SNP Links for Gene (Select 5306) - SNP

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Select item 14915857981.

rs1491585798 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 17:1529138 (GRCh38)
17:1432433 (GRCh37)
Canonical SPDI:: NC_000017.11:1529138::C
Gene:: PITPNA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.06427/2164 (GnomAD)
HGVS:: NC_000017.11:g.1529138_1529139insC, NC_000017.10:g.1432432_1432433insC, NG_013017.1:g.38678_38679insG

Select item 14915841002.

rs1491584100 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C,CC [Show Flanks]
Chromosome:: 17:1558767 (GRCh38)
17:1462062 (GRCh37)
Canonical SPDI:: NC_000017.11:1558767:C:CC,NC_000017.11:1558767:C:CCC
Gene:: PITPNA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0./0 (ALFA)
C=0.01071/337 (GnomAD)
HGVS:: NC_000017.11:g.1558768dup, NC_000017.11:g.1558768_1558769insCC, NC_000017.10:g.1462062dup, NC_000017.10:g.1462062_1462063insCC, NG_013017.1:g.9049dup, NG_013017.1:g.9049_9050insGG

Select item 14914540313.

rs1491454031 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:1563700 (GRCh38)
17:1466994 (GRCh37)
Canonical SPDI:: NC_000017.11:1563699:CA:
Gene:: PITPNA (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00006/1 (GnomAD)
HGVS:: NC_000017.11:g.1563700_1563701del, NC_000017.10:g.1466994_1466995del, NG_013017.1:g.4116_4117del

Select item 14914214724.

rs1491421472 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 17:1558769 (GRCh38)
17:1462063 (GRCh37)
Canonical SPDI:: NC_000017.11:1558766:ACAC:AC
Gene:: PITPNA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ACAC=0.00008/1 (ALFA)
HGVS:: NC_000017.11:g.1558767AC[1], NC_000017.10:g.1462061AC[1], NG_013017.1:g.9047GT[1]

Select item 14913614705.

rs1491361470 has merged into rs398041515 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:1524354 (GRCh38)
17:1427648 (GRCh37)
Canonical SPDI:: NC_000017.11:1524343:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:1524343:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:1524343:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:1524343:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:1524343:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:1524343:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:1524343:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:1524343:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:1524343:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:1524343:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:1524343:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:1524343:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:1524343:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:1524343:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:1524343:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PITPNA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.046823/28 (NorthernSweden)
-=0.083466/418 (1000Genomes)
-=0.148677/573 (ALSPAC)
HGVS:: NC_000017.11:g.1524354_1524362del, NC_000017.11:g.1524355_1524362del, NC_000017.11:g.1524356_1524362del, NC_000017.11:g.1524357_1524362del, NC_000017.11:g.1524358_1524362del, NC_000017.11:g.1524359_1524362del, NC_000017.11:g.1524360_1524362del, NC_000017.11:g.1524361_1524362del, NC_000017.11:g.1524362del, NC_000017.11:g.1524362dup, NC_000017.11:g.1524361_1524362dup, NC_000017.11:g.1524360_1524362dup, NC_000017.11:g.1524359_1524362dup, NC_000017.11:g.1524358_1524362dup, NC_000017.11:g.1524356_1524362dup, NC_000017.10:g.1427648_1427656del, NC_000017.10:g.1427649_1427656del, NC_000017.10:g.1427650_1427656del, NC_000017.10:g.1427651_1427656del, NC_000017.10:g.1427652_1427656del, NC_000017.10:g.1427653_1427656del, NC_000017.10:g.1427654_1427656del, NC_000017.10:g.1427655_1427656del, NC_000017.10:g.1427656del, NC_000017.10:g.1427656dup, NC_000017.10:g.1427655_1427656dup, NC_000017.10:g.1427654_1427656dup, NC_000017.10:g.1427653_1427656dup, NC_000017.10:g.1427652_1427656dup, NC_000017.10:g.1427650_1427656dup, NG_013017.1:g.43465_43473del, NG_013017.1:g.43466_43473del, NG_013017.1:g.43467_43473del, NG_013017.1:g.43468_43473del, NG_013017.1:g.43469_43473del, NG_013017.1:g.43470_43473del, NG_013017.1:g.43471_43473del, NG_013017.1:g.43472_43473del, NG_013017.1:g.43473del, NG_013017.1:g.43473dup, NG_013017.1:g.43472_43473dup, NG_013017.1:g.43471_43473dup, NG_013017.1:g.43470_43473dup, NG_013017.1:g.43469_43473dup, NG_013017.1:g.43467_43473dup

