SNP Links for Protein (Select 399124755) - SNP

Links from Protein

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Select item 14908025911.

rs1490802591 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:30688688 (GRCh38)
6:30656465 (GRCh37)
Canonical SPDI:: NC_000006.12:30688687:A:G
Gene:: NRM (Varview), PPP1R18 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30688688A>G, NC_000006.11:g.30656465A>G, NT_113891.3:g.2168432A>G, NT_113891.2:g.2168538A>G, NT_167248.2:g.1943802A>G, NT_167248.1:g.1949398A>G, NT_167245.2:g.1944542A>G, NT_167245.1:g.1950127A>G, NT_167246.2:g.1998941A>G, NT_167246.1:g.2004561A>G, NT_167247.2:g.2032765A>G, NT_167247.1:g.2038350A>G, NT_167244.2:g.2018195A>G, NT_167244.1:g.1968111A>G, NM_007243.3:c.762T>C, NM_007243.2:c.762T>C, XM_017010224.3:c.525T>C, XM_017010224.2:c.525T>C, XM_017010224.1:c.525T>C, NR_073065.2:n.794T>C, NR_073065.1:n.939T>C, NM_001270707.2:c.780T>C, NM_001270707.1:c.780T>C, NM_001270708.2:c.*271T>C, NM_001270708.1:c.*271T>C, NR_073066.2:n.575T>C, NR_073066.1:n.720T>C, NM_001270710.2:c.*58T>C, NM_001270710.1:c.*58T>C, NM_001270709.2:c.585T>C, NM_001270709.1:c.585T>C, NR_073072.2:n.589T>C, NR_073072.1:n.583T>C, NM_001384369.1:c.762T>C, XM_047418138.1:c.483T>C

Select item 14885371412.

rs1488537141 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 6:30690189 (GRCh38)
6:30657966 (GRCh37)
Canonical SPDI:: NC_000006.12:30690188:A:
Gene:: NRM (Varview), PPP1R18 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,frameshift_variant,upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000023/6 (TOPMED)
-=0.000036/5 (GnomAD)
HGVS:: NC_000006.12:g.30690189del, NC_000006.11:g.30657966del, NT_113891.3:g.2169933del, NT_113891.2:g.2170039del, NT_167248.2:g.1945303del, NT_167248.1:g.1950899del, NT_167245.2:g.1946043del, NT_167245.1:g.1951628del, NT_167246.2:g.2000442del, NT_167246.1:g.2006062del, NT_167247.2:g.2034266del, NT_167247.1:g.2039851del, NT_167244.2:g.2019696del, NT_167244.1:g.1969612del, NM_007243.3:c.188del, NM_007243.2:c.188del, XM_017010224.3:c.-50del, XM_017010224.2:c.-50del, XM_017010224.1:c.-50del, NR_073065.2:n.198del, NR_073065.1:n.343del, NM_001270707.2:c.188del, NM_001270707.1:c.188del, NM_001270708.2:c.188del, NM_001270708.1:c.188del, NM_001270709.2:c.188del, NM_001270709.1:c.188del, NR_073072.2:n.192del, NR_073072.1:n.186del, NM_001384369.1:c.188del, XM_047418138.1:c.-114del, NP_009174.1:p.Leu63fs, NP_001257636.1:p.Leu63fs, NP_001257637.1:p.Leu63fs, NP_001257638.1:p.Leu63fs, NP_001371298.1:p.Leu63fs

Select item 14884555353.

rs1488455535 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:30690864 (GRCh38)
6:30658641 (GRCh37)
Canonical SPDI:: NC_000006.12:30690863:C:T
Gene:: NRM (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.30690864C>T, NC_000006.11:g.30658641C>T, NT_113891.3:g.2170608C>T, NT_113891.2:g.2170714C>T, NT_167248.2:g.1945978C>T, NT_167248.1:g.1951574C>T, NT_167245.2:g.1946718C>T, NT_167245.1:g.1952303C>T, NT_167246.2:g.2001117C>T, NT_167246.1:g.2006737C>T, NT_167247.2:g.2034941C>T, NT_167247.1:g.2040526C>T, NT_167244.2:g.2020371C>T, NT_167244.1:g.1970287C>T, NM_007243.3:c.111G>A, NM_007243.2:c.111G>A, NR_073065.2:n.121G>A, NR_073065.1:n.266G>A, NM_001270709.2:c.111G>A, NM_001270709.1:c.111G>A, NM_001270708.2:c.111G>A, NM_001270708.1:c.111G>A, NR_073066.2:n.121G>A, NR_073066.1:n.266G>A, NM_001270710.2:c.111G>A, NM_001270710.1:c.111G>A, NM_001270707.2:c.111G>A, NM_001270707.1:c.111G>A, NM_001384369.1:c.111G>A

