SNP Links for Nucleotide (Select 530413811) - SNP - NCBI

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Links from Nucleotide

Items: 1 to 20 of 1511

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Select item 14908232821.

rs1490823282 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:23543460 (GRCh38)
18:21123424 (GRCh37)
Canonical SPDI:: NC_000018.10:23543459:A:G
Gene:: NPC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000018.10:g.23543460A>G, NC_000018.9:g.21123424A>G, NG_012795.1:g.48158T>C, NM_000271.5:c.2240T>C, NM_000271.4:c.2240T>C, XM_005258278.6:c.2291T>C, XM_005258278.5:c.2291T>C, XM_005258278.4:c.2291T>C, XM_005258278.3:c.2291T>C, XM_005258278.2:c.2291T>C, XM_005258278.1:c.2291T>C, XM_006722479.4:c.2291T>C, XM_006722479.3:c.2291T>C, XM_006722479.2:c.2291T>C, XM_006722479.1:c.2291T>C, XM_005258279.3:c.2240T>C, XM_005258279.2:c.2240T>C, XM_005258279.1:c.2240T>C, XM_017025786.2:c.2240T>C, XM_017025786.1:c.2240T>C, XM_017025787.2:c.2240T>C, XM_017025787.1:c.2240T>C, XM_017025784.1:c.2291T>C, XM_017025785.1:c.2291T>C, XM_047437539.1:c.2240T>C, XM_005258277.1:c.2291T>C, NP_000262.2:p.Phe747Ser, XP_005258335.1:p.Phe764Ser, XP_006722542.1:p.Phe764Ser, XP_005258336.1:p.Phe747Ser, XP_016881275.1:p.Phe747Ser, XP_016881276.1:p.Phe747Ser, XP_016881273.1:p.Phe764Ser, XP_016881274.1:p.Phe764Ser, XP_047293495.1:p.Phe747Ser, XP_005258334.1:p.Phe764Ser

Select item 14902104062.

rs1490210406 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:23540448 (GRCh38)
18:21120412 (GRCh37)
Canonical SPDI:: NC_000018.10:23540447:A:G
Gene:: NPC1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.23540448A>G, NC_000018.9:g.21120412A>G, NG_012795.1:g.51170T>C, NM_000271.5:c.2604T>C, NM_000271.4:c.2604T>C, XM_005258278.6:c.2655T>C, XM_005258278.5:c.2655T>C, XM_005258278.4:c.2655T>C, XM_005258278.3:c.2655T>C, XM_005258278.2:c.2655T>C, XM_005258278.1:c.2655T>C, XM_006722479.4:c.2655T>C, XM_006722479.3:c.2655T>C, XM_006722479.2:c.2655T>C, XM_006722479.1:c.2655T>C, XM_005258279.3:c.2604T>C, XM_005258279.2:c.2604T>C, XM_005258279.1:c.2604T>C, XM_017025786.2:c.2604T>C, XM_017025786.1:c.2604T>C, XM_017025787.2:c.2604T>C, XM_017025787.1:c.2604T>C, XM_017025784.1:c.2655T>C, XM_017025785.1:c.2655T>C, XM_047437539.1:c.2604T>C, XM_005258277.1:c.2655T>C

Select item 14901906763.

rs1490190676 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 18:23556333 (GRCh38)
18:21136297 (GRCh37)
Canonical SPDI:: NC_000018.10:23556332:G:C
Gene:: NPC1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.23556333G>C, NC_000018.9:g.21136297G>C, NG_012795.1:g.35285C>G, NM_000271.5:c.1236C>G, NM_000271.4:c.1236C>G, XM_005258278.6:c.1287C>G, XM_005258278.5:c.1287C>G, XM_005258278.4:c.1287C>G, XM_005258278.3:c.1287C>G, XM_005258278.2:c.1287C>G, XM_005258278.1:c.1287C>G, XM_006722479.4:c.1287C>G, XM_006722479.3:c.1287C>G, XM_006722479.2:c.1287C>G, XM_006722479.1:c.1287C>G, XM_005258279.3:c.1236C>G, XM_005258279.2:c.1236C>G, XM_005258279.1:c.1236C>G, XM_017025786.2:c.1236C>G, XM_017025786.1:c.1236C>G, XM_017025787.2:c.1236C>G, XM_017025787.1:c.1236C>G, XM_017025784.1:c.1287C>G, XM_017025785.1:c.1287C>G, XM_047437539.1:c.1236C>G, XM_005258277.1:c.1287C>G

