SNP Links for Nucleotide (Select 809279638) - SNP

Links from Nucleotide

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Select item 14890792641.

rs1489079264 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:3022841 (GRCh38)
16:3072842 (GRCh37)
Canonical SPDI:: NC_000016.10:3022840:G:T
Gene:: TNFRSF12A (Varview), HCFC1R1 (Varview), THOC6 (Varview)
Functional Consequence:: 500B_downstream_variant,2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant,downstream_transcript_variant
HGVS:: NC_000016.10:g.3022841G>T, NC_000016.9:g.3072842G>T, NG_052595.1:g.3823G>T, NM_017885.4:c.*22C>A, NM_017885.3:c.*22C>A, NM_017885.2:c.*22C>A, XM_011522559.4:c.*22C>A, XM_011522559.3:c.*22C>A, XM_011522559.2:c.*22C>A, XM_011522559.1:c.*22C>A, NM_001002017.2:c.*22C>A, NM_001002017.1:c.*22C>A, NM_001002018.2:c.*22C>A, NM_001002018.1:c.*22C>A, XM_017023384.2:c.*22C>A, XM_017023384.1:c.*22C>A, NM_001288667.1:c.*22C>A, NM_001288665.1:c.*22C>A, NM_001288668.1:c.*22C>A, NM_001288666.1:c.*22C>A, NM_001308070.1:c.*22C>A, XM_047434301.1:c.*22C>A

Select item 14888504072.

rs1488850407 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:3022738 (GRCh38)
16:3072739 (GRCh37)
Canonical SPDI:: NC_000016.10:3022737:G:A
Gene:: TNFRSF12A (Varview), HCFC1R1 (Varview), THOC6 (Varview)
Functional Consequence:: 500B_downstream_variant,2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.3022738G>A, NC_000016.9:g.3072739G>A, NG_052595.1:g.3720G>A, NM_017885.4:c.*125C>T, NM_017885.3:c.*125C>T, NM_017885.2:c.*125C>T, XM_011522559.4:c.*125C>T, XM_011522559.3:c.*125C>T, XM_011522559.2:c.*125C>T, XM_011522559.1:c.*125C>T, NM_001002017.2:c.*125C>T, NM_001002017.1:c.*125C>T, NM_001002018.2:c.*125C>T, NM_001002018.1:c.*125C>T, XM_017023384.2:c.*125C>T, XM_017023384.1:c.*125C>T, NM_001288667.1:c.*125C>T, NM_001288665.1:c.*125C>T, NM_001288668.1:c.*125C>T, NM_001288666.1:c.*125C>T, NM_001308070.1:c.*125C>T, XM_047434301.1:c.*125C>T

Select item 14797248153.

rs1479724815 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:3022630 (GRCh38)
16:3072631 (GRCh37)
Canonical SPDI:: NC_000016.10:3022629:T:C
Gene:: TNFRSF12A (Varview), HCFC1R1 (Varview), THOC6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.3022630T>C, NC_000016.9:g.3072631T>C, NG_052595.1:g.3612T>C, NM_017885.4:c.*233A>G, NM_017885.3:c.*233A>G, NM_017885.2:c.*233A>G, XM_011522559.4:c.*233A>G, XM_011522559.3:c.*233A>G, XM_011522559.2:c.*233A>G, XM_011522559.1:c.*233A>G, NM_001002017.2:c.*233A>G, NM_001002017.1:c.*233A>G, NM_001002018.2:c.*233A>G, NM_001002018.1:c.*233A>G, XM_017023384.2:c.*233A>G, XM_017023384.1:c.*233A>G, NM_001288667.1:c.*233A>G, NM_001288665.1:c.*233A>G, NM_001288668.1:c.*233A>G, NM_001288666.1:c.*233A>G, NM_001308070.1:c.*233A>G, XM_047434301.1:c.*233A>G

Select item 14784127774.

rs1478412777 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:3022813 (GRCh38)
16:3072814 (GRCh37)
Canonical SPDI:: NC_000016.10:3022812:C:G
Gene:: TNFRSF12A (Varview), HCFC1R1 (Varview), THOC6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.3022813C>G, NC_000016.9:g.3072814C>G, NG_052595.1:g.3795C>G, NM_017885.4:c.*50G>C, NM_017885.3:c.*50G>C, NM_017885.2:c.*50G>C, XM_011522559.4:c.*50G>C, XM_011522559.3:c.*50G>C, XM_011522559.2:c.*50G>C, XM_011522559.1:c.*50G>C, NM_001002017.2:c.*50G>C, NM_001002017.1:c.*50G>C, NM_001002018.2:c.*50G>C, NM_001002018.1:c.*50G>C, XM_017023384.2:c.*50G>C, XM_017023384.1:c.*50G>C, NM_001288667.1:c.*50G>C, NM_001288665.1:c.*50G>C, NM_001288668.1:c.*50G>C, NM_001288666.1:c.*50G>C, NM_001308070.1:c.*50G>C, XM_047434301.1:c.*50G>C

