SNP Links for Gene (Select 25981) - SNP

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Select item 14915243521.

rs1491524352 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 3:52391532 (GRCh38)
3:52425548 (GRCh37)
Canonical SPDI:: NC_000003.12:52391531:GC:
Gene:: DNAH1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00119/16 (ALFA)
-=0.00007/2 (TOMMO)
HGVS:: NC_000003.12:g.52391532_52391533del, NC_000003.11:g.52425548_52425549del, NG_052911.1:g.80214_80215del, NM_015512.5:c.9981_9982del, NM_015512.4:c.9981_9982del, XM_017006129.2:c.10050_10051del, XM_017006129.1:c.10050_10051del, XM_017006130.2:c.9981_9982del, XM_017006130.1:c.9981_9982del, XM_017006131.2:c.9924_9925del, XM_017006131.1:c.9924_9925del, NP_056327.4:p.Lys3327fs, XP_016861618.1:p.Lys3350fs, XP_016861619.1:p.Lys3327fs, XP_016861620.1:p.Lys3308fs

Select item 14914744982.

rs1491474498 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GG [Show Flanks]
Chromosome:: 3:52321877 (GRCh38)
3:52355894 (GRCh37)
Canonical SPDI:: NC_000003.12:52321877:GGGG:GGGGGG
Gene:: DNAH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGG=0./0 (ALFA)
GG=0.000036/5 (GnomAD)
GG=0.000038/10 (TOPMED)
HGVS:: NC_000003.12:g.52321880_52321881dup, NC_000003.11:g.52355896_52355897dup, NG_052911.1:g.10562_10563dup

Select item 14912985853.

rs1491298585 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTTTTTA [Show Flanks]
Chromosome:: 3:52391532 (GRCh38)
3:52425549 (GRCh37)
Canonical SPDI:: NC_000003.12:52391532::TTTTTTA
Gene:: DNAH1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by cluster
MAF:: TTTTTTA=0.0044/8 (Korea1K)
HGVS:: NC_000003.12:g.52391532_52391533insTTTTTTA, NC_000003.11:g.52425548_52425549insTTTTTTA, NG_052911.1:g.80214_80215insTTTTTTA, NM_015512.5:c.9981_9982insTTTTTTA, NM_015512.4:c.9981_9982insTTTTTTA, XM_017006129.2:c.10050_10051insTTTTTTA, XM_017006129.1:c.10050_10051insTTTTTTA, XM_017006130.2:c.9981_9982insTTTTTTA, XM_017006130.1:c.9981_9982insTTTTTTA, XM_017006131.2:c.9924_9925insTTTTTTA, XM_017006131.1:c.9924_9925insTTTTTTA, NP_056327.4:p.Leu3328fs, XP_016861618.1:p.Leu3351fs, XP_016861619.1:p.Leu3328fs, XP_016861620.1:p.Leu3309fs

Select item 14912924014.

rs1491292401 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 3:52315434 (GRCh38)
3:52349451 (GRCh37)
Canonical SPDI:: NC_000003.12:52315434:GGGG:GGGGG
Gene:: DNAH1 (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.52315438dup, NC_000003.11:g.52349454dup, NG_052911.1:g.4120dup, XM_017006129.2:c.-722dup, XM_017006129.1:c.-722dup, XM_017006130.2:c.-722dup, XM_017006130.1:c.-722dup, XM_017006131.2:c.-722dup, XM_017006131.1:c.-722dup

Select item 14912026885.

rs1491202688 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 3:52394357 (GRCh38)
3:52428374 (GRCh37)
Canonical SPDI:: NC_000003.12:52394357:A:AA
Gene:: DNAH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000026/7 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000003.12:g.52394358dup, NC_000003.11:g.52428374dup, NG_052911.1:g.83040dup

Select item 14910390556.

rs1491039055 has merged into rs551410758 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 3:52354647 (GRCh38)
3:52388663 (GRCh37)
Canonical SPDI:: NC_000003.12:52354634:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:52354634:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:52354634:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:52354634:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:52354634:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:52354634:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: DNAH1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
A=0.03253/19 (NorthernSweden)
A=0.45/18 (GENOME_DK)
HGVS:: NC_000003.12:g.52354647_52354650del, NC_000003.12:g.52354649_52354650del, NC_000003.12:g.52354650del, NC_000003.12:g.52354650dup, NC_000003.12:g.52354649_52354650dup, NC_000003.12:g.52354648_52354650dup, NC_000003.11:g.52388663_52388666del, NC_000003.11:g.52388665_52388666del, NC_000003.11:g.52388666del, NC_000003.11:g.52388666dup, NC_000003.11:g.52388665_52388666dup, NC_000003.11:g.52388664_52388666dup, NG_052911.1:g.43329_43332del, NG_052911.1:g.43331_43332del, NG_052911.1:g.43332del, NG_052911.1:g.43332dup, NG_052911.1:g.43331_43332dup, NG_052911.1:g.43330_43332dup

Select item 14909769337.

rs1490976933 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:52346929 (GRCh38)
3:52380945 (GRCh37)
Canonical SPDI:: NC_000003.12:52346928:G:A
Gene:: DNAH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
HGVS:: NC_000003.12:g.52346929G>A, NC_000003.11:g.52380945G>A, NG_052911.1:g.35611G>A

Select item 14908259018.

rs1490825901 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:52324598 (GRCh38)
3:52358614 (GRCh37)
Canonical SPDI:: NC_000003.12:52324597:T:G
Gene:: DNAH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.52324598T>G, NC_000003.11:g.52358614T>G, NG_052911.1:g.13280T>G

