SNP Links for Nucleotide (Select 563580293) - SNP

Select item 14895062551.

rs1489506255 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:55014858 (GRCh38)
19:55526226 (GRCh37)
Canonical SPDI:: NC_000019.10:55014857:C:G
Gene:: GP6 (Varview), GP6-AS1 (Varview)
Functional Consequence:: intron_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.55014858C>G, NC_000019.9:g.55526226C>G, NG_031963.2:g.28407G>C, NM_016363.5:c.*63G>C, NM_016363.4:c.*63G>C, NM_001083899.2:c.1087G>C, NM_001083899.1:c.1087G>C, NM_001256017.2:c.*63G>C, NM_001256017.1:c.*63G>C, NW_003571061.2:g.727019C>G, NW_003571061.1:g.727018C>G, NW_003571059.2:g.933223C>G, NW_003571058.2:g.996930C>G, NW_003571057.2:g.1022381C>G, NW_003571056.2:g.994844C>G, NW_003571055.2:g.660060C>G, NW_003571055.1:g.660059C>G, NW_003571060.1:g.917640C>G, NW_003571054.1:g.918256C>G, NT_187693.1:g.997340C>G, NW_004166865.1:g.989226C>G, NP_001077368.2:p.Asp363His

Select item 14851288532.

rs1485128853 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:55014292 (GRCh38)
19:55525660 (GRCh37)
Canonical SPDI:: NC_000019.10:55014291:T:C
Gene:: GP6 (Varview), GP6-AS1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.55014292T>C, NC_000019.9:g.55525660T>C, NG_031963.2:g.28973A>G, NM_016363.5:c.*629A>G, NM_016363.4:c.*629A>G, NM_001083899.2:c.1653A>G, NM_001083899.1:c.1653A>G, NM_001256017.2:c.*629A>G, NM_001256017.1:c.*629A>G, NW_003571061.2:g.726453T>C, NW_003571061.1:g.726452T>C, NW_003571059.2:g.932657T>C, NW_003571058.2:g.996364T>C, NW_003571057.2:g.1021815T>C, NW_003571056.2:g.994278T>C, NW_003571055.2:g.659494T>C, NW_003571055.1:g.659493T>C, NW_003571060.1:g.917074T>C, NW_003571054.1:g.917690T>C, NT_187693.1:g.996774T>C, NW_004166865.1:g.988660T>C

Select item 14846363873.

rs1484636387 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:55015152 (GRCh38)
19:55526520 (GRCh37)
Canonical SPDI:: NC_000019.10:55015151:C:T
Gene:: GP6 (Varview), GP6-AS1 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.55015152C>T, NC_000019.9:g.55526520C>T, NG_031963.2:g.28113G>A, NM_016363.5:c.789G>A, NM_016363.4:c.789G>A, NM_001083899.2:c.793G>A, NM_001083899.1:c.793G>A, NM_001256017.2:c.735G>A, NM_001256017.1:c.735G>A, NW_003571061.2:g.727313C>T, NW_003571061.1:g.727312C>T, NW_003571059.2:g.933517C>T, NW_003571058.2:g.997224C>T, NW_003571057.2:g.1022675C>T, NW_003571056.2:g.995138C>T, NW_003571055.2:g.660354C>T, NW_003571055.1:g.660353C>T, NW_003571060.1:g.917934C>T, NW_003571054.1:g.918550C>T, NT_187693.1:g.997634C>T, NW_004166865.1:g.989520C>T, NP_001077368.2:p.Val265Ile

Select item 14829898974.

rs1482989897 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:55032296 (GRCh38)
19:55543664 (GRCh37)
Canonical SPDI:: NC_000019.10:55032295:C:T
Gene:: GP6 (Varview), GP6-AS1 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.55032296C>T, NC_000019.9:g.55543664C>T, NG_031963.2:g.10969G>A, NM_016363.5:c.168G>A, NM_016363.4:c.168G>A, NM_001083899.2:c.168G>A, NM_001083899.1:c.168G>A, NM_001256017.2:c.168G>A, NM_001256017.1:c.168G>A, NW_003571061.2:g.744457C>T, NW_003571061.1:g.744456C>T, NW_003571059.2:g.950661C>T, NW_003571058.2:g.1014368C>T, NW_003571057.2:g.1039819C>T, NW_003571056.2:g.1012282C>T, NW_003571055.2:g.677498C>T, NW_003571055.1:g.677497C>T, NW_003571060.1:g.935078C>T, NW_003571054.1:g.935694C>T, NT_187693.1:g.1014778C>T, NW_004166865.1:g.1006664C>T

