305_74502315del, NC_000014.8:g.74502306_74502315del, NC_000014.8:g.74502307_74502315del, NC_000014.8:g.74502308_74502315del, NC_000014.8:g.74502309_74502315del, NC_000014.8:g.74502310_74502315del, NC_000014.8:g.74502311_74502315del, NC_000014.8:g.74502312_74502315del, NC_000014.8:g.74502313_74502315del, NC_000014.8:g.74502314_74502315del, NC_000014.8:g.74502315del, NC_000014.8:g.74502315dup, NC_000014.8:g.74502314_74502315dup, NC_000014.8:g.74502313_74502315dup, NC_000014.8:g.74502312_74502315dup, NC_000014.8:g.74502311_74502315dup, NC_000014.8:g.74502310_74502315dup, NC_000014.8:g.74502309_74502315dup, NC_000014.8:g.74502308_74502315dup, NC_000014.8:g.74502307_74502315dup, NC_000014.8:g.74502306_74502315dup, NC_000014.8:g.74502305_74502315dup, NC_000014.8:g.74502304_74502315dup, NC_000014.8:g.74502303_74502315dup, NC_000014.8:g.74502302_74502315dup, NC_000014.8:g.74502301_74502315dup, NC_000014.8:g.74502300_74502315dup, NC_000014.8:g.74502299_74502315dup, NC_000014.8:g.74502298_74502315dup, NC_000014.8:g.74502297_74502315dup, NC_000014.8:g.74502296_74502315dup, NC_000014.8:g.74502295_74502315dup, NC_000014.8:g.74502294_74502315dup, NC_000014.8:g.74502292_74502315dup, NC_000014.8:g.74502291_74502315dup, NC_000014.8:g.74502289_74502315dup, NC_000014.8:g.74502288_74502315dup, NC_000014.8:g.74502315_74502316insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.74502315_74502316insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.74502315_74502316insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_033060.1:g.21236_21257del, NG_033060.1:g.21243_21257del, NG_033060.1:g.21244_21257del, NG_033060.1:g.21245_21257del, NG_033060.1:g.21246_21257del, NG_033060.1:g.21247_21257del, NG_033060.1:g.21248_21257del, NG_033060.1:g.21249_21257del, NG_033060.1:g.21250_21257del, NG_033060.1:g.21251_21257del, NG_033060.1:g.21252_21257del, NG_033060.1:g.21253_21257del, NG_033060.1:g.21254_21257del, NG_033060.1:g.21255_21257del, NG_033060.1:g.21256_21257del, NG_033060.1:g.21257del, NG_033060.1:g.21257dup, NG_033060.1:g.21256_21257dup, NG_033060.1:g.21255_21257dup, NG_033060.1:g.21254_21257dup, NG_033060.1:g.21253_21257dup, NG_033060.1:g.21252_21257dup, NG_033060.1:g.21251_21257dup, NG_033060.1:g.21250_21257dup, NG_033060.1:g.21249_21257dup, NG_033060.1:g.21248_21257dup, NG_033060.1:g.21247_21257dup, NG_033060.1:g.21246_21257dup, NG_033060.1:g.21245_21257dup, NG_033060.1:g.21244_21257dup, NG_033060.1:g.21243_21257dup, NG_033060.1:g.21242_21257dup, NG_033060.1:g.21241_21257dup, NG_033060.1:g.21240_21257dup, NG_033060.1:g.21239_21257dup, NG_033060.1:g.21238_21257dup, NG_033060.1:g.21237_21257dup, NG_033060.1:g.21236_21257dup, NG_033060.1:g.21234_21257dup, NG_033060.1:g.21233_21257dup, NG_033060.1:g.21231_21257dup, NG_033060.1:g.21230_21257dup, NG_033060.1:g.21257_21258insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_033060.1:g.21257_21258insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_033060.1:g.21257_21258insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149128865312.

