SNP Links for Nucleotide (Select 323510685) - SNP

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 20:63690946 (GRCh38)
20:62322300 (GRCh37)
Canonical SPDI:: NC_000020.11:63690946:GG:GGG
Gene:: RTEL1 (Varview), RTEL1-TNFRSF6B (Varview)
Functional Consequence:: splice_donor_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.63690948dup, NC_000020.10:g.62322301dup, NG_033901.1:g.38139dup

Select item 14885302718.

rs1488530271 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:63697449 (GRCh38)
20:62328802 (GRCh37)
Canonical SPDI:: NC_000020.11:63697448:T:C
Gene:: TNFRSF6B (Varview), RTEL1-TNFRSF6B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.63697449T>C, NC_000020.10:g.62328802T>C, NG_033901.1:g.44640T>C, NG_046961.1:g.5799T>C, NM_003823.4:c.546T>C, NM_003823.3:c.546T>C, NM_032945.2:c.546T>C, NR_037882.1:n.5280T>C, NM_032945.1:c.546T>C

Select item 14880540269.

rs1488054026 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:63657956 (GRCh38)
20:62289309 (GRCh37)
Canonical SPDI:: NC_000020.11:63657955:G:A
Gene:: RTEL1 (Varview), RTEL1-TNFRSF6B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000020.11:g.63657956G>A, NC_000020.10:g.62289309G>A, NG_033901.1:g.5147G>A, NM_001283010.1:c.-1071G>A, NM_032957.4:c.-681G>A, NM_016434.3:c.-681G>A, NR_037882.1:n.147G>A, NM_001283009.1:c.-681G>A

Select item 148790661910.

rs1487906619 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:63695138 (GRCh38)
20:62326491 (GRCh37)
Canonical SPDI:: NC_000020.11:63695137:C:T
Gene:: TNFRSF6B (Varview), RTEL1 (Varview), RTEL1-TNFRSF6B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000020.11:g.63695138C>T, NC_000020.10:g.62326491C>T, NG_033901.1:g.42329C>T, NM_032957.5:c.3488C>T, NM_032957.4:c.3488C>T, NM_016434.4:c.3416C>T, NM_016434.3:c.3416C>T, NM_001283009.2:c.3416C>T, NM_001283009.1:c.3416C>T, NM_001283010.1:c.2747C>T, NG_046961.1:g.3488C>T, NM_015647.2:c.1151C>T, NM_032945.2:c.-322C>T, NR_037882.1:n.4243C>T, NM_015647.1:c.1151C>T, NM_032945.1:c.-322C>T, NP_116575.3:p.Pro1163Leu, NP_057518.1:p.Pro1139Leu, NP_001269938.1:p.Pro1139Leu, NP_001269939.1:p.Pro916Leu

Select item 148747844411.

rs1487478444 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:63658003 (GRCh38)
20:62289356 (GRCh37)
Canonical SPDI:: NC_000020.11:63658002:C:G
Gene:: RTEL1 (Varview), RTEL1-TNFRSF6B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.63658003C>G, NC_000020.10:g.62289356C>G, NG_033901.1:g.5194C>G, NM_001283010.1:c.-1024C>G, NM_032957.4:c.-634C>G, NM_016434.3:c.-634C>G, NR_037882.1:n.194C>G, NM_001283009.1:c.-634C>G

Select item 148706830112.

rs1487068301 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:63688353 (GRCh38)
20:62319706 (GRCh37)
Canonical SPDI:: NC_000020.11:63688352:T:C
Gene:: RTEL1 (Varview), RTEL1-TNFRSF6B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000020.11:g.63688353T>C, NC_000020.10:g.62319706T>C, NG_033901.1:g.35544T>C, NM_032957.5:c.1761T>C, NM_032957.4:c.1761T>C, NM_016434.4:c.1689T>C, NM_016434.3:c.1689T>C, NM_001283009.2:c.1689T>C, NM_001283009.1:c.1689T>C, NM_001283010.1:c.1020T>C, NR_037882.1:n.2516T>C

