SNP Links for Gene (Select 407002) - SNP

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Select item 14913900611.

rs1491390061 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 6:33205998 (GRCh38)
6:33173775 (GRCh37)
Canonical SPDI:: NC_000006.12:33205997:AA:
Gene:: HSD17B8 (Varview), MIR219A1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by cluster
HGVS:: NC_000006.12:g.33205998_33205999del, NC_000006.11:g.33173775_33173776del, NT_113891.3:g.4617499_4617500del, NT_113891.2:g.4617605_4617606del, NT_167248.2:g.4400406_4400407del, NT_167248.1:g.4406002_4406003del, NT_167245.2:g.4449497_4449498del, NT_167245.1:g.4455082_4455083del, NT_167246.2:g.4625475_4625476del, NT_167246.1:g.4631095_4631096del, NT_167247.2:g.4641951_4641952del, NT_167247.1:g.4647536_4647537del

Select item 14894838822.

rs1489483882 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 6:33208325 (GRCh38)
6:33176102 (GRCh37)
Canonical SPDI:: NC_000006.12:33208324:T:
Gene:: RING1 (Varview), MIR219A1 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.33208325del, NC_000006.11:g.33176102del, NT_113891.3:g.4619826del, NT_113891.2:g.4619932del, NT_167248.2:g.4402733del, NT_167248.1:g.4408329del, NT_167245.2:g.4451824del, NT_167245.1:g.4457409del, NT_167246.2:g.4627802del, NT_167246.1:g.4633422del, NT_167247.2:g.4644278del, NT_167247.1:g.4649863del

Select item 14888044163.

rs1488804416 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:33207521 (GRCh38)
6:33175298 (GRCh37)
Canonical SPDI:: NC_000006.12:33207520:C:T
Gene:: RING1 (Varview), MIR219A1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.33207521C>T, NC_000006.11:g.33175298C>T, NT_113891.3:g.4619022C>T, NT_113891.2:g.4619128C>T, NT_167248.2:g.4401929C>T, NT_167248.1:g.4407525C>T, NT_167245.2:g.4451020C>T, NT_167245.1:g.4456605C>T, NT_167246.2:g.4626998C>T, NT_167246.1:g.4632618C>T, NT_167247.2:g.4643474C>T, NT_167247.1:g.4649059C>T

Select item 14885615424.

rs1488561542 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:33207995 (GRCh38)
6:33175772 (GRCh37)
Canonical SPDI:: NC_000006.12:33207994:C:T
Gene:: RING1 (Varview), MIR219A1 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.33207995C>T, NC_000006.11:g.33175772C>T, NT_113891.3:g.4619496C>T, NT_113891.2:g.4619602C>T, NT_167248.2:g.4402403C>T, NT_167248.1:g.4407999C>T, NT_167245.2:g.4451494C>T, NT_167245.1:g.4457079C>T, NT_167246.2:g.4627472C>T, NT_167246.1:g.4633092C>T, NT_167247.2:g.4643948C>T, NT_167247.1:g.4649533C>T

Select item 14879760165.

rs1487976016 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:33205954 (GRCh38)
6:33173731 (GRCh37)
Canonical SPDI:: NC_000006.12:33205953:A:C
Gene:: HSD17B8 (Varview), MIR219A1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000022/3 (GnomAD)
HGVS:: NC_000006.12:g.33205954A>C, NC_000006.11:g.33173731A>C, NT_113891.3:g.4617459A>C, NT_113891.2:g.4617565A>C, NT_167248.2:g.4400358A>C, NT_167248.1:g.4405954A>C, NT_167245.2:g.4449453A>C, NT_167245.1:g.4455038A>C, NT_167246.2:g.4625427A>C, NT_167246.1:g.4631047A>C, NT_167247.2:g.4641907A>C, NT_167247.1:g.4647492A>C

Select item 14851211296.

