SNP Links for Gene (Select 4126) - SNP

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Select item 14915212741.

rs1491521274 [Homo sapiens]

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

Select item 14914989052.

rs1491498905 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 4:102756797 (GRCh38)
4:103677954 (GRCh37)
Canonical SPDI:: NC_000004.12:102756796:TA:
Gene:: MANBA (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000004.12:g.102756797_102756798del, NC_000004.11:g.103677954_103677955del, NG_012804.2:g.9197_9198del

Select item 14914754633.

rs1491475463 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A [Show Flanks]
Chromosome:: 4:102709332 (GRCh38)
4:103630489 (GRCh37)
Canonical SPDI:: NC_000004.12:102709330:AAA:A,NC_000004.12:102709330:AAA:AA
Gene:: MANBA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000036/4 (GnomAD)
HGVS:: NC_000004.12:g.102709332_102709333del, NC_000004.12:g.102709333del, NC_000004.11:g.103630489_103630490del, NC_000004.11:g.103630490del, NG_012804.2:g.56663_56664del, NG_012804.2:g.56664del

Select item 14914372914.

rs1491437291 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 4:102653266 (GRCh38)
4:103574424 (GRCh37)
Canonical SPDI:: NC_000004.12:102653266::C
Gene:: MANBA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.000032/4 (GnomAD)
C=0.000546/1 (Korea1K)
HGVS:: NC_000004.12:g.102653266_102653267insC, NC_000004.11:g.103574423_103574424insC, NG_012804.2:g.112728_112729insG

Select item 14914002625.

rs1491400262 has merged into rs562110956 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:102722039 (GRCh38)
4:103643196 (GRCh37)
Canonical SPDI:: NC_000004.12:102722029:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000004.12:102722029:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:102722029:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:102722029:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:102722029:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:102722029:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:102722029:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:102722029:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:102722029:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102722029:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102722029:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102722029:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102722029:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102722029:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102722029:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102722029:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102722029:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102722029:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MANBA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000004.12:g.102722039_102722050del, NC_000004.12:g.102722040_102722050del, NC_000004.12:g.102722042_102722050del, NC_000004.12:g.102722046_102722050del, NC_000004.12:g.102722047_102722050del, NC_000004.12:g.102722048_102722050del, NC_000004.12:g.102722049_102722050del, NC_000004.12:g.102722050del, NC_000004.12:g.102722050dup, NC_000004.12:g.102722049_102722050dup, NC_000004.12:g.102722048_102722050dup, NC_000004.12:g.102722047_102722050dup, NC_000004.12:g.102722046_102722050dup, NC_000004.12:g.102722041_102722050dup, NC_000004.12:g.102722040_102722050dup, NC_000004.12:g.102722039_102722050dup, NC_000004.12:g.102722038_102722050dup, NC_000004.12:g.102722036_102722050dup, NC_000004.11:g.103643196_103643207del, NC_000004.11:g.103643197_103643207del, NC_000004.11:g.103643199_103643207del, NC_000004.11:g.103643203_103643207del, NC_000004.11:g.103643204_103643207del, NC_000004.11:g.103643205_103643207del, NC_000004.11:g.103643206_103643207del, NC_000004.11:g.103643207del, NC_000004.11:g.103643207dup, NC_000004.11:g.103643206_103643207dup, NC_000004.11:g.103643205_103643207dup, NC_000004.11:g.103643204_103643207dup, NC_000004.11:g.103643203_103643207dup, NC_000004.11:g.103643198_103643207dup, NC_000004.11:g.103643197_103643207dup, NC_000004.11:g.103643196_103643207dup, NC_000004.11:g.103643195_103643207dup, NC_000004.11:g.103643193_103643207dup, NG_012804.2:g.43954_43965del, NG_012804.2:g.43955_43965del, NG_012804.2:g.43957_43965del, NG_012804.2:g.43961_43965del, NG_012804.2:g.43962_43965del, NG_012804.2:g.43963_43965del, NG_012804.2:g.43964_43965del, NG_012804.2:g.43965del, NG_012804.2:g.43965dup, NG_012804.2:g.43964_43965dup, NG_012804.2:g.43963_43965dup, NG_012804.2:g.43962_43965dup, NG_012804.2:g.43961_43965dup, NG_012804.2:g.43956_43965dup, NG_012804.2:g.43955_43965dup, NG_012804.2:g.43954_43965dup, NG_012804.2:g.43953_43965dup, NG_012804.2:g.43951_43965dup