Select item 14867583314.

rs1486758331 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:23551690 (GRCh38)
18:21131654 (GRCh37)
Canonical SPDI:: NC_000018.10:23551689:C:T
Gene:: NPC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000018.10:g.23551690C>T, NC_000018.9:g.21131654C>T, NG_012795.1:g.39928G>A, NM_000271.5:c.1591G>A, NM_000271.4:c.1591G>A, XM_005258278.6:c.1642G>A, XM_005258278.5:c.1642G>A, XM_005258278.4:c.1642G>A, XM_005258278.3:c.1642G>A, XM_005258278.2:c.1642G>A, XM_005258278.1:c.1642G>A, XM_006722479.4:c.1642G>A, XM_006722479.3:c.1642G>A, XM_006722479.2:c.1642G>A, XM_006722479.1:c.1642G>A, XM_005258279.3:c.1591G>A, XM_005258279.2:c.1591G>A, XM_005258279.1:c.1591G>A, XM_017025786.2:c.1591G>A, XM_017025786.1:c.1591G>A, XM_017025787.2:c.1591G>A, XM_017025787.1:c.1591G>A, XM_017025784.1:c.1642G>A, XM_017025785.1:c.1642G>A, XM_047437539.1:c.1591G>A, XM_005258277.1:c.1642G>A, NP_000262.2:p.Asp531Asn, XP_005258335.1:p.Asp548Asn, XP_006722542.1:p.Asp548Asn, XP_005258336.1:p.Asp531Asn, XP_016881275.1:p.Asp531Asn, XP_016881276.1:p.Asp531Asn, XP_016881273.1:p.Asp548Asn, XP_016881274.1:p.Asp548Asn, XP_047293495.1:p.Asp531Asn, XP_005258334.1:p.Asp548Asn

Select item 14854133375.

rs1485413337 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 18:23586436 (GRCh38)
18:21166400 (GRCh37)
Canonical SPDI:: NC_000018.10:23586435:C:A,NC_000018.10:23586435:C:G
Gene:: NPC1 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
G=0.000106/2 (TOMMO)
HGVS:: NC_000018.10:g.23586436C>A, NC_000018.10:g.23586436C>G, NC_000018.9:g.21166400C>A, NC_000018.9:g.21166400C>G, NG_012795.1:g.5182G>T, NG_012795.1:g.5182G>C, NM_000271.5:c.-93G>T, NM_000271.5:c.-93G>C, NM_000271.4:c.-93G>T, NM_000271.4:c.-93G>C, XM_005258278.6:c.-93G>T, XM_005258278.6:c.-93G>C, XM_005258278.5:c.-93G>T, XM_005258278.5:c.-93G>C, XM_005258278.4:c.-93G>T, XM_005258278.4:c.-93G>C, XM_005258278.3:c.-93G>T, XM_005258278.3:c.-93G>C, XM_005258278.2:c.-93G>T, XM_005258278.2:c.-93G>C, XM_005258278.1:c.-93G>T, XM_005258278.1:c.-93G>C, XM_006722479.4:c.-93G>T, XM_006722479.4:c.-93G>C, XM_006722479.3:c.-93G>T, XM_006722479.3:c.-93G>C, XM_006722479.2:c.-93G>T, XM_006722479.2:c.-93G>C, XM_006722479.1:c.-93G>T, XM_006722479.1:c.-93G>C, XM_005258279.3:c.-93G>T, XM_005258279.3:c.-93G>C, XM_005258279.2:c.-93G>T, XM_005258279.2:c.-93G>C, XM_005258279.1:c.-93G>T, XM_005258279.1:c.-93G>C, XM_017025786.2:c.-93G>T, XM_017025786.2:c.-93G>C, XM_017025786.1:c.-93G>T, XM_017025786.1:c.-93G>C, XM_017025787.2:c.-93G>T, XM_017025787.2:c.-93G>C, XM_017025787.1:c.-93G>T, XM_017025787.1:c.-93G>C, XM_017025784.1:c.-93G>T, XM_017025784.1:c.-93G>C, XM_017025785.1:c.-93G>T, XM_017025785.1:c.-93G>C, XM_047437539.1:c.-93G>T, XM_047437539.1:c.-93G>C, XM_005258277.1:c.-93G>T, XM_005258277.1:c.-93G>C