Select item 14858018094.

rs1485801809 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:30688918 (GRCh38)
6:30656695 (GRCh37)
Canonical SPDI:: NC_000006.12:30688917:C:G
Gene:: NRM (Varview), PPP1R18 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000006.12:g.30688918C>G, NC_000006.11:g.30656695C>G, NT_113891.3:g.2168662C>G, NT_113891.2:g.2168768C>G, NT_167248.2:g.1944032C>G, NT_167248.1:g.1949628C>G, NT_167245.2:g.1944772C>G, NT_167245.1:g.1950357C>G, NT_167246.2:g.1999171C>G, NT_167246.1:g.2004791C>G, NT_167247.2:g.2032995C>G, NT_167247.1:g.2038580C>G, NT_167244.2:g.2018425C>G, NT_167244.1:g.1968341C>G, NM_007243.3:c.532G>C, NM_007243.2:c.532G>C, XM_017010224.3:c.295G>C, XM_017010224.2:c.295G>C, XM_017010224.1:c.295G>C, NR_073065.2:n.564G>C, NR_073065.1:n.709G>C, NM_001270707.2:c.550G>C, NM_001270707.1:c.550G>C, NM_001270708.2:c.*41G>C, NM_001270708.1:c.*41G>C, NR_073066.2:n.345G>C, NR_073066.1:n.490G>C, NM_001270710.2:c.158G>C, NM_001270710.1:c.158G>C, NM_001270709.2:c.355G>C, NM_001270709.1:c.355G>C, NR_073072.2:n.359G>C, NR_073072.1:n.353G>C, XM_047418138.1:c.253G>C, NM_001384369.1:c.532G>C, NP_009174.1:p.Gly178Arg, XP_016865713.1:p.Gly99Arg, NP_001257636.1:p.Gly184Arg, NP_001257639.1:p.Gly53Ala, NP_001257638.1:p.Gly119Arg, XP_047274094.1:p.Gly85Arg, NP_001371298.1:p.Gly178Arg

Select item 14854096185.

rs1485409618 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:30690059 (GRCh38)
6:30657836 (GRCh37)
Canonical SPDI:: NC_000006.12:30690058:G:A
Gene:: NRM (Varview), PPP1R18 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30690059G>A, NC_000006.11:g.30657836G>A, NT_113891.3:g.2169803G>A, NT_113891.2:g.2169909G>A, NT_167248.2:g.1945173G>A, NT_167248.1:g.1950769G>A, NT_167245.2:g.1945913G>A, NT_167245.1:g.1951498G>A, NT_167246.2:g.2000312G>A, NT_167246.1:g.2005932G>A, NT_167247.2:g.2034136G>A, NT_167247.1:g.2039721G>A, NT_167244.2:g.2019566G>A, NT_167244.1:g.1969482G>A, NM_007243.3:c.318C>T, NM_007243.2:c.318C>T, XM_017010224.3:c.81C>T, XM_017010224.2:c.81C>T, XM_017010224.1:c.81C>T, NR_073065.2:n.328C>T, NR_073065.1:n.473C>T, NM_001270707.2:c.318C>T, NM_001270707.1:c.318C>T, NM_001270708.2:c.318C>T, NM_001270708.1:c.318C>T, NM_001270709.2:c.318C>T, NM_001270709.1:c.318C>T, NR_073072.2:n.322C>T, NR_073072.1:n.316C>T, NM_001384369.1:c.318C>T, XM_047418138.1:c.17C>T, XP_047274094.1:p.Pro6Leu

Select item 14746730796.

