SNP Links for Protein (Select 13375618) - SNP

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Links from Protein

Items: 1 to 20 of 475

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Select item 14876605451.

rs1487660545 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGTGCAGGCGCGGAGCGCTGCT>- [Show Flanks]
Chromosome:: 1:54886918 (GRCh38)
1:55352591 (GRCh37)
Canonical SPDI:: NC_000001.11:54886909:GCGCTGCTCGTGCAGGCGCGGAGCGCTGCT:GCGCTGCT
Gene:: DHCR24 (Varview), DHCR24-DT (Varview)
Functional Consequence:: frameshift_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCGCTGCT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000008/2 (GnomAD_exomes)
-=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.54886918_54886939del, NC_000001.10:g.55352591_55352612del, NG_008839.1:g.5318_5339del, NM_014762.4:c.189_210del, NM_014762.3:c.189_210del, NP_055577.1:p.Pro64fs

Select item 14874958362.

rs1487495836 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:54883701 (GRCh38)
1:55349374 (GRCh37)
Canonical SPDI:: NC_000001.11:54883700:G:A
Gene:: DHCR24 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.54883701G>A, NC_000001.10:g.55349374G>A, NG_008839.1:g.8548C>T, NM_014762.4:c.304C>T, NM_014762.3:c.304C>T

Select item 14858421603.

rs1485842160 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 1:54865431 (GRCh38)
1:55331104 (GRCh37)
Canonical SPDI:: NC_000001.11:54865430:T:A,NC_000001.11:54865430:T:G
Gene:: DHCR24 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.54865431T>A, NC_000001.11:g.54865431T>G, NC_000001.10:g.55331104T>A, NC_000001.10:g.55331104T>G, NG_008839.1:g.26818A>T, NG_008839.1:g.26818A>C, NM_014762.4:c.892A>T, NM_014762.4:c.892A>C, NM_014762.3:c.892A>T, NM_014762.3:c.892A>C, NP_055577.1:p.Asn298Tyr, NP_055577.1:p.Asn298His

Select item 14854496014.

rs1485449601 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:54852318 (GRCh38)
1:55317991 (GRCh37)
Canonical SPDI:: NC_000001.11:54852317:A:G
Gene:: DHCR24 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.54852318A>G, NC_000001.10:g.55317991A>G, NG_008839.1:g.39931T>C, NM_014762.4:c.1466T>C, NM_014762.3:c.1466T>C, NP_055577.1:p.Leu489Ser

Select item 14851925995.

rs1485192599 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:54853602 (GRCh38)
1:55319275 (GRCh37)
Canonical SPDI:: NC_000001.11:54853601:A:G
Gene:: DHCR24 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.54853602A>G, NC_000001.10:g.55319275A>G, NG_008839.1:g.38647T>C, NM_014762.4:c.1229T>C, NM_014762.3:c.1229T>C, NP_055577.1:p.Ile410Thr

Select item 14817368036.

rs1481736803 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:54854089 (GRCh38)
1:55319762 (GRCh37)
Canonical SPDI:: NC_000001.11:54854088:A:G
Gene:: DHCR24 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.54854089A>G, NC_000001.10:g.55319762A>G, NG_008839.1:g.38160T>C, NM_014762.4:c.1166T>C, NM_014762.3:c.1166T>C, NP_055577.1:p.Val389Ala

Select item 14789099127.

rs1478909912 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:54854131 (GRCh38)
1:55319804 (GRCh37)
Canonical SPDI:: NC_000001.11:54854130:C:T
Gene:: DHCR24 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.54854131C>T, NC_000001.10:g.55319804C>T, NG_008839.1:g.38118G>A, NM_014762.4:c.1124G>A, NM_014762.3:c.1124G>A, NP_055577.1:p.Arg375His

Select item 14768790028.

rs1476879002 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:54871375 (GRCh38)
1:55337048 (GRCh37)
Canonical SPDI:: NC_000001.11:54871374:A:G
Gene:: DHCR24 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.54871375A>G, NC_000001.10:g.55337048A>G, NG_008839.1:g.20874T>C, NM_014762.4:c.851T>C, NM_014762.3:c.851T>C, NP_055577.1:p.Met284Thr

Select item 14764996899.

rs1476499689 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:54875195 (GRCh38)
1:55340868 (GRCh37)
Canonical SPDI:: NC_000001.11:54875194:G:A
Gene:: DHCR24 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.54875195G>A, NC_000001.10:g.55340868G>A, NG_008839.1:g.17054C>T, NM_014762.4:c.510C>T, NM_014762.3:c.510C>T

Select item 147642399710.

