SNP Links for Gene (Select 1797) - SNP

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Select item 14913962481.

rs1491396248 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:31974279 (GRCh38)
6:31942056 (GRCh37)
Canonical SPDI:: NC_000006.12:31974278:CA:
Gene:: STK19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000006.12:g.31974279_31974280del, NC_000006.11:g.31942056_31942057del, NT_113891.3:g.3451706_3451707del, NT_113891.2:g.3451812_3451813del, NT_167248.2:g.3230249_3230250del, NT_167248.1:g.3235845_3235846del, NT_167245.2:g.3222072dup, NT_167245.2:g.3222054del, NT_167245.1:g.3227657dup, NT_167245.1:g.3227639del

Select item 14911802072.

rs1491180207 has merged into rs11404431 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:31974294 (GRCh38)
6:31942071 (GRCh37)
Canonical SPDI:: NC_000006.12:31974279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:31974279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:31974279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:31974279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:31974279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:31974279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:31974279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:31974279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:31974279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:31974279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:31974279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: STK19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.3606/1806 (1000Genomes)
HGVS:: NC_000006.12:g.31974294_31974298del, NC_000006.12:g.31974295_31974298del, NC_000006.12:g.31974296_31974298del, NC_000006.12:g.31974297_31974298del, NC_000006.12:g.31974298del, NC_000006.12:g.31974298dup, NC_000006.12:g.31974297_31974298dup, NC_000006.12:g.31974296_31974298dup, NC_000006.12:g.31974294_31974298dup, NC_000006.12:g.31974290_31974298dup, NC_000006.12:g.31974288_31974298dup, NC_000006.11:g.31942071_31942075del, NC_000006.11:g.31942072_31942075del, NC_000006.11:g.31942073_31942075del, NC_000006.11:g.31942074_31942075del, NC_000006.11:g.31942075del, NC_000006.11:g.31942075dup, NC_000006.11:g.31942074_31942075dup, NC_000006.11:g.31942073_31942075dup, NC_000006.11:g.31942071_31942075dup, NC_000006.11:g.31942067_31942075dup, NC_000006.11:g.31942065_31942075dup, NT_113891.3:g.3451721_3451725del, NT_113891.3:g.3451722_3451725del, NT_113891.3:g.3451723_3451725del, NT_113891.3:g.3451724_3451725del, NT_113891.3:g.3451725del, NT_113891.3:g.3451725dup, NT_113891.3:g.3451724_3451725dup, NT_113891.3:g.3451723_3451725dup, NT_113891.3:g.3451721_3451725dup, NT_113891.3:g.3451717_3451725dup, NT_113891.3:g.3451715_3451725dup, NT_113891.2:g.3451827_3451831del, NT_113891.2:g.3451828_3451831del, NT_113891.2:g.3451829_3451831del, NT_113891.2:g.3451830_3451831del, NT_113891.2:g.3451831del, NT_113891.2:g.3451831dup, NT_113891.2:g.3451830_3451831dup, NT_113891.2:g.3451829_3451831dup, NT_113891.2:g.3451827_3451831dup, NT_113891.2:g.3451823_3451831dup, NT_113891.2:g.3451821_3451831dup, NT_167248.2:g.3230264_3230268del, NT_167248.2:g.3230265_3230268del, NT_167248.2:g.3230266_3230268del, NT_167248.2:g.3230267_3230268del, NT_167248.2:g.3230268del, NT_167248.2:g.3230268dup, NT_