SNP Links for Gene (Select 29919) - SNP

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Select item 14915482201.

rs1491548220 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 18:23521708 (GRCh38)
18:21101672 (GRCh37)
Canonical SPDI:: NC_000018.10:23521707:CC:
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:: -=0.00233/38 (ALFA)
-=0.00234/9 (ALSPAC)
-=0.00297/11 (TWINSUK)
HGVS:: NC_000018.10:g.23521708_23521709del, NC_000018.9:g.21101672_21101673del, NG_033119.1:g.23239_23240del, XM_006722479.4:c.*1181_*1182del, XM_006722479.2:c.*1181_*1182del, XM_006722479.1:c.*1181_*1182del, XM_017025787.2:c.*1181_*1182del

Select item 14915434222.

rs1491543422 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 18:23527224 (GRCh38)
18:21107189 (GRCh37)
Canonical SPDI:: NC_000018.10:23527224::G
Gene:: NPC1 (Varview), RMC1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.23527224_23527225insG, NC_000018.9:g.21107188_21107189insG, NG_033119.1:g.28755_28756insG

Select item 14915202883.

rs1491520288 has merged into rs386387173 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 18:23527236 (GRCh38)
18:21107200 (GRCh37)
Canonical SPDI:: NC_000018.10:23527223:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000018.10:23527223:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000018.10:23527223:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000018.10:23527223:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000018.10:23527223:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000018.10:23527223:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000018.10:23527223:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000018.10:23527223:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000018.10:23527223:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000018.10:23527223:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:23527223:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:23527223:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:23527223:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:23527223:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:23527223:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:23527223:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:23527223:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:23527223:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:23527223:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:23527223:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:23527223:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: NPC1 (Varview), RMC1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.23527236_23527249del, NC_000018.10:g.23527238_23527249del, NC_000018.10:g.23527239_23527249del, NC_000018.10:g.23527240_23527249del, NC_000018.10:g.23527241_23527249del, NC_000018.10:g.23527242_23527249del, NC_000018.10:g.23527243_23527249del, NC_000018.10:g.23527244_23527249del, NC_000018.10:g.23527245_23527249del, NC_000018.10:g.23527246_23527249del, NC_000018.10:g.23527247_23527249del, NC_000018.10:g.23527248_23527249del, NC_000018.10:g.23527249del, NC_000018.10:g.23527249dup, NC_000018.10:g.23527248_23527249dup, NC_000018.10:g.23527247_23527249dup, NC_000018.10:g.23527246_23527249dup, NC_000018.10:g.23527245_23527249dup, NC_000018.10:g.23527244_23527249dup, NC_000018.10:g.23527243_23527249dup, NC_000018.10:g.23527241_23527249dup, NC_000018.9:g.21107200_21107213del, NC_000018.9:g.21107202_21107213del, NC_000018.9:g.21107203_21107213del, NC_000018.9:g.21107204_21107213del, NC_000018.9:g.21107205_21107213del, NC_000018.9:g.21107206_21107213del, NC_000018.9:g.21107207_21107213del, NC_000018.9:g.21107208_21107213del, NC_000018.9:g.21107209_21107213del, NC_000018.9:g.21107210_21107213del, NC_000018.9:g.21107211_21107213del, NC_000018.9:g.21107212_21107213del, NC_000018.9:g.21107213del, NC_000018.9:g.21107213dup, NC_000018.9:g.21107212_21107213dup, NC_000018.9:g.21107211_21107213dup, NC_000018.9:g.21107210_21107213dup, NC_000018.9:g.21107209_21107213dup, NC_000018.9:g.21107208_21107213dup, NC_000018.9:g.21107207_21107213dup, NC_000018.9:g.21107205_21107213dup, NG_033119.1:g.28767_28780del, NG_033119.1:g.28769_28780del, NG_033119.1:g.28770_28780del, NG_033119.1:g.28771_28780del, NG_033119.1:g.28772_28780del, NG_033119.1:g.28773_28780del, NG_033119.1:g.28774_28780del, NG_033119.1:g.28775_28780del, NG_033119.1:g.28776_28780del, NG_033119.1:g.28777_28780del, NG_033119.1:g.28778_28780del, NG_033119.1:g.28779_28780del, NG_033119.1:g.28780del, NG_033119.1:g.28780dup, NG_033119.1:g.28779_28780dup, NG_033119.1:g.28778_28780dup, NG_033119.1:g.28777_28780dup, NG_033119.1:g.28776_28780dup, NG_033119.1:g.28775_28780dup, NG_033119.1:g.28774_28780dup, NG_033119.1:g.28772_28780dup