Select item 14850392696.

rs1485039269 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:23586399 (GRCh38)
18:21166363 (GRCh37)
Canonical SPDI:: NC_000018.10:23586398:G:A
Gene:: NPC1 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000018.10:g.23586399G>A, NC_000018.9:g.21166363G>A, NG_012795.1:g.5219C>T, NM_000271.5:c.-56C>T, NM_000271.4:c.-56C>T, XM_005258278.6:c.-56C>T, XM_005258278.5:c.-56C>T, XM_005258278.4:c.-56C>T, XM_005258278.3:c.-56C>T, XM_005258278.2:c.-56C>T, XM_005258278.1:c.-56C>T, XM_006722479.4:c.-56C>T, XM_006722479.3:c.-56C>T, XM_006722479.2:c.-56C>T, XM_006722479.1:c.-56C>T, XM_005258279.3:c.-56C>T, XM_005258279.2:c.-56C>T, XM_005258279.1:c.-56C>T, XM_017025786.2:c.-56C>T, XM_017025786.1:c.-56C>T, XM_017025787.2:c.-56C>T, XM_017025787.1:c.-56C>T, XM_017025784.1:c.-56C>T, XM_017025785.1:c.-56C>T, XM_047437539.1:c.-56C>T, XM_005258277.1:c.-56C>T

Select item 14841159357.

rs1484115935 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:23545072 (GRCh38)
18:21125036 (GRCh37)
Canonical SPDI:: NC_000018.10:23545071:T:C
Gene:: NPC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.23545072T>C, NC_000018.9:g.21125036T>C, NG_012795.1:g.46546A>G, NM_000271.5:c.1835A>G, NM_000271.4:c.1835A>G, XM_005258278.6:c.1886A>G, XM_005258278.5:c.1886A>G, XM_005258278.4:c.1886A>G, XM_005258278.3:c.1886A>G, XM_005258278.2:c.1886A>G, XM_005258278.1:c.1886A>G, XM_006722479.4:c.1886A>G, XM_006722479.3:c.1886A>G, XM_006722479.2:c.1886A>G, XM_006722479.1:c.1886A>G, XM_005258279.3:c.1835A>G, XM_005258279.2:c.1835A>G, XM_005258279.1:c.1835A>G, XM_017025786.2:c.1835A>G, XM_017025786.1:c.1835A>G, XM_017025787.2:c.1835A>G, XM_017025787.1:c.1835A>G, XM_017025784.1:c.1886A>G, XM_017025785.1:c.1886A>G, XM_047437539.1:c.1835A>G, XM_005258277.1:c.1886A>G, NP_000262.2:p.Glu612Gly, XP_005258335.1:p.Glu629Gly, XP_006722542.1:p.Glu629Gly, XP_005258336.1:p.Glu612Gly, XP_016881275.1:p.Glu612Gly, XP_016881276.1:p.Glu612Gly, XP_016881273.1:p.Glu629Gly, XP_016881274.1:p.Glu629Gly, XP_047293495.1:p.Glu612Gly, XP_005258334.1:p.Glu629Gly

Select item 14829261898.

rs1482926189 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:23573465 (GRCh38)
18:21153429 (GRCh37)
Canonical SPDI:: NC_000018.10:23573464:T:C
Gene:: NPC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.23573465T>C, NC_000018.9:g.21153429T>C, NG_012795.1:g.18153A>G, NM_000271.5:c.167A>G, NM_000271.4:c.167A>G, XM_005258278.6:c.167A>G, XM_005258278.5:c.167A>G, XM_005258278.4:c.167A>G, XM_005258278.3:c.167A>G, XM_005258278.2:c.167A>G, XM_005258278.1:c.167A>G, XM_006722479.4:c.167A>G, XM_006722479.3:c.167A>G, XM_006722479.2:c.167A>G, XM_006722479.1:c.167A>G, XM_005258279.3:c.167A>G, XM_005258279.2:c.167A>G, XM_005258279.1:c.167A>G, XM_017025786.2:c.167A>G, XM_017025786.1:c.167A>G, XM_017025787.2:c.167A>G, XM_017025787.1:c.167A>G, XM_017025784.1:c.167A>G, XM_017025785.1:c.167A>G, XM_047437539.1:c.167A>G, XM_005258277.1:c.167A>G, NP_000262.2:p.Tyr56Cys, XP_005258335.1:p.Tyr56Cys, XP_006722542.1:p.Tyr56Cys, XP_005258336.1:p.Tyr56Cys, XP_016881275.1:p.Tyr56Cys, XP_016881276.1:p.Tyr56Cys, XP_016881273.1:p.Tyr56Cys, XP_016881274.1:p.Tyr56Cys, XP_047293495.1:p.Tyr56Cys, XP_005258334.1:p.Tyr56Cys