rs1491288653 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 14:74073989 (GRCh38)
14:74540692 (GRCh37)
Canonical SPDI:: NC_000014.9:74073988:AT:
Gene:: ALDH6A1 (Varview), BBOF1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000014.9:g.74073989_74073990del, NC_000014.8:g.74540692_74540693del, NG_012257.2:g.15504_15505del

Select item 149127599713.

rs1491275997 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 14:74026154 (GRCh38)
14:74492858 (GRCh37)
Canonical SPDI:: NC_000014.9:74026154::T
Gene:: BBOF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000055/7 (GnomAD)
HGVS:: NC_000014.9:g.74026154_74026155insT, NC_000014.8:g.74492857_74492858insT, NG_033060.1:g.11799_11800insT

Select item 149125484914.

rs1491254849 has merged into rs35760969 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,AA,AAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 14:74059093 (GRCh38)
14:74525796 (GRCh37)
Canonical SPDI:: NC_000014.9:74059084:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000014.9:74059084:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000014.9:74059084:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:74059084:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:74059084:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:74059084:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:74059084:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:74059084:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:74059084:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:74059084:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:74059084:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:74059084:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:74059084:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:74059084:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:74059084:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:74059084:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:74059084:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:74059084:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:74059084:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:74059084:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:74059084:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:74059084:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ALDH6A1 (Varview), BBOF1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
AAAAAAA=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.74059093_74059106del, NC_000014.9:g.74059095_74059106del, NC_000014.9:g.74059096_74059106del, NC_000014.9:g.74059099_74059106del, NC_000014.9:g.74059100_74059106del, NC_000014.9:g.74059101_74059106del, NC_000014.9:g.74059102_74059106del, NC_000014.9:g.74059103_74059106del, NC_000014.9:g.74059104_74059106del, NC_000014.9:g.74059105_74059106del, NC_000014.9:g.74059106del, NC_000014.9:g.74059106dup, NC_000014.9:g.74059105_74059106dup, NC_000014.9:g.74059104_74059106dup, NC_000014.9:g.74059103_74059106dup, NC_000014.9:g.74059102_74059106dup, NC_000014.9:g.74059101_74059106dup, NC_000014.9:g.74059100_74059106dup, NC_000014.9:g.74059099_74059106dup, NC_000014.9:g.74059098_74059106dup, NC_000014.9:g.74059095_74059106dup, NC_000014.9:g.74059106_74059107insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.74525796_74525809