Select item 14912701044.

rs1491270104 [Homo sapiens]

Variant type:: INS
Alleles:: ->ATGATCAAC [Show Flanks]
Chromosome:: 18:23531016 (GRCh38)
18:21110981 (GRCh37)
Canonical SPDI:: NC_000018.10:23531016::ATGATCAAC
Gene:: NPC1 (Varview), RMC1 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: ATGATCAAC=0.000029/4 (GnomAD)
HGVS:: NC_000018.10:g.23531016_23531017insATGATCAAC, NC_000018.9:g.21110980_21110981insATGATCAAC, NG_012795.1:g.60601_60602insGTTGATCAT, NG_033119.1:g.32547_32548insATGATCAAC

Select item 14910663615.

rs1491066361 has merged into rs5823396 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 18:23524953 (GRCh38)
18:21104917 (GRCh37)
Canonical SPDI:: NC_000018.10:23524941:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000018.10:23524941:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000018.10:23524941:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000018.10:23524941:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000018.10:23524941:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000018.10:23524941:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000018.10:23524941:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000018.10:23524941:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000018.10:23524941:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000018.10:23524941:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000018.10:23524941:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000018.10:23524941:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:23524941:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:23524941:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:23524941:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:23524941:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:23524941:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:23524941:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:23524941:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:23524941:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:23524941:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:23524941:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:23524941:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:23524941:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:23524941:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:23524941:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NPC1 (Varview), RMC1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.000019/5 (TOPMED)
HGVS:: NC_000018.10:g.23524953_23524965del, NC_000018.10:g.23524954_23524965del, NC_000018.10:g.23524955_23524965del, NC_000018.10:g.23524956_23524965del, NC_000018.10:g.23524957_23524965del, NC_000018.10:g.23524958_23524965del, NC_000018.10:g.23524959_23524965del, NC_000018.10:g.23524960_23524965del, NC_000018.10:g.23524961_23524965del, NC_000018.10:g.23524962_23524965del, NC_000018.10:g.23524963_23524965del, NC_000018.10:g.23524964_23524965del, NC_000018.10:g.23524965del, NC_000018.10:g.23524965dup, NC_000018.10:g.23524964_23524965dup, NC_000018.10:g.23524963_23524965dup, NC_000018.10:g.23524962_23524965dup, NC_000018.10:g.23524961_23524965dup, NC_000018.10:g.23524960_23524965dup, NC_000018.10:g.23524959_23524965dup, NC_000018.10:g.23524958_23524965dup, NC_000018.10:g.23524957_23524965dup, NC_000018.10:g.23524956_23524965dup, NC_000018.10:g.23524955_23524965dup, NC_000018.10:g.23524953_23524965dup, NC_000018.10:g.23524952_23524965dup, NC_000018.9:g.21104917_21104929del, NC_000018.9:g.21104918_21104929del, NC_000018.9:g.21104919_21104929del, NC_000018.9:g.21104920_21104929del, NC_000018.9:g.21104921_21104929del, NC_000018.9:g.21104922_21104929del, NC_000018.9:g.21104923_21104929del, NC_000018.9:g.21104924_21104929del, NC_000018.9:g.21104925_21104929del, NC_000018.9:g.21104926_21104929del, NC_000018.9:g.21104927_21104929del, NC_000018.9:g.21104928_21104929del, NC_000018.9:g.21104929del, NC_000018.9:g.21104929dup, NC_000018.9:g.21104928_21104929dup, NC_000018.9:g.21104927_21104929dup, NC_000018.9:g.21104926_21104929dup, NC_000018.9:g.21104925_21104929dup, NC_000018.9:g.21104924_21104929dup, NC_000018.9:g.21104923_21104929dup, NC_000018.9:g.21104922_21104929dup, NC_000018.9:g.21104921_21104929dup, NC_000018.9:g.21104920_21104929dup, NC_000018.9:g.21104919_21104929dup, NC_000018.9:g.21104917_21104929dup, NC_000018.9:g.21104916_21104929dup, NG_033119.1:g.26484_26496del, NG_033119.1:g.26485_26496del, NG_033119.1:g.26486_26496del, NG_033119.1:g.26487_26496del, NG_033119.1:g.26488_26496del, NG_033119.1:g.26489_26496del, NG_033119.1:g.26490_26496del, NG_033119.1:g.26491_26496del, NG_033119.1:g.26492_26496del, NG_033119.1:g.26493_26496del, NG_033119.1:g.26494_26496del, NG_033119.1:g.26495_26496del, NG_033119.1:g.26496del, NG_033119.1:g.26496dup, NG_033119.1:g.26495_26496dup, NG_033119.1:g.26494_26496dup, NG_033119.1:g.26493_26496dup, NG_033119.1:g.26492_26496dup, NG_033119.1:g.26491_26496dup, NG_033119.1:g.26490_26496dup, NG_033119.1:g.26489_26496dup, NG_033119.1:g.26488_26496dup, NG_033119.1:g.26487_26496dup, NG_033119.1:g.26486_26496dup, NG_033119.1:g.26484_26496dup, NG_033119.1:g.26483_26496dup

