SNP Links for Nucleotide (Select 291084723) - SNP

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Select item 14910885961.

rs1491088596 has merged into rs61323973 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:232773920 (GRCh38)
2:233638630 (GRCh37)
Canonical SPDI:: NC_000002.12:232773910:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000002.12:232773910:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:232773910:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:232773910:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:232773910:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:232773910:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:232773910:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:232773910:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:232773910:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:232773910:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:232773910:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:232773910:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:232773910:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:232773910:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:232773910:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:232773910:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:232773910:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:232773910:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:232773910:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:232773910:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:232773910:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:232773910:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: KCNJ13 (Varview), GIGYF2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.232773920_232773933del, NC_000002.12:g.232773922_232773933del, NC_000002.12:g.232773923_232773933del, NC_000002.12:g.232773924_232773933del, NC_000002.12:g.232773925_232773933del, NC_000002.12:g.232773927_232773933del, NC_000002.12:g.232773928_232773933del, NC_000002.12:g.232773929_232773933del, NC_000002.12:g.232773930_232773933del, NC_000002.12:g.232773931_232773933del, NC_000002.12:g.232773932_232773933del, NC_000002.12:g.232773933del, NC_000002.12:g.232773933dup, NC_000002.12:g.232773932_232773933dup, NC_000002.12:g.232773931_232773933dup, NC_000002.12:g.232773930_232773933dup, NC_000002.12:g.232773929_232773933dup, NC_000002.12:g.232773928_232773933dup, NC_000002.12:g.232773927_232773933dup, NC_000002.12:g.232773923_232773933dup, NC_000002.12:g.232773922_232773933dup, NC_000002.12:g.232773921_232773933dup, NC_000002.11:g.233638630_233638643del, NC_000002.11:g.233638632_233638643del, NC_000002.11:g.233638633_233638643del, NC_000002.11:g.233638634_233638643del, NC_000002.11:g.233638635_233638643del, NC_000002.11:g.233638637_233638643del, NC_000002.11:g.233638638_233638643del, NC_000002.11:g.233638639_233638643del, NC_000002.11:g.233638640_233638643del, NC_000002.11:g.233638641_233638643del, NC_000002.11:g.233638642_233638643del, NC_000002.11:g.233638643del, NC_000002.11:g.233638643dup, NC_000002.11:g.233638642_233638643dup, NC_000002.11:g.233638641_233638643dup, NC_000002.11:g.233638640_233638643dup, NC_000002.11:g.233638639_233638643dup, NC_000002.11:g.233638638_233638643dup, NC_000002.11:g.233638637_233638643dup, NC_000002.11:g.233638633_233638643dup, NC_000002.11:g.233638632_233638643dup, NC_000002.11:g.233638631_233638643dup, NG_011847.1:g.81616_81629del, NG_011847.1:g.81618_81629del, NG_011847.1:g.81619_81629del, NG_011847.1:g.81620_81629del, NG_011847.1:g.81621_81629del, NG_011847.1:g.81623_81629del, NG_011847.1:g.81624_81629del, NG_011847.1:g.81625_81629del, NG_011847.1:g.81626_81629del, NG_011847.1:g.81627_81629del, NG_011847.1:g.81628_81629del, NG_011847.1:g.81629del, NG_011847.1:g.81629dup, NG_011847.1:g.81628_81629dup, NG_011847.1:g.81627_81629dup, NG_011847.1:g.81626_81629dup, NG_011847.1:g.81625_81629dup, NG_011847.1:g.81624_81629dup, NG_011847.1:g.81623_81629dup, NG_011847.1:g.81619_81629dup, NG_011847.1:g.81618_81629dup, NG_011847.1:g.81617_81629dup, NG_016742.1:g.7642_7655del, NG_016742.1:g.7644_7655del, NG_016742.1:g.7645_7655del, NG_016742.1:g.7646_7655del, NG_016742.1:g.7647_7655del, NG_016742.1:g.7649_7655del, NG_016742.1:g.7650_7655del, NG_016742.1:g.7651_7655del, NG_016742.1:g.7652_7655del, NG_016742.1:g.7653_7655del, NG_016742.1:g.7654_7655del, NG_016742.1:g.7655del, NG_016742.1:g.7655dup, NG_016742.1:g.7654_7655dup, NG_016742.1:g.7653_7655dup, NG_016742.1:g.7652_7655dup, NG_016742.1:g.7651_7655dup, NG_016742.1:g.7650_7655dup, NG_016742.1:g.7649_7655dup, NG_016742.1:g.7645_7655dup, NG_016742.1:g.7644_7655dup, NG_016742.1:g.7643_7655dup, XM_047444253.1:c.-2562_-2549del, XM_047444253.1:c.-2560_-2549del, XM_047444253.1:c.-2559_-2549del, XM_047444253.1:c.-2558_-2549del, XM_047444253.1:c.-2557_-2549del, XM_047444253.1:c.-2555_-2549del, XM_047444253.1:c.-2554_-2549del, XM_047444253.1:c.-2553_-2549del, XM_047444253.1:c.-2552_-2549del, XM_047444253.1:c.-2551_-2549del, XM_047444253.1:c.-2550_-2549del, XM_047444253.1:c.-2549del, XM_047444253.1:c.-2549dup, XM_047444253.1:c.-2550_-2549dup, XM_047444253.1:c.-2551_-2549dup, XM_047444253.1:c.-2552_-2549dup, XM_047444253.1:c.-2553_-2549dup, XM_047444253.1:c.-2554_-2549dup, XM_047444253.1:c.-2555_-2549dup, XM_047444253.1:c.-2559_-2549dup, XM_047444253.1:c.-2560_-2549dup, XM_047444253.1:c.-2561_-2549dup