Select item 14733526475.

rs1473352647 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:3022911 (GRCh38)
16:3072912 (GRCh37)
Canonical SPDI:: NC_000016.10:3022910:G:A
Gene:: HCFC1R1 (Varview), THOC6 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant
HGVS:: NC_000016.10:g.3022911G>A, NC_000016.9:g.3072912G>A, NG_052595.1:g.3893G>A, NM_017885.4:c.369C>T, NM_017885.3:c.369C>T, NM_017885.2:c.369C>T, XM_011522559.4:c.180C>T, XM_011522559.3:c.180C>T, XM_011522559.2:c.180C>T, XM_011522559.1:c.180C>T, NM_001002017.2:c.312C>T, NM_001002017.1:c.312C>T, NM_001002018.2:c.369C>T, NM_001002018.1:c.369C>T, XM_017023384.2:c.363C>T, XM_017023384.1:c.363C>T, NM_001288667.1:c.363C>T, NM_001288665.1:c.369C>T, NM_001288668.1:c.180C>T, NM_001288666.1:c.312C>T, NM_001308070.1:c.249C>T, XM_047434301.1:c.180C>T

Select item 14694766046.

rs1469476604 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:3022966 (GRCh38)
16:3072967 (GRCh37)
Canonical SPDI:: NC_000016.10:3022965:T:C
Gene:: HCFC1R1 (Varview), THOC6 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.3022966T>C, NC_000016.9:g.3072967T>C, NG_052595.1:g.3948T>C, NM_017885.4:c.314A>G, NM_017885.3:c.314A>G, NM_017885.2:c.314A>G, XM_011522559.4:c.125A>G, XM_011522559.3:c.125A>G, XM_011522559.2:c.125A>G, XM_011522559.1:c.125A>G, NM_001002017.2:c.257A>G, NM_001002017.1:c.257A>G, NM_001002018.2:c.314A>G, NM_001002018.1:c.314A>G, XM_017023384.2:c.308A>G, XM_017023384.1:c.308A>G, NM_001288667.1:c.308A>G, NM_001288665.1:c.314A>G, NM_001288668.1:c.125A>G, NM_001288666.1:c.257A>G, NM_001308070.1:c.194A>G, XM_047434301.1:c.125A>G, NP_060355.1:p.Tyr105Cys, XP_011520861.1:p.Tyr42Cys, NP_001002017.1:p.Tyr86Cys, NP_001002018.1:p.Tyr105Cys, XP_016878873.1:p.Tyr103Cys, NP_001275596.1:p.Tyr103Cys, NP_001275594.1:p.Tyr105Cys, NP_001275597.1:p.Tyr42Cys, NP_001275595.1:p.Tyr86Cys, NP_001294999.1:p.Tyr65Cys, XP_047290257.1:p.Tyr42Cys

Select item 14670635557.

rs1467063555 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:3023238 (GRCh38)
16:3073239 (GRCh37)
Canonical SPDI:: NC_000016.10:3023237:T:C
Gene:: HCFC1R1 (Varview), THOC6 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.3023238T>C, NC_000016.9:g.3073239T>C, NG_052595.1:g.4220T>C, NM_017885.4:c.276A>G, NM_017885.3:c.276A>G, NM_017885.2:c.276A>G, XM_011522559.4:c.87A>G, XM_011522559.3:c.87A>G, XM_011522559.2:c.87A>G, XM_011522559.1:c.87A>G, NM_001002017.2:c.219A>G, NM_001002017.1:c.219A>G, NM_001002018.2:c.276A>G, NM_001002018.1:c.276A>G, XM_017023384.2:c.270A>G, XM_017023384.1:c.270A>G, NM_001288667.1:c.270A>G, NM_001288665.1:c.276A>G, NM_001288668.1:c.87A>G, NM_001288666.1:c.219A>G, NM_001308070.1:c.156A>G, XM_047434301.1:c.87A>G

Select item 14654725078.