rs1485121129 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:33205897 (GRCh38)
6:33173674 (GRCh37)
Canonical SPDI:: NC_000006.12:33205896:G:A
Gene:: HSD17B8 (Varview), MIR219A1 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_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_000006.12:g.33205897G>A, NC_000006.11:g.33173674G>A, NT_113891.3:g.4617402G>A, NT_113891.2:g.4617508G>A, NT_167248.2:g.4400301G>A, NT_167248.1:g.4405897G>A, NT_167245.2:g.4449396G>A, NT_167245.1:g.4454981G>A, NT_167246.2:g.4625370G>A, NT_167246.1:g.4630990G>A, NT_167247.2:g.4641850G>A, NT_167247.1:g.4647435G>A, NM_014234.5:c.636G>A, NM_014234.4:c.636G>A

Select item 14840673077.

rs1484067307 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:33208419 (GRCh38)
6:33176196 (GRCh37)
Canonical SPDI:: NC_000006.12:33208418:G:A,NC_000006.12:33208418:G:C
Gene:: RING1 (Varview), MIR219A1 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000156/1 (1000Genomes)
HGVS:: NC_000006.12:g.33208419G>A, NC_000006.12:g.33208419G>C, NC_000006.11:g.33176196G>A, NC_000006.11:g.33176196G>C, NT_113891.3:g.4619920G>A, NT_113891.3:g.4619920G>C, NT_113891.2:g.4620026G>A, NT_113891.2:g.4620026G>C, NT_167248.2:g.4402827G>A, NT_167248.2:g.4402827G>C, NT_167248.1:g.4408423G>A, NT_167248.1:g.4408423G>C, NT_167245.2:g.4451918G>A, NT_167245.2:g.4451918G>C, NT_167245.1:g.4457503G>A, NT_167245.1:g.4457503G>C, NT_167246.2:g.4627896G>A, NT_167246.2:g.4627896G>C, NT_167246.1:g.4633516G>A, NT_167246.1:g.4633516G>C, NT_167247.2:g.4644372G>A, NT_167247.2:g.4644372G>C, NT_167247.1:g.4649957G>A, NT_167247.1:g.4649957G>C

Select item 14839324468.

rs1483932446 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 6:33207304 (GRCh38)
6:33175081 (GRCh37)
Canonical SPDI:: NC_000006.12:33207303:G:C,NC_000006.12:33207303:G:T
Gene:: RING1 (Varview), HSD17B8 (Varview), MIR219A1 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.33207304G>C, NC_000006.12:g.33207304G>T, NC_000006.11:g.33175081G>C, NC_000006.11:g.33175081G>T, NT_113891.3:g.4618805G>C, NT_113891.3:g.4618805G>T, NT_113891.2:g.4618911G>C, NT_113891.2:g.4618911G>T, NT_167248.2:g.4401712G>C, NT_167248.2:g.4401712G>T, NT_167248.1:g.4407308G>C, NT_167248.1:g.4407308G>T, NT_167245.2:g.4450803G>C, NT_167245.2:g.4450803G>T, NT_167245.1:g.4456388G>C, NT_167245.1:g.4456388G>T, NT_167246.2:g.4626781G>C, NT_167246.2:g.4626781G>T, NT_167246.1:g.4632401G>C, NT_167246.1:g.4632401G>T, NT_167247.2:g.4643257G>C, NT_167247.2:g.4643257G>T, NT_167247.1:g.4648842G>C, NT_167247.1:g.4648842G>T

Select item 14817955829.

rs1481795582 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:33206134 (GRCh38)
6:33173911 (GRCh37)
Canonical SPDI:: NC_000006.12:33206133:A:G
Gene:: HSD17B8 (Varview), MIR219A1 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33206134A>G, NC_000006.11:g.33173911A>G, NT_113891.3:g.4617635A>G, NT_113891.2:g.4617741A>G, NT_167248.2:g.4400542A>G, NT_167248.1:g.4406138A>G, NT_167245.2:g.4449633A>G, NT_167245.1:g.4455218A>G, NT_167246.2:g.4625611A>G, NT_167246.1:g.4631231A>G, NT_167247.2:g.4642087A>G, NT_167247.1:g.4647672A>G, NM_014234.5:c.652A>G, NM_014234.4:c.652A>G, NP_055049.1:p.Ile218Val