rs1474673079 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:30688870 (GRCh38)
6:30656647 (GRCh37)
Canonical SPDI:: NC_000006.12:30688869:G:A
Gene:: NRM (Varview), PPP1R18 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30688870G>A, NC_000006.11:g.30656647G>A, NT_113891.3:g.2168614G>A, NT_113891.2:g.2168720G>A, NT_167248.2:g.1943984G>A, NT_167248.1:g.1949580G>A, NT_167245.2:g.1944724G>A, NT_167245.1:g.1950309G>A, NT_167246.2:g.1999123G>A, NT_167246.1:g.2004743G>A, NT_167247.2:g.2032947G>A, NT_167247.1:g.2038532G>A, NT_167244.2:g.2018377G>A, NT_167244.1:g.1968293G>A, NM_007243.3:c.580C>T, NM_007243.2:c.580C>T, XM_017010224.3:c.343C>T, XM_017010224.2:c.343C>T, XM_017010224.1:c.343C>T, NR_073065.2:n.612C>T, NR_073065.1:n.757C>T, NM_001270707.2:c.598C>T, NM_001270707.1:c.598C>T, NM_001270708.2:c.*89C>T, NM_001270708.1:c.*89C>T, NR_073066.2:n.393C>T, NR_073066.1:n.538C>T, NM_001270710.2:c.206C>T, NM_001270710.1:c.206C>T, NM_001270709.2:c.403C>T, NM_001270709.1:c.403C>T, NR_073072.2:n.407C>T, NR_073072.1:n.401C>T, XM_047418138.1:c.301C>T, NM_001384369.1:c.580C>T, NP_009174.1:p.His194Tyr, XP_016865713.1:p.His115Tyr, NP_001257636.1:p.His200Tyr, NP_001257639.1:p.Pro69Leu, NP_001257638.1:p.His135Tyr, XP_047274094.1:p.His101Tyr, NP_001371298.1:p.His194Tyr

Select item 14412799847.

rs1441279984 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:30690884 (GRCh38)
6:30658661 (GRCh37)
Canonical SPDI:: NC_000006.12:30690883:G:C
Gene:: NRM (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.30690884G>C, NC_000006.11:g.30658661G>C, NT_113891.3:g.2170628G>C, NT_113891.2:g.2170734G>C, NT_167248.2:g.1945998G>C, NT_167248.1:g.1951594G>C, NT_167245.2:g.1946738G>C, NT_167245.1:g.1952323G>C, NT_167246.2:g.2001137G>C, NT_167246.1:g.2006757G>C, NT_167247.2:g.2034961G>C, NT_167247.1:g.2040546G>C, NT_167244.2:g.2020391G>C, NT_167244.1:g.1970307G>C, NM_007243.3:c.91C>G, NM_007243.2:c.91C>G, NR_073065.2:n.101C>G, NR_073065.1:n.246C>G, NM_001270707.2:c.91C>G, NM_001270707.1:c.91C>G, NM_001270708.2:c.91C>G, NM_001270708.1:c.91C>G, NM_001270709.2:c.91C>G, NM_001270709.1:c.91C>G, NR_073066.2:n.101C>G, NR_073066.1:n.246C>G, NM_001270710.2:c.91C>G, NM_001270710.1:c.91C>G, NM_001384369.1:c.91C>G, NP_009174.1:p.Leu31Val, NP_001257636.1:p.Leu31Val, NP_001257637.1:p.Leu31Val, NP_001257638.1:p.Leu31Val, NP_001257639.1:p.Leu31Val, NP_001371298.1:p.Leu31Val

Select item 14400717318.

rs1440071731 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:30688735 (GRCh38)
6:30656512 (GRCh37)
Canonical SPDI:: NC_000006.12:30688734:G:A
Gene:: NRM (Varview), PPP1R18 (Varview)
Functional Consequence:: 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30688735G>A, NC_000006.11:g.30656512G>A, NT_113891.3:g.2168479G>A, NT_113891.2:g.2168585G>A, NT_167248.2:g.1943849G>A, NT_167248.1:g.1949445G>A, NT_167245.2:g.1944589G>A, NT_167245.1:g.1950174G>A, NT_167246.2:g.1998988G>A, NT_167246.1:g.2004608G>A, NT_167247.2:g.2032812G>A, NT_167247.1:g.2038397G>A, NT_167244.2:g.2018242G>A, NT_167244.1:g.1968158G>A, NM_007243.3:c.715C>T, NM_007243.2:c.715C>T, XM_017010224.3:c.478C>T, XM_017010224.2:c.478C>T, XM_017010224.1:c.478C>T, NR_073065.2:n.747C>T, NR_073065.1:n.892C>T, NM_001270707.2:c.733C>T, NM_001270707.1:c.733C>T, NM_001270708.2:c.*224C>T, NM_001270708.1:c.*224C>T, NR_073066.2:n.528C>T, NR_073066.1:n.673C>T, NM_001270710.2:c.*11C>T, NM_001270710.1:c.*11C>T, NM_001270709.2:c.538C>T, NM_001270709.1:c.538C>T, NR_073072.2:n.542C>T, NR_073072.1:n.536C>T, NM_001384369.1:c.715C>T, XM_047418138.1:c.436C>T, NP_009174.1:p.Leu239Phe, XP_016865713.1:p.Leu160Phe, NP_001257636.1:p.Leu245Phe, NP_001257638.1:p.Leu180Phe, NP_001371298.1:p.Leu239Phe, XP_047274094.1:p.Leu146Phe

