SNP Links for Gene (Select 64858) - SNP

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Select item 14914773291.

rs1491477329 has merged into rs35433996 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACA>-,CA,CACA,CACACACA,CACACACACA,CACACACACACA [Show Flanks]
Chromosome:: 1:113908816 (GRCh38)
1:114451438 (GRCh37)
Canonical SPDI:: NC_000001.11:113908803:CACACACACACACACACA:CACACACACACA,NC_000001.11:113908803:CACACACACACACACACA:CACACACACACACA,NC_000001.11:113908803:CACACACACACACACACA:CACACACACACACACA,NC_000001.11:113908803:CACACACACACACACACA:CACACACACACACACACACA,NC_000001.11:113908803:CACACACACACACACACA:CACACACACACACACACACACA,NC_000001.11:113908803:CACACACACACACACACA:CACACACACACACACACACACACA
Gene:: DCLRE1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACACACACACA=0.00007/1 (ALFA)
-=0.02759/4 (Vietnamese)
-=0.10167/61 (NorthernSweden)
-=0.11961/599 (1000Genomes)
HGVS:: NC_000001.11:g.113908804CA[6], NC_000001.11:g.113908804CA[7], NC_000001.11:g.113908804CA[8], NC_000001.11:g.113908804CA[10], NC_000001.11:g.113908804CA[11], NC_000001.11:g.113908804CA[12], NC_000001.10:g.114451426CA[6], NC_000001.10:g.114451426CA[7], NC_000001.10:g.114451426CA[8], NC_000001.10:g.114451426CA[10], NC_000001.10:g.114451426CA[11], NC_000001.10:g.114451426CA[12], NG_031901.1:g.1299TG[6], NG_031901.1:g.1299TG[7], NG_031901.1:g.1299TG[8], NG_031901.1:g.1299TG[10], NG_031901.1:g.1299TG[11], NG_031901.1:g.1299TG[12], NG_057565.1:g.9186CA[6], NG_057565.1:g.9186CA[7], NG_057565.1:g.9186CA[8], NG_057565.1:g.9186CA[10], NG_057565.1:g.9186CA[11], NG_057565.1:g.9186CA[12]

Select item 14914759292.

rs1491475929 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 1:113906046 (GRCh38)
1:114448668 (GRCh37)
Canonical SPDI:: NC_000001.11:113906045:CT:
Gene:: AP4B1 (Varview), DCLRE1B (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000001.11:g.113906046_113906047del, NC_000001.10:g.114448668_114448669del, NG_031901.1:g.4073_4074del, NG_057565.1:g.6428_6429del

Select item 14914595153.