Select item 14908145129.

rs1490814512 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:52394745 (GRCh38)
3:52428761 (GRCh37)
Canonical SPDI:: NC_000003.12:52394744:A:G
Gene:: DNAH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.00003/8 (TOPMED)
HGVS:: NC_000003.12:g.52394745A>G, NC_000003.11:g.52428761A>G, NG_052911.1:g.83427A>G

Select item 149079697810.

rs1490796978 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:52391989 (GRCh38)
3:52426005 (GRCh37)
Canonical SPDI:: NC_000003.12:52391988:C:G
Gene:: DNAH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.52391989C>G, NC_000003.11:g.52426005C>G, NG_052911.1:g.80671C>G

Select item 149078130311.

rs1490781303 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:52340551 (GRCh38)
3:52374567 (GRCh37)
Canonical SPDI:: NC_000003.12:52340550:C:T
Gene:: DNAH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.52340551C>T, NC_000003.11:g.52374567C>T, NG_052911.1:g.29233C>T

Select item 149075999312.

rs1490759993 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 3:52325667 (GRCh38)
3:52359683 (GRCh37)
Canonical SPDI:: NC_000003.12:52325666:T:C,NC_000003.12:52325666:T:G
Gene:: DNAH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
G=0.004913/9 (Korea1K)
HGVS:: NC_000003.12:g.52325667T>C, NC_000003.12:g.52325667T>G, NC_000003.11:g.52359683T>C, NC_000003.11:g.52359683T>G, NG_052911.1:g.14349T>C, NG_052911.1:g.14349T>G

Select item 149074351413.

rs1490743514 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:52347868 (GRCh38)
3:52381884 (GRCh37)
Canonical SPDI:: NC_000003.12:52347867:G:A
Gene:: DNAH1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.52347868G>A, NC_000003.11:g.52381884G>A, NG_052911.1:g.36550G>A, NM_015512.5:c.2000G>A, NM_015512.4:c.2000G>A, XM_017006129.2:c.2000G>A, XM_017006129.1:c.2000G>A, XM_017006130.2:c.2000G>A, XM_017006130.1:c.2000G>A, XM_017006131.2:c.2000G>A, XM_017006131.1:c.2000G>A, NP_056327.4:p.Ser667Asn, XP_016861618.1:p.Ser667Asn, XP_016861619.1:p.Ser667Asn, XP_016861620.1:p.Ser667Asn

Select item 149069052214.

rs1490690522 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAG>- [Show Flanks]
Chromosome:: 3:52341405 (GRCh38)
3:52375421 (GRCh37)
Canonical SPDI:: NC_000003.12:52341399:AGAAGAAG:AGAAG
Gene:: DNAH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAAG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.52341402AAG[1], NC_000003.11:g.52375418AAG[1], NG_052911.1:g.30084AAG[1]

Select item 149067458715.

rs1490674587 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:52393261 (GRCh38)
3:52427277 (GRCh37)
Canonical SPDI:: NC_000003.12:52393260:T:A
Gene:: DNAH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000049/13 (TOPMED)
HGVS:: NC_000003.12:g.52393261T>A, NC_000003.11:g.52427277T>A, NG_052911.1:g.81943T>A

Select item 149064272216.

rs1490642722 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:52384898 (GRCh38)
3:52418914 (GRCh37)
Canonical SPDI:: NC_000003.12:52384897:A:G
Gene:: DNAH1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
G=0.000004/1 (TOPMED)
G=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000003.12:g.52384898A>G, NC_000003.11:g.52418914A>G, NG_052911.1:g.73580A>G, NM_015512.5:c.8435A>G, NM_015512.4:c.8435A>G, XM_017006129.2:c.8504A>G, XM_017006129.1:c.8504A>G, XM_017006130.2:c.8435A>G, XM_017006130.1:c.8435A>G, XM_017006131.2:c.8504A>G, XM_017006131.1:c.8504A>G, NP_056327.4:p.His2812Arg, XP_016861618.1:p.His2835Arg, XP_016861619.1:p.His2812Arg, XP_016861620.1:p.His2835Arg

Select item 149062521717.

rs1490625217 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:52338951 (GRCh38)
3:52372967 (GRCh37)
Canonical SPDI:: NC_000003.12:52338950:T:C
Gene:: DNAH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.52338951T>C, NC_000003.11:g.52372967T>C, NG_052911.1:g.27633T>C

Select item 149058688618.

rs1490586886 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:52374288 (GRCh38)
3:52408304 (GRCh37)
Canonical SPDI:: NC_000003.12:52374287:A:G
Gene:: DNAH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.52374288A>G, NC_000003.11:g.52408304A>G, NG_001307.4:g.737A>G, NG_052911.1:g.62970A>G

Select item 149048302219.

rs1490483022 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:52371078 (GRCh38)
3:52405094 (GRCh37)
Canonical SPDI:: NC_000003.12:52371077:T:C
Gene:: DNAH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.52371078T>C, NC_000003.11:g.52405094T>C, NG_052911.1:g.59760T>C

Select item 149045439120.

rs1490454391 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:52316347 (GRCh38)
3:52350363 (GRCh37)
Canonical SPDI:: NC_000003.12:52316346:A:G
Gene:: DNAH1 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.52316347A>G, NC_000003.11:g.52350363A>G, NG_052911.1:g.5029A>G, NM_015512.5:c.-233A>G, NM_015512.4:c.-233A>G

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