Select item 14386542989.

rs1438654298 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 6:30690229 (GRCh38)
6:30658006 (GRCh37)
Canonical SPDI:: NC_000006.12:30690228:A:G,NC_000006.12:30690228:A:T
Gene:: NRM (Varview), PPP1R18 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.00001/2 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.30690229A>G, NC_000006.12:g.30690229A>T, NC_000006.11:g.30658006A>G, NC_000006.11:g.30658006A>T, NT_113891.3:g.2169973A>G, NT_113891.3:g.2169973A>T, NT_113891.2:g.2170079A>G, NT_113891.2:g.2170079A>T, NT_167248.2:g.1945343A>G, NT_167248.2:g.1945343A>T, NT_167248.1:g.1950939A>G, NT_167248.1:g.1950939A>T, NT_167245.2:g.1946083A>G, NT_167245.2:g.1946083A>T, NT_167245.1:g.1951668A>G, NT_167245.1:g.1951668A>T, NT_167246.2:g.2000482A>G, NT_167246.2:g.2000482A>T, NT_167246.1:g.2006102A>G, NT_167246.1:g.2006102A>T, NT_167247.2:g.2034306A>G, NT_167247.2:g.2034306A>T, NT_167247.1:g.2039891A>G, NT_167247.1:g.2039891A>T, NT_167244.2:g.2019736A>G, NT_167244.2:g.2019736A>T, NT_167244.1:g.1969652A>G, NT_167244.1:g.1969652A>T, NM_007243.3:c.148T>C, NM_007243.3:c.148T>A, NM_007243.2:c.148T>C, NM_007243.2:c.148T>A, XM_017010224.3:c.-90T>C, XM_017010224.3:c.-90T>A, XM_017010224.2:c.-90T>C, XM_017010224.2:c.-90T>A, XM_017010224.1:c.-90T>C, XM_017010224.1:c.-90T>A, NR_073065.2:n.158T>C, NR_073065.2:n.158T>A, NR_073065.1:n.303T>C, NR_073065.1:n.303T>A, NM_001270707.2:c.148T>C, NM_001270707.2:c.148T>A, NM_001270707.1:c.148T>C, NM_001270707.1:c.148T>A, NM_001270708.2:c.148T>C, NM_001270708.2:c.148T>A, NM_001270708.1:c.148T>C, NM_001270708.1:c.148T>A, NM_001270709.2:c.148T>C, NM_001270709.2:c.148T>A, NM_001270709.1:c.148T>C, NM_001270709.1:c.148T>A, NR_073072.2:n.152T>C, NR_073072.2:n.152T>A, NR_073072.1:n.146T>C, NR_073072.1:n.146T>A, NM_001384369.1:c.148T>C, NM_001384369.1:c.148T>A, XM_047418138.1:c.-154T>C, XM_047418138.1:c.-154T>A, NP_009174.1:p.Trp50Arg, NP_009174.1:p.Trp50Arg, NP_001257636.1:p.Trp50Arg, NP_001257636.1:p.Trp50Arg, NP_001257637.1:p.Trp50Arg, NP_001257637.1:p.Trp50Arg, NP_001257638.1:p.Trp50Arg, NP_001257638.1:p.Trp50Arg, NP_001371298.1:p.Trp50Arg, NP_001371298.1:p.Trp50Arg

Select item 143664823410.

rs1436648234 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 6:30688830 (GRCh38)
6:30656607 (GRCh37)
Canonical SPDI:: NC_000006.12:30688829:A:
Gene:: NRM (Varview), PPP1R18 (Varview)
Functional Consequence:: 3_prime_UTR_variant,upstream_transcript_variant,frameshift_variant,2KB_upstream_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000006.12:g.30688830del, NC_000006.11:g.30656607del, NT_113891.3:g.2168574del, NT_113891.2:g.2168680del, NT_167248.2:g.1943944del, NT_167248.1:g.1949540del, NT_167245.2:g.1944684del, NT_167245.1:g.1950269del, NT_167246.2:g.1999083del, NT_167246.1:g.2004703del, NT_167247.2:g.2032907del, NT_167247.1:g.2038492del, NT_167244.2:g.2018337del, NT_167244.1:g.1968253del, NM_007243.3:c.620del, NM_007243.2:c.620del, XM_017010224.3:c.383del, XM_017010224.2:c.383del, XM_017010224.1:c.383del, NR_073065.2:n.652del, NR_073065.1:n.797del, NM_001270707.2:c.638del, NM_001270707.1:c.638del, NM_001270708.2:c.*129del, NM_001270708.1:c.*129del, NR_073066.2:n.433del, NR_073066.1:n.578del, NM_001270710.2:c.246del, NM_001270710.1:c.246del, NM_001270709.2:c.443del, NM_001270709.1:c.443del, NR_073072.2:n.447del, NR_073072.1:n.441del, NM_001384369.1:c.620del, XM_047418138.1:c.341del, NP_009174.1:p.Leu207fs, XP_016865713.1:p.Leu128fs, NP_001257636.1:p.Leu213fs, NP_001257639.1:p.Val83fs, NP_001257638.1:p.Leu148fs, NP_001371298.1:p.Leu207fs, XP_047274094.1:p.Leu114fs