Select item 14804157645.

rs1480415764 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:55015059 (GRCh38)
19:55526427 (GRCh37)
Canonical SPDI:: NC_000019.10:55015058:C:A
Gene:: GP6 (Varview), GP6-AS1 (Varview)
Functional Consequence:: stop_gained,synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.55015059C>A, NC_000019.9:g.55526427C>A, NG_031963.2:g.28206G>T, NM_016363.5:c.882G>T, NM_016363.4:c.882G>T, NM_001083899.2:c.886G>T, NM_001083899.1:c.886G>T, NM_001256017.2:c.828G>T, NM_001256017.1:c.828G>T, NW_003571061.2:g.727220C>A, NW_003571061.1:g.727219C>A, NW_003571059.2:g.933424C>A, NW_003571058.2:g.997131C>A, NW_003571057.2:g.1022582C>A, NW_003571056.2:g.995045C>A, NW_003571055.2:g.660261C>A, NW_003571055.1:g.660260C>A, NW_003571060.1:g.917841C>A, NW_003571054.1:g.918457C>A, NT_187693.1:g.997541C>A, NW_004166865.1:g.989427C>A, NP_001077368.2:p.Glu296Ter

Select item 14790954736.

rs1479095473 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:55014578 (GRCh38)
19:55525946 (GRCh37)
Canonical SPDI:: NC_000019.10:55014577:C:G
Gene:: GP6 (Varview), GP6-AS1 (Varview)
Functional Consequence:: intron_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.55014578C>G, NC_000019.9:g.55525946C>G, NG_031963.2:g.28687G>C, NM_016363.5:c.*343G>C, NM_016363.4:c.*343G>C, NM_001083899.2:c.1367G>C, NM_001083899.1:c.1367G>C, NM_001256017.2:c.*343G>C, NM_001256017.1:c.*343G>C, NW_003571061.2:g.726739C>G, NW_003571061.1:g.726738C>G, NW_003571059.2:g.932943C>G, NW_003571058.2:g.996650C>G, NW_003571057.2:g.1022101C>G, NW_003571056.2:g.994564C>G, NW_003571055.2:g.659780C>G, NW_003571055.1:g.659779C>G, NW_003571060.1:g.917360C>G, NW_003571054.1:g.917976C>G, NT_187693.1:g.997060C>G, NW_004166865.1:g.988946C>G, NP_001077368.2:p.Arg456Thr

Select item 14786300457.

rs1478630045 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:55014659 (GRCh38)
19:55526027 (GRCh37)
Canonical SPDI:: NC_000019.10:55014658:C:A,NC_000019.10:55014658:C:T
Gene:: GP6 (Varview), GP6-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant,stop_gained,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.55014659C>A, NC_000019.10:g.55014659C>T, NC_000019.9:g.55526027C>A, NC_000019.9:g.55526027C>T, NG_031963.2:g.28606G>T, NG_031963.2:g.28606G>A, NM_016363.5:c.*262G>T, NM_016363.5:c.*262G>A, NM_016363.4:c.*262G>T, NM_016363.4:c.*262G>A, NM_001083899.2:c.1286G>T, NM_001083899.2:c.1286G>A, NM_001083899.1:c.1286G>T, NM_001083899.1:c.1286G>A, NM_001256017.2:c.*262G>T, NM_001256017.2:c.*262G>A, NM_001256017.1:c.*262G>T, NM_001256017.1:c.*262G>A, NW_003571061.2:g.726820C>A, NW_003571061.2:g.726820C>T, NW_003571061.1:g.726819C>A, NW_003571061.1:g.726819C>T, NW_003571059.2:g.933024C>A, NW_003571059.2:g.933024C>T, NW_003571058.2:g.996731C>A, NW_003571058.2:g.996731C>T, NW_003571057.2:g.1022182C>A, NW_003571057.2:g.1022182C>T, NW_003571056.2:g.994645C>A, NW_003571056.2:g.994645C>T, NW_003571055.2:g.659861C>A, NW_003571055.2:g.659861C>T, NW_003571055.1:g.659860C>A, NW_003571055.1:g.659860C>T, NW_003571060.1:g.917441C>A, NW_003571060.1:g.917441C>T, NW_003571054.1:g.918057C>A, NW_003571054.1:g.918057C>T, NT_187693.1:g.997141C>A, NT_187693.1:g.997141C>T, NW_004166865.1:g.989027C>A, NW_004166865.1:g.989027C>T, NP_001077368.2:p.Trp429Leu, NP_001077368.2:p.Trp429Ter

