SNP Links for Gene (Select 222171) - SNP

Links from Gene

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Select item 14910434251.

rs1491043425 has merged into rs35118977 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:29563064 (GRCh38)
7:29602680 (GRCh37)
Canonical SPDI:: NC_000007.14:29563050:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:29563050:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:29563050:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:29563050:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:29563050:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:29563050:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:29563050:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:29563050:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:29563050:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:29563050:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:29563050:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:29563050:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:29563050:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:29563050:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PRR15 (Varview), PRR15-DT (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000007.14:g.29563064_29563071del, NC_000007.14:g.29563065_29563071del, NC_000007.14:g.29563066_29563071del, NC_000007.14:g.29563067_29563071del, NC_000007.14:g.29563068_29563071del, NC_000007.14:g.29563069_29563071del, NC_000007.14:g.29563070_29563071del, NC_000007.14:g.29563071del, NC_000007.14:g.29563071dup, NC_000007.14:g.29563070_29563071dup, NC_000007.14:g.29563069_29563071dup, NC_000007.14:g.29563068_29563071dup, NC_000007.14:g.29563067_29563071dup, NC_000007.14:g.29563066_29563071dup, NC_000007.13:g.29602680_29602687del, NC_000007.13:g.29602681_29602687del, NC_000007.13:g.29602682_29602687del, NC_000007.13:g.29602683_29602687del, NC_000007.13:g.29602684_29602687del, NC_000007.13:g.29602685_29602687del, NC_000007.13:g.29602686_29602687del, NC_000007.13:g.29602687del, NC_000007.13:g.29602687dup, NC_000007.13:g.29602686_29602687dup, NC_000007.13:g.29602685_29602687dup, NC_000007.13:g.29602684_29602687dup, NC_000007.13:g.29602683_29602687dup, NC_000007.13:g.29602682_29602687dup

Select item 14910306712.

rs1491030671 has merged into rs552594154 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:29562241 (GRCh38)
7:29601857 (GRCh37)
Canonical SPDI:: NC_000007.14:29562229:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:29562229:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:29562229:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:29562229:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:29562229:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:29562229:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:29562229:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:29562229:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:29562229:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:29562229:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:29562229:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:29562229:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:29562229:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:29562229:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:29562229:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:29562229:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:29562229:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:29562229:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:29562229:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PRR15 (Varview), PRR15-DT (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000007.14:g.29562241_29562252del, NC_000007.14:g.29562243_29562252del, NC_000007.14:g.29562245_29562252del, NC_000007.14:g.29562246_29562252del, NC_000007.14:g.29562247_29562252del, NC_000007.14:g.29562248_29562252del, NC_000007.14:g.29562249_29562252del, NC_000007.14:g.29562250_29562252del, NC_000007.14:g.29562251_29562252del, NC_000007.14:g.29562252del, NC_000007.14:g.29562252dup, NC_000007.14:g.29562251_29562252dup, NC_000007.14:g.29562250_29562252dup, NC_000007.14:g.29562249_29562252dup, NC_000007.14:g.29562248_29562252dup, NC_000007.14:g.29562247_29562252dup, NC_000007.14:g.29562244_29562252dup, NC_000007.14:g.29562239_29562252dup, NC_000007.14:g.29562231_29562252dup, NC_000007.13:g.29601857_29601868del, NC_000007.13:g.29601859_29601868del, NC_000007.13:g.29601861_29601868del, NC_000007.13:g.29601862_29601868del, NC_000007.13:g.29601863_29601868del, NC_000007.13:g.29601864_29601868del, NC_000007.13:g.29601865_29601868del, NC_000007.13:g.29601866_29601868del, NC_000007.13:g.29601867_29601868del, NC_000007.13:g.29601868del, NC_000007.13:g.29601868dup, NC_000007.13:g.29601867_29601868dup, NC_000007.13:g.29601866_29601868dup, NC_000007.13:g.29601865_29601868dup, NC_000007.13:g.29601864_29601868dup, NC_000007.13:g.29601863_29601868dup, NC_000007.13:g.29601860_29601868dup, NC_000007.13:g.29601855_29601868dup, NC_000007.13:g.29601847_29601868dup

Select item 14908099383.

rs1490809938 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:29565111 (GRCh38)
7:29604727 (GRCh37)
Canonical SPDI:: NC_000007.14:29565110:G:A
Gene:: PRR15 (Varview), PRR15-DT (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000036/5 (GnomAD)
A=0.00006/16 (TOPMED)
HGVS:: NC_000007.14:g.29565111G>A, NC_000007.13:g.29604727G>A

Select item 14902932214.

