SNP Links for Gene (Select 3817) - SNP

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Select item 14915037831.

rs1491503783 has merged into rs34627545 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT [Show Flanks]
Chromosome:: 19:50872153 (GRCh38)
19:51375409 (GRCh37)
Canonical SPDI:: NC_000019.10:50872141:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:50872141:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:50872141:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:50872141:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:50872141:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:50872141:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:50872141:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
Gene:: KLK2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000019.10:g.50872153_50872157del, NC_000019.10:g.50872156_50872157del, NC_000019.10:g.50872157del, NC_000019.10:g.50872157dup, NC_000019.10:g.50872156_50872157dup, NC_000019.10:g.50872155_50872157dup, NC_000019.10:g.50872154_50872157dup, NC_000019.9:g.51375409_51375413del, NC_000019.9:g.51375412_51375413del, NC_000019.9:g.51375413del, NC_000019.9:g.51375413dup, NC_000019.9:g.51375412_51375413dup, NC_000019.9:g.51375411_51375413dup, NC_000019.9:g.51375410_51375413dup, NG_042791.2:g.5834_5838del, NG_042791.2:g.5837_5838del, NG_042791.2:g.5838del, NG_042791.2:g.5838dup, NG_042791.2:g.5837_5838dup, NG_042791.2:g.5836_5838dup, NG_042791.2:g.5835_5838dup, NG_031984.1:g.3721_3725del, NG_031984.1:g.3724_3725del, NG_031984.1:g.3725del, NG_031984.1:g.3725dup, NG_031984.1:g.3724_3725dup, NG_031984.1:g.3723_3725dup, NG_031984.1:g.3722_3725dup

Select item 14914472402.

rs1491447240 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 19:50872141 (GRCh38)
19:51375397 (GRCh37)
Canonical SPDI:: NC_000019.10:50872140:AT:
Gene:: KLK2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000019.10:g.50872141_50872142del, NC_000019.9:g.51375397_51375398del, NG_042791.2:g.5822_5823del, NG_031984.1:g.3709_3710del

Select item 14913297763.

rs1491329776 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 19:50871979 (GRCh38)
19:51375235 (GRCh37)
Canonical SPDI:: NC_000019.10:50871978:TG:
Gene:: KLK2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000019.10:g.50871979_50871980del, NC_000019.9:g.51375235_51375236del, NG_042791.2:g.5660_5661del, NG_031984.1:g.3547_3548del

Select item 14912178204.

rs1491217820 has merged into rs35607923 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 19:50871832 (GRCh38)
19:51375088 (GRCh37)
Canonical SPDI:: NC_000019.10:50871823:TTTTTTTTTT:TTTTTTTT,NC_000019.10:50871823:TTTTTTTTTT:TTTTTTTTT,NC_000019.10:50871823:TTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:50871823:TTTTTTTTTT:TTTTTTTTTTTT
Gene:: KLK2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.4234/1323 (1000Genomes)
HGVS:: NC_000019.10:g.50871832_50871833del, NC_000019.10:g.50871833del, NC_000019.10:g.50871833dup, NC_000019.10:g.50871832_50871833dup, NC_000019.9:g.51375088_51375089del, NC_000019.9:g.51375089del, NC_000019.9:g.51375089dup, NC_000019.9:g.51375088_51375089dup, NG_042791.2:g.5513_5514del, NG_042791.2:g.5514del, NG_042791.2:g.5514dup, NG_042791.2:g.5513_5514dup, NG_031984.1:g.3400_3401del, NG_031984.1:g.3401del, NG_031984.1:g.3401dup, NG_031984.1:g.3400_3401dup

Select item 14910496555.

rs1491049655 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:50874232 (GRCh38)
19:51377488 (GRCh37)
Canonical SPDI:: NC_000019.10:50874230:ACA:A
Gene:: KLK2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.50874232_50874233del, NC_000019.9:g.51377488_51377489del, NG_031984.1:g.5800_5801del

Select item 14910190896.