167248.2:g.3230267_3230268dup, NT_167248.2:g.3230266_3230268dup, NT_167248.2:g.3230264_3230268dup, NT_167248.2:g.3230260_3230268dup, NT_167248.2:g.3230258_3230268dup, NT_167248.1:g.3235860_3235864del, NT_167248.1:g.3235861_3235864del, NT_167248.1:g.3235862_3235864del, NT_167248.1:g.3235863_3235864del, NT_167248.1:g.3235864del, NT_167248.1:g.3235864dup, NT_167248.1:g.3235863_3235864dup, NT_167248.1:g.3235862_3235864dup, NT_167248.1:g.3235860_3235864dup, NT_167248.1:g.3235856_3235864dup, NT_167248.1:g.3235854_3235864dup, NT_167245.2:g.3222072dup, NT_167245.2:g.3222069_3222072del, NT_167245.2:g.3222070_3222072del, NT_167245.2:g.3222071_3222072del, NT_167245.2:g.3222072del, NT_167245.2:g.3222071_3222072dup, NT_167245.2:g.3222070_3222072dup, NT_167245.2:g.3222069_3222072dup, NT_167245.2:g.3222067_3222072dup, NT_167245.2:g.3222063_3222072dup, NT_167245.2:g.3222061_3222072dup, NT_167249.2:g.3275484_3275488del, NT_167249.2:g.3275485_3275488del, NT_167249.2:g.3275486_3275488del, NT_167249.2:g.3275487_3275488del, NT_167249.2:g.3275488del, NT_167249.2:g.3275488dup, NT_167249.2:g.3275487_3275488dup, NT_167249.2:g.3275486_3275488dup, NT_167249.2:g.3275484_3275488dup, NT_167249.2:g.3275480_3275488dup, NT_167249.2:g.3275478_3275488dup, NT_167249.1:g.3274782_3274786del, NT_167249.1:g.3274783_3274786del, NT_167249.1:g.3274784_3274786del, NT_167249.1:g.3274785_3274786del, NT_167249.1:g.3274786del, NT_167249.1:g.3274786dup, NT_167249.1:g.3274785_3274786dup, NT_167249.1:g.3274784_3274786dup, NT_167249.1:g.3274782_3274786dup, NT_167249.1:g.3274778_3274786dup, NT_167249.1:g.3274776_3274786dup, NT_167247.2:g.3316331_3316335del, NT_167247.2:g.3316332_3316335del, NT_167247.2:g.3316333_3316335del, NT_167247.2:g.3316334_3316335del, NT_167247.2:g.3316335del, NT_167247.2:g.3316335dup, NT_167247.2:g.3316334_3316335dup, NT_167247.2:g.3316333_3316335dup, NT_167247.2:g.3316331_3316335dup, NT_167247.2:g.3316327_3316335dup, NT_167247.2:g.3316325_3316335dup, NT_167247.1:g.3321916_3321920del, NT_167247.1:g.3321917_3321920del, NT_167247.1:g.3321918_3321920del, NT_167247.1:g.3321919_3321920del, NT_167247.1:g.3321920del, NT_167247.1:g.3321920dup, NT_167247.1:g.3321919_3321920dup, NT_167247.1:g.3321918_3321920dup, NT_167247.1:g.3321916_3321920dup, NT_167247.1:g.3321912_3321920dup, NT_167247.1:g.3321910_3321920dup, NT_167245.1:g.3227657dup, NT_167245.1:g.3227654_3227657del, NT_167245.1:g.3227655_3227657del, NT_167245.1:g.3227656_3227657del, NT_167245.1:g.3227657del, NT_167245.1:g.3227656_3227657dup, NT_167245.1:g.3227655_3227657dup, NT_167245.1:g.3227654_3227657dup, NT_167245.1:g.3227652_3227657dup, NT_167245.1:g.3227648_3227657dup, NT_167245.1:g.3227646_3227657dup

Select item 14909682943.

rs1490968294 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:31973078 (GRCh38)
6:31940855 (GRCh37)
Canonical SPDI:: NC_000006.12:31973077:C:T
Gene:: DXO (Varview), STK19 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000009/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31973078C>T, NC_000006.11:g.31940855C>T, NT_113891.3:g.3450505C>T, NT_113891.2:g.3450611C>T, NT_167248.2:g.3229048C>T, NT_167248.1:g.3234644C>T, NT_167245.2:g.3220853C>T, NT_167245.1:g.3226438C>T, NT_167249.2:g.3274267C>T, NT_167249.1:g.3273565C>T, NT_167247.2:g.3315114C>T, NT_167247.1:g.3320699C>T

