SNP Links for Nucleotide (Select 296080692) - SNP

Select item 14911187231.

rs1491118723 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 19:34401027 (GRCh38)
19:34891932 (GRCh37)
Canonical SPDI:: NC_000019.10:34401026:AT:
Gene:: GPI (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0.000927/11 (ALFA)
-=0.001619/213 (GnomAD)
HGVS:: NC_000019.10:g.34401027_34401028del, NC_000019.9:g.34891932_34891933del, NG_012838.3:g.46436_46437del, NM_000175.5:c.*991_*992del, NM_000175.4:c.*991_*992del, NM_000175.3:c.*991_*992del, NM_001289790.3:c.*991_*992del, NM_001289790.2:c.*991_*992del, NM_001289790.1:c.*991_*992del, NM_001329911.2:c.*991_*992del, NM_001329911.1:c.*991_*992del, NM_001289789.1:c.*991_*992del, NM_001184722.1:c.*991_*992del, NM_001329909.1:c.*991_*992del, NM_001329910.1:c.*991_*992del, NW_025791809.1:g.66037_66038del, XM_011526754.4:c.*991_*992del, XM_011526754.3:c.-5609G>T, XM_011526754.3:c.-5610AG[1], XM_011526754.2:c.*991_*992del

Select item 14909771382.

rs1490977138 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:34399271 (GRCh38)
19:34890176 (GRCh37)
Canonical SPDI:: NC_000019.10:34399270:C:T
Gene:: GPI (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.34399271C>T, NC_000019.9:g.34890176C>T, NG_012838.3:g.44680C>T, NM_000175.5:c.1334C>T, NM_000175.4:c.1334C>T, NM_000175.3:c.1334C>T, NM_001289790.3:c.1250C>T, NM_001289790.2:c.1250C>T, NM_001289790.1:c.1250C>T, NM_001329911.2:c.1307C>T, NM_001329911.1:c.1307C>T, NM_001289789.1:c.1451C>T, NM_001184722.1:c.1367C>T, NM_001329909.1:c.1334C>T, NM_001329910.1:c.1334C>T, NW_025791809.1:g.64281C>T, XM_011526754.4:c.1451C>T, XM_011526754.3:c.1451C>T, XM_011526754.2:c.1451C>T, XM_011526754.1:c.1451C>T, NP_000166.2:p.Ala445Val, NP_001276719.1:p.Ala417Val, NP_001316840.1:p.Ala436Val, NP_001276718.1:p.Ala484Val, NP_001171651.1:p.Ala456Val, NP_001316838.1:p.Ala445Val, NP_001316839.1:p.Ala445Val, XP_011525056.1:p.Ala484Val

Select item 14897560913.

rs1489756091 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:34400636 (GRCh38)
19:34891541 (GRCh37)
Canonical SPDI:: NC_000019.10:34400635:T:G
Gene:: GPI (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.34400636T>G, NC_000019.9:g.34891541T>G, NG_012838.3:g.46045T>G, NM_000175.5:c.*600T>G, NM_000175.4:c.*600T>G, NM_000175.3:c.*600T>G, NM_001289790.3:c.*600T>G, NM_001289790.2:c.*600T>G, NM_001289790.1:c.*600T>G, NM_001329911.2:c.*600T>G, NM_001329911.1:c.*600T>G, NM_001289789.1:c.*600T>G, NM_001184722.1:c.*600T>G, NM_001329909.1:c.*600T>G, NM_001329910.1:c.*600T>G, NW_025791809.1:g.65646T>G, XM_011526754.4:c.*600T>G, XM_011526754.2:c.*600T>G

Select item 14888099664.

rs1488809966 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:34401643 (GRCh38)
19:34892548 (GRCh37)
Canonical SPDI:: NC_000019.10:34401642:C:T
Gene:: GPI (Varview)
Functional Consequence:: 3_prime_UTR_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.34401643C>T, NC_000019.9:g.34892548C>T, NG_012838.3:g.47052C>T, NM_000175.5:c.*1607C>T, NM_000175.4:c.*1607C>T, NM_000175.3:c.*1607C>T, NM_001289790.3:c.*1607C>T, NM_001289790.2:c.*1607C>T, NM_001289790.1:c.*1607C>T, NM_001329911.2:c.*1607C>T, NM_001329911.1:c.*1607C>T, NM_001289789.1:c.*1607C>T, NM_001184722.1:c.*1607C>T, NM_001329909.1:c.*1607C>T, NM_001329910.1:c.*1607C>T, NW_025791809.1:g.66653C>T, XM_011526754.4:c.*1607C>T, XM_011526754.2:c.*1607C>T