rs1490293221 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:29566507 (GRCh38)
7:29606123 (GRCh37)
Canonical SPDI:: NC_000007.14:29566506:C:T
Gene:: PRR15 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
HGVS:: NC_000007.14:g.29566507C>T, NC_000007.13:g.29606123C>T, NM_175887.3:c.178C>T, NM_175887.2:c.178C>T, XM_011515199.2:c.178C>T, XM_011515199.1:c.178C>T, NM_001329996.2:c.178C>T, NM_001329996.1:c.178C>T, XM_011515198.2:c.178C>T, XM_011515198.1:c.178C>T, NM_001329997.1:c.178C>T, NP_787083.1:p.Gln60Ter, XP_011513501.1:p.Gln60Ter, NP_001316925.1:p.Gln60Ter, XP_011513500.1:p.Gln60Ter, NP_001316926.1:p.Gln60Ter

Select item 14902324425.

rs1490232442 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:29563120 (GRCh38)
7:29602736 (GRCh37)
Canonical SPDI:: NC_000007.14:29563119:G:A
Gene:: PRR15 (Varview), PRR15-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.29563120G>A, NC_000007.13:g.29602736G>A

Select item 14895037566.

rs1489503756 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:29566972 (GRCh38)
7:29606588 (GRCh37)
Canonical SPDI:: NC_000007.14:29566971:G:A
Gene:: PRR15 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.29566972G>A, NC_000007.13:g.29606588G>A, NM_175887.3:c.*253G>A, NM_175887.2:c.*253G>A, XM_011515199.2:c.*253G>A, XM_011515199.1:c.*253G>A, NM_001329996.2:c.*253G>A, NM_001329996.1:c.*253G>A, XM_011515198.2:c.*253G>A, XM_011515198.1:c.*253G>A, NM_001329997.1:c.*253G>A

Select item 14892181837.

rs1489218183 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:29563538 (GRCh38)
7:29603154 (GRCh37)
Canonical SPDI:: NC_000007.14:29563537:C:T
Gene:: PRR15 (Varview), PRR15-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.29563538C>T, NC_000007.13:g.29603154C>T, XR_007060269.1:n.154G>A

Select item 14891991778.

rs1489199177 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:29565587 (GRCh38)
7:29605203 (GRCh37)
Canonical SPDI:: NC_000007.14:29565586:C:T
Gene:: PRR15 (Varview), PRR15-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.0002/1 (ALFA)
HGVS:: NC_000007.14:g.29565587C>T, NC_000007.13:g.29605203C>T, XM_011515198.2:c.-307C>T, XM_011515198.1:c.-307C>T, NM_001329997.1:c.-312C>T

Select item 14889953929.

rs1488995392 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:29566313 (GRCh38)
7:29605929 (GRCh37)
Canonical SPDI:: NC_000007.14:29566312:C:T
Gene:: PRR15 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.29566313C>T, NC_000007.13:g.29605929C>T, NM_175887.3:c.-17C>T, NM_175887.2:c.-17C>T, XM_011515199.2:c.-17C>T, XM_011515199.1:c.-17C>T, NM_001329996.2:c.-17C>T, NM_001329996.1:c.-17C>T, XM_011515198.2:c.-17C>T, XM_011515198.1:c.-17C>T, NM_001329997.1:c.-17C>T

Select item 148801883510.

rs1488018835 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:29566537 (GRCh38)
7:29606153 (GRCh37)
Canonical SPDI:: NC_000007.14:29566536:G:A
Gene:: PRR15 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.29566537G>A, NC_000007.13:g.29606153G>A, NM_175887.3:c.208G>A, NM_175887.2:c.208G>A, XM_011515199.2:c.208G>A, XM_011515199.1:c.208G>A, NM_001329996.2:c.208G>A, NM_001329996.1:c.208G>A, XM_011515198.2:c.208G>A, XM_011515198.1:c.208G>A, NM_001329997.1:c.208G>A, NP_787083.1:p.Glu70Lys, XP_011513501.1:p.Glu70Lys, NP_001316925.1:p.Glu70Lys, XP_011513500.1:p.Glu70Lys, NP_001316926.1:p.Glu70Lys

Select item 148757265611.

rs1487572656 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:29565544 (GRCh38)
7:29605160 (GRCh37)
Canonical SPDI:: NC_000007.14:29565543:A:C
Gene:: PRR15 (Varview), PRR15-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.29565544A>C, NC_000007.13:g.29605160A>C, XM_011515198.2:c.-350A>C, XM_011515198.1:c.-350A>C, NM_001329997.1:c.-355A>C

Select item 148754963512.