rs1465472507 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:3023283 (GRCh38)
16:3073284 (GRCh37)
Canonical SPDI:: NC_000016.10:3023282:G:A
Gene:: HCFC1R1 (Varview), THOC6 (Varview)
Functional Consequence:: upstream_transcript_variant,synonymous_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000016.10:g.3023283G>A, NC_000016.9:g.3073284G>A, NG_052595.1:g.4265G>A, NM_017885.4:c.231C>T, NM_017885.3:c.231C>T, NM_017885.2:c.231C>T, XM_011522559.4:c.42C>T, XM_011522559.3:c.42C>T, XM_011522559.2:c.42C>T, XM_011522559.1:c.42C>T, NM_001002017.2:c.174C>T, NM_001002017.1:c.174C>T, NM_001002018.2:c.231C>T, NM_001002018.1:c.231C>T, XM_017023384.2:c.225C>T, XM_017023384.1:c.225C>T, NM_001288667.1:c.225C>T, NM_001288665.1:c.231C>T, NM_001288668.1:c.42C>T, NM_001288666.1:c.174C>T, NM_001308070.1:c.111C>T, XM_047434301.1:c.42C>T

Select item 14585767259.

rs1458576725 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:3022861 (GRCh38)
16:3072862 (GRCh37)
Canonical SPDI:: NC_000016.10:3022860:A:G
Gene:: TNFRSF12A (Varview), HCFC1R1 (Varview), THOC6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
HGVS:: NC_000016.10:g.3022861A>G, NC_000016.9:g.3072862A>G, NG_052595.1:g.3843A>G, NM_017885.4:c.*2T>C, NM_017885.3:c.*2T>C, NM_017885.2:c.*2T>C, XM_011522559.4:c.*2T>C, XM_011522559.3:c.*2T>C, XM_011522559.2:c.*2T>C, XM_011522559.1:c.*2T>C, NM_001002017.2:c.*2T>C, NM_001002017.1:c.*2T>C, NM_001002018.2:c.*2T>C, NM_001002018.1:c.*2T>C, XM_017023384.2:c.*2T>C, XM_017023384.1:c.*2T>C, NM_001288667.1:c.*2T>C, NM_001288665.1:c.*2T>C, NM_001288668.1:c.*2T>C, NM_001288666.1:c.*2T>C, NM_001308070.1:c.*2T>C, XM_047434301.1:c.*2T>C

Select item 145454321710.

rs1454543217 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:3023519 (GRCh38)
16:3073520 (GRCh37)
Canonical SPDI:: NC_000016.10:3023518:C:T
Gene:: HCFC1R1 (Varview), THOC6 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,intron_variant,upstream_transcript_variant,5_prime_UTR_variant,missense_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_000016.10:g.3023519C>T, NC_000016.9:g.3073520C>T, NG_052595.1:g.4501C>T, NM_017885.4:c.107G>A, NM_017885.3:c.107G>A, NM_017885.2:c.107G>A, NM_001002018.2:c.107G>A, NM_001002018.1:c.107G>A, NM_001288665.1:c.107G>A, NM_001288668.1:c.-195G>A, NM_001308070.1:c.-14G>A, NP_060355.1:p.Arg36Gln, NP_001002018.1:p.Arg36Gln, NP_001275594.1:p.Arg36Gln

Select item 145190949511.

rs1451909495 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:3022796 (GRCh38)
16:3072797 (GRCh37)
Canonical SPDI:: NC_000016.10:3022795:G:T
Gene:: TNFRSF12A (Varview), HCFC1R1 (Varview), THOC6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.3022796G>T, NC_000016.9:g.3072797G>T, NG_052595.1:g.3778G>T, NM_017885.4:c.*67C>A, NM_017885.3:c.*67C>A, NM_017885.2:c.*67C>A, XM_011522559.4:c.*67C>A, XM_011522559.3:c.*67C>A, XM_011522559.2:c.*67C>A, XM_011522559.1:c.*67C>A, NM_001002017.2:c.*67C>A, NM_001002017.1:c.*67C>A, NM_001002018.2:c.*67C>A, NM_001002018.1:c.*67C>A, XM_017023384.2:c.*67C>A, XM_017023384.1:c.*67C>A, NM_001288667.1:c.*67C>A, NM_001288665.1:c.*67C>A, NM_001288668.1:c.*67C>A, NM_001288666.1:c.*67C>A, NM_001308070.1:c.*67C>A, XM_047434301.1:c.*67C>A

Select item 145148325912.