Select item 14897404374.

rs1489740437 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGA>- [Show Flanks]
Chromosome:: 6:31969799 (GRCh38)
6:31937576 (GRCh37)
Canonical SPDI:: NC_000006.12:31969794:AAGAAGA:AAGA
Gene:: DXO (Varview), SKIV2L (Varview), STK19 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAGA=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000015/4 (TOPMED)
-=0.000071/2 (TOMMO)
HGVS:: NC_000006.12:g.31969796AGA[1], NC_000006.11:g.31937573AGA[1], NG_032652.1:g.15993AGA[1], NT_113891.3:g.3447223AGA[1], NT_113891.2:g.3447329AGA[1], NT_167249.2:g.3270985AGA[1], NT_167249.1:g.3270283AGA[1], NT_167247.2:g.3311832AGA[1], NT_167247.1:g.3317417AGA[1], NT_167248.2:g.3225766AGA[1], NT_167248.1:g.3231362AGA[1], NT_167245.2:g.3217571AGA[1], NT_167245.1:g.3223156AGA[1]

Select item 14889372695.

rs1488937269 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 6:31972999 (GRCh38)
6:31940776 (GRCh37)
Canonical SPDI:: NC_000006.12:31972998:A:G,NC_000006.12:31972998:A:T
Gene:: DXO (Varview), STK19 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
T=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31972999A>G, NC_000006.12:g.31972999A>T, NC_000006.11:g.31940776A>G, NC_000006.11:g.31940776A>T, NT_113891.3:g.3450426A>G, NT_113891.3:g.3450426A>T, NT_113891.2:g.3450532A>G, NT_113891.2:g.3450532A>T, NT_167248.2:g.3228969A>G, NT_167248.2:g.3228969A>T, NT_167248.1:g.3234565A>G, NT_167248.1:g.3234565A>T, NT_167245.2:g.3220774A>G, NT_167245.2:g.3220774A>T, NT_167245.1:g.3226359A>G, NT_167245.1:g.3226359A>T, NT_167249.2:g.3274188A>G, NT_167249.2:g.3274188A>T, NT_167249.1:g.3273486A>G, NT_167249.1:g.3273486A>T, NT_167247.2:g.3315035A>G, NT_167247.2:g.3315035A>T, NT_167247.1:g.3320620A>G, NT_167247.1:g.3320620A>T

Select item 14887339286.

rs1488733928 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 6:31972262 (GRCh38)
6:31940040 (GRCh37)
Canonical SPDI:: NC_000006.12:31972262:A:AA
Gene:: DXO (Varview), STK19 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000006.12:g.31972263dup, NC_000006.11:g.31940040dup, NT_113891.3:g.3449690dup, NT_113891.2:g.3449796dup, NT_167248.2:g.3228233dup, NT_167248.1:g.3233829dup, NT_167245.2:g.3220038dup, NT_167245.1:g.3225623dup, NT_167249.2:g.3273452dup, NT_167249.1:g.3272750dup, NT_167247.2:g.3314299dup, NT_167247.1:g.3319884dup, NR_026717.1:n.495dup, NM_001136028.1:c.53dup

Select item 14886367587.

rs1488636758 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:31970731 (GRCh38)
6:31938508 (GRCh37)
Canonical SPDI:: NC_000006.12:31970730:C:G
Gene:: DXO (Varview), STK19 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.31970731C>G, NC_000006.11:g.31938508C>G, NG_032652.1:g.16928C>G, NT_113891.3:g.3448158C>G, NT_113891.2:g.3448264C>G, NT_167249.2:g.3271920C>G, NT_167249.1:g.3271218C>G, NT_167247.2:g.3312767C>G, NT_167247.1:g.3318352C>G, NT_167248.2:g.3226701C>G, NT_167248.1:g.3232297C>G, NT_167245.2:g.3218506C>G, NT_167245.1:g.3224091C>G, XM_006715005.4:c.687G>C, XM_006715005.3:c.687G>C, XM_006715005.2:c.687G>C, XM_006715005.1:c.687G>C, NM_005510.4:c.687G>C, NM_005510.3:c.687G>C, XM_047418264.1:c.614G>C, XM_047418263.1:c.687G>C, XM_047418262.1:c.687G>C, NM_001371206.1:c.135G>C, NM_001371205.1:c.135G>C, NM_032419.1:c.687G>C, XP_047274220.1:p.Cys205Ser