Select item 14828051089.

rs1482805108 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:23506355 (GRCh38)
18:21086319 (GRCh37)
Canonical SPDI:: NC_000018.10:23506354:C:T
Gene:: NPC1 (Varview), RMC1 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.23506355C>T, NC_000018.9:g.21086319C>T, NG_033119.1:g.7886C>T, XM_005258279.3:c.*181G>A, XM_005258279.2:c.*181G>A, XM_005258279.1:c.*181G>A, XM_005258277.1:c.*181G>A

Select item 148219943310.

rs1482199433 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:23556610 (GRCh38)
18:21136574 (GRCh37)
Canonical SPDI:: NC_000018.10:23556609:T:C
Gene:: NPC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.23556610T>C, NC_000018.9:g.21136574T>C, NG_012795.1:g.35008A>G, NM_000271.5:c.959A>G, NM_000271.4:c.959A>G, XM_005258278.6:c.1010A>G, XM_005258278.5:c.1010A>G, XM_005258278.4:c.1010A>G, XM_005258278.3:c.1010A>G, XM_005258278.2:c.1010A>G, XM_005258278.1:c.1010A>G, XM_006722479.4:c.1010A>G, XM_006722479.3:c.1010A>G, XM_006722479.2:c.1010A>G, XM_006722479.1:c.1010A>G, XM_005258279.3:c.959A>G, XM_005258279.2:c.959A>G, XM_005258279.1:c.959A>G, XM_017025786.2:c.959A>G, XM_017025786.1:c.959A>G, XM_017025787.2:c.959A>G, XM_017025787.1:c.959A>G, XM_017025784.1:c.1010A>G, XM_017025785.1:c.1010A>G, XM_047437539.1:c.959A>G, XM_005258277.1:c.1010A>G, NP_000262.2:p.Glu320Gly, XP_005258335.1:p.Glu337Gly, XP_006722542.1:p.Glu337Gly, XP_005258336.1:p.Glu320Gly, XP_016881275.1:p.Glu320Gly, XP_016881276.1:p.Glu320Gly, XP_016881273.1:p.Glu337Gly, XP_016881274.1:p.Glu337Gly, XP_047293495.1:p.Glu320Gly, XP_005258334.1:p.Glu337Gly

Select item 147904884111.

rs1479048841 [Homo sapiens]

Variant type:: DEL
Alleles:: CCAA>- [Show Flanks]
Chromosome:: 18:23544457 (GRCh38)
18:21124421 (GRCh37)
Canonical SPDI:: NC_000018.10:23544456:CCAA:
Gene:: NPC1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000018.10:g.23544457_23544460del, NC_000018.9:g.21124421_21124424del, NG_012795.1:g.47158_47161del, NM_000271.5:c.2014_2017del, NM_000271.4:c.2014_2017del, XM_005258278.6:c.2065_2068del, XM_005258278.5:c.2065_2068del, XM_005258278.4:c.2065_2068del, XM_005258278.3:c.2065_2068del, XM_005258278.2:c.2065_2068del, XM_005258278.1:c.2065_2068del, XM_006722479.4:c.2065_2068del, XM_006722479.3:c.2065_2068del, XM_006722479.2:c.2065_2068del, XM_006722479.1:c.2065_2068del, XM_005258279.3:c.2014_2017del, XM_005258279.2:c.2014_2017del, XM_005258279.1:c.2014_2017del, XM_017025786.2:c.2014_2017del, XM_017025786.1:c.2014_2017del, XM_017025787.2:c.2014_2017del, XM_017025787.1:c.2014_2017del, XM_017025784.1:c.2065_2068del, XM_017025785.1:c.2065_2068del, XM_047437539.1:c.2014_2017del, XM_005258277.1:c.2065_2068del, NP_000262.2:p.Leu672fs, XP_005258335.1:p.Leu689fs, XP_006722542.1:p.Leu689fs, XP_005258336.1:p.Leu672fs, XP_016881275.1:p.Leu672fs, XP_016881276.1:p.Leu672fs, XP_016881273.1:p.Leu689fs, XP_016881274.1:p.Leu689fs, XP_047293495.1:p.Leu672fs, XP_005258334.1:p.Leu689fs