rs1451483259 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:3024238 (GRCh38)
16:3074239 (GRCh37)
Canonical SPDI:: NC_000016.10:3024237:G:A
Gene:: HCFC1R1 (Varview), THOC6 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.3024238G>A, NC_000016.9:g.3074239G>A, NG_052595.1:g.5220G>A, NM_024339.5:c.-89G>A, NM_024339.4:c.-89G>A, NM_024339.3:c.-89G>A, NM_001142350.3:c.-89G>A, NM_001142350.2:c.-89G>A, NM_001142350.1:c.-89G>A, NM_001347704.2:c.-89G>A, NM_001347704.1:c.-89G>A, NM_001347703.2:c.-157G>A, NM_001347703.1:c.-157G>A, XM_011522559.4:c.-95C>T, XM_011522559.3:c.-95C>T, XM_011522559.2:c.-95C>T, XM_011522559.1:c.-95C>T, NM_017885.3:c.-297C>T, NM_017885.2:c.-297C>T, NM_001002017.2:c.-297C>T, NM_001002017.1:c.-297C>T, NM_001002018.2:c.-85C>T, NM_001002018.1:c.-85C>T, XM_017023384.2:c.-85C>T, XM_017023384.1:c.-85C>T, NM_001288667.1:c.-297C>T, NM_001288665.1:c.-218C>T, NM_001288668.1:c.-386C>T, NM_001288666.1:c.-85C>T, NM_001308070.1:c.-83C>T, XM_047434301.1:c.-146C>T

Select item 143710564413.

rs1437105644 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:3022866 (GRCh38)
16:3072867 (GRCh37)
Canonical SPDI:: NC_000016.10:3022865:G:C
Gene:: TNFRSF12A (Varview), HCFC1R1 (Varview), THOC6 (Varview)
Functional Consequence:: synonymous_variant,downstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000016.10:g.3022866G>C, NC_000016.9:g.3072867G>C, NG_052595.1:g.3848G>C, NM_017885.4:c.414C>G, NM_017885.3:c.414C>G, NM_017885.2:c.414C>G, XM_011522559.4:c.225C>G, XM_011522559.3:c.225C>G, XM_011522559.2:c.225C>G, XM_011522559.1:c.225C>G, NM_001002017.2:c.357C>G, NM_001002017.1:c.357C>G, NM_001002018.2:c.414C>G, NM_001002018.1:c.414C>G, XM_017023384.2:c.408C>G, XM_017023384.1:c.408C>G, NM_001288667.1:c.408C>G, NM_001288665.1:c.414C>G, NM_001288668.1:c.225C>G, NM_001288666.1:c.357C>G, NM_001308070.1:c.294C>G, XM_047434301.1:c.225C>G

Select item 143391044714.

rs1433910447 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:3022697 (GRCh38)
16:3072698 (GRCh37)
Canonical SPDI:: NC_000016.10:3022696:C:G,NC_000016.10:3022696:C:T
Gene:: TNFRSF12A (Varview), HCFC1R1 (Varview), THOC6 (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000021/3 (GnomAD)
HGVS:: NC_000016.10:g.3022697C>G, NC_000016.10:g.3022697C>T, NC_000016.9:g.3072698C>G, NC_000016.9:g.3072698C>T, NG_052595.1:g.3679C>G, NG_052595.1:g.3679C>T, NM_017885.4:c.*166G>C, NM_017885.4:c.*166G>A, NM_017885.3:c.*166G>C, NM_017885.3:c.*166G>A, NM_017885.2:c.*166G>C, NM_017885.2:c.*166G>A, XM_011522559.4:c.*166G>C, XM_011522559.4:c.*166G>A, XM_011522559.3:c.*166G>C, XM_011522559.3:c.*166G>A, XM_011522559.2:c.*166G>C, XM_011522559.2:c.*166G>A, XM_011522559.1:c.*166G>C, XM_011522559.1:c.*166G>A, NM_001002017.2:c.*166G>C, NM_001002017.2:c.*166G>A, NM_001002017.1:c.*166G>C, NM_001002017.1:c.*166G>A, NM_001002018.2:c.*166G>C, NM_001002018.2:c.*166G>A, NM_001002018.1:c.*166G>C, NM_001002018.1:c.*166G>A, XM_017023384.2:c.*166G>C, XM_017023384.2:c.*166G>A, XM_017023384.1:c.*166G>C, XM_017023384.1:c.*166G>A, NM_001288667.1:c.*166G>C, NM_001288667.1:c.*166G>A, NM_001288665.1:c.*166G>C, NM_001288665.1:c.*166G>A, NM_001288668.1:c.*166G>C, NM_001288668.1:c.*166G>A, NM_001288666.1:c.*166G>C, NM_001288666.1:c.*166G>A, NM_001308070.1:c.*166G>C, NM_001308070.1:c.*166G>A, XM_047434301.1:c.*166G>C, XM_047434301.1:c.*166G>A