Select item 14876901158.

rs1487690115 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:31969334 (GRCh38)
6:31937111 (GRCh37)
Canonical SPDI:: NC_000006.12:31969333:T:G
Gene:: DXO (Varview), SKIV2L (Varview), STK19 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,downstream_transcript_variant,genic_downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31969334T>G, NC_000006.11:g.31937111T>G, NG_032652.1:g.15531T>G, NM_006929.5:c.3454T>G, NM_006929.4:c.3454T>G, NT_113891.3:g.3446761T>G, NT_113891.2:g.3446867T>G, NT_167249.2:g.3270523T>G, NT_167249.1:g.3269821T>G, NT_167247.2:g.3311370T>G, NT_167247.1:g.3316955T>G, NT_167248.2:g.3225304T>G, NT_167248.1:g.3230900T>G, NT_167245.2:g.3217109T>G, NT_167245.1:g.3222694T>G, NP_008860.4:p.Cys1152Gly

Select item 14867796159.

rs1486779615 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 6:31971214 (GRCh38)
6:31938991 (GRCh37)
Canonical SPDI:: NC_000006.12:31971213:T:C,NC_000006.12:31971213:T:G
Gene:: DXO (Varview), STK19 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000021/3 (GnomAD)
C=0.000156/1 (1000Genomes)
HGVS:: NC_000006.12:g.31971214T>C, NC_000006.12:g.31971214T>G, NC_000006.11:g.31938991T>C, NC_000006.11:g.31938991T>G, NG_032652.1:g.17411T>C, NG_032652.1:g.17411T>G, NT_113891.3:g.3448641T>C, NT_113891.3:g.3448641T>G, NT_113891.2:g.3448747T>C, NT_113891.2:g.3448747T>G, NT_167249.2:g.3272403T>C, NT_167249.2:g.3272403T>G, NT_167249.1:g.3271701T>C, NT_167249.1:g.3271701T>G, NT_167247.2:g.3313250T>C, NT_167247.2:g.3313250T>G, NT_167247.1:g.3318835T>C, NT_167247.1:g.3318835T>G, NT_167248.2:g.3227184T>C, NT_167248.2:g.3227184T>G, NT_167248.1:g.3232780T>C, NT_167248.1:g.3232780T>G, NT_167245.2:g.3218989T>C, NT_167245.2:g.3218989T>G, NT_167245.1:g.3224574T>C, NT_167245.1:g.3224574T>G, NM_001136028.1:c.-403T>C, NM_001136028.1:c.-403T>G, NR_026717.1:n.40T>C, NR_026717.1:n.40T>G

Select item 148489392410.

rs1484893924 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:31969878 (GRCh38)
6:31937655 (GRCh37)
Canonical SPDI:: NC_000006.12:31969877:T:C
Gene:: DXO (Varview), SKIV2L (Varview), STK19 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,genic_downstream_transcript_variant,stop_lost,terminator_codon_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00002/5 (GnomAD_exomes)
C=0.000079/21 (TOPMED)
C=0.000121/17 (GnomAD)
HGVS:: NC_000006.12:g.31969878T>C, NC_000006.11:g.31937655T>C, NG_032652.1:g.16075T>C, NT_113891.3:g.3447305T>C, NT_113891.2:g.3447411T>C, NT_167249.2:g.3271067T>C, NT_167249.1:g.3270365T>C, NT_167247.2:g.3311914T>C, NT_167247.1:g.3317499T>C, NT_167248.2:g.3225848T>C, NT_167248.1:g.3231444T>C, NT_167245.2:g.3217653T>C, NT_167245.1:g.3223238T>C, XM_006715005.4:c.1190A>G, XM_006715005.3:c.1190A>G, XM_006715005.2:c.1190A>G, XM_006715005.1:c.1190A>G, NM_005510.4:c.1190A>G, NM_005510.3:c.1190A>G, XM_047418262.1:c.1190A>G, NM_001371205.1:c.638A>G, NM_001371206.1:c.638A>G, NM_032419.1:c.980A>G, XP_006715068.1:p.Ter397Trp, NP_005501.2:p.Ter397Trp, XP_047274218.1:p.Ter397Trp, NP_001358134.1:p.Ter213Trp, NP_001358135.1:p.Ter213Trp