Select item 142900321611.

rs1429003216 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:30688843 (GRCh38)
6:30656620 (GRCh37)
Canonical SPDI:: NC_000006.12:30688842:G:A
Gene:: NRM (Varview), PPP1R18 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,3_prime_UTR_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.30688843G>A, NC_000006.11:g.30656620G>A, NT_113891.3:g.2168587G>A, NT_113891.2:g.2168693G>A, NT_167248.2:g.1943957G>A, NT_167248.1:g.1949553G>A, NT_167245.2:g.1944697G>A, NT_167245.1:g.1950282G>A, NT_167246.2:g.1999096G>A, NT_167246.1:g.2004716G>A, NT_167247.2:g.2032920G>A, NT_167247.1:g.2038505G>A, NT_167244.2:g.2018350G>A, NT_167244.1:g.1968266G>A, NM_007243.3:c.607C>T, NM_007243.2:c.607C>T, XM_017010224.3:c.370C>T, XM_017010224.2:c.370C>T, XM_017010224.1:c.370C>T, NR_073065.2:n.639C>T, NR_073065.1:n.784C>T, NM_001270707.2:c.625C>T, NM_001270707.1:c.625C>T, NM_001270708.2:c.*116C>T, NM_001270708.1:c.*116C>T, NR_073066.2:n.420C>T, NR_073066.1:n.565C>T, NM_001270710.2:c.233C>T, NM_001270710.1:c.233C>T, NM_001270709.2:c.430C>T, NM_001270709.1:c.430C>T, NR_073072.2:n.434C>T, NR_073072.1:n.428C>T, NM_001384369.1:c.607C>T, XM_047418138.1:c.328C>T, NP_001257639.1:p.Ala78Val

Select item 140455881612.

rs1404558816 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:30688901 (GRCh38)
6:30656678 (GRCh37)
Canonical SPDI:: NC_000006.12:30688900:C:A
Gene:: NRM (Varview), PPP1R18 (Varview)
Functional Consequence:: stop_gained,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant,coding_sequence_variant
HGVS:: NC_000006.12:g.30688901C>A, NC_000006.11:g.30656678C>A, NT_113891.3:g.2168645C>A, NT_113891.2:g.2168751C>A, NT_167248.2:g.1944015C>A, NT_167248.1:g.1949611C>A, NT_167245.2:g.1944755C>A, NT_167245.1:g.1950340C>A, NT_167246.2:g.1999154C>A, NT_167246.1:g.2004774C>A, NT_167247.2:g.2032978C>A, NT_167247.1:g.2038563C>A, NT_167244.2:g.2018408C>A, NT_167244.1:g.1968324C>A, NM_007243.3:c.549G>T, NM_007243.2:c.549G>T, XM_017010224.3:c.312G>T, XM_017010224.2:c.312G>T, XM_017010224.1:c.312G>T, NR_073065.2:n.581G>T, NR_073065.1:n.726G>T, NM_001270707.2:c.567G>T, NM_001270707.1:c.567G>T, NM_001270708.2:c.*58G>T, NM_001270708.1:c.*58G>T, NR_073066.2:n.362G>T, NR_073066.1:n.507G>T, NM_001270710.2:c.175G>T, NM_001270710.1:c.175G>T, NM_001270709.2:c.372G>T, NM_001270709.1:c.372G>T, NR_073072.2:n.376G>T, NR_073072.1:n.370G>T, NM_001384369.1:c.549G>T, XM_047418138.1:c.270G>T, NP_001257639.1:p.Glu59Ter

Select item 138049027213.