Select item 14884144285.

rs1488414428 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 19:34401975 (GRCh38)
19:34892880 (GRCh37)
Canonical SPDI:: NC_000019.10:34401974:AA:
Gene:: GPI (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency
MAF:: -=0.000086/12 (GnomAD)
HGVS:: NC_000019.10:g.34401975_34401976del, NC_000019.9:g.34892880_34892881del, NG_012838.3:g.47384_47385del, NM_000175.5:c.*1939_*1940del, NM_000175.4:c.*1939_*1940del, NM_000175.3:c.*1939_*1940del, NM_001289790.3:c.*1939_*1940del, NM_001289790.2:c.*1939_*1940del, NM_001289790.1:c.*1939_*1940del, NM_001329911.2:c.*1939_*1940del, NM_001329911.1:c.*1939_*1940del, NM_001289789.1:c.*1939_*1940del, NM_001184722.1:c.*1939_*1940del, NM_001329909.1:c.*1939_*1940del, NM_001329910.1:c.*1939_*1940del, NW_025791809.1:g.66985_66986del, XM_011526754.4:c.*1939_*1940del, XM_011526754.3:c.-3533_-3532del, XM_011526754.2:c.*1939_*1940del

Select item 14873280746.

rs1487328074 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:34378975 (GRCh38)
19:34869880 (GRCh37)
Canonical SPDI:: NC_000019.10:34378974:G:A
Gene:: GPI (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
A=0.000177/3 (TOMMO)
HGVS:: NC_000019.10:g.34378975G>A, NC_000019.9:g.34869880G>A, NG_012838.3:g.24384G>A, NM_000175.5:c.675G>A, NM_000175.4:c.675G>A, NM_000175.3:c.675G>A, NM_001289790.3:c.591G>A, NM_001289790.2:c.591G>A, NM_001289790.1:c.591G>A, NM_001329911.2:c.675G>A, NM_001329911.1:c.675G>A, NM_001289789.1:c.792G>A, NM_001184722.1:c.708G>A, NM_001329909.1:c.675G>A, NM_001329910.1:c.675G>A, NW_025791809.1:g.28187G>A, NT_187619.1:g.28187G>A, XM_011526754.4:c.792G>A, XM_011526754.3:c.792G>A, XM_011526754.2:c.792G>A, XM_011526754.1:c.792G>A

Select item 14858388467.

rs1485838846 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:34401851 (GRCh38)
19:34892756 (GRCh37)
Canonical SPDI:: NC_000019.10:34401850:C:T
Gene:: GPI (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.34401851C>T, NC_000019.9:g.34892756C>T, NG_012838.3:g.47260C>T, NM_000175.5:c.*1815C>T, NM_000175.4:c.*1815C>T, NM_000175.3:c.*1815C>T, NM_001289790.3:c.*1815C>T, NM_001289790.2:c.*1815C>T, NM_001289790.1:c.*1815C>T, NM_001329911.2:c.*1815C>T, NM_001329911.1:c.*1815C>T, NM_001289789.1:c.*1815C>T, NM_001184722.1:c.*1815C>T, NM_001329909.1:c.*1815C>T, NM_001329910.1:c.*1815C>T, NW_025791809.1:g.66861C>T, XM_011526754.4:c.*1815C>T, XM_011526754.3:c.-3409G>A, XM_011526754.2:c.*1815C>T

Select item 14847896178.

