SNP Links for Gene (Select 116496) - SNP

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Select item 14915865831.

rs1491586583 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:184930998 (GRCh38)
1:184900131 (GRCh37)
Canonical SPDI:: NC_000001.11:184930998::C
Gene:: NIBAN1 (Varview), LOC124904469 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.245911/2917 (ALFA)
C=0.319199/5135 (TOMMO)
C=0.413546/42046 (GnomAD)
HGVS:: NC_000001.11:g.184930998_184930999insC, NC_000001.10:g.184900130_184900131insC, NG_051588.1:g.48588_48589insG, XR_007066770.1:n.12652_12653insG

Select item 14915504182.

rs1491550418 has merged into rs371040471 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 1:184936035 (GRCh38)
1:184905167 (GRCh37)
Canonical SPDI:: NC_000001.11:184936021:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:184936021:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:184936021:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:184936021:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:184936021:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:184936021:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: NIBAN1 (Varview), LOC124904469 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.184936035_184936036del, NC_000001.11:g.184936036del, NC_000001.11:g.184936036dup, NC_000001.11:g.184936035_184936036dup, NC_000001.11:g.184936034_184936036dup, NC_000001.11:g.184936033_184936036dup, NC_000001.10:g.184905167_184905168del, NC_000001.10:g.184905168del, NC_000001.10:g.184905168dup, NC_000001.10:g.184905167_184905168dup, NC_000001.10:g.184905166_184905168dup, NC_000001.10:g.184905165_184905168dup, NG_051588.1:g.43564_43565del, NG_051588.1:g.43565del, NG_051588.1:g.43565dup, NG_051588.1:g.43564_43565dup, NG_051588.1:g.43563_43565dup, NG_051588.1:g.43562_43565dup, XR_007066770.1:n.7628_7629del, XR_007066770.1:n.7629del, XR_007066770.1:n.7629dup, XR_007066770.1:n.7628_7629dup, XR_007066770.1:n.7627_7629dup, XR_007066770.1:n.7626_7629dup

Select item 14914753083.

rs1491475308 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 1:184917369 (GRCh38)
1:184886503 (GRCh37)
Canonical SPDI:: NC_000001.11:184917369::G
Gene:: NIBAN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.184917369_184917370insG, NC_000001.10:g.184886502_184886503insG, NG_051588.1:g.62217_62218insC

Select item 14914522864.

rs1491452286 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:184828809 (GRCh38)
1:184797943 (GRCh37)
Canonical SPDI:: NC_000001.11:184828808:AT:
Gene:: NIBAN1 (Varview), LOC107985238 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00007/1 (ALFA)
-=0.00002/2 (GnomAD)
-=0.00078/5 (1000Genomes)
HGVS:: NC_000001.11:g.184828809_184828810del, NC_000001.10:g.184797943_184797944del, NG_051588.1:g.150777_150778del

Select item 14914332775.

rs1491433277 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:184853749 (GRCh38)
1:184822883 (GRCh37)
Canonical SPDI:: NC_000001.11:184853748:AT:
Gene:: NIBAN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000054/1 (ALFA)
-=0./0 (TWINSUK)
-=0.000093/13 (GnomAD)
-=0.000144/38 (TOPMED)
-=0.000259/1 (ALSPAC)
HGVS:: NC_000001.11:g.184853749_184853750del, NC_000001.10:g.184822883_184822884del, NG_051588.1:g.125837_125838del

Select item 14914185386.

rs1491418538 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 1:184955362 (GRCh38)
1:184924494 (GRCh37)
Canonical SPDI:: NC_000001.11:184955360:TCT:T
Gene:: NIBAN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00008/1 (ALFA)
HGVS:: NC_000001.11:g.184955362_184955363del, NC_000001.10:g.184924494_184924495del, NG_051588.1:g.24225_24226del

Select item 14914151637.

rs1491415163 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 1:184930997 (GRCh38)
1:184900129 (GRCh37)
Canonical SPDI:: NC_000001.11:184930995:TCT:T
Gene:: NIBAN1 (Varview), LOC124904469 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by cluster
HGVS:: NC_000001.11:g.184930997_184930998del, NC_000001.10:g.184900129_184900130del, NG_051588.1:g.48590_48591del, XR_007066770.1:n.12654_12655del

Select item 14914041348.