Select item 148488413711.

rs1484884137 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:31970636 (GRCh38)
6:31938413 (GRCh37)
Canonical SPDI:: NC_000006.12:31970635:T:C
Gene:: DXO (Varview), STK19 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31970636T>C, NC_000006.11:g.31938413T>C, NG_032652.1:g.16833T>C, NT_113891.3:g.3448063T>C, NT_113891.2:g.3448169T>C, NT_167249.2:g.3271825T>C, NT_167249.1:g.3271123T>C, NT_167247.2:g.3312672T>C, NT_167247.1:g.3318257T>C, NT_167248.2:g.3226606T>C, NT_167248.1:g.3232202T>C, NT_167245.2:g.3218411T>C, NT_167245.1:g.3223996T>C, XM_006715005.4:c.782A>G, XM_006715005.3:c.782A>G, XM_006715005.2:c.782A>G, XM_006715005.1:c.782A>G, NM_005510.4:c.782A>G, NM_005510.3:c.782A>G, XM_047418264.1:c.*76A>G, XM_047418262.1:c.782A>G, XM_047418263.1:c.782A>G, NM_001371206.1:c.230A>G, NM_001371205.1:c.230A>G, XP_006715068.1:p.His261Arg, NP_005501.2:p.His261Arg, XP_047274218.1:p.His261Arg, XP_047274219.1:p.His261Arg, NP_001358135.1:p.His77Arg, NP_001358134.1:p.His77Arg

Select item 148470479512.

rs1484704795 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31973656 (GRCh38)
6:31941433 (GRCh37)
Canonical SPDI:: NC_000006.12:31973655:G:A
Gene:: DXO (Varview), STK19 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.31973656G>A, NC_000006.11:g.31941433G>A, NT_113891.3:g.3451083G>A, NT_113891.2:g.3451189G>A, NT_167248.2:g.3229626G>A, NT_167248.1:g.3235222G>A, NT_167245.2:g.3221431G>A, NT_167245.1:g.3227016G>A, NT_167249.2:g.3274845G>A, NT_167249.1:g.3274143G>A, NT_167247.2:g.3315692G>A, NT_167247.1:g.3321277G>A

Select item 148465669213.

rs1484656692 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:31972975 (GRCh38)
6:31940752 (GRCh37)
Canonical SPDI:: NC_000006.12:31972974:C:T
Gene:: DXO (Varview), STK19 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
HGVS:: NC_000006.12:g.31972975C>T, NC_000006.11:g.31940752C>T, NT_113891.3:g.3450402C>T, NT_113891.2:g.3450508C>T, NT_167248.2:g.3228945C>T, NT_167248.1:g.3234541C>T, NT_167245.2:g.3220750C>T, NT_167245.1:g.3226335C>T, NT_167249.2:g.3274164C>T, NT_167249.1:g.3273462C>T, NT_167247.2:g.3315011C>T, NT_167247.1:g.3320596C>T

Select item 148448359514.