Select item 14913431876.

rs1491343187 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 17:1545917 (GRCh38)
17:1449211 (GRCh37)
Canonical SPDI:: NC_000017.11:1545916:CT:
Gene:: PITPNA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000009/1 (GnomAD)
HGVS:: NC_000017.11:g.1545917_1545918del, NC_000017.10:g.1449211_1449212del, NG_013017.1:g.21899_21900del

Select item 14913311757.

rs1491331175 has merged into rs11322049 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:1545929 (GRCh38)
17:1449223 (GRCh37)
Canonical SPDI:: NC_000017.11:1545917:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:1545917:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:1545917:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:1545917:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:1545917:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:1545917:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:1545917:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:1545917:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:1545917:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:1545917:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:1545917:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:1545917:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:1545917:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:1545917:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:1545917:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:1545917:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:1545917:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:1545917:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:1545917:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:1545917:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:1545917:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:1545917:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:1545917:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PITPNA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000017.11:g.1545929_1545942del, NC_000017.11:g.1545932_1545942del, NC_000017.11:g.1545933_1545942del, NC_000017.11:g.1545934_1545942del, NC_000017.11:g.1545935_1545942del, NC_000017.11:g.1545936_1545942del, NC_000017.11:g.1545937_1545942del, NC_000017.11:g.1545938_1545942del, NC_000017.11:g.1545939_1545942del, NC_000017.11:g.1545940_1545942del, NC_000017.11:g.1545941_1545942del, NC_000017.11:g.1545942del, NC_000017.11:g.1545942dup, NC_000017.11:g.1545941_1545942dup, NC_000017.11:g.1545940_1545942dup, NC_000017.11:g.1545939_1545942dup, NC_000017.11:g.1545938_1545942dup, NC_000017.11:g.1545937_1545942dup, NC_000017.11:g.1545936_1545942dup, NC_000017.11:g.1545935_1545942dup, NC_000017.11:g.1545934_1545942dup, NC_000017.11:g.1545932_1545942dup, NC_000017.11:g.1545942_1545943insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.1449223_1449236del, NC_000017.10:g.1449226_1449236del, NC_000017.10:g.1449227_1449236del, NC_000017.10:g.1449228_1449236del, NC_000017.10:g.1449229_1449236del, NC_000017.10:g.1449230_1449236del, NC_000017.10:g.1449231_1449236del, NC_000017.10:g.1449232_1449236del, NC_000017.10:g.1449233_1449236del, NC_000017.10:g.1449234_1449236del, NC_000017.10:g.1449235_1449236del, NC_000017.10:g.1449236del, NC_000017.10:g.1449236dup, NC_000017.10:g.1449235_1449236dup, NC_000017.10:g.1449234_1449236dup, NC_000017.10:g.1449233_1449236dup, NC_000017.10:g.1449232_1449236dup, NC_000017.10:g.1449231_1449236dup, NC_000017.10:g.1449230_1449236dup, NC_000017.10:g.1449229_1449236dup, NC_000017.10:g.1449228_1449236dup, NC_000017.10:g.1449226_1449236dup, NC_000017.10:g.1449236_1449237insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_013017.1:g.21886_21899del, NG_013017.1:g.21889_21899del, NG_013017.1:g.21890_21899del, NG_013017.1:g.21891_21899del, NG_013017.1:g.21892_21899del, NG_013017.1:g.21893_21899del, NG_013017.1:g.21894_21899del, NG_013017.1:g.21895_21899del, NG_013017.1:g.21896_21899del, NG_013017.1:g.21897_21899del, NG_013017.1:g.21898_21899del, NG_013017.1:g.21899del, NG_013017.1:g.21899dup, NG_013017.1:g.21898_21899dup, NG_013017.1:g.21897_21899dup, NG_013017.1:g.21896_21899dup, NG_013017.1:g.21895_21899dup, NG_013017.1:g.21894_21899dup, NG_013017.1:g.21893_21899dup, NG_013017.1:g.21892_21899dup, NG_013017.1:g.21891_21899dup, NG_013017.1:g.21889_21899dup, NG_013017.1:g.21899_21900insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14913272828.