del, NC_000014.8:g.74525798_74525809del, NC_000014.8:g.74525799_74525809del, NC_000014.8:g.74525802_74525809del, NC_000014.8:g.74525803_74525809del, NC_000014.8:g.74525804_74525809del, NC_000014.8:g.74525805_74525809del, NC_000014.8:g.74525806_74525809del, NC_000014.8:g.74525807_74525809del, NC_000014.8:g.74525808_74525809del, NC_000014.8:g.74525809del, NC_000014.8:g.74525809dup, NC_000014.8:g.74525808_74525809dup, NC_000014.8:g.74525807_74525809dup, NC_000014.8:g.74525806_74525809dup, NC_000014.8:g.74525805_74525809dup, NC_000014.8:g.74525804_74525809dup, NC_000014.8:g.74525803_74525809dup, NC_000014.8:g.74525802_74525809dup, NC_000014.8:g.74525801_74525809dup, NC_000014.8:g.74525798_74525809dup, NC_000014.8:g.74525809_74525810insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_012257.2:g.30396_30409del, NG_012257.2:g.30398_30409del, NG_012257.2:g.30399_30409del, NG_012257.2:g.30402_30409del, NG_012257.2:g.30403_30409del, NG_012257.2:g.30404_30409del, NG_012257.2:g.30405_30409del, NG_012257.2:g.30406_30409del, NG_012257.2:g.30407_30409del, NG_012257.2:g.30408_30409del, NG_012257.2:g.30409del, NG_012257.2:g.30409dup, NG_012257.2:g.30408_30409dup, NG_012257.2:g.30407_30409dup, NG_012257.2:g.30406_30409dup, NG_012257.2:g.30405_30409dup, NG_012257.2:g.30404_30409dup, NG_012257.2:g.30403_30409dup, NG_012257.2:g.30402_30409dup, NG_012257.2:g.30401_30409dup, NG_012257.2:g.30398_30409dup, NG_012257.2:g.30409_30410insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_005589.4:c.*1544_*1557del, NM_005589.4:c.*1546_*1557del, NM_005589.4:c.*1547_*1557del, NM_005589.4:c.*1550_*1557del, NM_005589.4:c.*1551_*1557del, NM_005589.4:c.*1552_*1557del, NM_005589.4:c.*1553_*1557del, NM_005589.4:c.*1554_*1557del, NM_005589.4:c.*1555_*1557del, NM_005589.4:c.*1556_*1557del, NM_005589.4:c.*1557del, NM_005589.4:c.*1557dup, NM_005589.4:c.*1556_*1557dup, NM_005589.4:c.*1555_*1557dup, NM_005589.4:c.*1554_*1557dup, NM_005589.4:c.*1553_*1557dup, NM_005589.4:c.*1552_*1557dup, NM_005589.4:c.*1551_*1557dup, NM_005589.4:c.*1550_*1557dup, NM_005589.4:c.*1549_*1557dup, NM_005589.4:c.*1546_*1557dup, NM_005589.4:c.*1557_*1558insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_005589.3:c.*1544_*1557del, NM_005589.3:c.*1546_*1557del, NM_005589.3:c.*1547_*1557del, NM_005589.3:c.*1550_*1557del, NM_005589.3:c.*1551_*1557del, NM_005589.3:c.*1552_*1557del, NM_005589.3:c.*1553_*1557del, NM_005589.3:c.*1554_*1557del, NM_005589.3:c.*1555_*1557del, NM_005589.3:c.*1556_*1557del, NM_005589.3:c.*1557del, NM_005589.3:c.*1557dup, NM_005589.3:c.*1556_*1557dup, NM_005589.3:c.*1555_*1557dup, NM_005589.3:c.*1554_*1557dup, NM_005589.3:c.*1553_*1557dup, NM_005589.3:c.*1552_*1557dup, NM_005589.3:c.*1551_*1557dup, NM_005589.3:c.*1550_*1557dup, NM_005589.3:c.*1549_*1557dup, NM_005589.3:c.*1546_*1557dup, NM_005589.3:c.*1557_*1558insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001278594.2:c.*1544_*1557del, NM_001278594.2:c.*1546_*1557del, NM_001278594.2:c.*1547_*1557del, NM_001278594.2:c.*1550_*1557del, NM_001278594.2:c.*1551_*1557del, NM_001278594.2:c.*1552_*1557del, NM_001278594.2:c.*1553_*1557del, NM_001278594.2:c.*1554_*1557del, NM_001278594.2:c.*1555_*1557del, NM_001278594.2:c.*1556_*1557del, NM_001278594.2:c.*1557del, NM_001278594.2:c.*1557dup, NM_001278594.2:c.*1556_*1557dup, NM_001278594.2:c.