Select item 14909820736.

rs1490982073 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 18:23508252 (GRCh38)
18:21088216 (GRCh37)
Canonical SPDI:: NC_000018.10:23508251:G:A,NC_000018.10:23508251:G:C
Gene:: NPC1 (Varview), RMC1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.23508252G>A, NC_000018.10:g.23508252G>C, NC_000018.9:g.21088216G>A, NC_000018.9:g.21088216G>C, NG_033119.1:g.9783G>A, NG_033119.1:g.9783G>C

Select item 14907841447.

rs1490784144 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 18:23523570 (GRCh38)
18:21103534 (GRCh37)
Canonical SPDI:: NC_000018.10:23523569:G:
Gene:: NPC1 (Varview), RMC1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000018.10:g.23523570del, NC_000018.9:g.21103534del, NG_033119.1:g.25101del

Select item 14907533108.

rs1490753310 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 18:23525161 (GRCh38)
18:21105125 (GRCh37)
Canonical SPDI:: NC_000018.10:23525160:G:T
Gene:: NPC1 (Varview), RMC1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.23525161G>T, NC_000018.9:g.21105125G>T, NG_033119.1:g.26692G>T

Select item 14907507389.

rs1490750738 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:23507181 (GRCh38)
18:21087145 (GRCh37)
Canonical SPDI:: NC_000018.10:23507180:T:C
Gene:: NPC1 (Varview), RMC1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.23507181T>C, NC_000018.9:g.21087145T>C, NG_033119.1:g.8712T>C

Select item 149062019110.

rs1490620191 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 18:23522698 (GRCh38)
18:21102663 (GRCh37)
Canonical SPDI:: NC_000018.10:23522698:G:GG
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:: GG=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.23522699dup, NC_000018.9:g.21102663dup, NG_033119.1:g.24230dup, XM_006722479.4:c.*191dup, XM_006722479.3:c.*191dup, XM_006722479.2:c.*191dup, XM_006722479.1:c.*191dup, XM_017025787.2:c.*191dup, XM_017025787.1:c.*191dup

Select item 149037683111.

rs1490376831 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 18:23515506 (GRCh38)
18:21095470 (GRCh37)
Canonical SPDI:: NC_000018.10:23515505:G:C
Gene:: NPC1 (Varview), RMC1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.23515506G>C, NC_000018.9:g.21095470G>C, NG_033119.1:g.17037G>C

Select item 149035797812.