Select item 14781660398.

rs1478166039 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 19:55027596 (GRCh38)
19:55538964 (GRCh37)
Canonical SPDI:: NC_000019.10:55027595:GGGGG:GGGG
Gene:: GP6 (Varview), GP6-AS1 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: GGGG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.55027600del, NC_000019.9:g.55538968del, NG_031963.2:g.15669del, NM_016363.5:c.592del, NM_016363.4:c.592del, NM_001083899.2:c.592del, NM_001083899.1:c.592del, NM_001256017.2:c.592del, NM_001256017.1:c.592del, NW_003571061.2:g.739761del, NW_003571061.1:g.739760del, NW_003571059.2:g.945965del, NW_003571058.2:g.1009672del, NW_003571057.2:g.1035123del, NW_003571056.2:g.1007586del, NW_003571055.2:g.672802del, NW_003571055.1:g.672801del, NW_003571060.1:g.930382del, NW_003571054.1:g.930998del, NT_187693.1:g.1010082del, NW_004166865.1:g.1001968del, NP_057447.5:p.Leu198fs, NP_001077368.2:p.Leu198fs, NP_001242946.2:p.Leu198fs

Select item 14779782179.

rs1477978217 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:55014081 (GRCh38)
19:55525449 (GRCh37)
Canonical SPDI:: NC_000019.10:55014080:A:G
Gene:: GP6 (Varview), GP6-AS1 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000079/21 (TOPMED)
G=0.000101/13 (GnomAD_exomes)
G=0.000177/3 (TOMMO)
G=0.000342/1 (KOREAN)
HGVS:: NC_000019.10:g.55014081A>G, NC_000019.9:g.55525449A>G, NG_031963.2:g.29184T>C, NM_016363.5:c.*840T>C, NM_016363.4:c.*840T>C, NM_001083899.2:c.*1T>C, NM_001083899.1:c.*1T>C, NM_001256017.2:c.*840T>C, NM_001256017.1:c.*840T>C, NW_003571061.2:g.726242A>G, NW_003571061.1:g.726241A>G, NW_003571059.2:g.932446A>G, NW_003571058.2:g.996153A>G, NW_003571057.2:g.1021604A>G, NW_003571056.2:g.994067A>G, NW_003571055.2:g.659283A>G, NW_003571055.1:g.659282A>G, NW_003571060.1:g.916863A>G, NW_003571054.1:g.917479A>G, NT_187693.1:g.996563A>G, NW_004166865.1:g.988449A>G

Select item 147664755110.

rs1476647551 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:55015117 (GRCh38)
19:55526485 (GRCh37)
Canonical SPDI:: NC_000019.10:55015116:A:T
Gene:: GP6 (Varview), GP6-AS1 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.55015117A>T, NC_000019.9:g.55526485A>T, NG_031963.2:g.28148T>A, NM_016363.5:c.824T>A, NM_016363.4:c.824T>A, NM_001083899.2:c.828T>A, NM_001083899.1:c.828T>A, NM_001256017.2:c.770T>A, NM_001256017.1:c.770T>A, NW_003571061.2:g.727278A>T, NW_003571061.1:g.727277A>T, NW_003571059.2:g.933482A>T, NW_003571058.2:g.997189A>T, NW_003571057.2:g.1022640A>T, NW_003571056.2:g.995103A>T, NW_003571055.2:g.660319A>T, NW_003571055.1:g.660318A>T, NW_003571060.1:g.917899A>T, NW_003571054.1:g.918515A>T, NT_187693.1:g.997599A>T, NW_004166865.1:g.989485A>T, NP_057447.5:p.Leu275His, NP_001242946.2:p.Leu257His