rs1380490272 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:30688714 (GRCh38)
6:30656491 (GRCh37)
Canonical SPDI:: NC_000006.12:30688713:G:C
Gene:: NRM (Varview), PPP1R18 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30688714G>C, NC_000006.11:g.30656491G>C, NT_113891.3:g.2168458G>C, NT_113891.2:g.2168564G>C, NT_167248.2:g.1943828G>C, NT_167248.1:g.1949424G>C, NT_167245.2:g.1944568G>C, NT_167245.1:g.1950153G>C, NT_167246.2:g.1998967G>C, NT_167246.1:g.2004587G>C, NT_167247.2:g.2032791G>C, NT_167247.1:g.2038376G>C, NT_167244.2:g.2018221G>C, NT_167244.1:g.1968137G>C, NM_007243.3:c.736C>G, NM_007243.2:c.736C>G, XM_017010224.3:c.499C>G, XM_017010224.2:c.499C>G, XM_017010224.1:c.499C>G, NR_073065.2:n.768C>G, NR_073065.1:n.913C>G, NM_001270707.2:c.754C>G, NM_001270707.1:c.754C>G, NM_001270708.2:c.*245C>G, NM_001270708.1:c.*245C>G, NR_073066.2:n.549C>G, NR_073066.1:n.694C>G, NM_001270710.2:c.*32C>G, NM_001270710.1:c.*32C>G, NM_001270709.2:c.559C>G, NM_001270709.1:c.559C>G, NR_073072.2:n.563C>G, NR_073072.1:n.557C>G, NM_001384369.1:c.736C>G, XM_047418138.1:c.457C>G, NP_009174.1:p.Leu246Val, XP_016865713.1:p.Leu167Val, NP_001257636.1:p.Leu252Val, NP_001257638.1:p.Leu187Val, NP_001371298.1:p.Leu246Val, XP_047274094.1:p.Leu153Val

Select item 136777226114.

rs1367772261 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:30690894 (GRCh38)
6:30658671 (GRCh37)
Canonical SPDI:: NC_000006.12:30690893:G:A
Gene:: NRM (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30690894G>A, NC_000006.11:g.30658671G>A, NT_113891.3:g.2170638G>A, NT_113891.2:g.2170744G>A, NT_167248.2:g.1946008G>A, NT_167248.1:g.1951604G>A, NT_167245.2:g.1946748G>A, NT_167245.1:g.1952333G>A, NT_167246.2:g.2001147G>A, NT_167246.1:g.2006767G>A, NT_167247.2:g.2034971G>A, NT_167247.1:g.2040556G>A, NT_167244.2:g.2020401G>A, NT_167244.1:g.1970317G>A, NM_007243.3:c.81C>T, NM_007243.2:c.81C>T, NR_073065.2:n.91C>T, NR_073065.1:n.236C>T, NM_001270707.2:c.81C>T, NM_001270707.1:c.81C>T, NM_001270708.2:c.81C>T, NM_001270708.1:c.81C>T, NM_001270709.2:c.81C>T, NM_001270709.1:c.81C>T, NR_073066.2:n.91C>T, NR_073066.1:n.236C>T, NM_001270710.2:c.81C>T, NM_001270710.1:c.81C>T, NM_001384369.1:c.81C>T

Select item 136556705215.

rs1365567052 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:30690127 (GRCh38)
6:30657904 (GRCh37)
Canonical SPDI:: NC_000006.12:30690126:T:C
Gene:: NRM (Varview), PPP1R18 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.30690127T>C, NC_000006.11:g.30657904T>C, NT_113891.3:g.2169871T>C, NT_113891.2:g.2169977T>C, NT_167248.2:g.1945241T>C, NT_167248.1:g.1950837T>C, NT_167245.2:g.1945981T>C, NT_167245.1:g.1951566T>C, NT_167246.2:g.2000380T>C, NT_167246.1:g.2006000T>C, NT_167247.2:g.2034204T>C, NT_167247.1:g.2039789T>C, NT_167244.2:g.2019634T>C, NT_167244.1:g.1969550T>C, NM_007243.3:c.250A>G, NM_007243.2:c.250A>G, XM_017010224.3:c.13A>G, XM_017010224.2:c.13A>G, XM_017010224.1:c.13A>G, NR_073065.2:n.260A>G, NR_073065.1:n.405A>G, NM_001270707.2:c.250A>G, NM_001270707.1:c.250A>G, NM_001270708.2:c.250A>G, NM_001270708.1:c.250A>G, NM_001270709.2:c.250A>G, NM_001270709.1:c.250A>G, NR_073072.2:n.254A>G, NR_073072.1:n.248A>G, XM_047418138.1:c.-52A>G, NM_001384369.1:c.250A>G, NP_009174.1:p.Arg84Gly, XP_016865713.1:p.Arg5Gly, NP_001257636.1:p.Arg84Gly, NP_001257637.1:p.Arg84Gly, NP_001257638.1:p.Arg84Gly, NP_001371298.1:p.Arg84Gly