Select item 148683758913.

rs1486837589 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:63698486 (GRCh38)
20:62329839 (GRCh37)
Canonical SPDI:: NC_000020.11:63698485:C:G
Gene:: TNFRSF6B (Varview), ARFRP1 (Varview), RTEL1-TNFRSF6B (Varview)
Functional Consequence:: missense_variant,downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000156/1 (1000Genomes)
HGVS:: NC_000020.11:g.63698486C>G, NC_000020.10:g.62329839C>G, NG_046961.1:g.6836C>G, NM_003823.4:c.826C>G, NM_003823.3:c.826C>G, NM_032945.2:c.826C>G, NR_037882.1:n.5560C>G, NM_032945.1:c.826C>G, NP_003814.1:p.Leu276Val

Select item 148652895214.

rs1486528952 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:63674085 (GRCh38)
20:62305438 (GRCh37)
Canonical SPDI:: NC_000020.11:63674084:C:T
Gene:: RTEL1 (Varview), RTEL1-TNFRSF6B (Varview), LOC124904954 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
HGVS:: NC_000020.11:g.63674085C>T, NC_000020.10:g.62305438C>T, NG_033901.1:g.21276C>T, NM_032957.5:c.983C>T, NM_032957.4:c.983C>T, NM_016434.4:c.911C>T, NM_016434.3:c.911C>T, NM_001283009.2:c.911C>T, NM_001283009.1:c.911C>T, NM_001283010.1:c.242C>T, NR_037882.1:n.1738C>T, NP_116575.3:p.Pro328Leu, NP_057518.1:p.Pro304Leu, NP_001269938.1:p.Pro304Leu, NP_001269939.1:p.Pro81Leu

Select item 148642757715.

rs1486427577 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 20:63672578 (GRCh38)
20:62303931 (GRCh37)
Canonical SPDI:: NC_000020.11:63672577:A:T
Gene:: RTEL1 (Varview), RTEL1-TNFRSF6B (Varview), LOC124904954 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.00001/2 (GnomAD_exomes)
HGVS:: NC_000020.11:g.63672578A>T, NC_000020.10:g.62303931A>T, NG_033901.1:g.19769A>T, NM_032957.5:c.794A>T, NM_032957.4:c.794A>T, NM_016434.4:c.722A>T, NM_016434.3:c.722A>T, NM_001283009.2:c.722A>T, NM_001283009.1:c.722A>T, NM_001283010.1:c.53A>T, NR_037882.1:n.1549A>T, NP_116575.3:p.Asp265Val, NP_057518.1:p.Asp241Val, NP_001269938.1:p.Asp241Val, NP_001269939.1:p.Asp18Val

Select item 148618084216.

rs1486180842 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 20:63685793 (GRCh38)
20:62317146 (GRCh37)
Canonical SPDI:: NC_000020.11:63685792:G:A,NC_000020.11:63685792:G:C
Gene:: RTEL1 (Varview), RTEL1-TNFRSF6B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.63685793G>A, NC_000020.11:g.63685793G>C, NC_000020.10:g.62317146G>A, NC_000020.10:g.62317146G>C, NG_033901.1:g.32984G>A, NG_033901.1:g.32984G>C, NM_032957.5:c.1341G>A, NM_032957.5:c.1341G>C, NM_032957.4:c.1341G>A, NM_032957.4:c.1341G>C, NM_016434.4:c.1269G>A, NM_016434.4:c.1269G>C, NM_016434.3:c.1269G>A, NM_016434.3:c.1269G>C, NM_001283009.2:c.1269G>A, NM_001283009.2:c.1269G>C, NM_001283009.1:c.1269G>A, NM_001283009.1:c.1269G>C, NM_001283010.1:c.600G>A, NM_001283010.1:c.600G>C, NR_037882.1:n.2096G>A, NR_037882.1:n.2096G>C