rs1484483595 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:31972043 (GRCh38)
6:31939820 (GRCh37)
Canonical SPDI:: NC_000006.12:31972042:A:C
Gene:: DXO (Varview), STK19 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.31972043A>C, NC_000006.11:g.31939820A>C, NT_113891.3:g.3449470A>C, NT_113891.2:g.3449576A>C, NT_167248.2:g.3228013A>C, NT_167248.1:g.3233609A>C, NT_167245.2:g.3219818A>C, NT_167245.1:g.3225403A>C, NT_167249.2:g.3273232A>C, NT_167249.1:g.3272530A>C, NT_167247.2:g.3314079A>C, NT_167247.1:g.3319664A>C, XM_006715005.4:c.-165T>G, XM_006715005.3:c.-165T>G, XM_006715005.2:c.-165T>G, XM_006715005.1:c.-165T>G, NM_005510.4:c.-121T>G, NM_005510.3:c.-121T>G, NR_026717.1:n.275A>C, NM_001136028.1:c.-168A>C, XM_047418262.1:c.-368T>G, NM_001371205.1:c.-731T>G, XM_047418263.1:c.-368T>G, NM_001371206.1:c.-573T>G, NM_032419.1:c.-121T>G, NM_032454.1:c.47A>C, NM_004197.1:c.47A>C, XM_047418264.1:c.-368T>G, NP_115830.1:p.Gln16Pro

Select item 148420124815.

rs1484201248 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:31971307 (GRCh38)
6:31939084 (GRCh37)
Canonical SPDI:: NC_000006.12:31971306:A:G
Gene:: DXO (Varview), STK19 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31971307A>G, NC_000006.11:g.31939084A>G, NG_032652.1:g.17504A>G, NT_113891.3:g.3448734A>G, NT_113891.2:g.3448840A>G, NT_167249.2:g.3272496A>G, NT_167249.1:g.3271794A>G, NT_167247.2:g.3313343A>G, NT_167247.1:g.3318928A>G, NT_167248.2:g.3227277A>G, NT_167248.1:g.3232873A>G, NT_167245.2:g.3219082A>G, NT_167245.1:g.3224667A>G, NM_001371205.1:c.-198T>C

Select item 148377060016.

rs1483770600 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCTG>- [Show Flanks]
Chromosome:: 6:31970825 (GRCh38)
6:31938602 (GRCh37)
Canonical SPDI:: NC_000006.12:31970822:TGTCTG:TG
Gene:: DXO (Varview), STK19 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant,splice_acceptor_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TG=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.31970825_31970828del, NC_000006.11:g.31938602_31938605del, NG_032652.1:g.17022_17025del, NT_113891.3:g.3448252_3448255del, NT_113891.2:g.3448358_3448361del, NT_167249.2:g.3272014_3272017del, NT_167249.1:g.3271312_3271315del, NT_167247.2:g.3312861_3312864del, NT_167247.1:g.3318446_3318449del, NT_167248.2:g.3226795_3226798del, NT_167248.1:g.3232391_3232394del, NT_167245.2:g.3218600_3218603del, NT_167245.1:g.3224185_3224188del

Select item 148344178117.

rs1483441781 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31970486 (GRCh38)
6:31938263 (GRCh37)
Canonical SPDI:: NC_000006.12:31970485:G:A
Gene:: DXO (Varview), STK19 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31970486G>A, NC_000006.11:g.31938263G>A, NG_032652.1:g.16683G>A, NT_113891.3:g.3447913G>A, NT_113891.2:g.3448019G>A, NT_167249.2:g.3271675G>A, NT_167249.1:g.3270973G>A, NT_167247.2:g.3312522G>A, NT_167247.1:g.3318107G>A, NT_167248.2:g.3226456G>A, NT_167248.1:g.3232052G>A, NT_167245.2:g.3218261G>A, NT_167245.1:g.3223846G>A

Select item 148282972718.

