SNP Links for Gene (Select 27315) - SNP

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Select item 14915209611.

rs1491520961 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 11:3818326 (GRCh38)
11:3839556 (GRCh37)
Canonical SPDI:: NC_000011.10:3818325:CA:
Gene:: PGAP2 (Varview), LOC124902618 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000011.10:g.3818326_3818327del, NC_000011.9:g.3839556_3839557del, NG_051812.1:g.25603_25604del

Select item 14914783052.

rs1491478305 has merged into rs112928434 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 11:3818074 (GRCh38)
11:3839304 (GRCh37)
Canonical SPDI:: NC_000011.10:3818062:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:3818062:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:3818062:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:3818062:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:3818062:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:3818062:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
Gene:: PGAP2 (Varview), LOC124902618 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
AA=0.25/2 (KOREAN)
-=0.4788/2398 (1000Genomes)
HGVS:: NC_000011.10:g.3818074_3818075del, NC_000011.10:g.3818075del, NC_000011.10:g.3818075dup, NC_000011.10:g.3818074_3818075dup, NC_000011.10:g.3818073_3818075dup, NC_000011.10:g.3818072_3818075dup, NC_000011.9:g.3839304_3839305del, NC_000011.9:g.3839305del, NC_000011.9:g.3839305dup, NC_000011.9:g.3839304_3839305dup, NC_000011.9:g.3839303_3839305dup, NC_000011.9:g.3839302_3839305dup, NG_051812.1:g.25351_25352del, NG_051812.1:g.25352del, NG_051812.1:g.25352dup, NG_051812.1:g.25351_25352dup, NG_051812.1:g.25350_25352dup, NG_051812.1:g.25349_25352dup

Select item 14914680613.

rs1491468061 has merged into rs965285453 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTTTT [Show Flanks]
Chromosome:: 11:3815321 (GRCh38)
11:3836551 (GRCh37)
Canonical SPDI:: NC_000011.10:3815310:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000011.10:3815310:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:3815310:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:3815310:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:3815310:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
Gene:: PGAP2 (Varview), LOC124902618 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0.00011/2 (ALFA)
T=0.00316/53 (TOMMO)
-=0.00344/22 (1000Genomes)
-=0.015/9 (NorthernSweden)
HGVS:: NC_000011.10:g.3815321_3815323del, NC_000011.10:g.3815322_3815323del, NC_000011.10:g.3815323del, NC_000011.10:g.3815323dup, NC_000011.10:g.3815320_3815323dup, NC_000011.9:g.3836551_3836553del, NC_000011.9:g.3836552_3836553del, NC_000011.9:g.3836553del, NC_000011.9:g.3836553dup, NC_000011.9:g.3836550_3836553dup, NG_051812.1:g.22598_22600del, NG_051812.1:g.22599_22600del, NG_051812.1:g.22600del, NG_051812.1:g.22600dup, NG_051812.1:g.22597_22600dup, XM_006718181.4:c.-766_-764del, XM_006718181.4:c.-765_-764del, XM_006718181.4:c.-764del, XM_006718181.4:c.-764dup, XM_006718181.4:c.-767_-764dup

Select item 14914079504.

rs1491407950 has merged into rs772606488 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:3801654 (GRCh38)
11:3822884 (GRCh37)
Canonical SPDI:: NC_000011.10:3801641:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:3801641:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:3801641:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:3801641:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:3801641:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:3801641:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:3801641:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:3801641:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:3801641:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:3801641:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:3801641:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:3801641:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:3801641:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:3801641:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PGAP2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000011.10:g.3801654_3801660del, NC_000011.10:g.3801655_3801660del, NC_000011.10:g.3801657_3801660del, NC_000011.10:g.3801658_3801660del, NC_000011.10:g.3801659_3801660del, NC_000011.10:g.3801660del, NC_000011.10:g.3801660dup, NC_000011.10:g.3801659_3801660dup, NC_000011.10:g.3801658_3801660dup, NC_000011.10:g.3801657_3801660dup, NC_000011.10:g.3801656_3801660dup, NC_000011.10:g.3801655_3801660dup, NC_000011.10:g.3801654_3801660dup, NC_000011.10:g.3801653_3801660dup, NC_000011.9:g.3822884_3822890del, NC_000011.9:g.3822885_3822890del, NC_000011.9:g.3822887_3822890del, NC_000011.9:g.3822888_3822890del, NC_000011.9:g.3822889_3822890del, NC_000011.9:g.3822890del, NC_000011.9:g.3822890dup, NC_000011.9:g.3822889_3822890dup, NC_000011.9:g.3822888_3822890dup, NC_000011.9:g.3822887_3822890dup, NC_000011.9:g.3822886_3822890dup, NC_000011.9:g.3822885_3822890dup, NC_000011.9:g.3822884_3822890dup, NC_000011.9:g.3822883_3822890dup, NG_051812.1:g.8931_8937del, NG_051812.1:g.8932_8937del, NG_051812.1:g.8934_8937del, NG_051812.1:g.8935_8937del, NG_051812.1:g.8936_8937del, NG_051812.1:g.8937del, NG_051812.1:g.8937dup, NG_051812.1:g.8936_8937dup, NG_051812.1:g.8935_8937dup, NG_051812.1:g.8934_8937dup, NG_051812.1:g.8933_8937dup, NG_051812.1:g.8932_8937dup, NG_051812.1:g.8931_8937dup, NG_051812.1:g.8930_8937dup

