SNP Links for Gene (Select 27344) - SNP

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Select item 14909730871.

rs1490973087 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: X:48833490 (GRCh38)
X:48691900 (GRCh37)
Canonical SPDI:: NC_000023.11:48833489:T:A,NC_000023.11:48833489:T:C
Gene:: PCSK1N (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.48833490T>A, NC_000023.11:g.48833490T>C, NW_004070880.2:g.1072919T>A, NW_004070880.2:g.1072919T>C, NC_000023.10:g.48691900T>A, NC_000023.10:g.48691900T>C

Select item 14909477402.

rs1490947740 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: X:48834820 (GRCh38)
X:-1 (GRCh37)
Canonical SPDI:: NC_000023.11:48834819:C:A,NC_000023.11:48834819:C:G
Gene:: PCSK1N (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.45089/5031 (ALFA)
G=0.42124/8394 (TOMMO)
HGVS:: NC_000023.11:g.48834820C>A, NC_000023.11:g.48834820C>G, NW_004070880.2:g.1074249C>A, NW_004070880.2:g.1074249C>G

Select item 14904526313.

rs1490452631 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:48835412 (GRCh38)
X:48693814 (GRCh37)
Canonical SPDI:: NC_000023.11:48835411:G:A
Gene:: PCSK1N (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000029/3 (GnomAD)
A=0.000136/36 (TOPMED)
HGVS:: NC_000023.11:g.48835412G>A, NW_004070880.2:g.1074841G>A, NC_000023.10:g.48693814G>A

Select item 14904274034.

rs1490427403 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:48836893 (GRCh38)
X:48695294 (GRCh37)
Canonical SPDI:: NC_000023.11:48836892:G:A
Gene:: PCSK1N (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000042/11 (TOPMED)
A=0.000048/5 (GnomAD)
HGVS:: NC_000023.11:g.48836893G>A, NW_004070880.2:g.1076322G>A, NC_000023.10:g.48695294G>A

Select item 14901556815.

rs1490155681 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:48832692 (GRCh38)
X:48691102 (GRCh37)
Canonical SPDI:: NC_000023.11:48832691:A:T
Gene:: PCSK1N (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000023/6 (TOPMED)
T=0.000029/3 (GnomAD)
HGVS:: NC_000023.11:g.48832692A>T, NW_004070880.2:g.1072121A>T, NC_000023.10:g.48691102A>T

Select item 14901296796.

rs1490129679 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:48834297 (GRCh38)
X:48692707 (GRCh37)
Canonical SPDI:: NC_000023.11:48834296:G:T
Gene:: PCSK1N (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.48834297G>T, NW_004070880.2:g.1073726G>T, NC_000023.10:g.48692707G>T

Select item 14896298047.

rs1489629804 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:48835950 (GRCh38)
X:48694351 (GRCh37)
Canonical SPDI:: NC_000023.11:48835949:C:T
Gene:: PCSK1N (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.48835950C>T, NW_004070880.2:g.1075379C>T, NC_000023.10:g.48694351C>T

Select item 14891538378.

rs1489153837 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:48836637 (GRCh38)
X:48695038 (GRCh37)
Canonical SPDI:: NC_000023.11:48836636:C:T
Gene:: PCSK1N (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.48836637C>T, NW_004070880.2:g.1076066C>T, NC_000023.10:g.48695038C>T

Select item 14875154349.

rs1487515434 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: X:48835813 (GRCh38)
X:48694214 (GRCh37)
Canonical SPDI:: NC_000023.11:48835812:T:
Gene:: PCSK1N (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000015/4 (TOPMED)
-=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.48835813del, NW_004070880.2:g.1075242del, NC_000023.10:g.48694214del

Select item 148746881810.

rs1487468818 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:48837494 (GRCh38)
X:48695895 (GRCh37)
Canonical SPDI:: NC_000023.11:48837493:C:G
Gene:: PCSK1N (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.48837494C>G, NW_004070880.2:g.1076923C>G, NC_000023.10:g.48695895C>G

Select item 148726324311.

rs1487263243 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:48830908 (GRCh38)
X:48689318 (GRCh37)
Canonical SPDI:: NC_000023.11:48830907:A:G
Gene:: PCSK1N (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.48830908A>G, NW_004070880.2:g.1070337A>G, NC_000023.10:g.48689318A>G