rs1491019089 has merged into rs35607923 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 19:50871832 (GRCh38)
19:51375088 (GRCh37)
Canonical SPDI:: NC_000019.10:50871823:TTTTTTTTTT:TTTTTTTT,NC_000019.10:50871823:TTTTTTTTTT:TTTTTTTTT,NC_000019.10:50871823:TTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:50871823:TTTTTTTTTT:TTTTTTTTTTTT
Gene:: KLK2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.4234/1323 (1000Genomes)
HGVS:: NC_000019.10:g.50871832_50871833del, NC_000019.10:g.50871833del, NC_000019.10:g.50871833dup, NC_000019.10:g.50871832_50871833dup, NC_000019.9:g.51375088_51375089del, NC_000019.9:g.51375089del, NC_000019.9:g.51375089dup, NC_000019.9:g.51375088_51375089dup, NG_042791.2:g.5513_5514del, NG_042791.2:g.5514del, NG_042791.2:g.5514dup, NG_042791.2:g.5513_5514dup, NG_031984.1:g.3400_3401del, NG_031984.1:g.3401del, NG_031984.1:g.3401dup, NG_031984.1:g.3400_3401dup

Select item 14907649087.

rs1490764908 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:50879728 (GRCh38)
19:51382984 (GRCh37)
Canonical SPDI:: NC_000019.10:50879727:C:T
Gene:: KLK2 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000019.10:g.50879728C>T, NC_000019.9:g.51382984C>T, NG_031984.1:g.11296C>T, NM_005551.5:c.*1169C>T, NM_005551.4:c.*1169C>T, NM_001002231.3:c.*1320C>T, NM_001002231.2:c.*1320C>T, NR_045763.2:n.2076C>T, NR_045763.1:n.2082C>T, NR_045762.2:n.2014C>T, NR_045762.1:n.2020C>T, NM_001256080.2:c.*1169C>T, NM_001256080.1:c.*1169C>T, NM_001002232.2:c.*1484C>T, NM_001002232.1:c.*1484C>T

Select item 14896171088.

rs1489617108 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:50871996 (GRCh38)
19:51375252 (GRCh37)
Canonical SPDI:: NC_000019.10:50871995:C:G,NC_000019.10:50871995:C:T
Gene:: KLK2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.01/44 (Estonian)
HGVS:: NC_000019.10:g.50871996C>G, NC_000019.10:g.50871996C>T, NC_000019.9:g.51375252C>G, NC_000019.9:g.51375252C>T, NG_042791.2:g.5677C>G, NG_042791.2:g.5677C>T, NG_031984.1:g.3564C>G, NG_031984.1:g.3564C>T

Select item 14892912949.

rs1489291294 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:50873050 (GRCh38)
19:51376306 (GRCh37)
Canonical SPDI:: NC_000019.10:50873049:G:A
Gene:: KLK2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000132/2 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000446/2 (Estonian)
HGVS:: NC_000019.10:g.50873050G>A, NC_000019.9:g.51376306G>A, NG_042791.2:g.6731G>A, NG_031984.1:g.4618G>A

Select item 148919604210.

rs1489196042 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:50877686 (GRCh38)
19:51380942 (GRCh37)
Canonical SPDI:: NC_000019.10:50877685:C:T
Gene:: KLK2 (Varview)
Functional Consequence:: intron_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_000019.10:g.50877686C>T, NC_000019.9:g.51380942C>T, NG_031984.1:g.9254C>T

Select item 148813951711.

rs1488139517 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:50873254 (GRCh38)
19:51376510 (GRCh37)
Canonical SPDI:: NC_000019.10:50873253:A:T
Gene:: KLK2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.50873254A>T, NC_000019.9:g.51376510A>T, NG_042791.2:g.6935A>T, NG_031984.1:g.4822A>T

Select item 148812296412.

rs1488122964 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:50875790 (GRCh38)
19:51379046 (GRCh37)
Canonical SPDI:: NC_000019.10:50875789:C:A
Gene:: KLK2 (Varview)
Functional Consequence:: intron_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_000019.10:g.50875790C>A, NC_000019.9:g.51379046C>A, NG_031984.1:g.7358C>A

Select item 148714403313.