Select item 147894803712.

rs1478948037 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 18:23535583 (GRCh38)
18:21115547 (GRCh37)
Canonical SPDI:: NC_000018.10:23535582:G:C
Gene:: NPC1 (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_000018.10:g.23535583G>C, NC_000018.9:g.21115547G>C, NG_012795.1:g.56035C>G, NM_000271.5:c.3363C>G, NM_000271.4:c.3363C>G, XM_005258278.6:c.3414C>G, XM_005258278.5:c.3414C>G, XM_005258278.4:c.3414C>G, XM_005258278.3:c.3414C>G, XM_005258278.2:c.3414C>G, XM_005258278.1:c.3414C>G, XM_006722479.4:c.3414C>G, XM_006722479.3:c.3414C>G, XM_006722479.2:c.3414C>G, XM_006722479.1:c.3414C>G, XM_005258279.3:c.3363C>G, XM_005258279.2:c.3363C>G, XM_005258279.1:c.3363C>G, XM_017025786.2:c.3363C>G, XM_017025786.1:c.3363C>G, XM_017025787.2:c.3363C>G, XM_017025787.1:c.3363C>G, XM_017025784.1:c.3414C>G, XM_017025785.1:c.3414C>G, XM_047437539.1:c.3363C>G, XM_005258277.1:c.3414C>G

Select item 147852524313.

rs1478525243 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 18:23556380 (GRCh38)
18:21136344 (GRCh37)
Canonical SPDI:: NC_000018.10:23556379:G:T
Gene:: NPC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000018.10:g.23556380G>T, NC_000018.9:g.21136344G>T, NG_012795.1:g.35238C>A, NM_000271.5:c.1189C>A, NM_000271.4:c.1189C>A, XM_005258278.6:c.1240C>A, XM_005258278.5:c.1240C>A, XM_005258278.4:c.1240C>A, XM_005258278.3:c.1240C>A, XM_005258278.2:c.1240C>A, XM_005258278.1:c.1240C>A, XM_006722479.4:c.1240C>A, XM_006722479.3:c.1240C>A, XM_006722479.2:c.1240C>A, XM_006722479.1:c.1240C>A, XM_005258279.3:c.1189C>A, XM_005258279.2:c.1189C>A, XM_005258279.1:c.1189C>A, XM_017025786.2:c.1189C>A, XM_017025786.1:c.1189C>A, XM_017025787.2:c.1189C>A, XM_017025787.1:c.1189C>A, XM_017025784.1:c.1240C>A, XM_017025785.1:c.1240C>A, XM_047437539.1:c.1189C>A, XM_005258277.1:c.1240C>A, NP_000262.2:p.Gln397Lys, XP_005258335.1:p.Gln414Lys, XP_006722542.1:p.Gln414Lys, XP_005258336.1:p.Gln397Lys, XP_016881275.1:p.Gln397Lys, XP_016881276.1:p.Gln397Lys, XP_016881273.1:p.Gln414Lys, XP_016881274.1:p.Gln414Lys, XP_047293495.1:p.Gln397Lys, XP_005258334.1:p.Gln414Lys

Select item 147849476814.

rs1478494768 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:23541096 (GRCh38)
18:21121060 (GRCh37)
Canonical SPDI:: NC_000018.10:23541095:A:G
Gene:: NPC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.23541096A>G, NC_000018.9:g.21121060A>G, NG_012795.1:g.50522T>C, NM_000271.5:c.2486T>C, NM_000271.4:c.2486T>C, XM_005258278.6:c.2537T>C, XM_005258278.5:c.2537T>C, XM_005258278.4:c.2537T>C, XM_005258278.3:c.2537T>C, XM_005258278.2:c.2537T>C, XM_005258278.1:c.2537T>C, XM_006722479.4:c.2537T>C, XM_006722479.3:c.2537T>C, XM_006722479.2:c.2537T>C, XM_006722479.1:c.2537T>C, XM_005258279.3:c.2486T>C, XM_005258279.2:c.2486T>C, XM_005258279.1:c.2486T>C, XM_017025786.2:c.2486T>C, XM_017025786.1:c.2486T>C, XM_017025787.2:c.2486T>C, XM_017025787.1:c.2486T>C, XM_017025784.1:c.2537T>C, XM_017025785.1:c.2537T>C, XM_047437539.1:c.2486T>C, XM_005258277.1:c.2537T>C, NP_000262.2:p.Leu829Pro, XP_005258335.1:p.Leu846Pro, XP_006722542.1:p.Leu846Pro, XP_005258336.1:p.Leu829Pro, XP_016881275.1:p.Leu829Pro, XP_016881276.1:p.Leu829Pro, XP_016881273.1:p.Leu846Pro, XP_016881274.1:p.Leu846Pro, XP_047293495.1:p.Leu829Pro, XP_005258334.1:p.Leu846Pro

