SNP Links for Gene (Select 5626) - SNP

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Select item 14912541271.

rs1491254127 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:177992214 (GRCh38)
5:177419215 (GRCh37)
Canonical SPDI:: NC_000005.10:177992213:CA:
Gene:: PROP1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000005.10:g.177992214_177992215del, NC_000005.9:g.177419215_177419216del, NG_015889.1:g.9028_9029del, NT_187652.1:g.127086dup, NT_187652.1:g.127062del

Select item 14897669142.

rs1489766914 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:177993621 (GRCh38)
5:177420622 (GRCh37)
Canonical SPDI:: NC_000005.10:177993620:G:A,NC_000005.10:177993620:G:T
Gene:: PROP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.177993621G>A, NC_000005.10:g.177993621G>T, NC_000005.9:g.177420622G>A, NC_000005.9:g.177420622G>T, NG_015889.1:g.7622C>T, NG_015889.1:g.7622C>A, NT_187652.1:g.128468G>A, NT_187652.1:g.128468G>T

Select item 14893614583.

rs1489361458 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:177997556 (GRCh38)
5:177424557 (GRCh37)
Canonical SPDI:: NC_000005.10:177997555:A:G
Gene:: PROP1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.177997556A>G, NC_000005.9:g.177424557A>G, NG_015889.1:g.3687T>C

Select item 14892062044.

rs1489206204 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:177995820 (GRCh38)
5:177422821 (GRCh37)
Canonical SPDI:: NC_000005.10:177995819:C:T
Gene:: PROP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.177995820C>T, NC_000005.9:g.177422821C>T, NG_015889.1:g.5423G>A, NT_187652.1:g.130666C>T

Select item 14887148005.

rs1488714800 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:177997911 (GRCh38)
5:177424912 (GRCh37)
Canonical SPDI:: NC_000005.10:177997910:G:C
Gene:: PROP1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0.00007/1 (ALFA)
HGVS:: NC_000005.10:g.177997911G>C, NC_000005.9:g.177424912G>C, NG_015889.1:g.3332C>G

Select item 14886972876.

rs1488697287 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:177998107 (GRCh38)
5:177425108 (GRCh37)
Canonical SPDI:: NC_000005.10:177998106:C:T
Gene:: PROP1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.177998107C>T, NC_000005.9:g.177425108C>T, NG_015889.1:g.3136G>A

Select item 14879507737.

rs1487950773 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:177992210 (GRCh38)
5:177419211 (GRCh37)
Canonical SPDI:: NC_000005.10:177992209:G:A
Gene:: PROP1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00004/2 (GnomAD)
A=0.00008/2 (TOMMO)
HGVS:: NC_000005.10:g.177992210G>A, NC_000005.9:g.177419211G>A, NG_015889.1:g.9033C>T, NT_187652.1:g.127058G>A, NT_187546.1:g.130692G>A

Select item 14872117638.

rs1487211763 [Homo sapiens]

Variant type:: SNV:
Alleles:: G>A
Chromosome:: no mapping
Canonical SPDI:

Select item 14870052969.

rs1487005296 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:177993587 (GRCh38)
5:177420588 (GRCh37)
Canonical SPDI:: NC_000005.10:177993586:G:T
Gene:: PROP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.0027/12 (Estonian)
HGVS:: NC_000005.10:g.177993587G>T, NC_000005.9:g.177420588G>T, NG_015889.1:g.7656C>A, NT_187652.1:g.128434G>T

Select item 148519340510.

rs1485193405 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:177994464 (GRCh38)
5:177421465 (GRCh37)
Canonical SPDI:: NC_000005.10:177994463:G:A
Gene:: PROP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.177994464G>A, NC_000005.9:g.177421465G>A, NG_015889.1:g.6779C>T, NT_187652.1:g.129311G>A

Select item 148505204311.

rs1485052043 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:177997343 (GRCh38)
5:177424344 (GRCh37)
Canonical SPDI:: NC_000005.10:177997342:G:A,NC_000005.10:177997342:G:C
Gene:: PROP1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000005.10:g.177997343G>A, NC_000005.10:g.177997343G>C, NC_000005.9:g.177424344G>A, NC_000005.9:g.177424344G>C, NG_015889.1:g.3900C>T, NG_015889.1:g.3900C>G

Select item 148487040712.

rs1484870407 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:177992696 (GRCh38)
5:177419697 (GRCh37)
Canonical SPDI:: NC_000005.10:177992695:T:C
Gene:: PROP1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
HGVS:: NC_000005.10:g.177992696T>C, NC_000005.9:g.177419697T>C, NG_015889.1:g.8547A>G, NM_006261.5:c.*13A>G, NM_006261.4:c.*13A>G, NT_187652.1:g.127542T>C, NT_187546.1:g.131179T>C

Select item 148455156713.

