SNP Links for Gene (Select 60672) - SNP

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Select item 14914601801.

rs1491460180 has merged into rs71568383 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:12030566 (GRCh38)
1:12090623 (GRCh37)
Canonical SPDI:: NC_000001.11:12030556:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:12030556:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:12030556:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:12030556:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:12030556:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:12030556:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:12030556:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:12030556:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:12030556:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:12030556:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:12030556:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:12030556:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:12030556:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:12030556:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:12030556:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:12030556:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:12030556:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:12030556:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:12030556:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:12030556:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:12030556:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MIIP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
T=0.0056/28 (1000Genomes)
HGVS:: NC_000001.11:g.12030566_12030579del, NC_000001.11:g.12030567_12030579del, NC_000001.11:g.12030569_12030579del, NC_000001.11:g.12030570_12030579del, NC_000001.11:g.12030571_12030579del, NC_000001.11:g.12030572_12030579del, NC_000001.11:g.12030573_12030579del, NC_000001.11:g.12030574_12030579del, NC_000001.11:g.12030576_12030579del, NC_000001.11:g.12030577_12030579del, NC_000001.11:g.12030578_12030579del, NC_000001.11:g.12030579del, NC_000001.11:g.12030579dup, NC_000001.11:g.12030578_12030579dup, NC_000001.11:g.12030577_12030579dup, NC_000001.11:g.12030576_12030579dup, NC_000001.11:g.12030575_12030579dup, NC_000001.11:g.12030574_12030579dup, NC_000001.11:g.12030573_12030579dup, NC_000001.11:g.12030572_12030579dup, NC_000001.11:g.12030579_12030580insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.12090623_12090636del, NC_000001.10:g.12090624_12090636del, NC_000001.10:g.12090626_12090636del, NC_000001.10:g.12090627_12090636del, NC_000001.10:g.12090628_12090636del, NC_000001.10:g.12090629_12090636del, NC_000001.10:g.12090630_12090636del, NC_000001.10:g.12090631_12090636del, NC_000001.10:g.12090633_12090636del, NC_000001.10:g.12090634_12090636del, NC_000001.10:g.12090635_12090636del, NC_000001.10:g.12090636del, NC_000001.10:g.12090636dup, NC_000001.10:g.12090635_12090636dup, NC_000001.10:g.12090634_12090636dup, NC_000001.10:g.12090633_12090636dup, NC_000001.10:g.12090632_12090636dup, NC_000001.10:g.12090631_12090636dup, NC_000001.10:g.12090630_12090636dup, NC_000001.10:g.12090629_12090636dup, NC_000001.10:g.12090636_12090637insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_030022.2:g.16325_16338del, NG_030022.2:g.16326_16338del, NG_030022.2:g.16328_16338del, NG_030022.2:g.16329_16338del, NG_030022.2:g.16330_16338del, NG_030022.2:g.16331_16338del, NG_030022.2:g.16332_16338del, NG_030022.2:g.16333_16338del, NG_030022.2:g.16335_16338del, NG_030022.2:g.16336_16338del, NG_030022.2:g.16337_16338del, NG_030022.2:g.16338del, NG_030022.2:g.16338dup, NG_030022.2:g.16337_16338dup, NG_030022.2:g.16336_16338dup, NG_030022.2:g.16335_16338dup, NG_030022.2:g.16334_16338dup, NG_030022.2:g.16333_16338dup, NG_030022.2:g.16332_16338dup, NG_030022.2:g.16331_16338dup, NG_030022.2:g.16338_16339insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14912749642.

rs1491274964 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,GC [Show Flanks]
Chromosome:: 1:12030557 (GRCh38)
1:12090615 (GRCh37)
Canonical SPDI:: NC_000001.11:12030557::A,NC_000001.11:12030557::GC
Gene:: MIIP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GC=0./0 (ALFA)
A=0.0001/2 (GnomAD)
HGVS:: NC_000001.11:g.12030557_12030558insA, NC_000001.11:g.12030557_12030558insGC, NC_000001.10:g.12090614_12090615insA, NC_000001.10:g.12090614_12090615insGC, NG_030022.2:g.16316_16317insA, NG_030022.2:g.16316_16317insGC

Select item 14912011693.

rs1491201169 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:12030555 (GRCh38)
1:12090613 (GRCh37)
Canonical SPDI:: NC_000001.11:12030555:C:CC
Gene:: MIIP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.12030556dup, NC_000001.10:g.12090613dup, NG_030022.2:g.16315dup

Select item 14911514504.

rs1491151450 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 1:12030555 (GRCh38)
1:12090612 (GRCh37)
Canonical SPDI:: NC_000001.11:12030554:GC:
Gene:: MIIP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000079/8 (GnomAD)
HGVS:: NC_000001.11:g.12030555_12030556del, NC_000001.10:g.12090612_12090613del, NG_030022.2:g.16314_16315del

Select item 14910534475.