Select item 147560500711.

rs1475605007 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:55027815 (GRCh38)
19:55539183 (GRCh37)
Canonical SPDI:: NC_000019.10:55027814:A:T
Gene:: GP6 (Varview), GP6-AS1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.55027815A>T, NC_000019.9:g.55539183A>T, NG_031963.2:g.15450T>A, NM_016363.5:c.373T>A, NM_016363.4:c.373T>A, NM_001083899.2:c.373T>A, NM_001083899.1:c.373T>A, NM_001256017.2:c.373T>A, NM_001256017.1:c.373T>A, NW_003571061.2:g.739976A>T, NW_003571061.1:g.739975A>T, NW_003571059.2:g.946180A>T, NW_003571058.2:g.1009887A>T, NW_003571057.2:g.1035338A>T, NW_003571056.2:g.1007801A>T, NW_003571055.2:g.673017A>T, NW_003571055.1:g.673016A>T, NW_003571060.1:g.930597A>T, NW_003571054.1:g.931213A>T, NT_187693.1:g.1010297A>T, NW_004166865.1:g.1002183A>T, NP_057447.5:p.Ser125Thr, NP_001077368.2:p.Ser125Thr, NP_001242946.2:p.Ser125Thr

Select item 147484178512.

rs1474841785 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:55014860 (GRCh38)
19:55526228 (GRCh37)
Canonical SPDI:: NC_000019.10:55014859:T:C
Gene:: GP6 (Varview), GP6-AS1 (Varview)
Functional Consequence:: intron_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.55014860T>C, NC_000019.9:g.55526228T>C, NG_031963.2:g.28405A>G, NM_016363.5:c.*61A>G, NM_016363.4:c.*61A>G, NM_001083899.2:c.1085A>G, NM_001083899.1:c.1085A>G, NM_001256017.2:c.*61A>G, NM_001256017.1:c.*61A>G, NW_003571061.2:g.727021T>C, NW_003571061.1:g.727020T>C, NW_003571059.2:g.933225T>C, NW_003571058.2:g.996932T>C, NW_003571057.2:g.1022383T>C, NW_003571056.2:g.994846T>C, NW_003571055.2:g.660062T>C, NW_003571055.1:g.660061T>C, NW_003571060.1:g.917642T>C, NW_003571054.1:g.918258T>C, NT_187693.1:g.997342T>C, NW_004166865.1:g.989228T>C, NP_001077368.2:p.Lys362Arg

Select item 147448358013.

rs1474483580 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:55027609 (GRCh38)
19:55538977 (GRCh37)
Canonical SPDI:: NC_000019.10:55027608:G:T
Gene:: GP6 (Varview), GP6-AS1 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.55027609G>T, NC_000019.9:g.55538977G>T, NG_031963.2:g.15656C>A, NM_016363.5:c.579C>A, NM_016363.4:c.579C>A, NM_001083899.2:c.579C>A, NM_001083899.1:c.579C>A, NM_001256017.2:c.579C>A, NM_001256017.1:c.579C>A, NW_003571061.2:g.739770G>T, NW_003571061.1:g.739769G>T, NW_003571059.2:g.945974G>T, NW_003571058.2:g.1009681G>T, NW_003571057.2:g.1035132G>T, NW_003571056.2:g.1007595G>T, NW_003571055.2:g.672811G>T, NW_003571055.1:g.672810G>T, NW_003571060.1:g.930391G>T, NW_003571054.1:g.931007G>T, NT_187693.1:g.1010091G>T, NW_004166865.1:g.1001977G>T

Select item 147165423514.

rs1471654235 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 19:55014414 (GRCh38)
19:55525782 (GRCh37)
Canonical SPDI:: NC_000019.10:55014413:G:
Gene:: GP6 (Varview), GP6-AS1 (Varview)
Functional Consequence:: intron_variant,frameshift_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.55014414del, NC_000019.9:g.55525782del, NG_031963.2:g.28851del, NM_016363.5:c.*507del, NM_016363.4:c.*507del, NM_001083899.2:c.1531del, NM_001083899.1:c.1531del, NM_001256017.2:c.*507del, NM_001256017.1:c.*507del, NW_003571061.2:g.726575del, NW_003571061.1:g.726574del, NW_003571059.2:g.932779del, NW_003571058.2:g.996486del, NW_003571057.2:g.1021937del, NW_003571056.2:g.994400del, NW_003571055.2:g.659616del, NW_003571055.1:g.659615del, NW_003571060.1:g.917196del, NW_003571054.1:g.917812del, NT_187693.1:g.996896del, NW_004166865.1:g.988782del, NP_001077368.2:p.Ala512fs

