SNP Links for Gene (Select 105372420) - SNP

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Select item 14914541091.

rs1491454109 has merged into rs11345601 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 19:45155035 (GRCh38)
19:45658293 (GRCh37)
Canonical SPDI:: NC_000019.10:45155023:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:45155023:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:45155023:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:45155023:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:45155023:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:45155023:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:45155023:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:45155023:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:45155023:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45155023:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: NKPD1 (Varview), LOC105372420 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.1982/764 (ALSPAC)
A=0.357/1788 (1000Genomes)
HGVS:: NC_000019.10:g.45155035_45155043del, NC_000019.10:g.45155037_45155043del, NC_000019.10:g.45155038_45155043del, NC_000019.10:g.45155039_45155043del, NC_000019.10:g.45155040_45155043del, NC_000019.10:g.45155041_45155043del, NC_000019.10:g.45155042_45155043del, NC_000019.10:g.45155043del, NC_000019.10:g.45155043dup, NC_000019.10:g.45155042_45155043dup, NC_000019.9:g.45658293_45658301del, NC_000019.9:g.45658295_45658301del, NC_000019.9:g.45658296_45658301del, NC_000019.9:g.45658297_45658301del, NC_000019.9:g.45658298_45658301del, NC_000019.9:g.45658299_45658301del, NC_000019.9:g.45658300_45658301del, NC_000019.9:g.45658301del, NC_000019.9:g.45658301dup, NC_000019.9:g.45658300_45658301dup

Select item 14913770342.

rs1491377034 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 19:45155023 (GRCh38)
19:45658281 (GRCh37)
Canonical SPDI:: NC_000019.10:45155022:TA:
Gene:: NKPD1 (Varview), LOC105372420 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00016/11 (GnomAD)
-=0.00094/6 (1000Genomes)
HGVS:: NC_000019.10:g.45155023_45155024del, NC_000019.9:g.45658281_45658282del

Select item 14909394493.

rs1490939449 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:45156505 (GRCh38)
19:45659763 (GRCh37)
Canonical SPDI:: NC_000019.10:45156504:G:A
Gene:: NKPD1 (Varview), LOC105372420 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.45156505G>A, NC_000019.9:g.45659763G>A

Select item 14907403494.

rs1490740349 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 19:45155529 (GRCh38)
19:45658787 (GRCh37)
Canonical SPDI:: NC_000019.10:45155528:A:G,NC_000019.10:45155528:A:T
Gene:: NKPD1 (Varview), LOC105372420 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.45155529A>G, NC_000019.10:g.45155529A>T, NC_000019.9:g.45658787A>G, NC_000019.9:g.45658787A>T

Select item 14905845715.

rs1490584571 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:45153369 (GRCh38)
19:45656627 (GRCh37)
Canonical SPDI:: NC_000019.10:45153368:C:A,NC_000019.10:45153368:C:T
Gene:: NKPD1 (Varview), LOC105372420 (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.45153369C>A, NC_000019.10:g.45153369C>T, NC_000019.9:g.45656627C>A, NC_000019.9:g.45656627C>T, NM_198478.4:c.1068G>T, NM_198478.4:c.1068G>A, NM_198478.3:c.1068G>T, NM_198478.3:c.1068G>A, XM_011526799.3:c.1149G>T, XM_011526799.3:c.1149G>A, XM_011526799.2:c.1149G>T, XM_011526799.2:c.1149G>A, XM_011526799.1:c.1149G>T, XM_011526799.1:c.1149G>A, XM_011526804.3:c.711G>T, XM_011526804.3:c.711G>A, XM_011526804.2:c.711G>T, XM_011526804.2:c.711G>A, XM_011526804.1:c.711G>T, XM_011526804.1:c.711G>A, XM_011526805.3:c.543G>T, XM_011526805.3:c.543G>A, XM_011526805.2:c.543G>T, XM_011526805.2:c.543G>A, XM_011526805.1:c.543G>T, XM_011526805.1:c.543G>A, NM_001131067.1:c.429G>T, NM_001131067.1:c.429G>A

Select item 14905282326.

rs1490528232 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:45152727 (GRCh38)
19:45655985 (GRCh37)
Canonical SPDI:: NC_000019.10:45152726:G:T
Gene:: NKPD1 (Varview), LOC105372420 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.45152727G>T, NC_000019.9:g.45655985G>T, NM_198478.4:c.1710C>A, NM_198478.3:c.1710C>A, XM_011526799.3:c.1791C>A, XM_011526799.2:c.1791C>A, XM_011526799.1:c.1791C>A, XM_011526804.3:c.1353C>A, XM_011526804.2:c.1353C>A, XM_011526804.1:c.1353C>A, XM_011526805.3:c.1185C>A, XM_011526805.2:c.1185C>A, XM_011526805.1:c.1185C>A, NM_001131067.1:c.1071C>A, NP_940880.3:p.Ser570Arg, XP_011525101.1:p.Ser597Arg, XP_011525106.1:p.Ser451Arg, XP_011525107.1:p.Ser395Arg