Select item 147936651810.

rs1479366518 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:33206109 (GRCh38)
6:33173886 (GRCh37)
Canonical SPDI:: NC_000006.12:33206108:C:T
Gene:: HSD17B8 (Varview), MIR219A1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.33206109C>T, NC_000006.11:g.33173886C>T, NT_113891.3:g.4617610C>T, NT_113891.2:g.4617716C>T, NT_167248.2:g.4400517C>T, NT_167248.1:g.4406113C>T, NT_167245.2:g.4449608C>T, NT_167245.1:g.4455193C>T, NT_167246.2:g.4625586C>T, NT_167246.1:g.4631206C>T, NT_167247.2:g.4642062C>T, NT_167247.1:g.4647647C>T

Select item 147919762511.

rs1479197625 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:33208165 (GRCh38)
6:33175942 (GRCh37)
Canonical SPDI:: NC_000006.12:33208164:G:A
Gene:: RING1 (Varview), MIR219A1 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.33208165G>A, NC_000006.11:g.33175942G>A, NT_113891.3:g.4619666G>A, NT_113891.2:g.4619772G>A, NT_167248.2:g.4402573G>A, NT_167248.1:g.4408169G>A, NT_167245.2:g.4451664G>A, NT_167245.1:g.4457249G>A, NT_167246.2:g.4627642G>A, NT_167246.1:g.4633262G>A, NT_167247.2:g.4644118G>A, NT_167247.1:g.4649703G>A

Select item 147815382512.

rs1478153825 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:33206816 (GRCh38)
6:33174593 (GRCh37)
Canonical SPDI:: NC_000006.12:33206815:G:A
Gene:: RING1 (Varview), HSD17B8 (Varview), MIR219A1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.33206816G>A, NC_000006.11:g.33174593G>A, NT_113891.3:g.4618317G>A, NT_113891.2:g.4618423G>A, NT_167248.2:g.4401224G>A, NT_167248.1:g.4406820G>A, NT_167245.2:g.4450315G>A, NT_167245.1:g.4455900G>A, NT_167246.2:g.4626293G>A, NT_167246.1:g.4631913G>A, NT_167247.2:g.4642769G>A, NT_167247.1:g.4648354G>A, NM_014234.5:c.*162G>A, NM_014234.4:c.*162G>A

Select item 147713260813.

rs1477132608 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:33208276 (GRCh38)
6:33176053 (GRCh37)
Canonical SPDI:: NC_000006.12:33208275:G:A
Gene:: RING1 (Varview), MIR219A1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
HGVS:: NC_000006.12:g.33208276G>A, NC_000006.11:g.33176053G>A, NT_113891.3:g.4619777G>A, NT_113891.2:g.4619883G>A, NT_167248.2:g.4402684G>A, NT_167248.1:g.4408280G>A, NT_167245.2:g.4451775G>A, NT_167245.1:g.4457360G>A, NT_167246.2:g.4627753G>A, NT_167246.1:g.4633373G>A, NT_167247.2:g.4644229G>A, NT_167247.1:g.4649814G>A

Select item 147707434714.