Select item 143377188415.

rs1433771884 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:3024186 (GRCh38)
16:3074187 (GRCh37)
Canonical SPDI:: NC_000016.10:3024185:C:T
Gene:: HCFC1R1 (Varview), THOC6 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.3024186C>T, NC_000016.9:g.3074187C>T, NG_052595.1:g.5168C>T, NM_024339.5:c.-141C>T, NM_024339.4:c.-141C>T, NM_024339.3:c.-141C>T, NM_001142350.3:c.-141C>T, NM_001142350.2:c.-141C>T, NM_001142350.1:c.-141C>T, XM_011522559.4:c.-43G>A, XM_011522559.3:c.-43G>A, XM_011522559.2:c.-43G>A, XM_011522559.1:c.-43G>A, NM_017885.3:c.-245G>A, NM_017885.2:c.-245G>A, NM_001002017.2:c.-245G>A, NM_001002017.1:c.-245G>A, NM_001002018.2:c.-33G>A, NM_001002018.1:c.-33G>A, XM_017023384.2:c.-33G>A, XM_017023384.1:c.-33G>A, NM_001288667.1:c.-245G>A, NM_001288668.1:c.-334G>A, NM_001288666.1:c.-33G>A, NM_001308070.1:c.-31G>A, XM_047434301.1:c.-94G>A

Select item 143365771416.

rs1433657714 [Homo sapiens]

Variant type:: DELINS
Alleles:: AACCGCTCTAGGCACG>- [Show Flanks]
Chromosome:: 16:3024254 (GRCh38)
16:3074255 (GRCh37)
Canonical SPDI:: NC_000016.10:3024252:GAACCGCTCTAGGCACG:G
Gene:: HCFC1R1 (Varview), THOC6 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000034/9 (TOPMED)
HGVS:: NC_000016.10:g.3024254_3024269del, NC_000016.9:g.3074255_3074270del, NG_052595.1:g.5236_5251del, NM_024339.5:c.-73_-58del, NM_024339.4:c.-73_-58del, NM_024339.3:c.-73_-58del, NM_001142350.3:c.-73_-58del, NM_001142350.2:c.-73_-58del, NM_001142350.1:c.-73_-58del, NM_001347704.2:c.-73_-58del, NM_001347704.1:c.-73_-58del, NM_001347703.2:c.-141_-126del, NM_001347703.1:c.-141_-126del, XM_011522559.4:c.-125_-110del, XM_011522559.1:c.-125_-110del, NM_017885.3:c.-327_-312del, NM_017885.2:c.-327_-312del, NM_001002017.2:c.-327_-312del, NM_001002017.1:c.-327_-312del, NM_001002018.2:c.-115_-100del, NM_001002018.1:c.-115_-100del, XM_017023384.2:c.-115_-100del, XM_017023384.1:c.*4294966771_-114insCG, XM_017023384.1:c.-114_-101del, NM_001288667.1:c.-327_-312del, NM_001288665.1:c.-248_-233del, NM_001288668.1:c.-416_-401del, NM_001288666.1:c.-115_-100del, NM_001308070.1:c.-113_-98del, XM_047434301.1:c.-176_-161del

Select item 143295427917.

rs1432954279 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:3022991 (GRCh38)
16:3072992 (GRCh37)
Canonical SPDI:: NC_000016.10:3022990:A:G
Gene:: HCFC1R1 (Varview), THOC6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.3022991A>G, NC_000016.9:g.3072992A>G, NG_052595.1:g.3973A>G, NM_017885.4:c.289T>C, NM_017885.3:c.289T>C, NM_017885.2:c.289T>C, XM_011522559.4:c.100T>C, XM_011522559.3:c.100T>C, XM_011522559.2:c.100T>C, XM_011522559.1:c.100T>C, NM_001002017.2:c.232T>C, NM_001002017.1:c.232T>C, NM_001002018.2:c.289T>C, NM_001002018.1:c.289T>C, XM_017023384.2:c.283T>C, XM_017023384.1:c.283T>C, NM_001288667.1:c.283T>C, NM_001288665.1:c.289T>C, NM_001288668.1:c.100T>C, NM_001288666.1:c.232T>C, NM_001308070.1:c.169T>C, XM_047434301.1:c.100T>C, NP_060355.1:p.Cys97Arg, XP_011520861.1:p.Cys34Arg, NP_001002017.1:p.Cys78Arg, NP_001002018.1:p.Cys97Arg, XP_016878873.1:p.Cys95Arg, NP_001275596.1:p.Cys95Arg, NP_001275594.1:p.Cys97Arg, NP_001275597.1:p.Cys34Arg, NP_001275595.1:p.Cys78Arg, NP_001294999.1:p.Cys57Arg, XP_047290257.1:p.Cys34Arg