*1555_*1557dup, NM_001278594.2:c.*1554_*1557dup, NM_001278594.2:c.*1553_*1557dup, NM_001278594.2:c.*1552_*1557dup, NM_001278594.2:c.*1551_*1557dup, NM_001278594.2:c.*1550_*1557dup, NM_001278594.2:c.*1549_*1557dup, NM_001278594.2:c.*1546_*1557dup, NM_001278594.2:c.*1557_*1558insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001278594.1:c.*1544_*1557del, NM_001278594.1:c.*1546_*1557del, NM_001278594.1:c.*1547_*1557del, NM_001278594.1:c.*1550_*1557del, NM_001278594.1:c.*1551_*1557del, NM_001278594.1:c.*1552_*1557del, NM_001278594.1:c.*1553_*1557del, NM_001278594.1:c.*1554_*1557del, NM_001278594.1:c.*1555_*1557del, NM_001278594.1:c.*1556_*1557del, NM_001278594.1:c.*1557del, NM_001278594.1:c.*1557dup, NM_001278594.1:c.*1556_*1557dup, NM_001278594.1:c.*1555_*1557dup, NM_001278594.1:c.*1554_*1557dup, NM_001278594.1:c.*1553_*1557dup, NM_001278594.1:c.*1552_*1557dup, NM_001278594.1:c.*1551_*1557dup, NM_001278594.1:c.*1550_*1557dup, NM_001278594.1:c.*1549_*1557dup, NM_001278594.1:c.*1546_*1557dup, NM_001278594.1:c.*1557_*1558insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001278593.2:c.*1544_*1557del, NM_001278593.2:c.*1546_*1557del, NM_001278593.2:c.*1547_*1557del, NM_001278593.2:c.*1550_*1557del, NM_001278593.2:c.*1551_*1557del, NM_001278593.2:c.*1552_*1557del, NM_001278593.2:c.*1553_*1557del, NM_001278593.2:c.*1554_*1557del, NM_001278593.2:c.*1555_*1557del, NM_001278593.2:c.*1556_*1557del, NM_001278593.2:c.*1557del, NM_001278593.2:c.*1557dup, NM_001278593.2:c.*1556_*1557dup, NM_001278593.2:c.*1555_*1557dup, NM_001278593.2:c.*1554_*1557dup, NM_001278593.2:c.*1553_*1557dup, NM_001278593.2:c.*1552_*1557dup, NM_001278593.2:c.*1551_*1557dup, NM_001278593.2:c.*1550_*1557dup, NM_001278593.2:c.*1549_*1557dup, NM_001278593.2:c.*1546_*1557dup, NM_001278593.2:c.*1557_*1558insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001278593.1:c.*1544_*1557del, NM_001278593.1:c.*1546_*1557del, NM_001278593.1:c.*1547_*1557del, NM_001278593.1:c.*1550_*1557del, NM_001278593.1:c.*1551_*1557del, NM_001278593.1:c.*1552_*1557del, NM_001278593.1:c.*1553_*1557del, NM_001278593.1:c.*1554_*1557del, NM_001278593.1:c.*1555_*1557del, NM_001278593.1:c.*1556_*1557del, NM_001278593.1:c.*1557del, NM_001278593.1:c.*1557dup, NM_001278593.1:c.*1556_*1557dup, NM_001278593.1:c.*1555_*1557dup, NM_001278593.1:c.*1554_*1557dup, NM_001278593.1:c.*1553_*1557dup, NM_001278593.1:c.*1552_*1557dup, NM_001278593.1:c.*1551_*1557dup, NM_001278593.1:c.*1550_*1557dup, NM_001278593.1:c.*1549_*1557dup, NM_001278593.1:c.*1546_*1557dup, NM_001278593.1:c.*1557_*1558insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_033060.1:g.44738_44751del, NG_033060.1:g.44740_44751del, NG_033060.1:g.44741_44751del, NG_033060.1:g.44744_44751del, NG_033060.1:g.44745_44751del, NG_033060.1:g.44746_44751del, NG_033060.1:g.44747_44751del, NG_033060.1:g.44748_44751del, NG_033060.1:g.44749_44751del, NG_033060.1:g.44750_44751del, NG_033060.1:g.44751del, NG_033060.1:g.44751dup, NG_033060.1:g.44750_44751dup, NG_033060.1:g.44749_44751dup, NG_033060.1:g.44748_44751dup, NG_033060.1:g.44747_44751dup, NG_033060.1:g.44746_44751dup, NG_033060.1:g.44745_44751dup, NG_033060.1:g.44744_44751dup, NG_033060.1:g.44743_44751dup, NG_033060.1:g.44740_44751dup, NG_033060.1:g.44751_44752insAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149124198315.