Select item 14909728782.

rs1490972878 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:232772319 (GRCh38)
2:233637029 (GRCh37)
Canonical SPDI:: NC_000002.12:232772318:C:T
Gene:: KCNJ13 (Varview), GIGYF2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.232772319C>T, NC_000002.11:g.233637029C>T, NG_011847.1:g.80015C>T, NG_016742.1:g.9247G>A, XM_047444253.1:c.-957G>A

Select item 14908448363.

rs1490844836 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:232768851 (GRCh38)
2:233633561 (GRCh37)
Canonical SPDI:: NC_000002.12:232768850:A:T
Gene:: KCNJ13 (Varview), GIGYF2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.232768851A>T, NC_000002.11:g.233633561A>T, NG_011847.1:g.76547A>T, NG_016742.1:g.12715T>A

Select item 14906261644.

rs1490626164 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:232779233 (GRCh38)
2:233643943 (GRCh37)
Canonical SPDI:: NC_000002.12:232779232:A:G
Gene:: GIGYF2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.232779233A>G, NC_000002.11:g.233643943A>G, NG_011847.1:g.86929A>G, NG_016742.1:g.2333T>C

Select item 14905093565.

rs1490509356 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:232771797 (GRCh38)
2:233636507 (GRCh37)
Canonical SPDI:: NC_000002.12:232771796:G:A
Gene:: KCNJ13 (Varview), GIGYF2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,5_prime_UTR_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_000002.12:g.232771797G>A, NC_000002.11:g.233636507G>A, NG_011847.1:g.79493G>A, NG_016742.1:g.9769C>T, XM_047444253.1:c.-435C>T

Select item 14902983506.

