SNP Links for Gene (Select 6927) - SNP

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Select item 14913556981.

rs1491355698 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 12:120987585 (GRCh38)
12:121425388 (GRCh37)
Canonical SPDI:: NC_000012.12:120987584:TA:
Gene:: HNF1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000012.12:g.120987585_120987586del, NC_000012.11:g.121425388_121425389del, NG_011731.2:g.13840_13841del

Select item 14911572882.

rs1491157288 has merged into rs576184412 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATA>-,TA,TATA,TATATATA,TATATATATA,TATATATATATA [Show Flanks]
Chromosome:: 12:120987603 (GRCh38)
12:121425406 (GRCh37)
Canonical SPDI:: NC_000012.12:120987589:ATATATATATATATATATA:ATATATATATATA,NC_000012.12:120987589:ATATATATATATATATATA:ATATATATATATATA,NC_000012.12:120987589:ATATATATATATATATATA:ATATATATATATATATA,NC_000012.12:120987589:ATATATATATATATATATA:ATATATATATATATATATATA,NC_000012.12:120987589:ATATATATATATATATATA:ATATATATATATATATATATATA,NC_000012.12:120987589:ATATATATATATATATATA:ATATATATATATATATATATATATA
Gene:: HNF1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATATA=0./0 (ALFA)
AT=0.0096/48 (1000Genomes)
-=0.025/1 (GENOME_DK)
-=0.0371/143 (ALSPAC)
HGVS:: NC_000012.12:g.120987591TA[6], NC_000012.12:g.120987591TA[7], NC_000012.12:g.120987591TA[8], NC_000012.12:g.120987591TA[10], NC_000012.12:g.120987591TA[11], NC_000012.12:g.120987591TA[12], NC_000012.11:g.121425394TA[6], NC_000012.11:g.121425394TA[7], NC_000012.11:g.121425394TA[8], NC_000012.11:g.121425394TA[10], NC_000012.11:g.121425394TA[11], NC_000012.11:g.121425394TA[12], NG_011731.2:g.13846TA[6], NG_011731.2:g.13846TA[7], NG_011731.2:g.13846TA[8], NG_011731.2:g.13846TA[10], NG_011731.2:g.13846TA[11], NG_011731.2:g.13846TA[12]

Select item 14908981553.

rs1490898155 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:120996178 (GRCh38)
12:121433981 (GRCh37)
Canonical SPDI:: NC_000012.12:120996177:T:A
Gene:: HNF1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.120996178T>A, NC_000012.11:g.121433981T>A, NG_011731.2:g.22433T>A

Select item 14908665954.

rs1490866595 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:120996411 (GRCh38)
12:121434214 (GRCh37)
Canonical SPDI:: NC_000012.12:120996410:C:G
Gene:: HNF1A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.120996411C>G, NC_000012.11:g.121434214C>G, NG_011731.2:g.22666C>G, NM_000545.8:c.1105C>G, NM_000545.7:c.1105C>G, NM_000545.6:c.1105C>G, NM_000545.5:c.1105C>G, NM_001306179.2:c.1105C>G, NM_001306179.1:c.1105C>G, NM_001406915.1:c.1105C>G, XM_024449168.2:c.1105C>G, XM_024449168.1:c.1105C>G, NP_000536.6:p.Leu369Val, NP_001293108.2:p.Leu369Val, XP_024304936.1:p.Leu369Val

Select item 14907822025.

rs1490782202 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:120981755 (GRCh38)
12:121419558 (GRCh37)
Canonical SPDI:: NC_000012.12:120981754:G:A
Gene:: HNF1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.120981755G>A, NC_000012.11:g.121419558G>A, NG_011731.2:g.8010G>A

Select item 14907670426.

rs1490767042 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 12:120982478 (GRCh38)
12:121420281 (GRCh37)
Canonical SPDI:: NC_000012.12:120982477:A:G,NC_000012.12:120982477:A:T
Gene:: HNF1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
G=0.00164/3 (Korea1K)
HGVS:: NC_000012.12:g.120982478A>G, NC_000012.12:g.120982478A>T, NC_000012.11:g.121420281A>G, NC_000012.11:g.121420281A>T, NG_011731.2:g.8733A>G, NG_011731.2:g.8733A>T

Select item 14906609527.

rs1490660952 [Homo sapiens]

Variant type:: DELINS
Alleles:: CATC>- [Show Flanks]
Chromosome:: 12:120988377 (GRCh38)
12:121426180 (GRCh37)
Canonical SPDI:: NC_000012.12:120988370:TCCATCCATC:TCCATC
Gene:: HNF1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCCATC=0./0 (ALFA)
-=0.00003/4 (GnomAD)
-=0.000049/13 (TOPMED)
-=0.000459/8 (TOMMO)
HGVS:: NC_000012.12:g.120988373CATC[1], NC_000012.11:g.121426176CATC[1], NG_011731.2:g.14628CATC[1]

Select item 14906278708.

rs1490627870 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCCGTCCATCCA>- [Show Flanks]
Chromosome:: 12:120988447 (GRCh38)
12:121426250 (GRCh37)
Canonical SPDI:: NC_000012.12:120988438:TCCATCCATCCGTCCATCCA:TCCATCCA
Gene:: HNF1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TCCATCCA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.120988447_120988458del, NC_000012.11:g.121426250_121426261del, NG_011731.2:g.14702_14713del

Select item 14905841769.

rs1490584176 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 12:120991016 (GRCh38)
12:121428819 (GRCh37)
Canonical SPDI:: NC_000012.12:120991015:T:C,NC_000012.12:120991015:T:G
Gene:: HNF1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.120991016T>C, NC_000012.12:g.120991016T>G, NC_000012.11:g.121428819T>C, NC_000012.11:g.121428819T>G, NG_011731.2:g.17271T>C, NG_011731.2:g.17271T>G