rs1477074347 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:33206602 (GRCh38)
6:33174379 (GRCh37)
Canonical SPDI:: NC_000006.12:33206601:C:A,NC_000006.12:33206601:C:T
Gene:: RING1 (Varview), HSD17B8 (Varview), MIR219A1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.33206602C>A, NC_000006.12:g.33206602C>T, NC_000006.11:g.33174379C>A, NC_000006.11:g.33174379C>T, NT_113891.3:g.4618103C>A, NT_113891.3:g.4618103C>T, NT_113891.2:g.4618209C>A, NT_113891.2:g.4618209C>T, NT_167248.2:g.4401010C>A, NT_167248.2:g.4401010C>T, NT_167248.1:g.4406606C>A, NT_167248.1:g.4406606C>T, NT_167245.2:g.4450101C>A, NT_167245.2:g.4450101C>T, NT_167245.1:g.4455686C>A, NT_167245.1:g.4455686C>T, NT_167246.2:g.4626079C>A, NT_167246.2:g.4626079C>T, NT_167246.1:g.4631699C>A, NT_167246.1:g.4631699C>T, NT_167247.2:g.4642555C>A, NT_167247.2:g.4642555C>T, NT_167247.1:g.4648140C>A, NT_167247.1:g.4648140C>T

Select item 147513664115.

rs1475136641 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:33208409 (GRCh38)
6:33176186 (GRCh37)
Canonical SPDI:: NC_000006.12:33208408:T:C
Gene:: RING1 (Varview), MIR219A1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.33208409T>C, NC_000006.11:g.33176186T>C, NT_113891.3:g.4619910T>C, NT_113891.2:g.4620016T>C, NT_167248.2:g.4402817T>C, NT_167248.1:g.4408413T>C, NT_167245.2:g.4451908T>C, NT_167245.1:g.4457493T>C, NT_167246.2:g.4627886T>C, NT_167246.1:g.4633506T>C, NT_167247.2:g.4644362T>C, NT_167247.1:g.4649947T>C

Select item 147503672616.

rs1475036726 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:33207365 (GRCh38)
6:33175142 (GRCh37)
Canonical SPDI:: NC_000006.12:33207364:C:T
Gene:: RING1 (Varview), MIR219A1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.33207365C>T, NC_000006.11:g.33175142C>T, NT_113891.3:g.4618866C>T, NT_113891.2:g.4618972C>T, NT_167248.2:g.4401773C>T, NT_167248.1:g.4407369C>T, NT_167245.2:g.4450864C>T, NT_167245.1:g.4456449C>T, NT_167246.2:g.4626842C>T, NT_167246.1:g.4632462C>T, NT_167247.2:g.4643318C>T, NT_167247.1:g.4648903C>T

Select item 147462469317.

rs1474624693 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:33207198 (GRCh38)
6:33174975 (GRCh37)
Canonical SPDI:: NC_000006.12:33207197:C:T
Gene:: RING1 (Varview), HSD17B8 (Varview), MIR219A1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_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_000006.12:g.33207198C>T, NC_000006.11:g.33174975C>T, NT_113891.3:g.4618699C>T, NT_113891.2:g.4618805C>T, NT_167248.2:g.4401606C>T, NT_167248.1:g.4407202C>T, NT_167245.2:g.4450697C>T, NT_167245.1:g.4456282C>T, NT_167246.2:g.4626675C>T, NT_167246.1:g.4632295C>T, NT_167247.2:g.4643151C>T, NT_167247.1:g.4648736C>T

Select item 147266583418.