rs1484789617 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:34401221 (GRCh38)
19:34892126 (GRCh37)
Canonical SPDI:: NC_000019.10:34401220:G:A,NC_000019.10:34401220:G:C
Gene:: GPI (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.34401221G>A, NC_000019.10:g.34401221G>C, NC_000019.9:g.34892126G>A, NC_000019.9:g.34892126G>C, NG_012838.3:g.46630G>A, NG_012838.3:g.46630G>C, NM_000175.5:c.*1185G>A, NM_000175.5:c.*1185G>C, NM_000175.4:c.*1185G>A, NM_000175.4:c.*1185G>C, NM_000175.3:c.*1185G>A, NM_000175.3:c.*1185G>C, NM_001289790.3:c.*1185G>A, NM_001289790.3:c.*1185G>C, NM_001289790.2:c.*1185G>A, NM_001289790.2:c.*1185G>C, NM_001289790.1:c.*1185G>A, NM_001289790.1:c.*1185G>C, NM_001329911.2:c.*1185G>A, NM_001329911.2:c.*1185G>C, NM_001329911.1:c.*1185G>A, NM_001329911.1:c.*1185G>C, NM_001289789.1:c.*1185G>A, NM_001289789.1:c.*1185G>C, NM_001184722.1:c.*1185G>A, NM_001184722.1:c.*1185G>C, NM_001329909.1:c.*1185G>A, NM_001329909.1:c.*1185G>C, NM_001329910.1:c.*1185G>A, NM_001329910.1:c.*1185G>C, NW_025791809.1:g.66231G>A, NW_025791809.1:g.66231G>C, XM_011526754.4:c.*1185G>A, XM_011526754.4:c.*1185G>C, XM_011526754.2:c.*1185G>A, XM_011526754.2:c.*1185G>C

Select item 14846986509.

rs1484698650 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:34399950 (GRCh38)
19:34890855 (GRCh37)
Canonical SPDI:: NC_000019.10:34399949:G:A
Gene:: GPI (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.34399950G>A, NC_000019.9:g.34890855G>A, NG_012838.3:g.45359G>A, NM_000175.5:c.1591G>A, NM_000175.4:c.1591G>A, NM_000175.3:c.1591G>A, NM_001289790.3:c.1507G>A, NM_001289790.2:c.1507G>A, NM_001289790.1:c.1507G>A, NM_001329911.2:c.1564G>A, NM_001329911.1:c.1564G>A, NM_001289789.1:c.1708G>A, NM_001184722.1:c.1624G>A, NM_001329909.1:c.1591G>A, NM_001329910.1:c.1591G>A, NW_025791809.1:g.64960G>A, XM_011526754.4:c.1708G>A, XM_011526754.3:c.1708G>A, XM_011526754.2:c.1708G>A, XM_011526754.1:c.1708G>A, NP_000166.2:p.Gly531Ser, NP_001276719.1:p.Gly503Ser, NP_001316840.1:p.Gly522Ser, NP_001276718.1:p.Gly570Ser, NP_001171651.1:p.Gly542Ser, NP_001316838.1:p.Gly531Ser, NP_001316839.1:p.Gly531Ser, XP_011525056.1:p.Gly570Ser

Select item 148436803710.

rs1484368037 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTACT>- [Show Flanks]
Chromosome:: 19:34379552 (GRCh38)
19:34870457 (GRCh37)
Canonical SPDI:: NC_000019.10:34379550:TCTACT:T
Gene:: GPI (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.34379552_34379556del, NC_000019.9:g.34870457_34870461del, NG_012838.3:g.24961_24965del, NM_000175.5:c.740_744del, NM_000175.4:c.740_744del, NM_000175.3:c.740_744del, NM_001289790.3:c.656_660del, NM_001289790.2:c.656_660del, NM_001289790.1:c.656_660del, NM_001329911.2:c.740_744del, NM_001329911.1:c.740_744del, NM_001289789.1:c.857_861del, NM_001184722.1:c.773_777del, NM_001329909.1:c.740_744del, NM_001329910.1:c.740_744del, NW_025791809.1:g.28764_28768del, NT_187619.1:g.28764_28768del, XM_011526754.4:c.857_861del, XM_011526754.3:c.857_861del, XM_011526754.2:c.857_861del, XM_011526754.1:c.857_861del, NP_000166.2:p.Leu246_Ser247insTer, NP_001276719.1:p.Leu218_Ser219insTer, NP_001316840.1:p.Leu246_Ser247insTer, NP_001276718.1:p.Leu285_Ser286insTer, NP_001171651.1:p.Leu257_Ser258insTer, NP_001316838.1:p.Leu246_Ser247insTer, NP_001316839.1:p.Leu246_Ser247insTer, XP_011525056.1:p.Leu285_Ser286insTer

Select item 148423948411.