rs1487144033 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:50876085 (GRCh38)
19:51379341 (GRCh37)
Canonical SPDI:: NC_000019.10:50876084:T:A
Gene:: KLK2 (Varview)
Functional Consequence:: intron_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_000019.10:g.50876085T>A, NC_000019.9:g.51379341T>A, NG_031984.1:g.7653T>A

Select item 148619444214.

rs1486194442 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:50877486 (GRCh38)
19:51380742 (GRCh37)
Canonical SPDI:: NC_000019.10:50877485:G:C
Gene:: KLK2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.50877486G>C, NC_000019.9:g.51380742G>C, NG_031984.1:g.9054G>C

Select item 148618405015.

rs1486184050 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:50874283 (GRCh38)
19:51377539 (GRCh37)
Canonical SPDI:: NC_000019.10:50874282:A:G
Gene:: KLK2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.50874283A>G, NC_000019.9:g.51377539A>G, NG_031984.1:g.5851A>G

Select item 148599094616.

rs1485990946 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:50874833 (GRCh38)
19:51378089 (GRCh37)
Canonical SPDI:: NC_000019.10:50874832:C:G,NC_000019.10:50874832:C:T
Gene:: KLK2 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.50874833C>G, NC_000019.10:g.50874833C>T, NC_000019.9:g.51378089C>G, NC_000019.9:g.51378089C>T, NG_031984.1:g.6401C>G, NG_031984.1:g.6401C>T, NM_005551.5:c.159C>G, NM_005551.5:c.159C>T, NM_005551.4:c.159C>G, NM_005551.4:c.159C>T, NM_001002231.3:c.159C>G, NM_001002231.3:c.159C>T, NM_001002231.2:c.159C>G, NM_001002231.2:c.159C>T, NR_045763.2:n.194C>G, NR_045763.2:n.194C>T, NR_045763.1:n.200C>G, NR_045763.1:n.200C>T, NR_045762.2:n.194C>G, NR_045762.2:n.194C>T, NR_045762.1:n.200C>G, NR_045762.1:n.200C>T, NM_001002232.2:c.159C>G, NM_001002232.2:c.159C>T, NM_001002232.1:c.159C>G, NM_001002232.1:c.159C>T

Select item 148566207417.

rs1485662074 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:50873490 (GRCh38)
19:51376746 (GRCh37)
Canonical SPDI:: NC_000019.10:50873489:T:C
Gene:: KLK2 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.50873490T>C, NC_000019.9:g.51376746T>C, NG_042791.2:g.7171T>C, NG_031984.1:g.5058T>C, NM_005551.5:c.17T>C, NM_005551.4:c.17T>C, NM_001002231.3:c.17T>C, NM_001002231.2:c.17T>C, NR_045763.2:n.52T>C, NR_045763.1:n.58T>C, NR_045762.2:n.52T>C, NR_045762.1:n.58T>C, NM_001256080.2:c.-130T>C, NM_001256080.1:c.-130T>C, NM_001002232.2:c.17T>C, NM_001002232.1:c.17T>C, NP_005542.1:p.Leu6Pro, NP_001002231.1:p.Leu6Pro

Select item 148533338218.

rs1485333382 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:50871796 (GRCh38)
19:51375052 (GRCh37)
Canonical SPDI:: NC_000019.10:50871795:C:T
Gene:: KLK2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000019.10:g.50871796C>T, NC_000019.9:g.51375052C>T, NG_042791.2:g.5477C>T, NG_031984.1:g.3364C>T

Select item 148482024019.

rs1484820240 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 19:50877923 (GRCh38)
19:51381180 (GRCh37)
Canonical SPDI:: NC_000019.10:50877923:T:TT
Gene:: KLK2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.50877924dup, NC_000019.9:g.51381180dup, NG_031984.1:g.9492dup

Select item 148461313920.

rs1484613139 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:50875588 (GRCh38)
19:51378844 (GRCh37)
Canonical SPDI:: NC_000019.10:50875587:C:A
Gene:: KLK2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.50875588C>A, NC_000019.9:g.51378844C>A, NG_031984.1:g.7156C>A

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