rs1491404134 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CG [Show Flanks]
Chromosome:: 1:184839546 (GRCh38)
1:184808681 (GRCh37)
Canonical SPDI:: NC_000001.11:184839546:G:GCG
Gene:: NIBAN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GCG=0./0 (ALFA)
GC=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.184839547_184839548insCG, NC_000001.10:g.184808681_184808682insCG, NG_051588.1:g.140040_140041insGC

Select item 14913747759.

rs1491374775 has merged into rs59270543 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 1:184921144 (GRCh38)
1:184890277 (GRCh37)
Canonical SPDI:: NC_000001.11:184921128:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:184921128:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:184921128:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:184921128:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:184921128:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:184921128:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:184921128:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:184921128:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:184921128:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: NIBAN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.425/17 (GENOME_DK)
HGVS:: NC_000001.11:g.184921144_184921147del, NC_000001.11:g.184921145_184921147del, NC_000001.11:g.184921146_184921147del, NC_000001.11:g.184921147del, NC_000001.11:g.184921147dup, NC_000001.11:g.184921146_184921147dup, NC_000001.11:g.184921145_184921147dup, NC_000001.11:g.184921143_184921147dup, NC_000001.11:g.184921141_184921147dup, NC_000001.10:g.184890277_184890280del, NC_000001.10:g.184890278_184890280del, NC_000001.10:g.184890279_184890280del, NC_000001.10:g.184890280del, NC_000001.10:g.184890280dup, NC_000001.10:g.184890279_184890280dup, NC_000001.10:g.184890278_184890280dup, NC_000001.10:g.184890276_184890280dup, NC_000001.10:g.184890274_184890280dup, NG_051588.1:g.58455_58458del, NG_051588.1:g.58456_58458del, NG_051588.1:g.58457_58458del, NG_051588.1:g.58458del, NG_051588.1:g.58458dup, NG_051588.1:g.58457_58458dup, NG_051588.1:g.58456_58458dup, NG_051588.1:g.58454_58458dup, NG_051588.1:g.58452_58458dup

Select item 149136835410.

rs1491368354 has merged into rs35550596 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 1:184911078 (GRCh38)
1:184880211 (GRCh37)
Canonical SPDI:: NC_000001.11:184911062:ACACACACACACACACACACACACACACA:ACACACACACACACA,NC_000001.11:184911062:ACACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000001.11:184911062:ACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000001.11:184911062:ACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000001.11:184911062:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000001.11:184911062:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000001.11:184911062:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000001.11:184911062:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000001.11:184911062:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000001.11:184911062:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000001.11:184911062:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000001.11:184911062:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000001.11:184911062:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:184911062:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA
Gene:: NIBAN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACA=0./0 (ALFA)
AC=0.1/4 (GENOME_DK)
HGVS:: NC_000001.11:g.184911064CA[7], NC_000001.11:g.184911064CA[8], NC_000001.11:g.184911064CA[9], NC_000001.11:g.184911064CA[10], NC_000001.11:g.184911064CA[11], NC_000001.11:g.184911064CA[12], NC_000001.11:g.184911064CA[13], NC_000001.11:g.184911064CA[15], NC_000001.11:g.184911064CA[16], NC_000001.11:g.184911064CA[17], NC_000001.11:g.184911064CA[18], NC_000001.11:g.184911064CA[19], NC_000001.11:g.184911064CA[20], NC_000001.11:g.184911064CA[21], NC_000001.10:g.184880197CA[7], NC_000001.10:g.184880197CA[8], NC_000001.10:g.184880197CA[9], NC_000001.10:g.184880197CA[10], NC_000001.10:g.184880197CA[11], NC_000001.10:g.184880197CA[12], NC_000001.10:g.184880197CA[13], NC_000001.10:g.184880197CA[15], NC_000001.10:g.184880197CA[16], NC_000001.10:g.184880197CA[17], NC_000001.10:g.184880197CA[18], NC_000001.10:g.184880197CA[19], NC_000001.10:g.184880197CA[20], NC_000001.10:g.184880197CA[21], NG_051588.1:g.68497GT[7], NG_051588.1:g.68497GT[8], NG_051588.1:g.68497GT[9], NG_051588.1:g.68497GT[10], NG_051588.1:g.68497GT[11], NG_051588.1:g.68497GT[12], NG_051588.1:g.68497GT[13], NG_051588.1:g.68497GT[15], NG_051588.1:g.68497GT[16], NG_051588.1:g.68497GT[17], NG_051588.1:g.68497GT[18], NG_051588.1:g.68497GT[19], NG_051588.1:g.68497GT[20], NG_051588.1:g.68497GT[21]