rs1484239484 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:34400345 (GRCh38)
19:34891250 (GRCh37)
Canonical SPDI:: NC_000019.10:34400344:T:A
Gene:: GPI (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.34400345T>A, NC_000019.9:g.34891250T>A, NG_012838.3:g.45754T>A, NM_000175.5:c.*309T>A, NM_000175.4:c.*309T>A, NM_000175.3:c.*309T>A, NM_001289790.3:c.*309T>A, NM_001289790.2:c.*309T>A, NM_001289790.1:c.*309T>A, NM_001329911.2:c.*309T>A, NM_001329911.1:c.*309T>A, NM_001289789.1:c.*309T>A, NM_001184722.1:c.*309T>A, NM_001329909.1:c.*309T>A, NM_001329910.1:c.*309T>A, NW_025791809.1:g.65355T>A, XM_011526754.4:c.*309T>A, XM_011526754.2:c.*309T>A

Select item 148417311112.

rs1484173111 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:34401756 (GRCh38)
19:34892661 (GRCh37)
Canonical SPDI:: NC_000019.10:34401755:A:G
Gene:: GPI (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.34401756A>G, NC_000019.9:g.34892661A>G, NG_012838.3:g.47165A>G, NM_000175.5:c.*1720A>G, NM_000175.4:c.*1720A>G, NM_000175.3:c.*1720A>G, NM_001289790.3:c.*1720A>G, NM_001289790.2:c.*1720A>G, NM_001289790.1:c.*1720A>G, NM_001329911.2:c.*1720A>G, NM_001329911.1:c.*1720A>G, NM_001289789.1:c.*1720A>G, NM_001184722.1:c.*1720A>G, NM_001329909.1:c.*1720A>G, NM_001329910.1:c.*1720A>G, NW_025791809.1:g.66766A>G, XM_011526754.4:c.*1720A>G, XM_011526754.2:c.*1720A>G

Select item 148405650213.

rs1484056502 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:34365387 (GRCh38)
19:34856292 (GRCh37)
Canonical SPDI:: NC_000019.10:34365386:A:G
Gene:: GPI (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000005/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.34365387A>G, NC_000019.9:g.34856292A>G, NG_012838.3:g.10796A>G, NM_000175.5:c.121A>G, NM_000175.4:c.121A>G, NM_000175.3:c.121A>G, NM_001289790.3:c.121A>G, NM_001289790.2:c.121A>G, NM_001289790.1:c.121A>G, NM_001329911.2:c.121A>G, NM_001329911.1:c.121A>G, NM_001289789.1:c.238A>G, NM_001184722.1:c.238A>G, NM_001329909.1:c.121A>G, NM_001329910.1:c.121A>G, NW_025791809.1:g.14579A>G, NT_187619.1:g.14579A>G, XM_011526754.4:c.238A>G, XM_011526754.3:c.238A>G, XM_011526754.2:c.238A>G, XM_011526754.1:c.238A>G, NP_000166.2:p.Ser41Gly, NP_001276719.1:p.Ser41Gly, NP_001316840.1:p.Ser41Gly, NP_001276718.1:p.Ser80Gly, NP_001171651.1:p.Ser80Gly, NP_001316838.1:p.Ser41Gly, NP_001316839.1:p.Ser41Gly, XP_011525056.1:p.Ser80Gly

Select item 148380331414.

rs1483803314 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:34402210 (GRCh38)
19:34893115 (GRCh37)
Canonical SPDI:: NC_000019.10:34402209:G:A,NC_000019.10:34402209:G:T
Gene:: GPI (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.34402210G>A, NC_000019.10:g.34402210G>T, NC_000019.9:g.34893115G>A, NC_000019.9:g.34893115G>T, NG_012838.3:g.47619G>A, NG_012838.3:g.47619G>T, NM_000175.5:c.*2174G>A, NM_000175.5:c.*2174G>T, NM_000175.4:c.*2174G>A, NM_000175.4:c.*2174G>T, NM_000175.3:c.*2174G>A, NM_000175.3:c.*2174G>T, NM_001289790.3:c.*2174G>A, NM_001289790.3:c.*2174G>T, NM_001289790.2:c.*2174G>A, NM_001289790.2:c.*2174G>T, NM_001289790.1:c.*2174G>A, NM_001289790.1:c.*2174G>T, NM_001329911.2:c.*2174G>A, NM_001329911.2:c.*2174G>T, NM_001329911.1:c.*2174G>A, NM_001329911.1:c.*2174G>T, NM_001289789.1:c.*2174G>A, NM_001289789.1:c.*2174G>T, NM_001184722.1:c.*2174G>A, NM_001184722.1:c.*2174G>T, NM_001329909.1:c.*2174G>A, NM_001329909.1:c.*2174G>T, NM_001329910.1:c.*2174G>A, NM_001329910.1:c.*2174G>T, NW_025791809.1:g.67220G>A, NW_025791809.1:g.67220G>T, XM_011526754.4:c.*2174G>A, XM_011526754.4:c.*2174G>T, XM_011526754.2:c.*2174G>A, XM_011526754.2:c.*2174G>T