Select item 14913800055.

rs1491380005 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 11:3814776 (GRCh38)
11:3836006 (GRCh37)
Canonical SPDI:: NC_000011.10:3814774:TCT:T
Gene:: PGAP2 (Varview), LOC124902618 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00019/3 (ALFA)
-=0.00013/13 (GnomAD)
HGVS:: NC_000011.10:g.3814776_3814777del, NC_000011.9:g.3836006_3836007del, NG_051812.1:g.22053_22054del

Select item 14913033676.

rs1491303367 has merged into rs5789309 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAAA [Show Flanks]
Chromosome:: 11:3818341 (GRCh38)
11:3839571 (GRCh37)
Canonical SPDI:: NC_000011.10:3818326:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:3818326:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:3818326:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:3818326:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:3818326:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: PGAP2 (Varview), LOC124902618 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.0771/297 (ALSPAC)
A=0.4792/2400 (1000Genomes)
HGVS:: NC_000011.10:g.3818341_3818343del, NC_000011.10:g.3818342_3818343del, NC_000011.10:g.3818343del, NC_000011.10:g.3818343dup, NC_000011.10:g.3818341_3818343dup, NC_000011.9:g.3839571_3839573del, NC_000011.9:g.3839572_3839573del, NC_000011.9:g.3839573del, NC_000011.9:g.3839573dup, NC_000011.9:g.3839571_3839573dup, NG_051812.1:g.25618_25620del, NG_051812.1:g.25619_25620del, NG_051812.1:g.25620del, NG_051812.1:g.25620dup, NG_051812.1:g.25618_25620dup

Select item 14912577277.