Select item 148678064212.

rs1486780642 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:48835295 (GRCh38)
X:48693697 (GRCh37)
Canonical SPDI:: NC_000023.11:48835294:C:A
Gene:: PCSK1N (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000214/3 (ALFA)
A=0.000026/7 (TOPMED)
A=0.000038/4 (GnomAD)
HGVS:: NC_000023.11:g.48835295C>A, NW_004070880.2:g.1074724C>A, NC_000023.10:g.48693697C>A

Select item 148611876813.

rs1486118768 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: X:48830648 (GRCh38)
X:48689059 (GRCh37)
Canonical SPDI:: NC_000023.11:48830648:A:AA
Gene:: PCSK1N (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.48830649dup, NW_004070880.2:g.1070078dup, NC_000023.10:g.48689059dup

Select item 148556367114.

rs1485563671 has merged into rs1185978533 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTAATAAAAT>-,GTGTAATAAAATGTGTAATAAAAT [Show Flanks]
Chromosome:: X:48837382 (GRCh38)
X:48695783 (GRCh37)
Canonical SPDI:: NC_000023.11:48837370:TGTAATAAAATGTGTAATAAAAT:TGTAATAAAAT,NC_000023.11:48837370:TGTAATAAAATGTGTAATAAAAT:TGTAATAAAATGTGTAATAAAATGTGTAATAAAAT
Gene:: PCSK1N (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTAATAAAATGTGTAATAAAATGTGTAATAAAAT=0./0 (ALFA)
HGVS:: NC_000023.11:g.48837382_48837393del, NC_000023.11:g.48837382_48837393dup, NW_004070880.2:g.1076811_1076822del, NW_004070880.2:g.1076811_1076822dup, NC_000023.10:g.48695783_48695794del, NC_000023.10:g.48695783_48695794dup

Select item 148525402815.

rs1485254028 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:48833472 (GRCh38)
X:48691882 (GRCh37)
Canonical SPDI:: NC_000023.11:48833471:T:C
Gene:: PCSK1N (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000029/3 (GnomAD)
HGVS:: NC_000023.11:g.48833472T>C, NW_004070880.2:g.1072901T>C, NC_000023.10:g.48691882T>C

Select item 148369530116.

rs1483695301 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:48832218 (GRCh38)
X:48690628 (GRCh37)
Canonical SPDI:: NC_000023.11:48832217:C:T
Gene:: PCSK1N (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.48832218C>T, NW_004070880.2:g.1071647C>T, NC_000023.10:g.48690628C>T, NM_013271.5:c.238G>A, NM_013271.4:c.238G>A, NM_013271.3:c.238G>A, NP_037403.1:p.Ala80Thr

Select item 148302593317.

rs1483025933 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:48831154 (GRCh38)
X:48689564 (GRCh37)
Canonical SPDI:: NC_000023.11:48831153:G:A
Gene:: PCSK1N (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000048/5 (GnomAD)
A=0.000181/48 (TOPMED)
HGVS:: NC_000023.11:g.48831154G>A, NW_004070880.2:g.1070583G>A, NC_000023.10:g.48689564G>A, NM_013271.5:c.*106C>T, NM_013271.4:c.*106C>T, NM_013271.3:c.*106C>T

Select item 148242887718.

rs1482428877 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: X:48832349 (GRCh38)
X:48690759 (GRCh37)
Canonical SPDI:: NC_000023.11:48832348:AAAA:AAA
Gene:: PCSK1N (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000029/3 (GnomAD)
HGVS:: NC_000023.11:g.48832352del, NW_004070880.2:g.1071781del, NC_000023.10:g.48690762del

Select item 148222429919.

rs1482224299 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:48836413 (GRCh38)
X:48694814 (GRCh37)
Canonical SPDI:: NC_000023.11:48836412:A:G
Gene:: PCSK1N (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.48836413A>G, NW_004070880.2:g.1075842A>G, NC_000023.10:g.48694814A>G

Select item 148173507420.

rs1481735074 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:48833625 (GRCh38)
X:48692035 (GRCh37)
Canonical SPDI:: NC_000023.11:48833624:A:G
Gene:: PCSK1N (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.48833625A>G, NW_004070880.2:g.1073054A>G, NC_000023.10:g.48692035A>G

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