Select item 149134749811.

rs1491347498 has merged into rs375874645 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACA>-,CA,CACACA,CACACACA,CACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA [Show Flanks]
Chromosome:: 1:184881116 (GRCh38)
1:184850250 (GRCh37)
Canonical SPDI:: NC_000001.11:184881101:CACACACACACACACACACACACACA:CACACACACACACA,NC_000001.11:184881101:CACACACACACACACACACACACACA:CACACACACACACACA,NC_000001.11:184881101:CACACACACACACACACACACACACA:CACACACACACACACACACA,NC_000001.11:184881101:CACACACACACACACACACACACACA:CACACACACACACACACACACA,NC_000001.11:184881101:CACACACACACACACACACACACACA:CACACACACACACACACACACACA,NC_000001.11:184881101:CACACACACACACACACACACACACA:CACACACACACACACACACACACACACA,NC_000001.11:184881101:CACACACACACACACACACACACACA:CACACACACACACACACACACACACACACA,NC_000001.11:184881101:CACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACA,NC_000001.11:184881101:CACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA
Gene:: NIBAN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACACACACACA=0./0 (ALFA)
-=0.000015/4 (TOPMED)
CA=0.111111/24 (Vietnamese)
CA=0.14976/750 (1000Genomes)
HGVS:: NC_000001.11:g.184881102CA[7], NC_000001.11:g.184881102CA[8], NC_000001.11:g.184881102CA[10], NC_000001.11:g.184881102CA[11], NC_000001.11:g.184881102CA[12], NC_000001.11:g.184881102CA[14], NC_000001.11:g.184881102CA[15], NC_000001.11:g.184881102CA[16], NC_000001.11:g.184881102CA[17], NC_000001.10:g.184850236CA[7], NC_000001.10:g.184850236CA[8], NC_000001.10:g.184850236CA[10], NC_000001.10:g.184850236CA[11], NC_000001.10:g.184850236CA[12], NC_000001.10:g.184850236CA[14], NC_000001.10:g.184850236CA[15], NC_000001.10:g.184850236CA[16], NC_000001.10:g.184850236CA[17], NG_051588.1:g.98460TG[7], NG_051588.1:g.98460TG[8], NG_051588.1:g.98460TG[10], NG_051588.1:g.98460TG[11], NG_051588.1:g.98460TG[12], NG_051588.1:g.98460TG[14], NG_051588.1:g.98460TG[15], NG_051588.1:g.98460TG[16], NG_051588.1:g.98460TG[17]

Select item 149131205412.

rs1491312054 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 1:184913137 (GRCh38)
1:184882270 (GRCh37)
Canonical SPDI:: NC_000001.11:184913136:GT:
Gene:: NIBAN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.184913137_184913138del, NC_000001.10:g.184882270_184882271del, NG_051588.1:g.66449_66450del

Select item 149130643413.

rs1491306434 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 1:184829484 (GRCh38)
1:184798618 (GRCh37)
Canonical SPDI:: NC_000001.11:184829483:TG:
Gene:: NIBAN1 (Varview), LOC107985238 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.184829484_184829485del, NC_000001.10:g.184798618_184798619del, NG_051588.1:g.150102_150103del

Select item 149128938314.

rs1491289383 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 1:184913154 (GRCh38)
1:184882287 (GRCh37)
Canonical SPDI:: NC_000001.11:184913153:TT:
Gene:: NIBAN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.184913154_184913155del, NC_000001.10:g.184882287_184882288del, NG_051588.1:g.66432_66433del

Select item 149128095815.

rs1491280958 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:184921128 (GRCh38)
1:184890261 (GRCh37)
Canonical SPDI:: NC_000001.11:184921127:CA:
Gene:: NIBAN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.184921128_184921129del, NC_000001.10:g.184890261_184890262del, NG_051588.1:g.58458_58459del

Select item 149124480616.

rs1491244806 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 1:184936022 (GRCh38)
1:184905155 (GRCh37)
Canonical SPDI:: NC_000001.11:184936022::G
Gene:: NIBAN1 (Varview), LOC124904469 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.00008/1 (ALFA)
G=0.00001/1 (GnomAD)
HGVS:: NC_000001.11:g.184936022_184936023insG, NC_000001.10:g.184905154_184905155insG, NG_051588.1:g.43564_43565insC, XR_007066770.1:n.7628_7629insC