rs1491327282 has merged into rs1442959859 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,CCCC [Show Flanks]
Chromosome:: 17:1561151 (GRCh38)
17:1464445 (GRCh37)
Canonical SPDI:: NC_000017.11:1561149:CCC:C,NC_000017.11:1561149:CCC:CCCCC
Gene:: PITPNA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
-=0.007525/29 (ALSPAC)
-=0.009439/35 (TWINSUK)
HGVS:: NC_000017.11:g.1561151_1561152del, NC_000017.11:g.1561151_1561152dup, NC_000017.10:g.1464445_1464446del, NC_000017.10:g.1464445_1464446dup, NG_013017.1:g.6666_6667del, NG_013017.1:g.6666_6667dup

Select item 14913000399.

rs1491300039 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 17:1524344 (GRCh38)
17:1427639 (GRCh37)
Canonical SPDI:: NC_000017.11:1524344::C
Gene:: PITPNA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00008/6 (GnomAD)
HGVS:: NC_000017.11:g.1524344_1524345insC, NC_000017.10:g.1427638_1427639insC, NG_013017.1:g.43472_43473insG

Select item 149129516010.

rs1491295160 has merged into rs1227110875 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT [Show Flanks]
Chromosome:: 17:1536297 (GRCh38)
17:1439591 (GRCh37)
Canonical SPDI:: NC_000017.11:1536295:TTTTTTTTTT:T,NC_000017.11:1536295:TTTTTTTTTT:TTTTTT,NC_000017.11:1536295:TTTTTTTTTT:TTTTTTTT,NC_000017.11:1536295:TTTTTTTTTT:TTTTTTTTT,NC_000017.11:1536295:TTTTTTTTTT:TTTTTTTTTTT
Gene:: PITPNA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.1536297_1536305del, NC_000017.11:g.1536302_1536305del, NC_000017.11:g.1536304_1536305del, NC_000017.11:g.1536305del, NC_000017.11:g.1536305dup, NC_000017.10:g.1439591_1439599del, NC_000017.10:g.1439596_1439599del, NC_000017.10:g.1439598_1439599del, NC_000017.10:g.1439599del, NC_000017.10:g.1439599dup, NG_013017.1:g.31513_31521del, NG_013017.1:g.31518_31521del, NG_013017.1:g.31520_31521del, NG_013017.1:g.31521del, NG_013017.1:g.31521dup

Select item 149125524511.

rs1491255245 has merged into rs67568232 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 17:1529153 (GRCh38)
17:1432447 (GRCh37)
Canonical SPDI:: NC_000017.11:1529137:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:1529137:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:1529137:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:1529137:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:1529137:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:1529137:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:1529137:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:1529137:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PITPNA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0./0 (ALFA)
AA=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.1529153_1529156del, NC_000017.11:g.1529154_1529156del, NC_000017.11:g.1529155_1529156del, NC_000017.11:g.1529156del, NC_000017.11:g.1529156dup, NC_000017.11:g.1529155_1529156dup, NC_000017.11:g.1529153_1529156dup, NC_000017.11:g.1529150_1529156dup, NC_000017.10:g.1432447_1432450del, NC_000017.10:g.1432448_1432450del, NC_000017.10:g.1432449_1432450del, NC_000017.10:g.1432450del, NC_000017.10:g.1432450dup, NC_000017.10:g.1432449_1432450dup, NC_000017.10:g.1432447_1432450dup, NC_000017.10:g.1432444_1432450dup, NG_013017.1:g.38676_38679del, NG_013017.1:g.38677_38679del, NG_013017.1:g.38678_38679del, NG_013017.1:g.38679del, NG_013017.1:g.38679dup, NG_013017.1:g.38678_38679dup, NG_013017.1:g.38676_38679dup, NG_013017.1:g.38673_38679dup

Select item 149121466912.

rs1491214669 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->GATA
Chromosome:: no mapping
Canonical SPDI:

Select item 149119828613.

rs1491198286 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 17:1552607 (GRCh38)
17:1455901 (GRCh37)
Canonical SPDI:: NC_000017.11:1552605:TCT:T
Gene:: PITPNA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0136/61 (ALFA)
HGVS:: NC_000017.11:g.1552607_1552608del, NC_000017.10:g.1455901_1455902del, NG_013017.1:g.15210_15211del

Select item 149109794614.

rs1491097946 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 17:1540593 (GRCh38)
17:1443887 (GRCh37)
Canonical SPDI:: NC_000017.11:1540589:TCTCT:TCT
Gene:: PITPNA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCT=0.000084/1 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.1540591CT[1], NC_000017.10:g.1443885CT[1], NG_013017.1:g.27224GA[1]

Select item 149105320015.

rs1491053200 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->CT
Chromosome:: no mapping
Canonical SPDI:

Select item 149101820616.

rs1491018206 has merged into rs11401118 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,T,TT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:1523513 (GRCh38)
17:1426807 (GRCh37)
Canonical SPDI:: NC_000017.11:1523505:TTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000017.11:1523505:TTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000017.11:1523505:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000017.11:1523505:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:1523505:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:1523505:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:1523505:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:1523505:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:1523505:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:1523505:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:1523505:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:1523505:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:1523505:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:1523505:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:1523505:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:1523505:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:1523505:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PITPNA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000017.11:g.1523513_1523524del, NC_000017.11:g.1523514_1523524del, NC_000017.11:g.1523515_1523524del, NC_000017.11:g.1523518_1523524del, NC_000017.11:g.1523520_1523524del, NC_000017.11:g.1523521_1523524del, NC_000017.11:g.1523522_1523524del, NC_000017.11:g.1523523_1523524del, NC_000017.11:g.1523524del, NC_000017.11:g.1523524dup, NC_000017.11:g.1523523_1523524dup, NC_000017.11:g.1523522_1523524dup, NC_000017.11:g.1523521_1523524dup, NC_000017.11:g.1523520_1523524dup, NC_000017.11:g.1523519_1523524dup, NC_000017.11:g.1523518_1523524dup, NC_000017.11:g.1523524_1523525insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.1426807_1426818del, NC_000017.10:g.1426808_1426818del, NC_000017.10:g.1426809_1426818del, NC_000017.10:g.1426812_1426818del, NC_000017.10:g.1426814_1426818del, NC_000017.10:g.1426815_1426818del, NC_000017.10:g.1426816_1426818del, NC_000017.10:g.1426817_1426818del, NC_000017.10:g.1426818del, NC_000017.10:g.1426818dup, NC_000017.10:g.1426817_1426818dup, NC_000017.10:g.1426816_1426818dup, NC_000017.10:g.1426815_1426818dup, NC_000017.10:g.1426814_1426818dup, NC_000017.10:g.1426813_1426818dup, NC_000017.10:g.1426812_1426818dup, NC_000017.10:g.1426818_1426819insTTTTTTTTTTTTTTTTTTTTTTTT, NG_013017.1:g.44300_44311del, NG_013017.1:g.44301_44311del, NG_013017.1:g.44302_44311del, NG_013017.1:g.44305_44311del, NG_013017.1:g.44307_44311del, NG_013017.1:g.44308_44311del, NG_013017.1:g.44309_44311del, NG_013017.1:g.44310_44311del, NG_013017.1:g.44311del, NG_013017.1:g.44311dup, NG_013017.1:g.44310_44311dup, NG_013017.1:g.44309_44311dup, NG_013017.1:g.44308_44311dup, NG_013017.1:g.44307_44311dup, NG_013017.1:g.44306_44311dup, NG_013017.1:g.44305_44311dup, NG_013017.1:g.44311_44312insAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149101767517.

rs1491017675 has merged into rs200916480 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTTT [Show Flanks]
Chromosome:: 17:1536459 (GRCh38)
17:1439753 (GRCh37)
Canonical SPDI:: NC_000017.11:1536454:TTTTTTTT:TTTT,NC_000017.11:1536454:TTTTTTTT:TTTTT,NC_000017.11:1536454:TTTTTTTT:TTTTTT,NC_000017.11:1536454:TTTTTTTT:TTTTTTT,NC_000017.11:1536454:TTTTTTTT:TTTTTTTTT,NC_000017.11:1536454:TTTTTTTT:TTTTTTTTTTT
Gene:: PITPNA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTT=0./0 (ALFA)
T=0.05/2 (GENOME_DK)
T=0.06809/341 (1000Genomes)
T=0.09167/55 (NorthernSweden)
T=0.10638/410 (ALSPAC)
T=0.11323/113 (GoNL)
T=0.11893/441 (TWINSUK)
HGVS:: NC_000017.11:g.1536459_1536462del, NC_000017.11:g.1536460_1536462del, NC_000017.11:g.1536461_1536462del, NC_000017.11:g.1536462del, NC_000017.11:g.1536462dup, NC_000017.11:g.1536460_1536462dup, NC_000017.10:g.1439753_1439756del, NC_000017.10:g.1439754_1439756del, NC_000017.10:g.1439755_1439756del, NC_000017.10:g.1439756del, NC_000017.10:g.1439756dup, NC_000017.10:g.1439754_1439756dup, NG_013017.1:g.31359_31362del, NG_013017.1:g.31360_31362del, NG_013017.1:g.31361_31362del, NG_013017.1:g.31362del, NG_013017.1:g.31362dup, NG_013017.1:g.31360_31362dup