Select item 149055164610.

rs1490551646 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:120984672 (GRCh38)
12:121422475 (GRCh37)
Canonical SPDI:: NC_000012.12:120984671:G:A
Gene:: HNF1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000022/3 (GnomAD)
HGVS:: NC_000012.12:g.120984672G>A, NC_000012.11:g.121422475G>A, NG_011731.2:g.10927G>A

Select item 149042427211.

rs1490424272 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 12:120982236 (GRCh38)
12:121420040 (GRCh37)
Canonical SPDI:: NC_000012.12:120982236:TTTTTT:TTTTTTT
Gene:: HNF1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTTTTT=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.120982242dup, NC_000012.11:g.121420045dup, NG_011731.2:g.8497dup

Select item 149041030912.

rs1490410309 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:120995646 (GRCh38)
12:121433449 (GRCh37)
Canonical SPDI:: NC_000012.12:120995645:A:G
Gene:: HNF1A (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_000012.12:g.120995646A>G, NC_000012.11:g.121433449A>G, NG_011731.2:g.21901A>G

Select item 149033203813.

rs1490332038 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:120977013 (GRCh38)
12:121414816 (GRCh37)
Canonical SPDI:: NC_000012.12:120977012:G:T
Gene:: HNF1A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000012.12:g.120977013G>T, NC_000012.11:g.121414816G>T, NG_011731.2:g.3268G>T

Select item 149030985114.

rs1490309851 has merged into rs781218891 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 12:120990147 (GRCh38)
12:121427950 (GRCh37)
Canonical SPDI:: NC_000012.12:120990144:TTTTTTT:TT,NC_000012.12:120990144:TTTTTTT:TTT,NC_000012.12:120990144:TTTTTTT:TTTTTTTT,NC_000012.12:120990144:TTTTTTT:TTTTTTTTTT
Gene:: HNF1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
-=0./0 (TWINSUK)
-=0.000034/9 (TOPMED)
TTT=0.000035/1 (TOMMO)
-=0.000259/1 (ALSPAC)
HGVS:: NC_000012.12:g.120990147_120990151del, NC_000012.12:g.120990148_120990151del, NC_000012.12:g.120990151dup, NC_000012.12:g.120990149_120990151dup, NC_000012.11:g.121427950_121427954del, NC_000012.11:g.121427951_121427954del, NC_000012.11:g.121427954dup, NC_000012.11:g.121427952_121427954dup, NG_011731.2:g.16402_16406del, NG_011731.2:g.16403_16406del, NG_011731.2:g.16406dup, NG_011731.2:g.16404_16406dup

Select item 149029312415.

rs1490293124 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGGAAAGG>-,GAGGAAAGGGAGGAAAGG,GAGGAAAGGGAGGAAAGGGAGGAAAGATAGGAAAGGGAGGAAAGGGAGGAAAGG [Show Flanks]
Chromosome:: 12:120990662 (GRCh38)
12:121428465 (GRCh37)
Canonical SPDI:: NC_000012.12:120990653:AGGAAAGGGAGGAAAGG:AGGAAAGG,NC_000012.12:120990653:AGGAAAGGGAGGAAAGG:AGGAAAGGGAGGAAAGGGAGGAAAGG,NC_000012.12:120990653:AGGAAAGGGAGGAAAGG:AGGAAAGGGAGGAAAGGGAGGAAAGGGAGGAAAGATAGGAAAGGGAGGAAAGGGAGGAAAGG
Gene:: HNF1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGGAAAGGGAGGAAAGGGAGGAAAGG=0./0 (ALFA)
HGVS:: NC_000012.12:g.120990662_120990670del, NC_000012.12:g.120990662_120990670dup, NC_000012.12:g.120990654_120990670AGGAAAGGG[3]AGGAAAGATAGGAAAGGGAGGAAAGGGAGGAAAGG[1], NC_000012.11:g.121428465_121428473del, NC_000012.11:g.121428465_121428473dup, NC_000012.11:g.121428457_121428473AGGAAAGGG[3]AGGAAAGATAGGAAAGGGAGGAAAGGGAGGAAAGG[1], NG_011731.2:g.16917_16925del, NG_011731.2:g.16917_16925dup, NG_011731.2:g.16909_16925AGGAAAGGG[3]AGGAAAGATAGGAAAGGGAGGAAAGGGAGGAAAGG[1]

Select item 148975479116.

rs1489754791 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:120998264 (GRCh38)
12:121436067 (GRCh37)
Canonical SPDI:: NC_000012.12:120998263:A:G
Gene:: HNF1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.120998264A>G, NC_000012.11:g.121436067A>G, NG_011731.2:g.24519A>G

Select item 148965017917.

rs1489650179 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:120976659 (GRCh38)
12:121414462 (GRCh37)
Canonical SPDI:: NC_000012.12:120976658:C:T
Gene:: HNF1A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.120976659C>T, NC_000012.11:g.121414462C>T, NG_011731.2:g.2914C>T

Select item 148956751018.

rs1489567510 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:121000087 (GRCh38)
12:121437890 (GRCh37)
Canonical SPDI:: NC_000012.12:121000086:C:T
Gene:: HNF1A (Varview), C12orf43 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000012.12:g.121000087C>T, NC_000012.11:g.121437890C>T, NG_011731.2:g.26342C>T

Select item 148952940019.

rs1489529400 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:120988439 (GRCh38)
12:121426242 (GRCh37)
Canonical SPDI:: NC_000012.12:120988438:T:C
Gene:: HNF1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000012.12:g.120988439T>C, NC_000012.11:g.121426242T>C, NG_011731.2:g.14694T>C