Select item 136491065716.

rs1364910657 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:30690098 (GRCh38)
6:30657875 (GRCh37)
Canonical SPDI:: NC_000006.12:30690097:A:C
Gene:: NRM (Varview), PPP1R18 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.30690098A>C, NC_000006.11:g.30657875A>C, NT_113891.3:g.2169842A>C, NT_113891.2:g.2169948A>C, NT_167248.2:g.1945212A>C, NT_167248.1:g.1950808A>C, NT_167245.2:g.1945952A>C, NT_167245.1:g.1951537A>C, NT_167246.2:g.2000351A>C, NT_167246.1:g.2005971A>C, NT_167247.2:g.2034175A>C, NT_167247.1:g.2039760A>C, NT_167244.2:g.2019605A>C, NT_167244.1:g.1969521A>C, NM_007243.3:c.279T>G, NM_007243.2:c.279T>G, XM_017010224.3:c.42T>G, XM_017010224.2:c.42T>G, XM_017010224.1:c.42T>G, NR_073065.2:n.289T>G, NR_073065.1:n.434T>G, NM_001270707.2:c.279T>G, NM_001270707.1:c.279T>G, NM_001270708.2:c.279T>G, NM_001270708.1:c.279T>G, NM_001270709.2:c.279T>G, NM_001270709.1:c.279T>G, NR_073072.2:n.283T>G, NR_073072.1:n.277T>G, XM_047418138.1:c.-23T>G, NM_001384369.1:c.279T>G, NP_009174.1:p.Phe93Leu, XP_016865713.1:p.Phe14Leu, NP_001257636.1:p.Phe93Leu, NP_001257637.1:p.Phe93Leu, NP_001257638.1:p.Phe93Leu, NP_001371298.1:p.Phe93Leu

Select item 135473598717.

rs1354735987 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:30688676 (GRCh38)
6:30656453 (GRCh37)
Canonical SPDI:: NC_000006.12:30688675:A:G
Gene:: NRM (Varview), PPP1R18 (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30688676A>G, NC_000006.11:g.30656453A>G, NT_113891.3:g.2168420A>G, NT_113891.2:g.2168526A>G, NT_167248.2:g.1943790A>G, NT_167248.1:g.1949386A>G, NT_167245.2:g.1944530A>G, NT_167245.1:g.1950115A>G, NT_167246.2:g.1998929A>G, NT_167246.1:g.2004549A>G, NT_167247.2:g.2032753A>G, NT_167247.1:g.2038338A>G, NT_167244.2:g.2018183A>G, NT_167244.1:g.1968099A>G, NM_007243.3:c.774T>C, NM_007243.2:c.774T>C, XM_017010224.3:c.537T>C, XM_017010224.2:c.537T>C, XM_017010224.1:c.537T>C, NR_073065.2:n.806T>C, NR_073065.1:n.951T>C, NM_001270707.2:c.792T>C, NM_001270707.1:c.792T>C, NM_001270708.2:c.*283T>C, NM_001270708.1:c.*283T>C, NR_073066.2:n.587T>C, NR_073066.1:n.732T>C, NM_001270710.2:c.*70T>C, NM_001270710.1:c.*70T>C, NM_001270709.2:c.597T>C, NM_001270709.1:c.597T>C, NR_073072.2:n.601T>C, NR_073072.1:n.595T>C, NM_001384369.1:c.774T>C, XM_047418138.1:c.495T>C

Select item 135193656718.