rs1476423997 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:54887033 (GRCh38)
1:55352706 (GRCh37)
Canonical SPDI:: NC_000001.11:54887032:G:A
Gene:: DHCR24 (Varview), DHCR24-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.54887033G>A, NC_000001.10:g.55352706G>A, NG_008839.1:g.5216C>T, NM_014762.4:c.87C>T, NM_014762.3:c.87C>T

Select item 147477941511.

rs1474779415 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:54875162 (GRCh38)
1:55340835 (GRCh37)
Canonical SPDI:: NC_000001.11:54875161:G:T
Gene:: DHCR24 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.54875162G>T, NC_000001.10:g.55340835G>T, NG_008839.1:g.17087C>A, NM_014762.4:c.543C>A, NM_014762.3:c.543C>A

Select item 147328474912.

rs1473284749 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:54852350 (GRCh38)
1:55318023 (GRCh37)
Canonical SPDI:: NC_000001.11:54852349:C:A
Gene:: DHCR24 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.54852350C>A, NC_000001.10:g.55318023C>A, NG_008839.1:g.39899G>T, NM_014762.4:c.1434G>T, NM_014762.3:c.1434G>T

Select item 147286294613.

rs1472862946 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:54852268 (GRCh38)
1:55317941 (GRCh37)
Canonical SPDI:: NC_000001.11:54852267:C:A
Gene:: DHCR24 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.54852268C>A, NC_000001.10:g.55317941C>A, NG_008839.1:g.39981G>T, NM_014762.4:c.1516G>T, NM_014762.3:c.1516G>T, NP_055577.1:p.Val506Leu

Select item 147078773114.

rs1470787731 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:54871608 (GRCh38)
1:55337281 (GRCh37)
Canonical SPDI:: NC_000001.11:54871607:T:C
Gene:: DHCR24 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.54871608T>C, NC_000001.10:g.55337281T>C, NG_008839.1:g.20641A>G, NM_014762.4:c.618A>G, NM_014762.3:c.618A>G

Select item 147034770115.

rs1470347701 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:54871397 (GRCh38)
1:55337070 (GRCh37)
Canonical SPDI:: NC_000001.11:54871396:C:A
Gene:: DHCR24 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000001.11:g.54871397C>A, NC_000001.10:g.55337070C>A, NG_008839.1:g.20852G>T, NM_014762.4:c.829G>T, NM_014762.3:c.829G>T, NP_055577.1:p.Ala277Ser

Select item 146737582616.

rs1467375826 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:54865398 (GRCh38)
1:55331071 (GRCh37)
Canonical SPDI:: NC_000001.11:54865397:C:T
Gene:: DHCR24 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.54865398C>T, NC_000001.10:g.55331071C>T, NG_008839.1:g.26851G>A, NM_014762.4:c.925G>A, NM_014762.3:c.925G>A, NP_055577.1:p.Glu309Lys

Select item 146732485017.

rs1467324850 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:54852254 (GRCh38)
1:55317927 (GRCh37)
Canonical SPDI:: NC_000001.11:54852253:G:T
Gene:: DHCR24 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.54852254G>T, NC_000001.10:g.55317927G>T, NG_008839.1:g.39995C>A, NM_014762.4:c.1530C>A, NM_014762.3:c.1530C>A

Select item 146680532518.

rs1466805325 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:54887009 (GRCh38)
1:55352682 (GRCh37)
Canonical SPDI:: NC_000001.11:54887008:G:A
Gene:: DHCR24 (Varview), DHCR24-DT (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.54887009G>A, NC_000001.10:g.55352682G>A, NG_008839.1:g.5240C>T, NM_014762.4:c.111C>T, NM_014762.3:c.111C>T

Select item 146356470419.

rs1463564704 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:54865403 (GRCh38)
1:55331076 (GRCh37)
Canonical SPDI:: NC_000001.11:54865402:T:C,NC_000001.11:54865402:T:G
Gene:: DHCR24 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.54865403T>C, NC_000001.11:g.54865403T>G, NC_000001.10:g.55331076T>C, NC_000001.10:g.55331076T>G, NG_008839.1:g.26846A>G, NG_008839.1:g.26846A>C, NM_014762.4:c.920A>G, NM_014762.4:c.920A>C, NM_014762.3:c.920A>G, NM_014762.3:c.920A>C, NP_055577.1:p.His307Arg, NP_055577.1:p.His307Pro

Select item 146160319520.

rs1461603195 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:54875167 (GRCh38)
1:55340840 (GRCh37)
Canonical SPDI:: NC_000001.11:54875166:A:C
Gene:: DHCR24 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000001.11:g.54875167A>C, NC_000001.10:g.55340840A>C, NG_008839.1:g.17082T>G, NM_014762.4:c.538T>G, NM_014762.3:c.538T>G, NP_055577.1:p.Tyr180Asp

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