rs1472665834 has merged into rs3066410 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGAGAGAGAGA>-,GA,GAGA,GAGAGA,GAGAGAGA,GAGAGAGAGA,GAGAGAGAGAGAGA,GAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA [Show Flanks]
Chromosome:: 6:33205987 (GRCh38)
6:33173764 (GRCh37)
Canonical SPDI:: NC_000006.12:33205971:AGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGA,NC_000006.12:33205971:AGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGA,NC_000006.12:33205971:AGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGA,NC_000006.12:33205971:AGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGA,NC_000006.12:33205971:AGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGA,NC_000006.12:33205971:AGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGA,NC_000006.12:33205971:AGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000006.12:33205971:AGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000006.12:33205971:AGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000006.12:33205971:AGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000006.12:33205971:AGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000006.12:33205971:AGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000006.12:33205971:AGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000006.12:33205971:AGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000006.12:33205971:AGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000006.12:33205971:AGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000006.12:33205971:AGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000006.12:33205971:AGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA
Gene:: HSD17B8 (Varview), MIR219A1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGAGAGAGA=0./0 (ALFA)
HGVS:: NC_000006.12:g.33205973GA[7], NC_000006.12:g.33205973GA[8], NC_000006.12:g.33205973GA[9], NC_000006.12:g.33205973GA[10], NC_000006.12:g.33205973GA[11], NC_000006.12:g.33205973GA[12], NC_000006.12:g.33205973GA[14], NC_000006.12:g.33205973GA[15], NC_000006.12:g.33205973GA[16], NC_000006.12:g.33205973GA[17], NC_000006.12:g.33205973GA[18], NC_000006.12:g.33205973GA[19], NC_000006.12:g.33205973GA[20], NC_000006.12:g.33205973GA[21], NC_000006.12:g.33205973GA[22], NC_000006.12:g.33205973GA[23], NC_000006.12:g.33205973GA[25], NC_000006.12:g.33205973GA[26], NC_000006.11:g.33173750GA[7], NC_000006.11:g.33173750GA[8], NC_000006.11:g.33173750GA[9], NC_000006.11:g.33173750GA[10], NC_000006.11:g.33173750GA[11], NC_000006.11:g.33173750GA[12], NC_000006.11:g.33173750GA[14], NC_000006.11:g.33173750GA[15], NC_000006.11:g.33173750GA[16], NC_000006.11:g.33173750GA[17], NC_000006.11:g.33173750GA[18], NC_000006.11:g.33173750GA[19], NC_000006.11:g.33173750GA[20], NC_000006.11:g.33173750GA[21], NC_000006.11:g.33173750GA[22], NC_000006.11:g.33173750GA[23], NC_000006.11:g.33173750GA[25], NC_000006.11:g.33173750GA[26], NT_113891.3:g.4617478GA[13], NT_113891.3:g.4617478GA[7], NT_113891.3:g.4617478GA[8], NT_113891.3:g.4617478GA[9], NT_113891.3:g.4617478GA[10], NT_113891.3:g.4617478GA[12], NT_113891.3:g.4617478GA[14], NT_113891.3:g.4617478GA[15], NT_113891.3:g.4617478GA[16], NT_113891.3:g.4617478GA[17], NT_113891.3:g.4617478GA[18], NT_113891.3:g.4617478GA[19], NT_113891.3:g.4617478GA[20], NT_113891.3:g.4617478GA[21], NT_113891.3:g.4617478GA[22], NT_113891.3:g.4617478GA[23], NT_113891.3:g.4617478GA[25], NT_113891.3:g.4617478GA[26], NT_167248.2:g.4400377GA[9], NT_167248.2:g.4400377GA[10], NT_167248.2:g.4400377GA[11], NT_167248.2:g.4400377GA[12], NT_167248.2:g.4400377GA[13], NT_167248.2:g.4400377GA[14], NT_167248.2:g.4400377GA[16], NT_167248.2:g.4400377GA[17], NT_167248.2:g.4400377GA[18], NT_167248.2:g.4400377GA[19], NT_167248.2:g.4400377GA[20], NT_167248.2:g.4400377GA[21], NT_167248.2:g.4400377GA[22], NT_167248.2:g.4400377GA[23], NT_167248.2:g.4400377GA[24], NT_167248.2:g.4400377GA[25], NT_167248.2:g.4400377GA[27], NT_167248.2:g.4400377GA[28], NT_167248.1:g.4405973GA[9], NT_167248.1:g.4405973GA[10], NT_167248.1:g.4405973GA[11], NT_167248.1:g.4405973GA[12