rs1491459515 has merged into rs1159693224 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:113906058 (GRCh38)
1:114448680 (GRCh37)
Canonical SPDI:: NC_000001.11:113906046:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:113906046:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:113906046:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:113906046:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:113906046:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:113906046:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:113906046:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:113906046:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:113906046:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:113906046:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:113906046:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:113906046:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:113906046:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:113906046:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:113906046:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:113906046:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:113906046:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:113906046:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:113906046:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:113906046:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:113906046:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:113906046:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:113906046:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:113906046:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: AP4B1 (Varview), DCLRE1B (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.000034/9 (TOPMED)
HGVS:: NC_000001.11:g.113906058_113906074del, NC_000001.11:g.113906059_113906074del, NC_000001.11:g.113906060_113906074del, NC_000001.11:g.113906061_113906074del, NC_000001.11:g.113906062_113906074del, NC_000001.11:g.113906063_113906074del, NC_000001.11:g.113906064_113906074del, NC_000001.11:g.113906065_113906074del, NC_000001.11:g.113906066_113906074del, NC_000001.11:g.113906067_113906074del, NC_000001.11:g.113906068_113906074del, NC_000001.11:g.113906069_113906074del, NC_000001.11:g.113906070_113906074del, NC_000001.11:g.113906071_113906074del, NC_000001.11:g.113906072_113906074del, NC_000001.11:g.113906073_113906074del, NC_000001.11:g.113906074del, NC_000001.11:g.113906074dup, NC_000001.11:g.113906073_113906074dup, NC_000001.11:g.113906072_113906074dup, NC_000001.11:g.113906071_113906074dup, NC_000001.11:g.113906067_113906074dup, NC_000001.11:g.113906066_113906074dup, NC_000001.11:g.113906047_113906074dup, NC_000001.10:g.114448680_114448696del, NC_000001.10:g.114448681_114448696del, NC_000001.10:g.114448682_114448696del, NC_000001.10:g.114448683_114448696del, NC_000001.10:g.114448684_114448696del, NC_000001.10:g.114448685_114448696del, NC_000001.10:g.114448686_114448696del, NC_000001.10:g.114448687_114448696del, NC_000001.10:g.114448688_114448696del, NC_000001.10:g.114448689_114448696del, NC_000001.10:g.114448690_114448696del, NC_000001.10:g.114448691_114448696del, NC_000001.10:g.114448692_114448696del, NC_000001.10:g.114448693_114448696del, NC_000001.10:g.114448694_114448696del, NC_000001.10:g.114448695_114448696del, NC_000001.10:g.114448696del, NC_000001.10:g.114448696dup, NC_000001.10:g.114448695_114448696dup, NC_000001.10:g.114448694_114448696dup, NC_000001.10:g.114448693_114448696dup, NC_000001.10:g.114448689_114448696dup, NC_000001.10:g.114448688_114448696dup, NC_000001.10:g.114448669_114448696dup, NG_031901.1:g.4057_4073del, NG_031901.1:g.4058_4073del, NG_031901.1:g.4059_4073del, NG_031901.1:g.4060_4073del, NG_031901.1:g.4061_4073del, NG_031901.1:g.4062_4073del, NG_031901.1:g.4063_4073del, NG_031901.1:g.4064_4073del, NG_031901.1:g.4065_4073del, NG_031901.1:g.4066_4073del, NG_031901.1:g.4067_4073del, NG_031901.1:g.4068_4073del, NG_031901.1:g.4069_4073del, NG_031901.1:g.4070_4073del, NG_031901.1:g.4071_4073del, NG_031901.1:g.4072_4073del, NG_031901.1:g.4073del, NG_031901.1:g.4073dup, NG_031901.1:g.4072_4073dup, NG_031901.1:g.4071_4073dup, NG_031901.1:g.4070_4073dup, NG_031901.1:g.4066_4073dup, NG_031901.1:g.4065_4073dup, NG_031901.1:g.4046_4073dup, NG_057565.1:g.6440_6456del, NG_057565.1:g.6441_6456del, NG_057565.1:g.6442_6456del, NG_057565.1:g.6443_6456del, NG_057565.1:g.6444_6456del, NG_057565.1:g.6445_6456del, NG_057565.1:g.6446_6456del, NG_057565.1:g.6447_6456del, NG_057565.1:g.6448_6456del, NG_057565.1:g.6449_6456del, NG_057565.1:g.6450_6456del, NG_057565.1:g.6451_6456del, NG_057565.1:g.6452_6456del, NG_057565.1:g.6453_6456del, NG_057565.1:g.6454_6456del, NG_057565.1:g.6455_6456del, NG_057565.1:g.6456del, NG_057565.1:g.6456dup, NG_057565.1:g.6455_6456dup, NG_057565.1:g.6454_6456dup, NG_057565.1:g.6453_6456dup, NG_057565.1:g.6449_6456dup, NG_057565.1:g.6448_6456dup, NG_057565.1:g.6429_6456dup

Select item 14908252734.

rs1490825273 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:113905039 (GRCh38)
1:114447661 (GRCh37)
Canonical SPDI:: NC_000001.11:113905038:C:T
Gene:: AP4B1 (Varview), DCLRE1B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_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_000001.11:g.113905039C>T, NC_000001.10:g.114447661C>T, NG_031901.1:g.5081G>A, NG_057565.1:g.5421C>T, NM_006594.4:c.-174G>A, NM_006594.3:c.-174G>A, NM_001253853.2:c.-343G>A, NM_001253853.1:c.-343G>A

Select item 14907791805.

rs1490779180 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:113913667 (GRCh38)
1:114456289 (GRCh37)
Canonical SPDI:: NC_000001.11:113913666:T:G
Gene:: DCLRE1B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.113913667T>G, NC_000001.10:g.114456289T>G, NG_057565.1:g.14049T>G, NM_022836.4:c.*1476T>G, NM_022836.3:c.*1476T>G, NM_001319946.2:c.*1476T>G, NM_001319946.1:c.*1476T>G, NM_001319947.2:c.*1476T>G, NM_001319947.1:c.*1476T>G, NM_001363690.2:c.*1510T>G, NM_001363690.1:c.*1510T>G, NM_001363691.2:c.*1510T>G, NM_001363691.1:c.*1510T>G

Select item 14906448226.