rs1491257727 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 11:3825734 (GRCh38)
11:3846964 (GRCh37)
Canonical SPDI:: NC_000011.10:3825733:AC:
Gene:: PGAP2 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.3825734_3825735del, NC_000011.9:g.3846964_3846965del, NG_051812.1:g.33011_33012del, NR_027017.4:n.1585_1586del, NR_027017.3:n.1664_1665del, NR_027017.2:n.1524_1525del, NM_014489.4:c.*276_*277del, NM_014489.3:c.*276_*277del, NR_027016.3:n.968_969del, NR_027016.2:n.992_993del, NR_144428.2:n.1500_1501del, NR_144428.1:n.1524_1525del, NM_001346401.2:c.*415_*416del, NM_001346401.1:c.*415_*416del, NM_001346399.2:c.*415_*416del, NM_001346399.1:c.*415_*416del, NM_001346397.2:c.*276_*277del, NM_001346397.1:c.*276_*277del, NR_144429.2:n.1252_1253del, NR_144429.1:n.1276_1277del, NM_001346402.2:c.*276_*277del, NM_001346402.1:c.*276_*277del, NR_104271.2:n.1231_1232del, NR_104271.1:n.1310_1311del, NM_001145438.2:c.*276_*277del, NR_027018.2:n.1189_1190del, NM_001346398.2:c.*276_*277del, NM_001346398.1:c.*276_*277del, NM_001256240.2:c.*276_*277del, NM_001256240.1:c.*276_*277del, NM_001346400.2:c.*276_*277del, NM_001346400.1:c.*276_*277del, NM_001256239.2:c.*276_*277del, NM_001256239.1:c.*276_*277del, NR_045929.2:n.1084_1085del, NR_045929.1:n.1108_1109del, NR_045927.2:n.1062_1063del, NR_045927.1:n.1141_1142del, NR_144427.2:n.1056_1057del, NR_144427.1:n.1135_1136del, NR_045923.2:n.983_984del, NR_045923.1:n.1062_1063del, NR_104270.2:n.971_972del, NR_104270.1:n.1050_1051del, NR_104272.2:n.956_957del, NR_104272.1:n.980_981del, NR_045926.2:n.905_906del, NR_045926.1:n.984_985del, NR_045925.2:n.893_894del, NR_045925.1:n.972_973del, NR_144430.2:n.715_716del, NR_144430.1:n.739_740del, NM_001256236.1:c.*276_*277del, NM_001346403.1:c.*415_*416del, NM_001256237.1:c.*415_*416del, NM_001283038.1:c.*276_*277del, NM_001346404.1:c.*415_*416del, NM_001256238.1:c.*415_*416del, NM_001283039.1:c.*415_*416del, NM_001256235.1:c.*276_*277del, NM_001346405.1:c.*276_*277del, NM_001283040.1:c.*415_*416del, XM_006718181.4:c.*276_*277del, XM_006718181.3:c.*276_*277del, XM_006718181.2:c.*276_*277del, XM_006718181.1:c.*276_*277del, XM_011519998.3:c.*276_*277del, XM_011519998.2:c.*276_*277del, XM_011519998.1:c.*276_*277del, XM_011520004.3:c.*276_*277del, XM_011520004.2:c.*276_*277del, XM_011520004.1:c.*276_*277del, XM_011519990.3:c.*276_*277del, XM_011519990.2:c.*276_*277del, XM_011519990.1:c.*276_*277del, XM_011519991.3:c.*276_*277del, XM_011519991.2:c.*276_*277del, XM_011519991.1:c.*276_*277del, XM_006718185.3:c.*276_*277del, XM_006718185.2:c.*276_*277del, XM_006718185.1:c.*276_*277del, XM_011519992.2:c.*276_*277del, XM_011519992.1:c.*276_*277del, XM_011519996.2:c.*276_*277del, XM_011519996.1:c.*276_*277del, XM_011519999.2:c.*276_*277del, XM_011519999.1:c.*276_*277del, XM_024448444.2:c.*276_*277del, XM_024448444.1:c.*276_*277del, XM_024448443.2:c.*276_*277del, XM_024448443.1:c.*276_*277del, XM_011520002.2:c.*276_*277del, XM_011520002.1:c.*276_*277del, XM_047426778.1:c.*276_*277del, XM_047426777.1:c.*276_*277del, XM_047426780.1:c.*276_*277del, NR_027015.1:n.1337_1338del, XM_047426781.1:c.*276_*277del, XM_047426786.1:c.*276_*277del, XM_047426779.1:c.*276_*277del, XM_047426783.1:c.*276_*277del, XM_047426788.1:c.*276_*277del, XM_047426787.1:c.*276_*277del, NR_027014.1:n.1178_1179del, XM_047426782.1:c.*276_*277del, NM_001145439.1:c.*415_*416del

Select item 14912464808.

rs1491246480 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 11:3818062 (GRCh38)
11:3839292 (GRCh37)
Canonical SPDI:: NC_000011.10:3818060:ATA:A
Gene:: PGAP2 (Varview), LOC124902618 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000011.10:g.3818062_3818063del, NC_000011.9:g.3839292_3839293del, NG_051812.1:g.25339_25340del

Select item 14912387499.

rs1491238749 [Homo sapiens]

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

Select item 149117269710.

rs1491172697 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 11:3818061 (GRCh38)
11:3839292 (GRCh37)
Canonical SPDI:: NC_000011.10:3818061:T:TT
Gene:: PGAP2 (Varview), LOC124902618 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.00002/2 (GnomAD)
HGVS:: NC_000011.10:g.3818062dup, NC_000011.9:g.3839292dup, NG_051812.1:g.25339dup

Select item 149102928011.

rs1491029280 has merged into rs386372940 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>-,CACA [Show Flanks]
Chromosome:: 11:3818076 (GRCh38)
11:3839306 (GRCh37)
Canonical SPDI:: NC_000011.10:3818074:ACA:A,NC_000011.10:3818074:ACA:ACACA
Gene:: PGAP2 (Varview), LOC124902618 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACA=0./0 (ALFA)
AC=0.000022/3 (GnomAD)
AC=0.000143/2 (TOMMO)
AC=0.001638/3 (Korea1K)
HGVS:: NC_000011.10:g.3818076_3818077del, NC_000011.10:g.3818076_3818077dup, NC_000011.9:g.3839306_3839307del, NC_000011.9:g.3839306_3839307dup, NG_051812.1:g.25353_25354del, NG_051812.1:g.25353_25354dup