Select item 14913889746.

rs1491388974 has merged into rs869058731 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 4:102633776 (GRCh38)
4:103554933 (GRCh37)
Canonical SPDI:: NC_000004.12:102633775:TTTTTTTTTT:TTTTTTTTT,NC_000004.12:102633775:TTTTTTTTTT:TTTTTTTTTTT
Gene:: MANBA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.00022/2 (TOMMO)
-=0.00987/3 (NorthernSweden)
HGVS:: NC_000004.12:g.102633785del, NC_000004.12:g.102633785dup, NC_000004.11:g.103554942del, NC_000004.11:g.103554942dup, NG_012804.2:g.132219del, NG_012804.2:g.132219dup

Select item 14913205147.

rs1491320514 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 4:102712685 (GRCh38)
4:103633842 (GRCh37)
Canonical SPDI:: NC_000004.12:102712684:AT:
Gene:: MANBA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0./0 (ALSPAC)
-=0.00005/7 (GnomAD)
-=0.00006/16 (TOPMED)
-=0.00027/1 (TWINSUK)
HGVS:: NC_000004.12:g.102712685_102712686del, NC_000004.11:g.103633842_103633843del, NG_012804.2:g.53309_53310del

Select item 14912853718.

rs1491285371 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 4:102638473 (GRCh38)
4:103559630 (GRCh37)
Canonical SPDI:: NC_000004.12:102638471:TCT:T
Gene:: MANBA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.0189/70 (TWINSUK)
-=0.0189/73 (ALSPAC)
HGVS:: NC_000004.12:g.102638473_102638474del, NC_000004.11:g.103559630_103559631del, NG_012804.2:g.127522_127523del

Select item 14912605009.

rs1491260500 has merged into rs33991375 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 4:102759578 (GRCh38)
4:103680735 (GRCh37)
Canonical SPDI:: NC_000004.12:102759566:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:102759566:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:102759566:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:102759566:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:102759566:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:102759566:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:102759566:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: MANBA (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.4276/248 (NorthernSweden)
A=0.4367/2187 (1000Genomes)
A=0.475/19 (GENOME_DK)
HGVS:: NC_000004.12:g.102759578_102759582del, NC_000004.12:g.102759580_102759582del, NC_000004.12:g.102759581_102759582del, NC_000004.12:g.102759582del, NC_000004.12:g.102759582dup, NC_000004.12:g.102759581_102759582dup, NC_000004.12:g.102759580_102759582dup, NC_000004.11:g.103680735_103680739del, NC_000004.11:g.103680737_103680739del, NC_000004.11:g.103680738_103680739del, NC_000004.11:g.103680739del, NC_000004.11:g.103680739dup, NC_000004.11:g.103680738_103680739dup, NC_000004.11:g.103680737_103680739dup, NG_012804.2:g.6424_6428del, NG_012804.2:g.6426_6428del, NG_012804.2:g.6427_6428del, NG_012804.2:g.6428del, NG_012804.2:g.6428dup, NG_012804.2:g.6427_6428dup, NG_012804.2:g.6426_6428dup

Select item 149120243810.

rs1491202438 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:102722029 (GRCh38)
4:103643186 (GRCh37)
Canonical SPDI:: NC_000004.12:102722028:CA:
Gene:: MANBA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.01442/171 (ALFA)
-=0.00186/49 (TOMMO)
HGVS:: NC_000004.12:g.102722029_102722030del, NC_000004.11:g.103643186_103643187del, NG_012804.2:g.43965_43966del

Select item 149113125411.

rs1491131254 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 4:102631106 (GRCh38)
4:103552263 (GRCh37)
Canonical SPDI:: NC_000004.12:102631104:TTT:T
Gene:: MANBA (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.104263/1531 (ALFA)
-=0.068177/1140 (TOMMO)
-=0.088926/53 (NorthernSweden)
-=0.114471/14598 (GnomAD)
-=0.276358/1384 (1000Genomes)
HGVS:: NC_000004.12:g.102631106_102631107del, NC_000004.11:g.103552263_103552264del, NG_012804.2:g.134889_134890del, NM_005908.4:c.*951_*952del, XM_047415692.1:c.*951_*952del, XM_047415693.1:c.*951_*952del, XM_047415694.1:c.*951_*952del

Select item 149111216812.