], NT_167248.1:g.4405973GA[13], NT_167248.1:g.4405973GA[14], NT_167248.1:g.4405973GA[16], NT_167248.1:g.4405973GA[17], NT_167248.1:g.4405973GA[18], NT_167248.1:g.4405973GA[19], NT_167248.1:g.4405973GA[20], NT_167248.1:g.4405973GA[21], NT_167248.1:g.4405973GA[22], NT_167248.1:g.4405973GA[23], NT_167248.1:g.4405973GA[24], NT_167248.1:g.4405973GA[25], NT_167248.1:g.4405973GA[27], NT_167248.1:g.4405973GA[28], NT_167245.2:g.4449472GA[7], NT_167245.2:g.4449472GA[8], NT_167245.2:g.4449472GA[9], NT_167245.2:g.4449472GA[10], NT_167245.2:g.4449472GA[11], NT_167245.2:g.4449472GA[12], NT_167245.2:g.4449472GA[14], NT_167245.2:g.4449472GA[15], NT_167245.2:g.4449472GA[16], NT_167245.2:g.4449472GA[17], NT_167245.2:g.4449472GA[18], NT_167245.2:g.4449472GA[19], NT_167245.2:g.4449472GA[20], NT_167245.2:g.4449472GA[21], NT_167245.2:g.4449472GA[22], NT_167245.2:g.4449472GA[23], NT_167245.2:g.4449472GA[25], NT_167245.2:g.4449472GA[26], NT_167245.1:g.4455057GA[7], NT_167245.1:g.4455057GA[8], NT_167245.1:g.4455057GA[9], NT_167245.1:g.4455057GA[10], NT_167245.1:g.4455057GA[11], NT_167245.1:g.4455057GA[12], NT_167245.1:g.4455057GA[14], NT_167245.1:g.4455057GA[15], NT_167245.1:g.4455057GA[16], NT_167245.1:g.4455057GA[17], NT_167245.1:g.4455057GA[18], NT_167245.1:g.4455057GA[19], NT_167245.1:g.4455057GA[20], NT_167245.1:g.4455057GA[21], NT_167245.1:g.4455057GA[22], NT_167245.1:g.4455057GA[23], NT_167245.1:g.4455057GA[25], NT_167245.1:g.4455057GA[26], NT_167246.2:g.4625446GA[9], NT_167246.2:g.4625446GA[10], NT_167246.2:g.4625446GA[11], NT_167246.2:g.4625446GA[12], NT_167246.2:g.4625446GA[13], NT_167246.2:g.4625446GA[14], NT_167246.2:g.4625446GA[16], NT_167246.2:g.4625446GA[17], NT_167246.2:g.4625446GA[18], NT_167246.2:g.4625446GA[19], NT_167246.2:g.4625446GA[20], NT_167246.2:g.4625446GA[21], NT_167246.2:g.4625446GA[22], NT_167246.2:g.4625446GA[23], NT_167246.2:g.4625446GA[24], NT_167246.2:g.4625446GA[25], NT_167246.2:g.4625446GA[27], NT_167246.2:g.4625446GA[28], NT_167246.1:g.4631066GA[9], NT_167246.1:g.4631066GA[10], NT_167246.1:g.4631066GA[11], NT_167246.1:g.4631066GA[12], NT_167246.1:g.4631066GA[13], NT_167246.1:g.4631066GA[14], NT_167246.1:g.4631066GA[16], NT_167246.1:g.4631066GA[17], NT_167246.1:g.4631066GA[18], NT_167246.1:g.4631066GA[19], NT_167246.1:g.4631066GA[20], NT_167246.1:g.4631066GA[21], NT_167246.1:g.4631066GA[22], NT_167246.1:g.4631066GA[23], NT_167246.1:g.4631066GA[24], NT_167246.1:g.4631066GA[25], NT_167246.1:g.4631066GA[27], NT_167246.1:g.4631066GA[28], NT_167247.2:g.4641926GA[7], NT_167247.2:g.4641926GA[8], NT_167247.2:g.4641926GA[9], NT_167247.2:g.4641926GA[10], NT_167247.2:g.4641926GA[11], NT_167247.2:g.4641926GA[12], NT_167247.2:g.4641926GA[14], NT_167247.2:g.4641926GA[15], NT_167247.2:g.4641926GA[16], NT_167247.2:g.4641926GA[17], NT_167247.2:g.4641926GA[18], NT_167247.2:g.4641926GA[19], NT_167247.2:g.4641926GA[20], NT_167247.2:g.4641926GA[21], NT_167247.2:g.4641926GA[22], NT_167247.2:g.4641926GA[23], NT_167247.2:g.4641926GA[25], NT_167247.2:g.4641926GA[26], NT_167247.1:g.4647511GA[7], NT_167247.1:g.4647511GA[8], NT_167247.1:g.4647511GA[9], NT_167247.1:g.4647511GA[10], NT_167247.1:g.4647511GA[11], NT_167247.1:g.4647511GA[12], NT_167247.1:g.4647511GA[14], NT_167247.1:g.4647511GA[15], NT_167247.1:g.4647511GA[16], NT_167247.1:g.4647511GA[17], NT_167247.1:g.4647511GA[18], NT_167247.1:g.4647511GA[19], NT_167247.1:g.4647511GA[20], NT_167247.1:g.4647511GA[21], NT_167247.1:g.4647511GA[22], NT_167247.1:g.4647511GA[23], NT_167247.1:g.4647511GA[25], NT_167247.1:g.4647511GA[26], NT_113891.2:g.4617584GA[13], NT_113891.2:g.4617584GA[7], NT_113891.2:g.4617584GA[8], NT_113891.2:g.4617584GA[9], NT_113891.2:g.4617584GA[10], NT_113891.2:g.4617584GA[12], NT_113891.2:g.4617584GA[14], NT_113891.2:g.4617584GA[15], NT_113891.2:g.4617584GA[16], NT_113891.2:g.4617584GA[17], NT_113891.2:g.4617584GA[18], NT_113891.2:g.4617584GA[19], NT_113891.2:g.4617584GA[20], NT_113891.2:g.4617584GA[21], NT_113891.2:g.4617584GA[22], NT_113891.2:g.4617584GA[23], NT_113891.2:g.4617584GA[25], NT_113891.2:g.4617584GA[26]