Select item 14902504097.

rs1490250409 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:45155117 (GRCh38)
19:45658375 (GRCh37)
Canonical SPDI:: NC_000019.10:45155116:C:G,NC_000019.10:45155116:C:T
Gene:: NKPD1 (Varview), LOC105372420 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.45155117C>G, NC_000019.10:g.45155117C>T, NC_000019.9:g.45658375C>G, NC_000019.9:g.45658375C>T

Select item 14900398908.

rs1490039890 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:45153019 (GRCh38)
19:45656277 (GRCh37)
Canonical SPDI:: NC_000019.10:45153018:A:G
Gene:: NKPD1 (Varview), LOC105372420 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.45153019A>G, NC_000019.9:g.45656277A>G, NM_198478.4:c.1418T>C, NM_198478.3:c.1418T>C, XM_011526799.3:c.1499T>C, XM_011526799.2:c.1499T>C, XM_011526799.1:c.1499T>C, XM_011526804.3:c.1061T>C, XM_011526804.2:c.1061T>C, XM_011526804.1:c.1061T>C, XM_011526805.3:c.893T>C, XM_011526805.2:c.893T>C, XM_011526805.1:c.893T>C, NM_001131067.1:c.779T>C, NP_940880.3:p.Leu473Pro, XP_011525101.1:p.Leu500Pro, XP_011525106.1:p.Leu354Pro, XP_011525107.1:p.Leu298Pro

Select item 14897963579.

rs1489796357 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:45156037 (GRCh38)
19:45659295 (GRCh37)
Canonical SPDI:: NC_000019.10:45156036:A:T
Gene:: NKPD1 (Varview), LOC105372420 (Varview)
Functional Consequence:: intron_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.45156037A>T, NC_000019.9:g.45659295A>T

Select item 148896740410.

rs1488967404 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:45152017 (GRCh38)
19:45655275 (GRCh37)
Canonical SPDI:: NC_000019.10:45152016:T:G
Gene:: NKPD1 (Varview), LOC105372420 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.45152017T>G, NC_000019.9:g.45655275T>G, NM_198478.4:c.2420A>C, NM_198478.3:c.2420A>C, XM_011526799.3:c.2501A>C, XM_011526799.2:c.2501A>C, XM_011526799.1:c.2501A>C, XM_011526804.3:c.2063A>C, XM_011526804.2:c.2063A>C, XM_011526804.1:c.2063A>C, XM_011526805.3:c.1895A>C, XM_011526805.2:c.1895A>C, XM_011526805.1:c.1895A>C, NM_001131067.1:c.1781A>C, NP_940880.3:p.Asp807Ala, XP_011525101.1:p.Asp834Ala, XP_011525106.1:p.Asp688Ala, XP_011525107.1:p.Asp632Ala

Select item 148882181411.

rs1488821814 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:45155674 (GRCh38)
19:45658932 (GRCh37)
Canonical SPDI:: NC_000019.10:45155673:T:G
Gene:: NKPD1 (Varview), LOC105372420 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.01425/169 (ALFA)
G=0.02022/59 (KOREAN)
HGVS:: NC_000019.10:g.45155674T>G, NC_000019.9:g.45658932T>G

Select item 148771791012.

rs1487717910 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 19:45154065 (GRCh38)
19:45657323 (GRCh37)
Canonical SPDI:: NC_000019.10:45154061:AGAGA:AGA
Gene:: NKPD1 (Varview), LOC105372420 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGA=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.45154063GA[1], NC_000019.9:g.45657321GA[1]

Select item 148718719413.

rs1487187194 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:45157804 (GRCh38)
19:45661062 (GRCh37)
Canonical SPDI:: NC_000019.10:45157803:A:G
Gene:: NKPD1 (Varview), LOC105372420 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/1 (GnomAD)
HGVS:: NC_000019.10:g.45157804A>G, NC_000019.9:g.45661062A>G

Select item 148670206114.

rs1486702061 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:45152591 (GRCh38)
19:45655849 (GRCh37)
Canonical SPDI:: NC_000019.10:45152590:G:C
Gene:: NKPD1 (Varview), LOC105372420 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.45152591G>C, NC_000019.9:g.45655849G>C, NM_198478.4:c.1846C>G, NM_198478.3:c.1846C>G, XM_011526799.3:c.1927C>G, XM_011526799.2:c.1927C>G, XM_011526799.1:c.1927C>G, XM_011526804.3:c.1489C>G, XM_011526804.2:c.1489C>G, XM_011526804.1:c.1489C>G, XM_011526805.3:c.1321C>G, XM_011526805.2:c.1321C>G, XM_011526805.1:c.1321C>G, NM_001131067.1:c.1207C>G, NP_940880.3:p.Pro616Ala, XP_011525101.1:p.Pro643Ala, XP_011525106.1:p.Pro497Ala, XP_011525107.1:p.Pro441Ala