rs1484551567 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:177992750 (GRCh38)
5:177419751 (GRCh37)
Canonical SPDI:: NC_000005.10:177992749:T:G
Gene:: PROP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.006997/83 (ALFA)
G=0.000042/6 (GnomAD_exomes)
G=0.003145/52 (TOMMO)
G=0.004841/31 (1000Genomes)
G=0.040922/119 (KOREAN)
HGVS:: NC_000005.10:g.177992750T>G, NC_000005.9:g.177419751T>G, NG_015889.1:g.8493A>C, NM_006261.5:c.640A>C, NM_006261.4:c.640A>C, NT_187652.1:g.127596T>G, NT_187546.1:g.131233T>G, NP_006252.4:p.Met214Leu

Select item 148418894114.

rs1484188941 has merged into rs5873591 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:177992223 (GRCh38)
5:177419224 (GRCh37)
Canonical SPDI:: NC_000005.10:177992214:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000005.10:177992214:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:177992214:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:177992214:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:177992214:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:177992214:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:177992214:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:177992214:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:177992214:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:177992214:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:177992214:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:177992214:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:177992214:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:177992214:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:177992214:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:177992214:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:177992214:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:177992214:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:177992214:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:177992214:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:177992214:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:177992214:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:177992214:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:177992214:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:177992214:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PROP1 (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.5/20 (GENOME_DK)
HGVS:: NC_000005.10:g.177992223_177992240del, NC_000005.10:g.177992225_177992240del, NC_000005.10:g.177992226_177992240del, NC_000005.10:g.177992227_177992240del, NC_000005.10:g.177992228_177992240del, NC_000005.10:g.177992229_177992240del, NC_000005.10:g.177992230_177992240del, NC_000005.10:g.177992231_177992240del, NC_000005.10:g.177992232_177992240del, NC_000005.10:g.177992233_177992240del, NC_000005.10:g.177992234_177992240del, NC_000005.10:g.177992235_177992240del, NC_000005.10:g.177992236_177992240del, NC_000005.10:g.177992237_177992240del, NC_000005.10:g.177992238_177992240del, NC_000005.10:g.177992239_177992240del, NC_000005.10:g.177992240del, NC_000005.10:g.177992240dup, NC_000005.10:g.177992239_177992240dup, NC_000005.10:g.177992238_177992240dup, NC_000005.10:g.177992237_177992240dup, NC_000005.10:g.177992236_177992240dup, NC_000005.10:g.177992235_177992240dup, NC_000005.10:g.177992234_177992240dup, NC_000005.10:g.177992233_177992240dup, NC_000005.9:g.177419224_177419241del, NC_000005.9:g.177419226_177419241del, NC_000005.9:g.177419227_177419241del, NC_000005.9:g.177419228_177419241del, NC_000005.9:g.177419229_177419241del, NC_000005.9:g.177419230_177419241del, NC_000005.9:g.177419231_177419241del, NC_000005.9:g.177419232_177419241del, NC_000005.9:g.177419233_177419241del, NC_000005.9:g.177419234_177419241del, NC_000005.9:g.177419235_177419241del, NC_000005.9:g.177419236_177419241del, NC_000005.9:g.177419237_177419241del, NC_000005.9:g.177419238_177419241del, NC_000005.9:g.177419239_177419241del, NC_000005.9:g.177419240_177419241del, NC_000005.9:g.177419241del, NC_000005.9:g.177419241dup, NC_000005.9:g.177419240_177419241dup, NC_000005.9:g.177419239_177419241dup, NC_000005.9:g.177419238_177419241dup, NC_000005.9:g.177419237_177419241dup, NC_000005.9:g.177419236_177419241dup, NC_000005.9:g.177419235_177419241dup, NC_000005.9:g.177419234_177419241dup, NG_015889.1:g.9011_9028del, NG_015889.1:g.9013_9028del, NG_015889.1:g.9014_9028del, NG_015889.1:g.9015_9028del, NG_015889.1:g.9016_9028del, NG_015889.1:g.9017_9028del, NG_015889.1:g.9018_9028del, NG_015889.1:g.9019_9028del, NG_015889.1:g.9020_9028del, NG_015889.1:g.9021_9028del, NG_015889.1:g.9022_9028del, NG_015889.1:g.9023_9028del, NG_015889.1:g.9024_9028del, NG_015889.1:g.9025_9028del, NG_015889.1:g.9026_9028del, NG_015889.1:g.9027_9028del, NG_015889.1:g.9028del, NG_015889.1:g.9028dup, NG_015889.1:g.9027_9028dup, NG_015889.1:g.9026_9028dup, NG_015889.1:g.9025_9028dup, NG_015889.1:g.9024_9028dup, NG_015889.1:g.9023_9028dup, NG_015889.1:g.9022_9028dup, NG_015889.1:g.9021_9028dup, NT_187652.1:g.127085_127086dup, NT_187652.1:g.127071_127086del, NT_187652.1:g.127073_127086del, NT_187652.1:g.127074_127086del, NT_187652.1:g.127075_127086del, NT_187652.1:g.127076_127086del, NT_187652.1:g.127077_127086del, NT_187652.1:g.127078_127086del, NT_187652.1:g.127079_127086del, NT_187652.1:g.127080_127086del, NT_187652.1:g.127081_127086del, NT_187652.1:g.127082_127086del, NT_187652.1:g.127083_127086del, NT_187652.1:g.127084_127086del, NT_187652.1:g.127085_127086del, NT_187652.1:g.127086del, NT_187652.1:g.127086dup, NT_187652.1:g.127084_127086dup, NT_187652.1:g.127083_127086dup, NT_187652.1:g.127082_127086dup, NT_187652.1:g.127081_127086dup, NT_187652.1:g.127080_127086dup, NT_187652.1:g.127079_127086dup, NT_187652.1:g.127078_127086dup, NT_187652.1:g.127077_127086dup, NT_187546.1:g.130706_130723del, NT_187546.1:g.130708_130723del, NT_187546.1:g.130709_130723del, NT_187546.1:g.130710_130723del, NT_187546.1:g.130711_130723del, NT_187546.1:g.130712_130723del, NT_187546.1:g.130713_130723del, NT_187546.1:g.130714_130723del, NT_187546.1:g.130715_130723del, NT_187546.1:g.130716_130723del, NT_187546.1:g.130717_130723del, NT_187546.1:g.130718_130723del, NT_187546.1:g.130719_130723del, NT_187546.1:g.130720_130723del, NT_187546.1:g.130721_130723del, NT_187546.1:g.130722_130723del, NT_187546.1:g.130723del, NT_187546.1:g.130723dup, NT_187546.1:g.130722_130723dup, NT_187546.1:g.130721_130723dup, NT_187546.1:g.130720_130723dup, NT_187546.1:g.130719_130723dup, NT_187546.1:g.130718_130723dup, NT_187546.1:g.130717_130723dup, NT_187546.1:g.130716_130723dup