rs1490298350 has merged into rs34912964 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:232769516 (GRCh38)
2:233634226 (GRCh37)
Canonical SPDI:: NC_000002.12:232769505:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:232769505:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:232769505:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:232769505:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:232769505:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:232769505:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:232769505:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:232769505:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:232769505:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:232769505:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:232769505:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:232769505:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:232769505:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:232769505:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:232769505:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:232769505:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:232769505:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: KCNJ13 (Varview), GIGYF2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.232769516_232769527del, NC_000002.12:g.232769517_232769527del, NC_000002.12:g.232769519_232769527del, NC_000002.12:g.232769520_232769527del, NC_000002.12:g.232769521_232769527del, NC_000002.12:g.232769522_232769527del, NC_000002.12:g.232769524_232769527del, NC_000002.12:g.232769525_232769527del, NC_000002.12:g.232769526_232769527del, NC_000002.12:g.232769527del, NC_000002.12:g.232769527dup, NC_000002.12:g.232769526_232769527dup, NC_000002.12:g.232769525_232769527dup, NC_000002.12:g.232769524_232769527dup, NC_000002.12:g.232769523_232769527dup, NC_000002.12:g.232769522_232769527dup, NC_000002.12:g.232769521_232769527dup, NC_000002.11:g.233634226_233634237del, NC_000002.11:g.233634227_233634237del, NC_000002.11:g.233634229_233634237del, NC_000002.11:g.233634230_233634237del, NC_000002.11:g.233634231_233634237del, NC_000002.11:g.233634232_233634237del, NC_000002.11:g.233634234_233634237del, NC_000002.11:g.233634235_233634237del, NC_000002.11:g.233634236_233634237del, NC_000002.11:g.233634237del, NC_000002.11:g.233634237dup, NC_000002.11:g.233634236_233634237dup, NC_000002.11:g.233634235_233634237dup, NC_000002.11:g.233634234_233634237dup, NC_000002.11:g.233634233_233634237dup, NC_000002.11:g.233634232_233634237dup, NC_000002.11:g.233634231_233634237dup, NG_011847.1:g.77212_77223del, NG_011847.1:g.77213_77223del, NG_011847.1:g.77215_77223del, NG_011847.1:g.77216_77223del, NG_011847.1:g.77217_77223del, NG_011847.1:g.77218_77223del, NG_011847.1:g.77220_77223del, NG_011847.1:g.77221_77223del, NG_011847.1:g.77222_77223del, NG_011847.1:g.77223del, NG_011847.1:g.77223dup, NG_011847.1:g.77222_77223dup, NG_011847.1:g.77221_77223dup, NG_011847.1:g.77220_77223dup, NG_011847.1:g.77219_77223dup, NG_011847.1:g.77218_77223dup, NG_011847.1:g.77217_77223dup, NG_016742.1:g.12049_12060del, NG_016742.1:g.12050_12060del, NG_016742.1:g.12052_12060del, NG_016742.1:g.12053_12060del, NG_016742.1:g.12054_12060del, NG_016742.1:g.12055_12060del, NG_016742.1:g.12057_12060del, NG_016742.1:g.12058_12060del, NG_016742.1:g.12059_12060del, NG_016742.1:g.12060del, NG_016742.1:g.12060dup, NG_016742.1:g.12059_12060dup, NG_016742.1:g.12058_12060dup, NG_016742.1:g.12057_12060dup, NG_016742.1:g.12056_12060dup, NG_016742.1:g.12055_12060dup, NG_016742.1:g.12054_12060dup

Select item 14902422447.

rs1490242244 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:232764446 (GRCh38)
2:233629156 (GRCh37)
Canonical SPDI:: NC_000002.12:232764445:A:T
Gene:: GIGYF2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.232764446A>T, NC_000002.11:g.233629156A>T, NG_011847.1:g.72142A>T, NG_016742.1:g.17120T>A

Select item 14901118038.

rs1490111803 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:232780816 (GRCh38)
2:233645526 (GRCh37)
Canonical SPDI:: NC_000002.12:232780815:A:G
Gene:: GIGYF2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.232780816A>G, NC_000002.11:g.233645526A>G, NG_011847.1:g.88512A>G, NG_016742.1:g.750T>C

Select item 14898875399.

rs1489887539 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:232773242 (GRCh38)
2:233637952 (GRCh37)
Canonical SPDI:: NC_000002.12:232773241:C:G
Gene:: KCNJ13 (Varview), GIGYF2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.232773242C>G, NC_000002.11:g.233637952C>G, NG_011847.1:g.80938C>G, NG_016742.1:g.8324G>C, XM_047444253.1:c.-1880G>C

Select item 148966539010.

rs1489665390 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:232780066 (GRCh38)
2:233644776 (GRCh37)
Canonical SPDI:: NC_000002.12:232780065:T:C
Gene:: GIGYF2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.232780066T>C, NC_000002.11:g.233644776T>C, NG_011847.1:g.87762T>C, NG_016742.1:g.1500A>G, NG_077130.1:g.148T>C

Select item 148955678011.