Select item 148639255415.

rs1486392554 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:45153078 (GRCh38)
19:45656336 (GRCh37)
Canonical SPDI:: NC_000019.10:45153077:G:A,NC_000019.10:45153077:G:C
Gene:: NKPD1 (Varview), LOC105372420 (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.00014/2 (TOMMO)
HGVS:: NC_000019.10:g.45153078G>A, NC_000019.10:g.45153078G>C, NC_000019.9:g.45656336G>A, NC_000019.9:g.45656336G>C, NM_198478.4:c.1359C>T, NM_198478.4:c.1359C>G, NM_198478.3:c.1359C>T, NM_198478.3:c.1359C>G, XM_011526799.3:c.1440C>T, XM_011526799.3:c.1440C>G, XM_011526799.2:c.1440C>T, XM_011526799.2:c.1440C>G, XM_011526799.1:c.1440C>T, XM_011526799.1:c.1440C>G, XM_011526804.3:c.1002C>T, XM_011526804.3:c.1002C>G, XM_011526804.2:c.1002C>T, XM_011526804.2:c.1002C>G, XM_011526804.1:c.1002C>T, XM_011526804.1:c.1002C>G, XM_011526805.3:c.834C>T, XM_011526805.3:c.834C>G, XM_011526805.2:c.834C>T, XM_011526805.2:c.834C>G, XM_011526805.1:c.834C>T, XM_011526805.1:c.834C>G, NM_001131067.1:c.720C>T, NM_001131067.1:c.720C>G

Select item 148589697816.

rs1485896978 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCTGGAGCCGGGCTTGGACCGG [Show Flanks]
Chromosome:: 19:45153959 (GRCh38)
19:45657218 (GRCh37)
Canonical SPDI:: NC_000019.10:45153959:GGCCTGGAGCCGGGCTTGGACCGG:GGCCTGGAGCCGGGCTTGGACCGGCCTGGAGCCGGGCTTGGACCGG
Gene:: NKPD1 (Varview), LOC105372420 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGCCTGGAGCCGGGCTTGGACCGGCCTGGAGCCGGGCTTGGACCGG=0./0 (ALFA)
GGCCTGGAGCCGGGCTTGGACC=0.000004/1 (TOPMED)
GGCCTGGAGCCGGGCTTGGACC=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.45153962_45153983dup, NC_000019.9:g.45657220_45657241dup

Select item 148583051517.

rs1485830515 [Homo sapiens]

Variant type:: DEL
Alleles:: AAAAG>- [Show Flanks]
Chromosome:: 19:45155040 (GRCh38)
19:45658298 (GRCh37)
Canonical SPDI:: NC_000019.10:45155039:AAAAG:
Gene:: NKPD1 (Varview), LOC105372420 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000036/5 (GnomAD)
-=0.000625/4 (1000Genomes)
HGVS:: NC_000019.10:g.45155040_45155044del, NC_000019.9:g.45658298_45658302del

Select item 148550666918.

rs1485506669 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:45154107 (GRCh38)
19:45657365 (GRCh37)
Canonical SPDI:: NC_000019.10:45154106:A:G
Gene:: NKPD1 (Varview), LOC105372420 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.45154107A>G, NC_000019.9:g.45657365A>G

Select item 148413132819.

rs1484131328 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:45153799 (GRCh38)
19:45657057 (GRCh37)
Canonical SPDI:: NC_000019.10:45153798:C:A,NC_000019.10:45153798:C:T
Gene:: NKPD1 (Varview), LOC105372420 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.00009/4 (GnomAD_exomes)
HGVS:: NC_000019.10:g.45153799C>A, NC_000019.10:g.45153799C>T, NC_000019.9:g.45657057C>A, NC_000019.9:g.45657057C>T

Select item 148406998720.

rs1484069987 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:45153296 (GRCh38)
19:45656554 (GRCh37)
Canonical SPDI:: NC_000019.10:45153295:C:T
Gene:: NKPD1 (Varview), LOC105372420 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00001/2 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.45153296C>T, NC_000019.9:g.45656554C>T, NM_198478.4:c.1141G>A, NM_198478.3:c.1141G>A, XM_011526799.3:c.1222G>A, XM_011526799.2:c.1222G>A, XM_011526799.1:c.1222G>A, XM_011526804.3:c.784G>A, XM_011526804.2:c.784G>A, XM_011526804.1:c.784G>A, XM_011526805.3:c.616G>A, XM_011526805.2:c.616G>A, XM_011526805.1:c.616G>A, NM_001131067.1:c.502G>A, NP_940880.3:p.Gly381Ser, XP_011525101.1:p.Gly408Ser, XP_011525106.1:p.Gly262Ser, XP_011525107.1:p.Gly206Ser

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