rs1490644822 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:113904688 (GRCh38)
1:114447310 (GRCh37)
Canonical SPDI:: NC_000001.11:113904687:C:T
Gene:: AP4B1 (Varview), DCLRE1B (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.113904688C>T, NC_000001.10:g.114447310C>T, NG_031901.1:g.5432G>A, NM_006594.5:c.30G>A, NM_006594.4:c.30G>A, NM_006594.3:c.30G>A, NM_001253852.3:c.30G>A, NM_001253852.2:c.30G>A, NM_001253852.1:c.30G>A, NM_001253853.3:c.-140G>A, NM_001253853.2:c.-140G>A, NM_001253853.1:c.-140G>A, NM_001308312.2:c.30G>A, NM_001308312.1:c.30G>A, NG_057565.1:g.5070C>T, NM_001319947.2:c.-351C>T, NM_001319947.1:c.-351C>T, XM_011540523.4:c.30G>A, XM_011540523.3:c.30G>A, XM_011540523.2:c.30G>A, XM_011540523.1:c.30G>A, XM_011540525.4:c.30G>A, XM_011540525.3:c.30G>A, XM_011540525.2:c.30G>A, XM_011540525.1:c.30G>A, XM_017000091.3:c.30G>A, XM_017000091.2:c.30G>A, XM_017000091.1:c.30G>A, XM_017000093.3:c.30G>A, XM_017000093.2:c.30G>A, XM_017000093.1:c.30G>A, XM_024452423.2:c.30G>A, XM_024452423.1:c.30G>A, XM_017000090.2:c.30G>A, XM_017000090.1:c.30G>A, XM_024452435.2:c.30G>A, XM_024452435.1:c.30G>A, XM_024452441.2:c.30G>A, XM_024452441.1:c.30G>A, XM_047438847.1:c.30G>A, XR_007066904.1:n.193G>A, XM_047439052.1:c.30G>A

Select item 14903191477.

rs1490319147 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACTG>- [Show Flanks]
Chromosome:: 1:113903585 (GRCh38)
1:114446207 (GRCh37)
Canonical SPDI:: NC_000001.11:113903581:CTGACACTG:CTG
Gene:: AP4B1 (Varview), DCLRE1B (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.113903585_113903590del, NC_000001.10:g.114446207_114446212del, NG_031901.1:g.6533_6538del, NG_057565.1:g.3967_3972del

Select item 14894808628.

rs1489480862 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:113908792 (GRCh38)
1:114451414 (GRCh37)
Canonical SPDI:: NC_000001.11:113908791:C:A
Gene:: DCLRE1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.113908792C>A, NC_000001.10:g.114451414C>A, NG_031901.1:g.1328G>T, NG_057565.1:g.9174C>A

Select item 14894549189.

rs1489454918 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:113909323 (GRCh38)
1:114451945 (GRCh37)
Canonical SPDI:: NC_000001.11:113909322:C:G
Gene:: DCLRE1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.113909323C>G, NC_000001.10:g.114451945C>G, NG_031901.1:g.797G>C, NG_057565.1:g.9705C>G

Select item 148939815710.

rs1489398157 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:113908304 (GRCh38)
1:114450926 (GRCh37)
Canonical SPDI:: NC_000001.11:113908303:A:G
Gene:: DCLRE1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.113908304A>G, NC_000001.10:g.114450926A>G, NG_031901.1:g.1816T>C, NG_057565.1:g.8686A>G

Select item 148932788611.

rs1489327886 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:113902994 (GRCh38)
1:114445616 (GRCh37)
Canonical SPDI:: NC_000001.11:113902993:T:C
Gene:: AP4B1 (Varview), DCLRE1B (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.113902994T>C, NC_000001.10:g.114445616T>C, NG_031901.1:g.7126A>G, NG_057565.1:g.3376T>C

Select item 148901643112.

rs1489016431 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:113908423 (GRCh38)
1:114451045 (GRCh37)
Canonical SPDI:: NC_000001.11:113908422:C:G,NC_000001.11:113908422:C:T
Gene:: DCLRE1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0./0 (KOREAN)
G=0.00046/8 (TOMMO)
HGVS:: NC_000001.11:g.113908423C>G, NC_000001.11:g.113908423C>T, NC_000001.10:g.114451045C>G, NC_000001.10:g.114451045C>T, NG_031901.1:g.1697G>C, NG_031901.1:g.1697G>A, NG_057565.1:g.8805C>G, NG_057565.1:g.8805C>T

Select item 148869683413.

rs1488696834 [Homo sapiens]

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

Select item 148868479214.