rs1489556780 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 2:232774121 (GRCh38)
2:233638831 (GRCh37)
Canonical SPDI:: NC_000002.12:232774120:G:
Gene:: KCNJ13 (Varview), GIGYF2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.232774121del, NC_000002.11:g.233638831del, NG_011847.1:g.81817del, NG_016742.1:g.7445del

Select item 148935993712.

rs1489359937 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 2:232773157 (GRCh38)
2:233637867 (GRCh37)
Canonical SPDI:: NC_000002.12:232773156:A:G,NC_000002.12:232773156:A:T
Gene:: KCNJ13 (Varview), GIGYF2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.232773157A>G, NC_000002.12:g.232773157A>T, NC_000002.11:g.233637867A>G, NC_000002.11:g.233637867A>T, NG_011847.1:g.80853A>G, NG_011847.1:g.80853A>T, NG_016742.1:g.8409T>C, NG_016742.1:g.8409T>A, XM_047444253.1:c.-1795T>C, XM_047444253.1:c.-1795T>A

Select item 148935238213.

rs1489352382 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:232773856 (GRCh38)
2:233638566 (GRCh37)
Canonical SPDI:: NC_000002.12:232773855:G:A
Gene:: KCNJ13 (Varview), GIGYF2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00003/4 (GnomAD)
HGVS:: NC_000002.12:g.232773856G>A, NC_000002.11:g.233638566G>A, NG_011847.1:g.81552G>A, NG_016742.1:g.7710C>T, XM_047444253.1:c.-2494C>T

Select item 148932192714.

rs1489321927 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:232771614 (GRCh38)
2:233636324 (GRCh37)
Canonical SPDI:: NC_000002.12:232771613:T:C
Gene:: KCNJ13 (Varview), GIGYF2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.232771614T>C, NC_000002.11:g.233636324T>C, NG_011847.1:g.79310T>C, NG_016742.1:g.9952A>G, XM_047444253.1:c.-252A>G

Select item 148911270315.

rs1489112703 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:232776411 (GRCh38)
2:233641121 (GRCh37)
Canonical SPDI:: NC_000002.12:232776410:G:A
Gene:: KCNJ13 (Varview), GIGYF2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,splice_acceptor_variant
HGVS:: NC_000002.12:g.232776411G>A, NC_000002.11:g.233641121G>A, NG_011847.1:g.84107G>A, NG_016742.1:g.5155C>T

Select item 148907078816.

rs1489070788 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:232780388 (GRCh38)
2:233645098 (GRCh37)
Canonical SPDI:: NC_000002.12:232780387:A:G
Gene:: GIGYF2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.232780388A>G, NC_000002.11:g.233645098A>G, NG_011847.1:g.88084A>G, NG_016742.1:g.1178T>C, NG_077130.1:g.470A>G

Select item 148891336017.

rs1488913360 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:232770190 (GRCh38)
2:233634900 (GRCh37)
Canonical SPDI:: NC_000002.12:232770189:G:A
Gene:: KCNJ13 (Varview), GIGYF2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.232770190G>A, NC_000002.11:g.233634900G>A, NG_011847.1:g.77886G>A, NG_016742.1:g.11376C>T

Select item 148882188918.

rs1488821889 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:232769240 (GRCh38)
2:233633950 (GRCh37)
Canonical SPDI:: NC_000002.12:232769239:T:C
Gene:: KCNJ13 (Varview), GIGYF2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00003/8 (TOPMED)
HGVS:: NC_000002.12:g.232769240T>C, NC_000002.11:g.233633950T>C, NG_011847.1:g.76936T>C, NG_016742.1:g.12326A>G

Select item 148829775219.

rs1488297752 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:232777389 (GRCh38)
2:233642099 (GRCh37)
Canonical SPDI:: NC_000002.12:232777388:T:G
Gene:: KCNJ13 (Varview), GIGYF2 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000002.12:g.232777389T>G, NC_000002.11:g.233642099T>G, NG_011847.1:g.85085T>G, NG_016742.1:g.4177A>C

Select item 148827068620.

rs1488270686 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:232778679 (GRCh38)
2:233643389 (GRCh37)
Canonical SPDI:: NC_000002.12:232778678:G:T
Gene:: GIGYF2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.232778679G>T, NC_000002.11:g.233643389G>T, NG_011847.1:g.86375G>T, NG_016742.1:g.2887C>A

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