Select item 147793207615.

rs1477932076 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAA>- [Show Flanks]
Chromosome:: 18:23506226 (GRCh38)
18:21086190 (GRCh37)
Canonical SPDI:: NC_000018.10:23506221:ATAATAA:ATAA
Gene:: NPC1 (Varview), RMC1 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: ATAA=0./0 (ALFA)
HGVS:: NC_000018.10:g.23506223TAA[1], NC_000018.9:g.21086187TAA[1], NG_033119.1:g.7754TAA[1], XM_005258279.3:c.*309TAT[1], XM_005258279.2:c.*309TAT[1], XM_005258279.1:c.*309TAT[1], XM_005258277.1:c.*309TAT[1]

Select item 147697188316.

rs1476971883 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 18:23586369 (GRCh38)
18:21166333 (GRCh37)
Canonical SPDI:: NC_000018.10:23586368:G:A,NC_000018.10:23586368:G:T
Gene:: NPC1 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by cluster
HGVS:: NC_000018.10:g.23586369G>A, NC_000018.10:g.23586369G>T, NC_000018.9:g.21166333G>A, NC_000018.9:g.21166333G>T, NG_012795.1:g.5249C>T, NG_012795.1:g.5249C>A, NM_000271.5:c.-26C>T, NM_000271.5:c.-26C>A, NM_000271.4:c.-26C>T, NM_000271.4:c.-26C>A, XM_005258278.6:c.-26C>T, XM_005258278.6:c.-26C>A, XM_005258278.5:c.-26C>T, XM_005258278.5:c.-26C>A, XM_005258278.4:c.-26C>T, XM_005258278.4:c.-26C>A, XM_005258278.3:c.-26C>T, XM_005258278.3:c.-26C>A, XM_005258278.2:c.-26C>T, XM_005258278.2:c.-26C>A, XM_005258278.1:c.-26C>T, XM_005258278.1:c.-26C>A, XM_006722479.4:c.-26C>T, XM_006722479.4:c.-26C>A, XM_006722479.3:c.-26C>T, XM_006722479.3:c.-26C>A, XM_006722479.2:c.-26C>T, XM_006722479.2:c.-26C>A, XM_006722479.1:c.-26C>T, XM_006722479.1:c.-26C>A, XM_005258279.3:c.-26C>T, XM_005258279.3:c.-26C>A, XM_005258279.2:c.-26C>T, XM_005258279.2:c.-26C>A, XM_005258279.1:c.-26C>T, XM_005258279.1:c.-26C>A, XM_017025786.2:c.-26C>T, XM_017025786.2:c.-26C>A, XM_017025786.1:c.-26C>T, XM_017025786.1:c.-26C>A, XM_017025787.2:c.-26C>T, XM_017025787.2:c.-26C>A, XM_017025787.1:c.-26C>T, XM_017025787.1:c.-26C>A, XM_017025784.1:c.-26C>T, XM_017025784.1:c.-26C>A, XM_017025785.1:c.-26C>T, XM_017025785.1:c.-26C>A, XM_047437539.1:c.-26C>T, XM_047437539.1:c.-26C>A, XM_005258277.1:c.-26C>T, XM_005258277.1:c.-26C>A

Select item 147675889817.