rs1488684792 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:113905275 (GRCh38)
1:114447897 (GRCh37)
Canonical SPDI:: NC_000001.11:113905274:G:A,NC_000001.11:113905274:G:T
Gene:: AP4B1 (Varview), DCLRE1B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by cluster
HGVS:: NC_000001.11:g.113905275G>A, NC_000001.11:g.113905275G>T, NC_000001.10:g.114447897G>A, NC_000001.10:g.114447897G>T, NG_031901.1:g.4845C>T, NG_031901.1:g.4845C>A, NG_057565.1:g.5657G>A, NG_057565.1:g.5657G>T

Select item 148804442215.

rs1488044422 has merged into rs1411667381 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC [Show Flanks]
Chromosome:: 1:113907986 (GRCh38)
1:114450608 (GRCh37)
Canonical SPDI:: NC_000001.11:113907985:CCCCC:CCCC,NC_000001.11:113907985:CCCCC:CCCCCC
Gene:: DCLRE1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCC=0.000043/1 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000021/5 (GnomAD_exomes)
HGVS:: NC_000001.11:g.113907990del, NC_000001.11:g.113907990dup, NC_000001.10:g.114450612del, NC_000001.10:g.114450612dup, NG_031901.1:g.2134del, NG_031901.1:g.2134dup, NG_057565.1:g.8372del, NG_057565.1:g.8372dup

Select item 148802079716.

rs1488020797 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:113903274 (GRCh38)
1:114445896 (GRCh37)
Canonical SPDI:: NC_000001.11:113903273:C:A
Gene:: AP4B1 (Varview), DCLRE1B (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.113903274C>A, NC_000001.10:g.114445896C>A, NG_031901.1:g.6846G>T, NG_057565.1:g.3656C>A

Select item 148777608617.

rs1487776086 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:113911244 (GRCh38)
1:114453866 (GRCh37)
Canonical SPDI:: NC_000001.11:113911243:G:T
Gene:: DCLRE1B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.113911244G>T, NC_000001.10:g.114453866G>T, NG_057565.1:g.11626G>T, NM_022836.4:c.652G>T, NM_022836.3:c.652G>T, NM_001319946.2:c.274G>T, NM_001319946.1:c.274G>T, NM_001319947.2:c.274G>T, NM_001319947.1:c.274G>T, NM_001363690.2:c.652G>T, NM_001363690.1:c.652G>T, NM_001363691.2:c.274G>T, NM_001363691.1:c.274G>T, NP_073747.1:p.Asp218Tyr, NP_001306875.1:p.Asp92Tyr, NP_001306876.1:p.Asp92Tyr, NP_001350619.1:p.Asp218Tyr, NP_001350620.1:p.Asp92Tyr

Select item 148730520418.

rs1487305204 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 1:113905355 (GRCh38)
1:114447977 (GRCh37)
Canonical SPDI:: NC_000001.11:113905354:C:A,NC_000001.11:113905354:C:G
Gene:: AP4B1 (Varview), DCLRE1B (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
A=0.000071/1 (TOMMO)
HGVS:: NC_000001.11:g.113905355C>A, NC_000001.11:g.113905355C>G, NC_000001.10:g.114447977C>A, NC_000001.10:g.114447977C>G, NG_031901.1:g.4765G>T, NG_031901.1:g.4765G>C, NG_057565.1:g.5737C>A, NG_057565.1:g.5737C>G, NM_022836.4:c.-232C>A, NM_022836.4:c.-232C>G, NM_022836.3:c.-232C>A, NM_022836.3:c.-232C>G, NM_001319946.2:c.-444C>A, NM_001319946.2:c.-444C>G, NM_001319946.1:c.-444C>A, NM_001319946.1:c.-444C>G, NM_001363690.2:c.-232C>A, NM_001363690.2:c.-232C>G, NM_001363690.1:c.-232C>A, NM_001363690.1:c.-232C>G, NM_001363691.2:c.-444C>A, NM_001363691.2:c.-444C>G, NM_001363691.1:c.-444C>A, NM_001363691.1:c.-444C>G

Select item 148715722219.

rs1487157222 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:113908852 (GRCh38)
1:114451474 (GRCh37)
Canonical SPDI:: NC_000001.11:113908851:A:G
Gene:: DCLRE1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.113908852A>G, NC_000001.10:g.114451474A>G, NG_031901.1:g.1268T>C, NG_057565.1:g.9234A>G

Select item 148697806020.

rs1486978060 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:113906150 (GRCh38)
1:114448772 (GRCh37)
Canonical SPDI:: NC_000001.11:113906149:G:A
Gene:: AP4B1 (Varview), DCLRE1B (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000044/6 (GnomAD)
HGVS:: NC_000001.11:g.113906150G>A, NC_000001.10:g.114448772G>A, NG_031901.1:g.3970C>T, NG_057565.1:g.6532G>A

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