Select item 149122472017.

rs1491224720 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:184864988 (GRCh38)
1:184834122 (GRCh37)
Canonical SPDI:: NC_000001.11:184864987:CA:
Gene:: NIBAN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.184864988_184864989del, NC_000001.10:g.184834122_184834123del, NG_051588.1:g.114598_114599del

Select item 149121310218.

rs1491213102 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 1:184829484 (GRCh38)
1:184798619 (GRCh37)
Canonical SPDI:: NC_000001.11:184829484:G:GG
Gene:: NIBAN1 (Varview), LOC107985238 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.184829485dup, NC_000001.10:g.184798619dup, NG_051588.1:g.150102dup

Select item 149120776219.

rs1491207762 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 1:184818653 (GRCh38)
1:184787787 (GRCh37)
Canonical SPDI:: NC_000001.11:184818650:ACAC:AC
Gene:: NIBAN1 (Varview), LOC107985238 (Varview)
Functional Consequence:: frameshift_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: -=0.000004/1 (GnomAD_exomes)
-=0.000009/1 (ExAC)
HGVS:: NC_000001.11:g.184818651AC[1], NC_000001.10:g.184787785AC[1], NG_051588.1:g.160933GT[1], NM_052966.4:c.1159_1160del, NM_052966.3:c.1159_1160del, XM_047444094.1:c.1336_1337del, XM_047444091.1:c.1231_1232del, XM_047444093.1:c.1336_1337del, XM_047444098.1:c.1054_1055del, XM_047444102.1:c.1159_1160del, NM_022083.1:c.553_554del, NP_443198.1:p.Val387fs, XP_047300050.1:p.Val446fs, XP_047300047.1:p.Val411fs, XP_047300049.1:p.Val446fs, XP_047300054.1:p.Val352fs, XP_047300058.1:p.Val387fs

Select item 149120125520.

rs1491201255 has merged into rs1168037153 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:184917381 (GRCh38)
1:184886514 (GRCh37)
Canonical SPDI:: NC_000001.11:184917368:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:184917368:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:184917368:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:184917368:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:184917368:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:184917368:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:184917368:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:184917368:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:184917368:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:184917368:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:184917368:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:184917368:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:184917368:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:184917368:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:184917368:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NIBAN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.184917381_184917393del, NC_000001.11:g.184917382_184917393del, NC_000001.11:g.184917389_184917393del, NC_000001.11:g.184917390_184917393del, NC_000001.11:g.184917391_184917393del, NC_000001.11:g.184917392_184917393del, NC_000001.11:g.184917393del, NC_000001.11:g.184917393dup, NC_000001.11:g.184917392_184917393dup, NC_000001.11:g.184917391_184917393dup, NC_000001.11:g.184917390_184917393dup, NC_000001.11:g.184917389_184917393dup, NC_000001.11:g.184917388_184917393dup, NC_000001.11:g.184917387_184917393dup, NC_000001.11:g.184917386_184917393dup, NC_000001.10:g.184886514_184886526del, NC_000001.10:g.184886515_184886526del, NC_000001.10:g.184886522_184886526del, NC_000001.10:g.184886523_184886526del, NC_000001.10:g.184886524_184886526del, NC_000001.10:g.184886525_184886526del, NC_000001.10:g.184886526del, NC_000001.10:g.184886526dup, NC_000001.10:g.184886525_184886526dup, NC_000001.10:g.184886524_184886526dup, NC_000001.10:g.184886523_184886526dup, NC_000001.10:g.184886522_184886526dup, NC_000001.10:g.184886521_184886526dup, NC_000001.10:g.184886520_184886526dup, NC_000001.10:g.184886519_184886526dup, NG_051588.1:g.62206_62218del, NG_051588.1:g.62207_62218del, NG_051588.1:g.62214_62218del, NG_051588.1:g.62215_62218del, NG_051588.1:g.62216_62218del, NG_051588.1:g.62217_62218del, NG_051588.1:g.62218del, NG_051588.1:g.62218dup, NG_051588.1:g.62217_62218dup, NG_051588.1:g.62216_62218dup, NG_051588.1:g.62215_62218dup, NG_051588.1:g.62214_62218dup, NG_051588.1:g.62213_62218dup, NG_051588.1:g.62212_62218dup, NG_051588.1:g.62211_62218dup

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