Select item 148360746815.

rs1483607468 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:34400054 (GRCh38)
19:34890959 (GRCh37)
Canonical SPDI:: NC_000019.10:34400053:G:A
Gene:: GPI (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.34400054G>A, NC_000019.9:g.34890959G>A, NG_012838.3:g.45463G>A, NM_000175.5:c.*18G>A, NM_000175.4:c.*18G>A, NM_000175.3:c.*18G>A, NM_001289790.3:c.*18G>A, NM_001289790.2:c.*18G>A, NM_001289790.1:c.*18G>A, NM_001329911.2:c.*18G>A, NM_001329911.1:c.*18G>A, NM_001289789.1:c.*18G>A, NM_001184722.1:c.*18G>A, NM_001329909.1:c.*18G>A, NM_001329910.1:c.*18G>A, NW_025791809.1:g.65064G>A, XM_011526754.4:c.*18G>A, XM_011526754.3:c.*18G>A, XM_011526754.2:c.*18G>A, XM_011526754.1:c.*18G>A

Select item 148333649316.

rs1483336493 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:34400360 (GRCh38)
19:34891265 (GRCh37)
Canonical SPDI:: NC_000019.10:34400359:C:T
Gene:: GPI (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0.0013/6 (ALFA)
T=0.0011/5 (Estonian)
HGVS:: NC_000019.10:g.34400360C>T, NC_000019.9:g.34891265C>T, NG_012838.3:g.45769C>T, NM_000175.5:c.*324C>T, NM_000175.4:c.*324C>T, NM_000175.3:c.*324C>T, NM_001289790.3:c.*324C>T, NM_001289790.2:c.*324C>T, NM_001289790.1:c.*324C>T, NM_001329911.2:c.*324C>T, NM_001329911.1:c.*324C>T, NM_001289789.1:c.*324C>T, NM_001184722.1:c.*324C>T, NM_001329909.1:c.*324C>T, NM_001329910.1:c.*324C>T, NW_025791809.1:g.65370C>T, XM_011526754.4:c.*324C>T, XM_011526754.2:c.*324C>T

Select item 148329739517.

rs1483297395 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:34402100 (GRCh38)
19:34893005 (GRCh37)
Canonical SPDI:: NC_000019.10:34402099:C:G,NC_000019.10:34402099:C:T
Gene:: GPI (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.34402100C>G, NC_000019.10:g.34402100C>T, NC_000019.9:g.34893005C>G, NC_000019.9:g.34893005C>T, NG_012838.3:g.47509C>G, NG_012838.3:g.47509C>T, NM_000175.5:c.*2064C>G, NM_000175.5:c.*2064C>T, NM_000175.4:c.*2064C>G, NM_000175.4:c.*2064C>T, NM_000175.3:c.*2064C>G, NM_000175.3:c.*2064C>T, NM_001289790.3:c.*2064C>G, NM_001289790.3:c.*2064C>T, NM_001289790.2:c.*2064C>G, NM_001289790.2:c.*2064C>T, NM_001289790.1:c.*2064C>G, NM_001289790.1:c.*2064C>T, NM_001329911.2:c.*2064C>G, NM_001329911.2:c.*2064C>T, NM_001329911.1:c.*2064C>G, NM_001329911.1:c.*2064C>T, NM_001289789.1:c.*2064C>G, NM_001289789.1:c.*2064C>T, NM_001184722.1:c.*2064C>G, NM_001184722.1:c.*2064C>T, NM_001329909.1:c.*2064C>G, NM_001329909.1:c.*2064C>T, NM_001329910.1:c.*2064C>G, NM_001329910.1:c.*2064C>T, NW_025791809.1:g.67110C>G, NW_025791809.1:g.67110C>T, XM_011526754.4:c.*2064C>G, XM_011526754.4:c.*2064C>T, XM_011526754.3:c.-3656A>G, XM_011526754.3:c.-3656A>C, XM_011526754.2:c.*2064C>G, XM_011526754.2:c.*2064C>T