rs1491112168 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 4:102653266 (GRCh38)
4:103574423 (GRCh37)
Canonical SPDI:: NC_000004.12:102653265:AA:
Gene:: MANBA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00049/8 (ALFA)
-=0.000546/1 (Korea1K)
-=0.001012/132 (GnomAD)
-=0.002159/36 (TOMMO)
HGVS:: NC_000004.12:g.102653266_102653267del, NC_000004.11:g.103574423_103574424del, NG_012804.2:g.112728_112729del

Select item 149111032213.

rs1491110322 has merged into rs35109830 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC [Show Flanks]
Chromosome:: 4:102760102 (GRCh38)
4:103681259 (GRCh37)
Canonical SPDI:: NC_000004.12:102760089:ACACACACACACACACACACAC:ACACACACACAC,NC_000004.12:102760089:ACACACACACACACACACACAC:ACACACACACACAC,NC_000004.12:102760089:ACACACACACACACACACACAC:ACACACACACACACAC,NC_000004.12:102760089:ACACACACACACACACACACAC:ACACACACACACACACAC,NC_000004.12:102760089:ACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000004.12:102760089:ACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000004.12:102760089:ACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000004.12:102760089:ACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000004.12:102760089:ACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000004.12:102760089:ACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC
Gene:: MANBA (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACAC=0./0 (ALFA)
ACAC=0.0156/78 (1000Genomes)
HGVS:: NC_000004.12:g.102760090AC[6], NC_000004.12:g.102760090AC[7], NC_000004.12:g.102760090AC[8], NC_000004.12:g.102760090AC[9], NC_000004.12:g.102760090AC[10], NC_000004.12:g.102760090AC[12], NC_000004.12:g.102760090AC[13], NC_000004.12:g.102760090AC[14], NC_000004.12:g.102760090AC[15], NC_000004.12:g.102760090AC[16], NC_000004.11:g.103681247AC[6], NC_000004.11:g.103681247AC[7], NC_000004.11:g.103681247AC[8], NC_000004.11:g.103681247AC[9], NC_000004.11:g.103681247AC[10], NC_000004.11:g.103681247AC[12], NC_000004.11:g.103681247AC[13], NC_000004.11:g.103681247AC[14], NC_000004.11:g.103681247AC[15], NC_000004.11:g.103681247AC[16], NG_012804.2:g.5884GT[6], NG_012804.2:g.5884GT[7], NG_012804.2:g.5884GT[8], NG_012804.2:g.5884GT[9], NG_012804.2:g.5884GT[10], NG_012804.2:g.5884GT[12], NG_012804.2:g.5884GT[13], NG_012804.2:g.5884GT[14], NG_012804.2:g.5884GT[15], NG_012804.2:g.5884GT[16]

Select item 149110906014.

rs1491109060 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:102662551 (GRCh38)
4:103583708 (GRCh37)
Canonical SPDI:: NC_000004.12:102662550:CA:
Gene:: MANBA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000004.12:g.102662551_102662552del, NC_000004.11:g.103583708_103583709del, NG_012804.2:g.103443_103444del, NG_011346.1:g.71_72del

Select item 149108002815.

rs1491080028 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 4:102754018 (GRCh38)
4:103675175 (GRCh37)
Canonical SPDI:: NC_000004.12:102754016:AGA:A
Gene:: MANBA (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.00025/3 (ALFA)
HGVS:: NC_000004.12:g.102754018_102754019del, NC_000004.11:g.103675175_103675176del, NG_012804.2:g.11977_11978del

Select item 149106499516.

rs1491064995 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAAG [Show Flanks]
Chromosome:: 4:102709327 (GRCh38)
4:103630485 (GRCh37)
Canonical SPDI:: NC_000004.12:102709327:AAG:AAGGAAG
Gene:: MANBA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAGGAAG=0.00034/4 (ALFA)
HGVS:: NC_000004.12:g.102709330_102709331insGAAG, NC_000004.11:g.103630487_103630488insGAAG, NG_012804.2:g.56667_56668insCCTT

Select item 149105879917.