Select item 148615396917.

rs1486153969 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:63692922 (GRCh38)
20:62324275 (GRCh37)
Canonical SPDI:: NC_000020.11:63692921:G:A
Gene:: RTEL1 (Varview), RTEL1-TNFRSF6B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.63692922G>A, NC_000020.10:g.62324275G>A, NG_033901.1:g.40113G>A, NM_032957.5:c.2842G>A, NM_032957.4:c.2842G>A, NM_016434.4:c.2770G>A, NM_016434.3:c.2770G>A, NM_001283009.2:c.2770G>A, NM_001283009.1:c.2770G>A, NM_001283010.1:c.2101G>A, NG_046961.1:g.1272G>A, NM_015647.2:c.505G>A, NR_037882.1:n.3597G>A, NM_015647.1:c.505G>A, NP_116575.3:p.Gly948Ser, NP_057518.1:p.Gly924Ser, NP_001269938.1:p.Gly924Ser, NP_001269939.1:p.Gly701Ser

Select item 148518770218.

rs1485187702 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:63674025 (GRCh38)
20:62305378 (GRCh37)
Canonical SPDI:: NC_000020.11:63674024:A:G
Gene:: RTEL1 (Varview), RTEL1-TNFRSF6B (Varview), LOC124904954 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.63674025A>G, NC_000020.10:g.62305378A>G, NG_033901.1:g.21216A>G, NM_032957.5:c.923A>G, NM_032957.4:c.923A>G, NM_016434.4:c.851A>G, NM_016434.3:c.851A>G, NM_001283009.2:c.851A>G, NM_001283009.1:c.851A>G, NM_001283010.1:c.182A>G, NR_037882.1:n.1678A>G, NP_116575.3:p.Glu308Gly, NP_057518.1:p.Glu284Gly, NP_001269938.1:p.Glu284Gly, NP_001269939.1:p.Glu61Gly

Select item 148486500319.

rs1484865003 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:63689539 (GRCh38)
20:62320892 (GRCh37)
Canonical SPDI:: NC_000020.11:63689538:G:A
Gene:: RTEL1 (Varview), RTEL1-TNFRSF6B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.63689539G>A, NC_000020.10:g.62320892G>A, NG_033901.1:g.36730G>A, NM_032957.5:c.1988G>A, NM_032957.4:c.1988G>A, NM_016434.4:c.1916G>A, NM_016434.3:c.1916G>A, NM_001283009.2:c.1916G>A, NM_001283009.1:c.1916G>A, NM_001283010.1:c.1247G>A, NR_037882.1:n.2743G>A, NP_116575.3:p.Arg663His, NP_057518.1:p.Arg639His, NP_001269938.1:p.Arg639His, NP_001269939.1:p.Arg416His

Select item 148432270820.

rs1484322708 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 20:63658216 (GRCh38)
20:62289569 (GRCh37)
Canonical SPDI:: NC_000020.11:63658215:C:G,NC_000020.11:63658215:C:T
Gene:: RTEL1 (Varview), RTEL1-TNFRSF6B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
G=0.001667/1 (NorthernSweden)
HGVS:: NC_000020.11:g.63658216C>G, NC_000020.11:g.63658216C>T, NC_000020.10:g.62289569C>G, NC_000020.10:g.62289569C>T, NG_033901.1:g.5407C>G, NG_033901.1:g.5407C>T, NM_001283010.1:c.-811C>G, NM_001283010.1:c.-811C>T, NM_032957.4:c.-421C>G, NM_032957.4:c.-421C>T, NM_016434.3:c.-421C>G, NM_016434.3:c.-421C>T, NR_037882.1:n.407C>G, NR_037882.1:n.407C>T, NM_001283009.1:c.-421C>G, NM_001283009.1:c.-421C>T

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