rs1491053447 has merged into rs34554829 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:12017937 (GRCh38)
1:12077994 (GRCh37)
Canonical SPDI:: NC_000001.11:12017925:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:12017925:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:12017925:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:12017925:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:12017925:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:12017925:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:12017925:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MIIP (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.2152/798 (TWINSUK)
-=0.2159/832 (ALSPAC)
-=0.3293/1649 (1000Genomes)
HGVS:: NC_000001.11:g.12017937_12017939del, NC_000001.11:g.12017938_12017939del, NC_000001.11:g.12017939del, NC_000001.11:g.12017939dup, NC_000001.11:g.12017938_12017939dup, NC_000001.11:g.12017937_12017939dup, NC_000001.11:g.12017939_12017940insTTTTTTTTTTTTTTTTT, NC_000001.10:g.12077994_12077996del, NC_000001.10:g.12077995_12077996del, NC_000001.10:g.12077996del, NC_000001.10:g.12077996dup, NC_000001.10:g.12077995_12077996dup, NC_000001.10:g.12077994_12077996dup, NC_000001.10:g.12077996_12077997insTTTTTTTTTTTTTTTTT, NG_030022.2:g.3696_3698del, NG_030022.2:g.3697_3698del, NG_030022.2:g.3698del, NG_030022.2:g.3698dup, NG_030022.2:g.3697_3698dup, NG_030022.2:g.3696_3698dup, NG_030022.2:g.3698_3699insTTTTTTTTTTTTTTTTT

Select item 14909618606.

rs1490961860 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:12020844 (GRCh38)
1:12080901 (GRCh37)
Canonical SPDI:: NC_000001.11:12020843:C:T
Gene:: MIIP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.12020844C>T, NC_000001.10:g.12080901C>T, NG_030022.2:g.6603C>T

Select item 14904715387.

rs1490471538 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:12019831 (GRCh38)
1:12079888 (GRCh37)
Canonical SPDI:: NC_000001.11:12019830:C:T
Gene:: MIIP (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.12019831C>T, NC_000001.10:g.12079888C>T, NG_030022.2:g.5590C>T, XM_011541895.2:c.-226C>T

Select item 14904466478.

rs1490446647 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:12018217 (GRCh38)
1:12078274 (GRCh37)
Canonical SPDI:: NC_000001.11:12018216:C:T
Gene:: MIIP (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.12018217C>T, NC_000001.10:g.12078274C>T, NG_030022.2:g.3976C>T

Select item 14900504569.

rs1490050456 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:12031966 (GRCh38)
1:12092023 (GRCh37)
Canonical SPDI:: NC_000001.11:12031965:C:G,NC_000001.11:12031965:C:T
Gene:: MIIP (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000026/7 (TOPMED)
HGVS:: NC_000001.11:g.12031966C>G, NC_000001.11:g.12031966C>T, NC_000001.10:g.12092023C>G, NC_000001.10:g.12092023C>T, NG_030022.2:g.17725C>G, NG_030022.2:g.17725C>T, NM_021933.4:c.*158C>G, NM_021933.4:c.*158C>T, NM_021933.3:c.*158C>G, NM_021933.3:c.*158C>T, XM_005263487.5:c.*405C>G, XM_005263487.5:c.*405C>T, XM_005263487.4:c.*405C>G, XM_005263487.4:c.*405C>T, XM_011541895.2:c.*158C>G, XM_011541895.2:c.*158C>T, XM_011541895.1:c.*158C>G, XM_011541895.1:c.*158C>T, XM_011541896.2:c.*158C>G, XM_011541896.2:c.*158C>T, XM_011541896.1:c.*158C>G, XM_011541896.1:c.*158C>T, NM_001025374.1:c.*974C>G, NM_001025374.1:c.*974C>T

Select item 149000789610.

rs1490007896 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:12017536 (GRCh38)
1:12077593 (GRCh37)
Canonical SPDI:: NC_000001.11:12017535:G:A,NC_000001.11:12017535:G:C
Gene:: MIIP (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000086/12 (GnomAD)
HGVS:: NC_000001.11:g.12017536G>A, NC_000001.11:g.12017536G>C, NC_000001.10:g.12077593G>A, NC_000001.10:g.12077593G>C, NG_030022.2:g.3295G>A, NG_030022.2:g.3295G>C

Select item 148997183611.

rs1489971836 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:12027094 (GRCh38)
1:12087151 (GRCh37)
Canonical SPDI:: NC_000001.11:12027093:C:T
Gene:: MIIP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000546/1 (Korea1K)
HGVS:: NC_000001.11:g.12027094C>T, NC_000001.10:g.12087151C>T, NG_030022.2:g.12853C>T

Select item 148968567812.

rs1489685678 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 1:12019990 (GRCh38)
1:12080047 (GRCh37)
Canonical SPDI:: NC_000001.11:12019989:GGGGG:GGGG
Gene:: MIIP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.12019994del, NC_000001.10:g.12080051del, NG_030022.2:g.5753del

Select item 148964304813.