Select item 147135087715.

rs1471350877 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:55032232 (GRCh38)
19:55543600 (GRCh37)
Canonical SPDI:: NC_000019.10:55032231:T:A
Gene:: GP6 (Varview), GP6-AS1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.55032232T>A, NC_000019.9:g.55543600T>A, NG_031963.2:g.11033A>T, NM_016363.5:c.232A>T, NM_016363.4:c.232A>T, NM_001083899.2:c.232A>T, NM_001083899.1:c.232A>T, NM_001256017.2:c.232A>T, NM_001256017.1:c.232A>T, NW_003571061.2:g.744393T>A, NW_003571061.1:g.744392T>A, NW_003571059.2:g.950597T>A, NW_003571058.2:g.1014304T>A, NW_003571057.2:g.1039755T>A, NW_003571056.2:g.1012218T>A, NW_003571055.2:g.677434T>A, NW_003571055.1:g.677433T>A, NW_003571060.1:g.935014T>A, NW_003571054.1:g.935630T>A, NT_187693.1:g.1014714T>A, NW_004166865.1:g.1006600T>A, NP_057447.5:p.Met78Leu, NP_001077368.2:p.Met78Leu, NP_001242946.2:p.Met78Leu

Select item 146974895716.

rs1469748957 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:55015002 (GRCh38)
19:55526370 (GRCh37)
Canonical SPDI:: NC_000019.10:55015001:C:T
Gene:: GP6 (Varview), GP6-AS1 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.55015002C>T, NC_000019.9:g.55526370C>T, NG_031963.2:g.28263G>A, NM_016363.5:c.939G>A, NM_016363.4:c.939G>A, NM_001083899.2:c.943G>A, NM_001083899.1:c.943G>A, NM_001256017.2:c.885G>A, NM_001256017.1:c.885G>A, NW_003571061.2:g.727163C>T, NW_003571061.1:g.727162C>T, NW_003571059.2:g.933367C>T, NW_003571058.2:g.997074C>T, NW_003571057.2:g.1022525C>T, NW_003571056.2:g.994988C>T, NW_003571055.2:g.660204C>T, NW_003571055.1:g.660203C>T, NW_003571060.1:g.917784C>T, NW_003571054.1:g.918400C>T, NT_187693.1:g.997484C>T, NW_004166865.1:g.989370C>T, NP_001077368.2:p.Ala315Thr

Select item 146783545617.

rs1467835456 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:55015717 (GRCh38)
19:55527085 (GRCh37)
Canonical SPDI:: NC_000019.10:55015716:G:A
Gene:: GP6 (Varview), GP6-AS1 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.55015717G>A, NC_000019.9:g.55527085G>A, NG_031963.2:g.27548C>T, NM_016363.5:c.741C>T, NM_016363.4:c.741C>T, NM_001083899.2:c.741C>T, NM_001083899.1:c.741C>T, NM_001256017.2:c.687C>T, NM_001256017.1:c.687C>T, NW_003571061.2:g.727878G>A, NW_003571061.1:g.727877G>A, NW_003571059.2:g.934082G>A, NW_003571058.2:g.997789G>A, NW_003571057.2:g.1023240G>A, NW_003571056.2:g.995703G>A, NW_003571055.2:g.660919G>A, NW_003571055.1:g.660918G>A, NW_003571060.1:g.918499G>A, NW_003571054.1:g.919115G>A, NT_187693.1:g.998199G>A, NW_004166865.1:g.990085G>A

Select item 146760434918.