rs1476758898 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 18:23548079 (GRCh38)
18:21128043 (GRCh37)
Canonical SPDI:: NC_000018.10:23548078:C:A,NC_000018.10:23548078:C:T
Gene:: NPC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000018.10:g.23548079C>A, NC_000018.10:g.23548079C>T, NC_000018.9:g.21128043C>A, NC_000018.9:g.21128043C>T, NG_012795.1:g.43539G>T, NG_012795.1:g.43539G>A, NM_000271.5:c.1684G>T, NM_000271.5:c.1684G>A, NM_000271.4:c.1684G>T, NM_000271.4:c.1684G>A, XM_005258278.6:c.1735G>T, XM_005258278.6:c.1735G>A, XM_005258278.5:c.1735G>T, XM_005258278.5:c.1735G>A, XM_005258278.4:c.1735G>T, XM_005258278.4:c.1735G>A, XM_005258278.3:c.1735G>T, XM_005258278.3:c.1735G>A, XM_005258278.2:c.1735G>T, XM_005258278.2:c.1735G>A, XM_005258278.1:c.1735G>T, XM_005258278.1:c.1735G>A, XM_006722479.4:c.1735G>T, XM_006722479.4:c.1735G>A, XM_006722479.3:c.1735G>T, XM_006722479.3:c.1735G>A, XM_006722479.2:c.1735G>T, XM_006722479.2:c.1735G>A, XM_006722479.1:c.1735G>T, XM_006722479.1:c.1735G>A, XM_005258279.3:c.1684G>T, XM_005258279.3:c.1684G>A, XM_005258279.2:c.1684G>T, XM_005258279.2:c.1684G>A, XM_005258279.1:c.1684G>T, XM_005258279.1:c.1684G>A, XM_017025786.2:c.1684G>T, XM_017025786.2:c.1684G>A, XM_017025786.1:c.1684G>T, XM_017025786.1:c.1684G>A, XM_017025787.2:c.1684G>T, XM_017025787.2:c.1684G>A, XM_017025787.1:c.1684G>T, XM_017025787.1:c.1684G>A, XM_017025784.1:c.1735G>T, XM_017025784.1:c.1735G>A, XM_017025785.1:c.1735G>T, XM_017025785.1:c.1735G>A, XM_047437539.1:c.1684G>T, XM_047437539.1:c.1684G>A, XM_005258277.1:c.1735G>T, XM_005258277.1:c.1735G>A, NP_000262.2:p.Val562Leu, NP_000262.2:p.Val562Met, XP_005258335.1:p.Val579Leu, XP_005258335.1:p.Val579Met, XP_006722542.1:p.Val579Leu, XP_006722542.1:p.Val579Met, XP_005258336.1:p.Val562Leu, XP_005258336.1:p.Val562Met, XP_016881275.1:p.Val562Leu, XP_016881275.1:p.Val562Met, XP_016881276.1:p.Val562Leu, XP_016881276.1:p.Val562Met, XP_016881273.1:p.Val579Leu, XP_016881273.1:p.Val579Met, XP_016881274.1:p.Val579Leu, XP_016881274.1:p.Val579Met, XP_047293495.1:p.Val562Leu, XP_047293495.1:p.Val562Met, XP_005258334.1:p.Val579Leu, XP_005258334.1:p.Val579Met

Select item 147606026718.

rs1476060267 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:23533367 (GRCh38)
18:21113331 (GRCh37)
Canonical SPDI:: NC_000018.10:23533366:G:A
Gene:: NPC1 (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=0.000014/2 (GnomAD)
HGVS:: NC_000018.10:g.23533367G>A, NC_000018.9:g.21113331G>A, NG_012795.1:g.58251C>T, NM_000271.5:c.3742C>T, NM_000271.4:c.3742C>T, NG_033119.1:g.34898G>A, XM_005258278.6:c.3793C>T, XM_005258278.5:c.3793C>T, XM_005258278.4:c.3793C>T, XM_005258278.3:c.3793C>T, XM_005258278.2:c.3793C>T, XM_005258278.1:c.3793C>T, XM_006722479.4:c.3793C>T, XM_006722479.3:c.3793C>T, XM_006722479.2:c.3793C>T, XM_006722479.1:c.3793C>T, XM_005258279.3:c.3742C>T, XM_005258279.2:c.3742C>T, XM_005258279.1:c.3742C>T, XM_017025786.2:c.3742C>T, XM_017025786.1:c.3742C>T, XM_017025787.2:c.3742C>T, XM_017025787.1:c.3742C>T, XM_017025784.1:c.3793C>T, XM_017025785.1:c.3793C>T, XM_047437539.1:c.3742C>T, XM_005258277.1:c.3793C>T, NP_000262.2:p.Leu1248Phe, XP_005258335.1:p.Leu1265Phe, XP_006722542.1:p.Leu1265Phe, XP_005258336.1:p.Leu1248Phe, XP_016881275.1:p.Leu1248Phe, XP_016881276.1:p.Leu1248Phe, XP_016881273.1:p.Leu1265Phe, XP_016881274.1:p.Leu1265Phe, XP_047293495.1:p.Leu1248Phe, XP_005258334.1:p.Leu1265Phe