Select item 148386605915.

rs1483866059 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:177996163 (GRCh38)
5:177423164 (GRCh37)
Canonical SPDI:: NC_000005.10:177996162:T:C
Gene:: PROP1 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.177996163T>C, NC_000005.9:g.177423164T>C, NG_015889.1:g.5080A>G, NM_006261.5:c.-230A>G, NM_006261.4:c.-230A>G

Select item 148355560216.

rs1483555602 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:177992675 (GRCh38)
5:177419676 (GRCh37)
Canonical SPDI:: NC_000005.10:177992674:G:T
Gene:: PROP1 (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_000005.10:g.177992675G>T, NC_000005.9:g.177419676G>T, NG_015889.1:g.8568C>A, NM_006261.5:c.*34C>A, NM_006261.4:c.*34C>A, NT_187652.1:g.127521G>T, NT_187546.1:g.131158G>T

Select item 148355231417.

rs1483552314 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:177997294 (GRCh38)
5:177424295 (GRCh37)
Canonical SPDI:: NC_000005.10:177997293:G:A
Gene:: PROP1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.177997294G>A, NC_000005.9:g.177424295G>A, NG_015889.1:g.3949C>T

Select item 148293206018.

rs1482932060 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:177992277 (GRCh38)
5:177419278 (GRCh37)
Canonical SPDI:: NC_000005.10:177992276:T:C
Gene:: PROP1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/1 (GnomAD)
HGVS:: NC_000005.10:g.177992277T>C, NC_000005.9:g.177419278T>C, NG_015889.1:g.8966A>G, NM_006261.5:c.*432A>G, NM_006261.4:c.*432A>G, NT_187652.1:g.127123T>C, NT_187546.1:g.130760T>C

Select item 148233289119.

rs1482332891 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:177997799 (GRCh38)
5:177424800 (GRCh37)
Canonical SPDI:: NC_000005.10:177997798:G:A,NC_000005.10:177997798:G:T
Gene:: PROP1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000029/4 (GnomAD)
A=0.000312/2 (1000Genomes)
HGVS:: NC_000005.10:g.177997799G>A, NC_000005.10:g.177997799G>T, NC_000005.9:g.177424800G>A, NC_000005.9:g.177424800G>T, NG_015889.1:g.3444C>T, NG_015889.1:g.3444C>A

Select item 148202507020.

rs1482025070 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:177993157 (GRCh38)
5:177420158 (GRCh37)
Canonical SPDI:: NC_000005.10:177993156:A:G
Gene:: PROP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.177993157A>G, NC_000005.9:g.177420158A>G, NG_015889.1:g.8086T>C, NT_187652.1:g.128003A>G, NT_187546.1:g.131640A>G

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