rs1491241983 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 14:74058597 (GRCh38)
14:74525301 (GRCh37)
Canonical SPDI:: NC_000014.9:74058597::C
Gene:: ALDH6A1 (Varview), BBOF1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.74058597_74058598insC, NC_000014.8:g.74525300_74525301insC, NG_012257.2:g.30896_30897insG, NM_005589.4:c.*2044_*2045insG, NM_005589.3:c.*2044_*2045insG, NM_001278594.2:c.*2044_*2045insG, NM_001278594.1:c.*2044_*2045insG, NM_001278593.2:c.*2044_*2045insG, NM_001278593.1:c.*2044_*2045insG, NG_033060.1:g.44242_44243insC

Select item 149119605316.

rs1491196053 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATT [Show Flanks]
Chromosome:: 14:74035585 (GRCh38)
14:74502289 (GRCh37)
Canonical SPDI:: NC_000014.9:74035585:TT:TTATT
Gene:: BBOF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTATT=0./0 (ALFA)
TTA=0.00006/2 (GnomAD)
HGVS:: NC_000014.9:g.74035587_74035588insATT, NC_000014.8:g.74502290_74502291insATT, NG_033060.1:g.21232_21233insATT

Select item 149117916017.

rs1491179160 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 14:74021925 (GRCh38)
14:74488629 (GRCh37)
Canonical SPDI:: NC_000014.9:74021925::C
Gene:: BBOF1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000083/22 (TOPMED)
C=0.000086/12 (GnomAD)
HGVS:: NC_000014.9:g.74021925_74021926insC, NC_000014.8:g.74488628_74488629insC, NG_033060.1:g.7570_7571insC, NG_056217.1:g.280_281insC

Select item 149115978918.

rs1491159789 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 14:74059084 (GRCh38)
14:74525787 (GRCh37)
Canonical SPDI:: NC_000014.9:74059083:CA:
Gene:: ALDH6A1 (Varview), BBOF1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.0002/9 (GnomAD)
HGVS:: NC_000014.9:g.74059084_74059085del, NC_000014.8:g.74525787_74525788del, NG_012257.2:g.30409_30410del, NM_005589.4:c.*1557_*1558del, NM_005589.3:c.*1557_*1558del, NM_001278594.2:c.*1557_*1558del, NM_001278594.1:c.*1557_*1558del, NM_001278593.2:c.*1557_*1558del, NM_001278593.1:c.*1557_*1558del, NG_033060.1:g.44729_44730del

Select item 149114139819.

rs1491141398 has merged into rs71115944 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAAA [Show Flanks]
Chromosome:: 14:74028513 (GRCh38)
14:74495216 (GRCh37)
Canonical SPDI:: NC_000014.9:74028511:AAA:A,NC_000014.9:74028511:AAA:AAAAA
Gene:: BBOF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00126/15 (ALFA)
-=0.01946/75 (ALSPAC)
-=0.02994/111 (TWINSUK)
HGVS:: NC_000014.9:g.74028513_74028514del, NC_000014.9:g.74028513_74028514dup, NC_000014.8:g.74495216_74495217del, NC_000014.8:g.74495216_74495217dup, NG_033060.1:g.14158_14159del, NG_033060.1:g.14158_14159dup

Select item 149113582920.

rs1491135829 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 14:74054678 (GRCh38)
14:74521381 (GRCh37)
Canonical SPDI:: NC_000014.9:74054675:CTCT:CT
Gene:: BBOF1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CTCT=0./0 (ALFA)
-=0.000008/1 (GnomAD)
HGVS:: NC_000014.9:g.74054676CT[1], NC_000014.8:g.74521379CT[1], NG_033060.1:g.40321CT[1]

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