Select item 149101488818.

rs1491014888 has merged into rs34829060 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:1563710 (GRCh38)
17:1467004 (GRCh37)
Canonical SPDI:: NC_000017.11:1563700:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:1563700:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:1563700:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:1563700:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:1563700:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:1563700:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:1563700:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:1563700:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:1563700:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:1563700:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:1563700:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:1563700:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:1563700:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:1563700:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:1563700:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:1563700:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:1563700:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:1563700:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:1563700:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:1563700:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:1563700:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:1563700:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PITPNA (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.2827/1416 (1000Genomes)
HGVS:: NC_000017.11:g.1563710_1563720del, NC_000017.11:g.1563711_1563720del, NC_000017.11:g.1563712_1563720del, NC_000017.11:g.1563713_1563720del, NC_000017.11:g.1563714_1563720del, NC_000017.11:g.1563715_1563720del, NC_000017.11:g.1563716_1563720del, NC_000017.11:g.1563717_1563720del, NC_000017.11:g.1563718_1563720del, NC_000017.11:g.1563719_1563720del, NC_000017.11:g.1563720del, NC_000017.11:g.1563720dup, NC_000017.11:g.1563719_1563720dup, NC_000017.11:g.1563718_1563720dup, NC_000017.11:g.1563717_1563720dup, NC_000017.11:g.1563716_1563720dup, NC_000017.11:g.1563715_1563720dup, NC_000017.11:g.1563714_1563720dup, NC_000017.11:g.1563713_1563720dup, NC_000017.11:g.1563711_1563720dup, NC_000017.11:g.1563710_1563720dup, NC_000017.11:g.1563709_1563720dup, NC_000017.10:g.1467004_1467014del, NC_000017.10:g.1467005_1467014del, NC_000017.10:g.1467006_1467014del, NC_000017.10:g.1467007_1467014del, NC_000017.10:g.1467008_1467014del, NC_000017.10:g.1467009_1467014del, NC_000017.10:g.1467010_1467014del, NC_000017.10:g.1467011_1467014del, NC_000017.10:g.1467012_1467014del, NC_000017.10:g.1467013_1467014del, NC_000017.10:g.1467014del, NC_000017.10:g.1467014dup, NC_000017.10:g.1467013_1467014dup, NC_000017.10:g.1467012_1467014dup, NC_000017.10:g.1467011_1467014dup, NC_000017.10:g.1467010_1467014dup, NC_000017.10:g.1467009_1467014dup, NC_000017.10:g.1467008_1467014dup, NC_000017.10:g.1467007_1467014dup, NC_000017.10:g.1467005_1467014dup, NC_000017.10:g.1467004_1467014dup, NC_000017.10:g.1467003_1467014dup, NG_013017.1:g.4106_4116del, NG_013017.1:g.4107_4116del, NG_013017.1:g.4108_4116del, NG_013017.1:g.4109_4116del, NG_013017.1:g.4110_4116del, NG_013017.1:g.4111_4116del, NG_013017.1:g.4112_4116del, NG_013017.1:g.4113_4116del, NG_013017.1:g.4114_4116del, NG_013017.1:g.4115_4116del, NG_013017.1:g.4116del, NG_013017.1:g.4116dup, NG_013017.1:g.4115_4116dup, NG_013017.1:g.4114_4116dup, NG_013017.1:g.4113_4116dup, NG_013017.1:g.4112_4116dup, NG_013017.1:g.4111_4116dup, NG_013017.1:g.4110_4116dup, NG_013017.1:g.4109_4116dup, NG_013017.1:g.4107_4116dup, NG_013017.1:g.4106_4116dup, NG_013017.1:g.4105_4116dup

Select item 149100063219.

rs1491000632 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:1537237 (GRCh38)
17:1440531 (GRCh37)
Canonical SPDI:: NC_000017.11:1537236:G:C
Gene:: PITPNA (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000017.11:g.1537237G>C, NC_000017.10:g.1440531G>C, NG_013017.1:g.30580C>G

Select item 149085770620.

rs1490857706 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:1539535 (GRCh38)
17:1442829 (GRCh37)
Canonical SPDI:: NC_000017.11:1539534:C:G
Gene:: PITPNA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.1539535C>G, NC_000017.10:g.1442829C>G, NG_013017.1:g.28282G>C

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