rs1467604349 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:55014518 (GRCh38)
19:55525886 (GRCh37)
Canonical SPDI:: NC_000019.10:55014517:G:A
Gene:: GP6 (Varview), GP6-AS1 (Varview)
Functional Consequence:: intron_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.00003/8 (TOPMED)
A=0.000057/8 (GnomAD)
HGVS:: NC_000019.10:g.55014518G>A, NC_000019.9:g.55525886G>A, NG_031963.2:g.28747C>T, NM_016363.5:c.*403C>T, NM_016363.4:c.*403C>T, NM_001083899.2:c.1427C>T, NM_001083899.1:c.1427C>T, NM_001256017.2:c.*403C>T, NM_001256017.1:c.*403C>T, NW_003571061.2:g.726679G>A, NW_003571061.1:g.726678G>A, NW_003571059.2:g.932883G>A, NW_003571058.2:g.996590G>A, NW_003571057.2:g.1022041G>A, NW_003571056.2:g.994504G>A, NW_003571055.2:g.659720G>A, NW_003571055.1:g.659719G>A, NW_003571060.1:g.917300G>A, NW_003571054.1:g.917916G>A, NT_187693.1:g.997000G>A, NW_004166865.1:g.988886G>A, NP_001077368.2:p.Pro476Leu

Select item 146690017319.

rs1466900173 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:55032249 (GRCh38)
19:55543617 (GRCh37)
Canonical SPDI:: NC_000019.10:55032248:A:T
Gene:: GP6 (Varview), GP6-AS1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.55032249A>T, NC_000019.9:g.55543617A>T, NG_031963.2:g.11016T>A, NM_016363.5:c.215T>A, NM_016363.4:c.215T>A, NM_001083899.2:c.215T>A, NM_001083899.1:c.215T>A, NM_001256017.2:c.215T>A, NM_001256017.1:c.215T>A, NW_003571061.2:g.744410A>T, NW_003571061.1:g.744409A>T, NW_003571059.2:g.950614A>T, NW_003571058.2:g.1014321A>T, NW_003571057.2:g.1039772A>T, NW_003571056.2:g.1012235A>T, NW_003571055.2:g.677451A>T, NW_003571055.1:g.677450A>T, NW_003571060.1:g.935031A>T, NW_003571054.1:g.935647A>T, NT_187693.1:g.1014731A>T, NW_004166865.1:g.1006617A>T, NP_057447.5:p.Val72Asp, NP_001077368.2:p.Val72Asp, NP_001242946.2:p.Val72Asp

Select item 146520107520.

rs1465201075 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:55014640 (GRCh38)
19:55526008 (GRCh37)
Canonical SPDI:: NC_000019.10:55014639:G:A,NC_000019.10:55014639:G:C
Gene:: GP6 (Varview), GP6-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.55014640G>A, NC_000019.10:g.55014640G>C, NC_000019.9:g.55526008G>A, NC_000019.9:g.55526008G>C, NG_031963.2:g.28625C>T, NG_031963.2:g.28625C>G, NM_016363.5:c.*281C>T, NM_016363.5:c.*281C>G, NM_016363.4:c.*281C>T, NM_016363.4:c.*281C>G, NM_001083899.2:c.1305C>T, NM_001083899.2:c.1305C>G, NM_001083899.1:c.1305C>T, NM_001083899.1:c.1305C>G, NM_001256017.2:c.*281C>T, NM_001256017.2:c.*281C>G, NM_001256017.1:c.*281C>T, NM_001256017.1:c.*281C>G, NW_003571061.2:g.726801G>A, NW_003571061.2:g.726801G>C, NW_003571061.1:g.726800G>A, NW_003571061.1:g.726800G>C, NW_003571059.2:g.933005G>A, NW_003571059.2:g.933005G>C, NW_003571058.2:g.996712G>A, NW_003571058.2:g.996712G>C, NW_003571057.2:g.1022163G>A, NW_003571057.2:g.1022163G>C, NW_003571056.2:g.994626G>A, NW_003571056.2:g.994626G>C, NW_003571055.2:g.659842G>A, NW_003571055.2:g.659842G>C, NW_003571055.1:g.659841G>A, NW_003571055.1:g.659841G>C, NW_003571060.1:g.917422G>A, NW_003571060.1:g.917422G>C, NW_003571054.1:g.918038G>A, NW_003571054.1:g.918038G>C, NT_187693.1:g.997122G>A, NT_187693.1:g.997122G>C, NW_004166865.1:g.989008G>A, NW_004166865.1:g.989008G>C

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