Select item 149101025012.

rs1491010250 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>-,CTCT [Show Flanks]
Chromosome:: 11:3814804 (GRCh38)
11:3836034 (GRCh37)
Canonical SPDI:: NC_000011.10:3814802:TCT:T,NC_000011.10:3814802:TCT:TCTCT
Gene:: PGAP2 (Varview), LOC124902618 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TCTCT=0./0 (ALFA)
-=0.000009/1 (GnomAD)
HGVS:: NC_000011.10:g.3814804_3814805del, NC_000011.10:g.3814804_3814805dup, NC_000011.9:g.3836034_3836035del, NC_000011.9:g.3836034_3836035dup, NG_051812.1:g.22081_22082del, NG_051812.1:g.22081_22082dup

Select item 149086150313.

rs1490861503 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTT>- [Show Flanks]
Chromosome:: 11:3814871 (GRCh38)
11:3836101 (GRCh37)
Canonical SPDI:: NC_000011.10:3814868:TTCTT:TT
Gene:: PGAP2 (Varview), LOC124902618 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000029/4 (GnomAD)
HGVS:: NC_000011.10:g.3814871_3814873del, NC_000011.9:g.3836101_3836103del, NG_051812.1:g.22148_22150del

Select item 149079438314.

rs1490794383 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:3800024 (GRCh38)
11:3821254 (GRCh37)
Canonical SPDI:: NC_000011.10:3800023:C:T
Gene:: PGAP2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.3800024C>T, NC_000011.9:g.3821254C>T, NG_051812.1:g.7301C>T

Select item 149078959015.

rs1490789590 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:3806453 (GRCh38)
11:3827683 (GRCh37)
Canonical SPDI:: NC_000011.10:3806452:C:T
Gene:: PGAP2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000023/6 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000011.10:g.3806453C>T, NC_000011.9:g.3827683C>T, NG_051812.1:g.13730C>T

Select item 149072852216.

rs1490728522 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:3821271 (GRCh38)
11:3842501 (GRCh37)
Canonical SPDI:: NC_000011.10:3821270:C:T
Gene:: PGAP2 (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_000011.10:g.3821271C>T, NC_000011.9:g.3842501C>T, NG_051812.1:g.28548C>T

Select item 149059129017.

rs1490591290 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:3822316 (GRCh38)
11:3843546 (GRCh37)
Canonical SPDI:: NC_000011.10:3822315:A:T
Gene:: PGAP2 (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_000011.10:g.3822316A>T, NC_000011.9:g.3843546A>T, NG_051812.1:g.29593A>T

Select item 149043018418.

rs1490430184 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 11:3817699 (GRCh38)
11:3838929 (GRCh37)
Canonical SPDI:: NC_000011.10:3817698:G:C,NC_000011.10:3817698:G:T
Gene:: PGAP2 (Varview), LOC124902618 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.3817699G>C, NC_000011.10:g.3817699G>T, NC_000011.9:g.3838929G>C, NC_000011.9:g.3838929G>T, NG_051812.1:g.24976G>C, NG_051812.1:g.24976G>T

Select item 149034877619.

rs1490348776 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:3807208 (GRCh38)
11:3828438 (GRCh37)
Canonical SPDI:: NC_000011.10:3807207:G:A
Gene:: PGAP2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000034/9 (TOPMED)
A=0.000044/6 (GnomAD)
A=0.000156/1 (1000Genomes)
A=0.000248/4 (TOMMO)
A=0.000684/2 (KOREAN)
HGVS:: NC_000011.10:g.3807208G>A, NC_000011.9:g.3828438G>A, NG_051812.1:g.14485G>A

Select item 149027878520.

rs1490278785 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:3807606 (GRCh38)
11:3828836 (GRCh37)
Canonical SPDI:: NC_000011.10:3807605:C:T
Gene:: PGAP2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000342/1 (KOREAN)
HGVS:: NC_000011.10:g.3807606C>T, NC_000011.9:g.3828836C>T, NG_051812.1:g.14883C>T

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