rs1490357978 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 18:23505494 (GRCh38)
18:21085458 (GRCh37)
Canonical SPDI:: NC_000018.10:23505493:G:A,NC_000018.10:23505493:G:C
Gene:: RMC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000018.10:g.23505494G>A, NC_000018.10:g.23505494G>C, NC_000018.9:g.21085458G>A, NC_000018.9:g.21085458G>C, NG_033119.1:g.7025G>A, NG_033119.1:g.7025G>C

Select item 149027879213.

rs1490278792 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:23528899 (GRCh38)
18:21108863 (GRCh37)
Canonical SPDI:: NC_000018.10:23528898:G:A
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:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000312/2 (1000Genomes)
HGVS:: NC_000018.10:g.23528899G>A, NC_000018.9:g.21108863G>A, NG_033119.1:g.30430G>A, XM_017025786.2:c.*788C>T, XM_017025786.1:c.*788C>T, XM_017025784.1:c.*788C>T, XM_017025785.1:c.*439C>T, XM_047437539.1:c.*439C>T

Select item 149024077014.

rs1490240770 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:23505706 (GRCh38)
18:21085670 (GRCh37)
Canonical SPDI:: NC_000018.10:23505705:G:A
Gene:: NPC1 (Varview), RMC1 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_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_000018.10:g.23505706G>A, NC_000018.9:g.21085670G>A, NG_033119.1:g.7237G>A

Select item 149004105115.

rs1490041051 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:23513472 (GRCh38)
18:21093436 (GRCh37)
Canonical SPDI:: NC_000018.10:23513471:C:T
Gene:: NPC1 (Varview), RMC1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_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.23513472C>T, NC_000018.9:g.21093436C>T, NG_033119.1:g.15003C>T

Select item 148988702816.

rs1489887028 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:23514944 (GRCh38)
18:21094908 (GRCh37)
Canonical SPDI:: NC_000018.10:23514943:A:G
Gene:: NPC1 (Varview), RMC1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_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_000018.10:g.23514944A>G, NC_000018.9:g.21094908A>G, NG_033119.1:g.16475A>G

Select item 148981311417.

rs1489813114 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:23521518 (GRCh38)
18:21101482 (GRCh37)
Canonical SPDI:: NC_000018.10:23521517:A:G
Gene:: NPC1 (Varview), RMC1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000018.10:g.23521518A>G, NC_000018.9:g.21101482A>G, NG_033119.1:g.23049A>G

Select item 148980651618.

rs1489806516 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:23509294 (GRCh38)
18:21089258 (GRCh37)
Canonical SPDI:: NC_000018.10:23509293:A:G
Gene:: NPC1 (Varview), RMC1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
HGVS:: NC_000018.10:g.23509294A>G, NC_000018.9:g.21089258A>G, NG_033119.1:g.10825A>G

Select item 148956039419.

rs1489560394 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:23513096 (GRCh38)
18:21093060 (GRCh37)
Canonical SPDI:: NC_000018.10:23513095:G:A
Gene:: NPC1 (Varview), RMC1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.23513096G>A, NC_000018.9:g.21093060G>A, NG_033119.1:g.14627G>A

Select item 148949277620.

rs1489492776 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 18:23516390 (GRCh38)
18:21096354 (GRCh37)
Canonical SPDI:: NC_000018.10:23516389:G:C
Gene:: NPC1 (Varview), RMC1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.23516390G>C, NC_000018.9:g.21096354G>C, NG_033119.1:g.17921G>C, NM_013326.5:c.620G>C, NM_013326.4:c.620G>C, NM_001318709.1:c.476G>C, NM_001318708.1:c.149G>C, NM_001318707.1:c.149G>C, NM_001276342.1:c.476G>C, NR_075076.1:n.684G>C, NR_075075.1:n.540G>C, XM_047437486.1:c.149G>C, XM_047437487.1:c.149G>C, XM_047437488.1:c.620G>C, NP_037458.3:p.Ser207Thr, NP_001305638.1:p.Ser159Thr, NP_001305637.1:p.Ser50Thr, NP_001305636.1:p.Ser50Thr, NP_001263271.1:p.Ser159Thr, XP_047293442.1:p.Ser50Thr, XP_047293443.1:p.Ser50Thr, XP_047293444.1:p.Ser207Thr

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