Select item 147456562419.

rs1474565624 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTTTTT [Show Flanks]
Chromosome:: 18:23544449 (GRCh38)
18:21124414 (GRCh37)
Canonical SPDI:: NC_000018.10:23544449::TTTTTT
Gene:: NPC1 (Varview)
Functional Consequence:: inframe_indel,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000018.10:g.23544449_23544450insTTTTTT, NC_000018.9:g.21124413_21124414insTTTTTT, NG_012795.1:g.47168_47169insAAAAAA, NM_000271.5:c.2024_2025insAAAAAA, NM_000271.4:c.2024_2025insAAAAAA, XM_005258278.6:c.2075_2076insAAAAAA, XM_005258278.5:c.2075_2076insAAAAAA, XM_005258278.4:c.2075_2076insAAAAAA, XM_005258278.3:c.2075_2076insAAAAAA, XM_005258278.2:c.2075_2076insAAAAAA, XM_005258278.1:c.2075_2076insAAAAAA, XM_006722479.4:c.2075_2076insAAAAAA, XM_006722479.3:c.2075_2076insAAAAAA, XM_006722479.2:c.2075_2076insAAAAAA, XM_006722479.1:c.2075_2076insAAAAAA, XM_005258279.3:c.2024_2025insAAAAAA, XM_005258279.2:c.2024_2025insAAAAAA, XM_005258279.1:c.2024_2025insAAAAAA, XM_017025786.2:c.2024_2025insAAAAAA, XM_017025786.1:c.2024_2025insAAAAAA, XM_017025787.2:c.2024_2025insAAAAAA, XM_017025787.1:c.2024_2025insAAAAAA, XM_017025784.1:c.2075_2076insAAAAAA, XM_017025785.1:c.2075_2076insAAAAAA, XM_047437539.1:c.2024_2025insAAAAAA, XM_005258277.1:c.2075_2076insAAAAAA, NP_000262.2:p.Phe675delinsLeuLysAsn, XP_005258335.1:p.Phe692delinsLeuLysAsn, XP_006722542.1:p.Phe692delinsLeuLysAsn, XP_005258336.1:p.Phe675delinsLeuLysAsn, XP_016881275.1:p.Phe675delinsLeuLysAsn, XP_016881276.1:p.Phe675delinsLeuLysAsn, XP_016881273.1:p.Phe692delinsLeuLysAsn, XP_016881274.1:p.Phe692delinsLeuLysAsn, XP_047293495.1:p.Phe675delinsLeuLysAsn, XP_005258334.1:p.Phe692delinsLeuLysAsn

Select item 147449612120.

rs1474496121 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 18:23560335 (GRCh38)
18:21140299 (GRCh37)
Canonical SPDI:: NC_000018.10:23560334:G:C
Gene:: NPC1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.23560335G>C, NC_000018.9:g.21140299G>C, NG_012795.1:g.31283C>G, NM_000271.5:c.777C>G, NM_000271.4:c.777C>G, XM_005258278.6:c.777C>G, XM_005258278.5:c.777C>G, XM_005258278.4:c.777C>G, XM_005258278.3:c.777C>G, XM_005258278.2:c.777C>G, XM_005258278.1:c.777C>G, XM_006722479.4:c.777C>G, XM_006722479.3:c.777C>G, XM_006722479.2:c.777C>G, XM_006722479.1:c.777C>G, XM_005258279.3:c.777C>G, XM_005258279.2:c.777C>G, XM_005258279.1:c.777C>G, XM_017025786.2:c.777C>G, XM_017025786.1:c.777C>G, XM_017025787.2:c.777C>G, XM_017025787.1:c.777C>G, XM_017025784.1:c.777C>G, XM_017025785.1:c.777C>G, XM_047437539.1:c.777C>G, XM_005258277.1:c.777C>G

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