rs1489643048 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:12022179 (GRCh38)
1:12082236 (GRCh37)
Canonical SPDI:: NC_000001.11:12022178:C:T
Gene:: MIIP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.12022179C>T, NC_000001.10:g.12082236C>T, NG_030022.2:g.7938C>T, NM_021933.4:c.199C>T, NM_021933.3:c.199C>T, XM_005263487.5:c.199C>T, XM_005263487.4:c.199C>T, XM_005263487.3:c.199C>T, XM_005263487.2:c.199C>T, XM_005263487.1:c.199C>T, XM_011541895.2:c.199C>T, XM_011541895.1:c.199C>T, XM_011541896.2:c.199C>T, XM_011541896.1:c.199C>T, NM_001025374.1:c.199C>T, NP_068752.2:p.Pro67Ser, XP_005263544.1:p.Pro67Ser, XP_011540197.1:p.Pro67Ser, XP_011540198.1:p.Pro67Ser

Select item 148956572214.

rs1489565722 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:12031113 (GRCh38)
1:12091170 (GRCh37)
Canonical SPDI:: NC_000001.11:12031112:G:T
Gene:: MIIP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.12031113G>T, NC_000001.10:g.12091170G>T, NG_030022.2:g.16872G>T

Select item 148931879415.

rs1489318794 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:12024474 (GRCh38)
1:12084531 (GRCh37)
Canonical SPDI:: NC_000001.11:12024473:C:T
Gene:: MIIP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.12024474C>T, NC_000001.10:g.12084531C>T, NG_030022.2:g.10233C>T

Select item 148931285616.

rs1489312856 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:12028186 (GRCh38)
1:12088243 (GRCh37)
Canonical SPDI:: NC_000001.11:12028185:A:G
Gene:: MIIP (Varview), MIR6729 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.12028186A>G, NC_000001.10:g.12088243A>G, NG_030022.2:g.13945A>G

Select item 148908675017.

rs1489086750 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:12021660 (GRCh38)
1:12081717 (GRCh37)
Canonical SPDI:: NC_000001.11:12021659:C:G
Gene:: MIIP (Varview)
Functional Consequence:: 5_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_000001.11:g.12021660C>G, NC_000001.10:g.12081717C>G, NG_030022.2:g.7419C>G, NM_021933.4:c.-67C>G, NM_021933.3:c.-67C>G, XM_005263487.5:c.-67C>G, XM_005263487.4:c.-67C>G, XM_005263487.3:c.-67C>G, XM_005263487.2:c.-67C>G, XM_005263487.1:c.-67C>G, XM_011541895.2:c.-67C>G, XM_011541895.1:c.-67C>G, XM_011541896.2:c.-67C>G, XM_011541896.1:c.-67C>G, NM_001025374.1:c.-67C>G

Select item 148896605518.

rs1488966055 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 1:12030789 (GRCh38)
1:12090846 (GRCh37)
Canonical SPDI:: NC_000001.11:12030788:T:A,NC_000001.11:12030788:T:C,NC_000001.11:12030788:T:G
Gene:: MIIP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00006/1 (TOMMO)
G=0.016427/48 (KOREAN)
HGVS:: NC_000001.11:g.12030789T>A, NC_000001.11:g.12030789T>C, NC_000001.11:g.12030789T>G, NC_000001.10:g.12090846T>A, NC_000001.10:g.12090846T>C, NC_000001.10:g.12090846T>G, NG_030022.2:g.16548T>A, NG_030022.2:g.16548T>C, NG_030022.2:g.16548T>G

Select item 148871232519.

rs1488712325 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:12021696 (GRCh38)
1:12081753 (GRCh37)
Canonical SPDI:: NC_000001.11:12021695:G:A
Gene:: MIIP (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.12021696G>A, NC_000001.10:g.12081753G>A, NG_030022.2:g.7455G>A, NM_021933.4:c.-31G>A, NM_021933.3:c.-31G>A, XM_005263487.5:c.-31G>A, XM_005263487.4:c.-31G>A, XM_005263487.3:c.-31G>A, XM_005263487.2:c.-31G>A, XM_005263487.1:c.-31G>A, XM_011541895.2:c.-31G>A, XM_011541895.1:c.-31G>A, XM_011541896.2:c.-31G>A, XM_011541896.1:c.-31G>A, NM_001025374.1:c.-31G>A

Select item 148866216120.

rs1488662161 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:12022440 (GRCh38)
1:12082497 (GRCh37)
Canonical SPDI:: NC_000001.11:12022439:A:G
Gene:: MIIP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.12022440A>G, NC_000001.10:g.12082497A>G, NG_030022.2:g.8199A>G, NM_021933.4:c.460A>G, NM_021933.3:c.460A>G, XM_005263487.5:c.460A>G, XM_005263487.4:c.460A>G, XM_005263487.3:c.460A>G, XM_005263487.2:c.460A>G, XM_005263487.1:c.460A>G, XM_011541895.2:c.460A>G, XM_011541895.1:c.460A>G, XM_011541896.2:c.460A>G, XM_011541896.1:c.460A>G, NM_001025374.1:c.460A>G, NP_068752.2:p.Lys154Glu, XP_005263544.1:p.Lys154Glu, XP_011540197.1:p.Lys154Glu, XP_011540198.1:p.Lys154Glu

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