rs1482829727 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:31971079 (GRCh38)
6:31938856 (GRCh37)
Canonical SPDI:: NC_000006.12:31971078:G:A,NC_000006.12:31971078:G:T
Gene:: DXO (Varview), STK19 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.31971079G>A, NC_000006.12:g.31971079G>T, NC_000006.11:g.31938856G>A, NC_000006.11:g.31938856G>T, NG_032652.1:g.17276G>A, NG_032652.1:g.17276G>T, NT_113891.3:g.3448506G>A, NT_113891.3:g.3448506G>T, NT_113891.2:g.3448612G>A, NT_113891.2:g.3448612G>T, NT_167249.2:g.3272268G>A, NT_167249.2:g.3272268G>T, NT_167249.1:g.3271566G>A, NT_167249.1:g.3271566G>T, NT_167247.2:g.3313115G>A, NT_167247.2:g.3313115G>T, NT_167247.1:g.3318700G>A, NT_167247.1:g.3318700G>T, NT_167248.2:g.3227049G>A, NT_167248.2:g.3227049G>T, NT_167248.1:g.3232645G>A, NT_167248.1:g.3232645G>T, NT_167245.2:g.3218854G>A, NT_167245.2:g.3218854G>T, NT_167245.1:g.3224439G>A, NT_167245.1:g.3224439G>T, XM_006715005.4:c.425C>T, XM_006715005.4:c.425C>A, XM_006715005.3:c.425C>T, XM_006715005.3:c.425C>A, XM_006715005.2:c.425C>T, XM_006715005.2:c.425C>A, XM_006715005.1:c.425C>T, XM_006715005.1:c.425C>A, NM_005510.4:c.425C>T, NM_005510.4:c.425C>A, NM_005510.3:c.425C>T, NM_005510.3:c.425C>A, XM_047418264.1:c.425C>T, XM_047418264.1:c.425C>A, XM_047418263.1:c.425C>T, XM_047418263.1:c.425C>A, XM_047418262.1:c.425C>T, XM_047418262.1:c.425C>A, NM_001371206.1:c.-128C>T, NM_001371206.1:c.-128C>A, NM_001371205.1:c.-128C>T, NM_001371205.1:c.-128C>A, NM_032419.1:c.425C>T, NM_032419.1:c.425C>A, XP_006715068.1:p.Pro142Leu, XP_006715068.1:p.Pro142Gln, NP_005501.2:p.Pro142Leu, NP_005501.2:p.Pro142Gln, XP_047274220.1:p.Pro142Leu, XP_047274220.1:p.Pro142Gln, XP_047274219.1:p.Pro142Leu, XP_047274219.1:p.Pro142Gln, XP_047274218.1:p.Pro142Leu, XP_047274218.1:p.Pro142Gln

Select item 148265526319.

rs1482655263 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31972679 (GRCh38)
6:31940456 (GRCh37)
Canonical SPDI:: NC_000006.12:31972678:G:A
Gene:: DXO (Varview), STK19 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31972679G>A, NC_000006.11:g.31940456G>A, NT_113891.3:g.3450106G>A, NT_113891.2:g.3450212G>A, NT_167248.2:g.3228649G>A, NT_167248.1:g.3234245G>A, NT_167245.2:g.3220454G>A, NT_167245.1:g.3226039G>A, NT_167249.2:g.3273868G>A, NT_167249.1:g.3273166G>A, NT_167247.2:g.3314715G>A, NT_167247.1:g.3320300G>A, NM_004197.2:c.159G>A, NM_004197.1:c.489G>A, NM_001136028.1:c.360G>A, NM_032454.1:c.489G>A, NR_026717.1:n.802G>A

Select item 148247287320.

rs1482472873 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:31970075 (GRCh38)
6:31937852 (GRCh37)
Canonical SPDI:: NC_000006.12:31970074:A:G
Gene:: DXO (Varview), SKIV2L (Varview), STK19 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.31970075A>G, NC_000006.11:g.31937852A>G, NG_032652.1:g.16272A>G, NT_113891.3:g.3447502A>G, NT_113891.2:g.3447608A>G, NT_167249.2:g.3271264A>G, NT_167249.1:g.3270562A>G, NT_167247.2:g.3312111A>G, NT_167247.1:g.3317696A>G, NT_167248.2:g.3226045A>G, NT_167248.1:g.3231641A>G, NT_167245.2:g.3217850A>G, NT_167245.1:g.3223435A>G

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