Select item 142565389918.

rs1425653899 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 16:3023302 (GRCh38)
16:3073303 (GRCh37)
Canonical SPDI:: NC_000016.10:3023300:GAG:G
Gene:: HCFC1R1 (Varview), THOC6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.3023302_3023303del, NC_000016.9:g.3073303_3073304del, NG_052595.1:g.4284_4285del, NM_017885.4:c.212_213del, NM_017885.3:c.212_213del, NM_017885.2:c.212_213del, XM_011522559.4:c.23_24del, XM_011522559.3:c.23_24del, XM_011522559.2:c.23_24del, XM_011522559.1:c.23_24del, NM_001002017.2:c.155_156del, NM_001002017.1:c.155_156del, NM_001002018.2:c.212_213del, NM_001002018.1:c.212_213del, XM_017023384.2:c.206_207del, XM_017023384.1:c.206_207del, NM_001288667.1:c.206_207del, NM_001288665.1:c.212_213del, NM_001288668.1:c.23_24del, NM_001288666.1:c.155_156del, NM_001308070.1:c.92_93del, XM_047434301.1:c.23_24del, NP_060355.1:p.Leu71fs, XP_011520861.1:p.Leu8fs, NP_001002017.1:p.Leu52fs, NP_001002018.1:p.Leu71fs, XP_016878873.1:p.Leu69fs, NP_001275596.1:p.Leu69fs, NP_001275594.1:p.Leu71fs, NP_001275597.1:p.Leu8fs, NP_001275595.1:p.Leu52fs, NP_001294999.1:p.Leu31fs, XP_047290257.1:p.Leu8fs

Select item 141751150619.

rs1417511506 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:3022718 (GRCh38)
16:3072719 (GRCh37)
Canonical SPDI:: NC_000016.10:3022717:G:C
Gene:: TNFRSF12A (Varview), HCFC1R1 (Varview), THOC6 (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000016.10:g.3022718G>C, NC_000016.9:g.3072719G>C, NG_052595.1:g.3700G>C, NM_017885.4:c.*145C>G, NM_017885.3:c.*145C>G, NM_017885.2:c.*145C>G, XM_011522559.4:c.*145C>G, XM_011522559.3:c.*145C>G, XM_011522559.2:c.*145C>G, XM_011522559.1:c.*145C>G, NM_001002017.2:c.*145C>G, NM_001002017.1:c.*145C>G, NM_001002018.2:c.*145C>G, NM_001002018.1:c.*145C>G, XM_017023384.2:c.*145C>G, XM_017023384.1:c.*145C>G, NM_001288667.1:c.*145C>G, NM_001288665.1:c.*145C>G, NM_001288668.1:c.*145C>G, NM_001288666.1:c.*145C>G, NM_001308070.1:c.*145C>G, XM_047434301.1:c.*145C>G

Select item 141718794720.

rs1417187947 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:3022980 (GRCh38)
16:3072981 (GRCh37)
Canonical SPDI:: NC_000016.10:3022979:C:T
Gene:: HCFC1R1 (Varview), THOC6 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.3022980C>T, NC_000016.9:g.3072981C>T, NG_052595.1:g.3962C>T, NM_017885.4:c.300G>A, NM_017885.3:c.300G>A, NM_017885.2:c.300G>A, XM_011522559.4:c.111G>A, XM_011522559.3:c.111G>A, XM_011522559.2:c.111G>A, XM_011522559.1:c.111G>A, NM_001002017.2:c.243G>A, NM_001002017.1:c.243G>A, NM_001002018.2:c.300G>A, NM_001002018.1:c.300G>A, XM_017023384.2:c.294G>A, XM_017023384.1:c.294G>A, NM_001288667.1:c.294G>A, NM_001288665.1:c.300G>A, NM_001288668.1:c.111G>A, NM_001288666.1:c.243G>A, NM_001308070.1:c.180G>A, XM_047434301.1:c.111G>A

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