rs1491058799 has merged into rs56345161 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:102716318 (GRCh38)
4:103637475 (GRCh37)
Canonical SPDI:: NC_000004.12:102716309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000004.12:102716309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:102716309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:102716309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:102716309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:102716309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:102716309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:102716309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:102716309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:102716309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:102716309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:102716309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102716309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102716309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102716309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102716309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102716309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102716309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102716309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102716309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102716309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102716309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102716309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102716309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102716309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102716309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MANBA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
HGVS:: NC_000004.12:g.102716318_102716335del, NC_000004.12:g.102716320_102716335del, NC_000004.12:g.102716322_102716335del, NC_000004.12:g.102716323_102716335del, NC_000004.12:g.102716324_102716335del, NC_000004.12:g.102716325_102716335del, NC_000004.12:g.102716326_102716335del, NC_000004.12:g.102716327_102716335del, NC_000004.12:g.102716328_102716335del, NC_000004.12:g.102716329_102716335del, NC_000004.12:g.102716330_102716335del, NC_000004.12:g.102716331_102716335del, NC_000004.12:g.102716332_102716335del, NC_000004.12:g.102716333_102716335del, NC_000004.12:g.102716334_102716335del, NC_000004.12:g.102716335del, NC_000004.12:g.102716335dup, NC_000004.12:g.102716334_102716335dup, NC_000004.12:g.102716333_102716335dup, NC_000004.12:g.102716332_102716335dup, NC_000004.12:g.102716331_102716335dup, NC_000004.12:g.102716330_102716335dup, NC_000004.12:g.102716329_102716335dup, NC_000004.12:g.102716328_102716335dup, NC_000004.12:g.102716320_102716335dup, NC_000004.12:g.102716335_102716336insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.103637475_103637492del, NC_000004.11:g.103637477_103637492del, NC_000004.11:g.103637479_103637492del, NC_000004.11:g.103637480_103637492del, NC_000004.11:g.103637481_103637492del, NC_000004.11:g.103637482_103637492del, NC_000004.11:g.103637483_103637492del, NC_000004.11:g.103637484_103637492del, NC_000004.11:g.103637485_103637492del, NC_000004.11:g.103637486_103637492del, NC_000004.11:g.103637487_103637492del, NC_000004.11:g.103637488_103637492del, NC_000004.11:g.103637489_103637492del, NC_000004.11:g.103637490_103637492del, NC_000004.11:g.103637491_103637492del, NC_000004.11:g.103637492del, NC_000004.11:g.103637492dup, NC_000004.11:g.103637491_103637492dup, NC_000004.11:g.103637490_103637492dup, NC_000004.11:g.103637489_103637492dup, NC_000004.11:g.103637488_103637492dup, NC_000004.11:g.103637487_103637492dup, NC_000004.11:g.103637486_103637492dup, NC_000004.11:g.103637485_103637492dup, NC_000004.11:g.103637477_103637492dup, NC_000004.11:g.103637492_103637493insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_012804.2:g.49668_49685del, NG_012804.2:g.49670_49685del, NG_012804.2:g.49672_49685del, NG_012804.2:g.49673_49685del, NG_012804.2:g.49674_49685del, NG_012804.2:g.49675_49685del, NG_012804.2:g.49676_49685del, NG_012804.2:g.49677_49685del, NG_012804.2:g.49678_49685del, NG_012804.2:g.49679_49685del, NG_012804.2:g.49680_49685del, NG_012804.2:g.49681_49685del, NG_012804.2:g.49682_49685del, NG_012804.2:g.49683_49685del, NG_012804.2:g.49684_49685del, NG_012804.2:g.49685del, NG_012804.2:g.49685dup, NG_012804.2:g.49684_49685dup, NG_012804.2:g.49683_49685dup, NG_012804.2:g.49682_49685dup, NG_012804.2:g.49681_49685dup, NG_012804.2:g.49680_49685dup, NG_012804.2:g.49679_49685dup, NG_012804.2:g.49678_49685dup, NG_012804.2:g.49670_49685dup, NG_012804.2:g.49685_49686insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149105079718.

rs1491050797 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 4:102722053 (GRCh38)
4:103643210 (GRCh37)
Canonical SPDI:: NC_000004.12:102722049:AGAGA:AGA
Gene:: MANBA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGA=0./0 (ALFA)
HGVS:: NC_000004.12:g.102722051GA[1], NC_000004.11:g.103643208GA[1], NG_012804.2:g.43942CT[1]

Select item 149099517219.

rs1490995172 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:102658580 (GRCh38)
4:103579737 (GRCh37)
Canonical SPDI:: NC_000004.12:102658579:A:G
Gene:: MANBA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.102658580A>G, NC_000004.11:g.103579737A>G, NG_012804.2:g.107415T>C

Select item 149098627220.

rs1490986272 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:102714181 (GRCh38)
4:103635338 (GRCh37)
Canonical SPDI:: NC_000004.12:102714180:G:A
Gene:: MANBA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.102714181G>A, NC_000004.11:g.103635338G>A, NG_012804.2:g.51814C>T

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