Select item 147154647019.

rs1471546470 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:33205961 (GRCh38)
6:33173738 (GRCh37)
Canonical SPDI:: NC_000006.12:33205960:C:A
Gene:: HSD17B8 (Varview), MIR219A1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33205961C>A, NC_000006.11:g.33173738C>A, NT_113891.3:g.4617466C>A, NT_113891.2:g.4617572C>A, NT_167248.2:g.4400365C>A, NT_167248.1:g.4405961C>A, NT_167245.2:g.4449460C>A, NT_167245.1:g.4455045C>A, NT_167246.2:g.4625434C>A, NT_167246.1:g.4631054C>A, NT_167247.2:g.4641914C>A, NT_167247.1:g.4647499C>A

Select item 146996140620.

rs1469961406 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:33207113 (GRCh38)
6:33174890 (GRCh37)
Canonical SPDI:: NC_000006.12:33207112:C:T
Gene:: RING1 (Varview), HSD17B8 (Varview), MIR219A1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_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_000006.12:g.33207113C>T, NC_000006.11:g.33174890C>T, NT_113891.3:g.4618614C>T, NT_113891.2:g.4618720C>T, NT_167248.2:g.4401521C>T, NT_167248.1:g.4407117C>T, NT_167245.2:g.4450612C>T, NT_167245.1:g.4456197C>T, NT_167246.2:g.4626590C>T, NT_167246.1:g.4632210C>T, NT_167247.2:g.4643066C>T, NT_167247.1:g.4648651C>T

dbSNP

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Global MAF

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