rs1487549635 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:29565206 (GRCh38)
7:29604822 (GRCh37)
Canonical SPDI:: NC_000007.14:29565205:G:A
Gene:: PRR15 (Varview), PRR15-DT (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.29565206G>A, NC_000007.13:g.29604822G>A

Select item 148743739513.

rs1487437395 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:29564375 (GRCh38)
7:29603991 (GRCh37)
Canonical SPDI:: NC_000007.14:29564374:C:T
Gene:: PRR15 (Varview), PRR15-DT (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.29564375C>T, NC_000007.13:g.29603991C>T, NM_175887.3:c.-148C>T, NM_175887.2:c.-148C>T, XM_011515199.2:c.-433C>T, NM_001329996.2:c.-143C>T, NM_001329996.1:c.-143C>T

Select item 148732120314.

rs1487321203 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:29561843 (GRCh38)
7:29601459 (GRCh37)
Canonical SPDI:: NC_000007.14:29561842:C:G
Gene:: PRR15 (Varview), PRR15-DT (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000026/7 (TOPMED)
HGVS:: NC_000007.14:g.29561843C>G, NC_000007.13:g.29601459C>G

Select item 148711133315.

rs1487111333 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:29562084 (GRCh38)
7:29601700 (GRCh37)
Canonical SPDI:: NC_000007.14:29562083:A:G
Gene:: PRR15 (Varview), PRR15-DT (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.29562084A>G, NC_000007.13:g.29601700A>G

Select item 148676882316.

rs1486768823 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:29565087 (GRCh38)
7:29604703 (GRCh37)
Canonical SPDI:: NC_000007.14:29565086:T:A
Gene:: PRR15 (Varview), PRR15-DT (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.29565087T>A, NC_000007.13:g.29604703T>A

Select item 148663348517.

rs1486633485 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:29566765 (GRCh38)
7:29606381 (GRCh37)
Canonical SPDI:: NC_000007.14:29566764:C:T
Gene:: PRR15 (Varview)
Functional Consequence:: 3_prime_UTR_variant
HGVS:: NC_000007.14:g.29566765C>T, NC_000007.13:g.29606381C>T, NM_175887.3:c.*46C>T, NM_175887.2:c.*46C>T, XM_011515199.2:c.*46C>T, XM_011515199.1:c.*46C>T, NM_001329996.2:c.*46C>T, NM_001329996.1:c.*46C>T, XM_011515198.2:c.*46C>T, XM_011515198.1:c.*46C>T, NM_001329997.1:c.*46C>T

Select item 148630747818.

rs1486307478 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:29567247 (GRCh38)
7:29606863 (GRCh37)
Canonical SPDI:: NC_000007.14:29567246:C:A,NC_000007.14:29567246:C:T
Gene:: PRR15 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.29567247C>A, NC_000007.14:g.29567247C>T, NC_000007.13:g.29606863C>A, NC_000007.13:g.29606863C>T, NM_175887.3:c.*528C>A, NM_175887.3:c.*528C>T, NM_175887.2:c.*528C>A, NM_175887.2:c.*528C>T, XM_011515199.2:c.*528C>A, XM_011515199.2:c.*528C>T, XM_011515199.1:c.*528C>A, XM_011515199.1:c.*528C>T, NM_001329996.2:c.*528C>A, NM_001329996.2:c.*528C>T, NM_001329996.1:c.*528C>A, NM_001329996.1:c.*528C>T, XM_011515198.2:c.*528C>A, XM_011515198.2:c.*528C>T, XM_011515198.1:c.*528C>A, XM_011515198.1:c.*528C>T, NM_001329997.1:c.*528C>A, NM_001329997.1:c.*528C>T

Select item 148624167419.

rs1486241674 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:29566803 (GRCh38)
7:29606419 (GRCh37)
Canonical SPDI:: NC_000007.14:29566802:C:T
Gene:: PRR15 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.29566803C>T, NC_000007.13:g.29606419C>T, NM_175887.3:c.*84C>T, NM_175887.2:c.*84C>T, XM_011515199.2:c.*84C>T, XM_011515199.1:c.*84C>T, NM_001329996.2:c.*84C>T, NM_001329996.1:c.*84C>T, XM_011515198.2:c.*84C>T, XM_011515198.1:c.*84C>T, NM_001329997.1:c.*84C>T

Select item 148600575520.

rs1486005755 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:29563442 (GRCh38)
7:29603058 (GRCh37)
Canonical SPDI:: NC_000007.14:29563441:G:A
Gene:: PRR15 (Varview), PRR15-DT (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.29563442G>A, NC_000007.13:g.29603058G>A, XR_007060269.1:n.250C>T

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dbSNP

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