rs1351936567 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:30690859 (GRCh38)
6:30658636 (GRCh37)
Canonical SPDI:: NC_000006.12:30690858:G:A
Gene:: NRM (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30690859G>A, NC_000006.11:g.30658636G>A, NT_113891.3:g.2170603G>A, NT_113891.2:g.2170709G>A, NT_167248.2:g.1945973G>A, NT_167248.1:g.1951569G>A, NT_167245.2:g.1946713G>A, NT_167245.1:g.1952298G>A, NT_167246.2:g.2001112G>A, NT_167246.1:g.2006732G>A, NT_167247.2:g.2034936G>A, NT_167247.1:g.2040521G>A, NT_167244.2:g.2020366G>A, NT_167244.1:g.1970282G>A, NM_007243.3:c.116C>T, NM_007243.2:c.116C>T, NR_073065.2:n.126C>T, NR_073065.1:n.271C>T, NM_001270709.2:c.116C>T, NM_001270709.1:c.116C>T, NM_001270708.2:c.116C>T, NM_001270708.1:c.116C>T, NR_073066.2:n.126C>T, NR_073066.1:n.271C>T, NM_001270710.2:c.116C>T, NM_001270710.1:c.116C>T, NM_001270707.2:c.116C>T, NM_001270707.1:c.116C>T, NM_001384369.1:c.116C>T, NP_009174.1:p.Pro39Leu, NP_001257638.1:p.Pro39Leu, NP_001257637.1:p.Pro39Leu, NP_001257639.1:p.Pro39Leu, NP_001257636.1:p.Pro39Leu, NP_001371298.1:p.Pro39Leu

Select item 134681563419.

rs1346815634 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:30688855 (GRCh38)
6:30656632 (GRCh37)
Canonical SPDI:: NC_000006.12:30688854:C:G
Gene:: NRM (Varview), PPP1R18 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,2KB_upstream_variant,non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.30688855C>G, NC_000006.11:g.30656632C>G, NT_113891.3:g.2168599C>G, NT_113891.2:g.2168705C>G, NT_167248.2:g.1943969C>G, NT_167248.1:g.1949565C>G, NT_167245.2:g.1944709C>G, NT_167245.1:g.1950294C>G, NT_167246.2:g.1999108C>G, NT_167246.1:g.2004728C>G, NT_167247.2:g.2032932C>G, NT_167247.1:g.2038517C>G, NT_167244.2:g.2018362C>G, NT_167244.1:g.1968278C>G, NM_007243.3:c.595G>C, NM_007243.2:c.595G>C, XM_017010224.3:c.358G>C, XM_017010224.2:c.358G>C, XM_017010224.1:c.358G>C, NR_073065.2:n.627G>C, NR_073065.1:n.772G>C, NM_001270707.2:c.613G>C, NM_001270707.1:c.613G>C, NM_001270708.2:c.*104G>C, NM_001270708.1:c.*104G>C, NR_073066.2:n.408G>C, NR_073066.1:n.553G>C, NM_001270710.2:c.221G>C, NM_001270710.1:c.221G>C, NM_001270709.2:c.418G>C, NM_001270709.1:c.418G>C, NR_073072.2:n.422G>C, NR_073072.1:n.416G>C, XM_047418138.1:c.316G>C, NM_001384369.1:c.595G>C, NP_009174.1:p.Val199Leu, XP_016865713.1:p.Val120Leu, NP_001257636.1:p.Val205Leu, NP_001257639.1:p.Ser74Thr, NP_001257638.1:p.Val140Leu, XP_047274094.1:p.Val106Leu, NP_001371298.1:p.Val199Leu

Select item 134428533420.

rs1344285334 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 6:30690083 (GRCh38)
6:30657860 (GRCh37)
Canonical SPDI:: NC_000006.12:30690082:CC:C
Gene:: NRM (Varview), PPP1R18 (Varview)
Functional Consequence:: intron_variant,frameshift_variant,2KB_upstream_variant,non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30690084del, NC_000006.11:g.30657861del, NT_113891.3:g.2169828del, NT_113891.2:g.2169934del, NT_167248.2:g.1945198del, NT_167248.1:g.1950794del, NT_167245.2:g.1945938del, NT_167245.1:g.1951523del, NT_167246.2:g.2000337del, NT_167246.1:g.2005957del, NT_167247.2:g.2034161del, NT_167247.1:g.2039746del, NT_167244.2:g.2019591del, NT_167244.1:g.1969507del, NM_007243.3:c.294del, NM_007243.2:c.294del, XM_017010224.3:c.57del, XM_017010224.2:c.57del, XM_017010224.1:c.57del, NR_073065.2:n.304del, NR_073065.1:n.449del, NM_001270707.2:c.294del, NM_001270707.1:c.294del, NM_001270708.2:c.294del, NM_001270708.1:c.294del, NM_001270709.2:c.294del, NM_001270709.1:c.294del, NR_073072.2:n.298del, NR_073072.1:n.292del, NM_001384369.1:c.294del, XM_047418138.1:c.-8del, NP_009174.1:p.Arg98fs, XP_016865713.1:p.Arg19fs, NP_001257636.1:p.Arg98fs, NP_001257637.1:p.Arg98fs, NP_001257638.1:p.Arg98fs, NP_001371298.1:p.Arg98fs

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