Select item 148328108918.

rs1483281089 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAACTTTTTTTTTTTTTTGA>- [Show Flanks]
Chromosome:: 19:34401046 (GRCh38)
19:34891951 (GRCh37)
Canonical SPDI:: NC_000019.10:34401029:TTTTTTTTTTTTTTGACAACTTTTTTTTTTTTTTGA:TTTTTTTTTTTTTTGA
Gene:: GPI (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency
MAF:: -=0.000016/2 (GnomAD)
HGVS:: NC_000019.10:g.34401046_34401065del, NC_000019.9:g.34891951_34891970del, NG_012838.3:g.46455_46474del, NM_000175.5:c.*1010_*1029del, NM_000175.4:c.*1010_*1029del, NM_000175.3:c.*1010_*1029del, NM_001289790.3:c.*1010_*1029del, NM_001289790.2:c.*1010_*1029del, NM_001289790.1:c.*1010_*1029del, NM_001329911.2:c.*1010_*1029del, NM_001329911.1:c.*1010_*1029del, NM_001289789.1:c.*1010_*1029del, NM_001184722.1:c.*1010_*1029del, NM_001329909.1:c.*1010_*1029del, NM_001329910.1:c.*1010_*1029del, NW_025791809.1:g.66056_66075del, XM_011526754.4:c.*1010_*1029del, XM_011526754.3:c.-5623_-5615delinsTCAAAAAAAAAAAAAAGTTGTCAAAAAAAAAAA, XM_011526754.3:c.-5623_-5615delinsTCAAAAAAAAAAA, XM_011526754.2:c.*1010_*1029del

Select item 148319620319.

rs1483196203 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:34401320 (GRCh38)
19:34892225 (GRCh37)
Canonical SPDI:: NC_000019.10:34401319:C:T
Gene:: GPI (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000106/2 (TOMMO)
HGVS:: NC_000019.10:g.34401320C>T, NC_000019.9:g.34892225C>T, NG_012838.3:g.46729C>T, NM_000175.5:c.*1284C>T, NM_000175.4:c.*1284C>T, NM_000175.3:c.*1284C>T, NM_001289790.3:c.*1284C>T, NM_001289790.2:c.*1284C>T, NM_001289790.1:c.*1284C>T, NM_001329911.2:c.*1284C>T, NM_001329911.1:c.*1284C>T, NM_001289789.1:c.*1284C>T, NM_001184722.1:c.*1284C>T, NM_001329909.1:c.*1284C>T, NM_001329910.1:c.*1284C>T, NW_025791809.1:g.66330C>T, XM_011526754.4:c.*1284C>T, XM_011526754.3:c.-1746G>A, XM_011526754.2:c.*1284C>T

Select item 148292476620.

rs1482924766 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACG>- [Show Flanks]
Chromosome:: 19:34393932 (GRCh38)
19:34884837 (GRCh37)
Canonical SPDI:: NC_000019.10:34393928:ACGACG:ACG
Gene:: GPI (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACGACG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.34393929ACG[1], NC_000019.9:g.34884834ACG[1], NG_012838.3:g.39338ACG[1], NM_000175.5:c.925ACG[1], NM_000175.4:c.925ACG[1], NM_000175.3:c.925ACG[1], NM_001289790.3:c.841ACG[1], NM_001289790.2:c.841ACG[1], NM_001289790.1:c.841ACG[1], NM_001329911.2:c.925ACG[1], NM_001329911.1:c.925ACG[1], NM_001289789.1:c.1042ACG[1], NM_001184722.1:c.958ACG[1], NM_001329909.1:c.925ACG[1], NM_001329910.1:c.925ACG[1], NW_025791809.1:g.58939ACG[1], XM_011526754.4:c.1042ACG[1], XM_011526754.3:c.1042ACG[1], XM_011526754.2:c.1042ACG[1], XM_011526754.1:c.1042ACG[1], NP_000166.2:p.Thr310del, NP_001276719.1:p.Thr282del, NP_001316840.1:p.Thr310del, NP_001276718.1:p.Thr349del, NP_001171651.1:p.Thr321del, NP_001316838.1:p.Thr310del, NP_001316839.1:p.Thr310del, XP_011525056.1:p.Thr349del

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