SNP Links for Gene (Select 22931) - SNP

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Select item 14913919811.

rs1491391981 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 10:27508036 (GRCh38)
10:27796965 (GRCh37)
Canonical SPDI:: NC_000010.11:27508035:AG:
Gene:: RAB18 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000843/10 (ALFA)
-=0.001002/139 (GnomAD)
-=0.002183/4 (Korea1K)
HGVS:: NC_000010.11:g.27508036_27508037del, NC_000010.10:g.27796965_27796966del, NG_032035.1:g.8863_8864del

Select item 14913383042.

rs1491338304 has merged into rs58688075 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:27520926 (GRCh38)
10:27809855 (GRCh37)
Canonical SPDI:: NC_000010.11:27520916:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000010.11:27520916:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000010.11:27520916:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:27520916:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:27520916:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:27520916:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:27520916:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:27520916:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:27520916:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:27520916:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:27520916:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:27520916:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:27520916:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:27520916:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:27520916:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:27520916:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:27520916:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:27520916:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:27520916:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:27520916:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:27520916:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:27520916:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RAB18 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.27520926_27520941del, NC_000010.11:g.27520927_27520941del, NC_000010.11:g.27520928_27520941del, NC_000010.11:g.27520929_27520941del, NC_000010.11:g.27520930_27520941del, NC_000010.11:g.27520931_27520941del, NC_000010.11:g.27520932_27520941del, NC_000010.11:g.27520933_27520941del, NC_000010.11:g.27520934_27520941del, NC_000010.11:g.27520935_27520941del, NC_000010.11:g.27520936_27520941del, NC_000010.11:g.27520937_27520941del, NC_000010.11:g.27520939_27520941del, NC_000010.11:g.27520940_27520941del, NC_000010.11:g.27520941del, NC_000010.11:g.27520941dup, NC_000010.11:g.27520940_27520941dup, NC_000010.11:g.27520939_27520941dup, NC_000010.11:g.27520938_27520941dup, NC_000010.11:g.27520937_27520941dup, NC_000010.11:g.27520936_27520941dup, NC_000010.11:g.27520935_27520941dup, NC_000010.10:g.27809855_27809870del, NC_000010.10:g.27809856_27809870del, NC_000010.10:g.27809857_27809870del, NC_000010.10:g.27809858_27809870del, NC_000010.10:g.27809859_27809870del, NC_000010.10:g.27809860_27809870del, NC_000010.10:g.27809861_27809870del, NC_000010.10:g.27809862_27809870del, NC_000010.10:g.27809863_27809870del, NC_000010.10:g.27809864_27809870del, NC_000010.10:g.27809865_27809870del, NC_000010.10:g.27809866_27809870del, NC_000010.10:g.27809868_27809870del, NC_000010.10:g.27809869_27809870del, NC_000010.10:g.27809870del, NC_000010.10:g.27809870dup, NC_000010.10:g.27809869_27809870dup, NC_000010.10:g.27809868_27809870dup, NC_000010.10:g.27809867_27809870dup, NC_000010.10:g.27809866_27809870dup, NC_000010.10:g.27809865_27809870dup, NC_000010.10:g.27809864_27809870dup, NG_032035.1:g.21753_21768del, NG_032035.1:g.21754_21768del, NG_032035.1:g.21755_21768del, NG_032035.1:g.21756_21768del, NG_032035.1:g.21757_21768del, NG_032035.1:g.21758_21768del, NG_032035.1:g.21759_21768del, NG_032035.1:g.21760_21768del, NG_032035.1:g.21761_21768del, NG_032035.1:g.21762_21768del, NG_032035.1:g.21763_21768del, NG_032035.1:g.21764_21768del, NG_032035.1:g.21766_21768del, NG_032035.1:g.21767_21768del, NG_032035.1:g.21768del, NG_032035.1:g.21768dup, NG_032035.1:g.21767_21768dup, NG_032035.1:g.21766_21768dup, NG_032035.1:g.21765_21768dup, NG_032035.1:g.21764_21768dup, NG_032035.1:g.21763_21768dup, NG_032035.1:g.21762_21768dup

Select item 14912782253.

rs1491278225 has merged into rs1554899531 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 10:27513043 (GRCh38)
10:27801972 (GRCh37)
Canonical SPDI:: NC_000010.11:27513032:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000010.11:27513032:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:27513032:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:27513032:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:27513032:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:27513032:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:27513032:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:27513032:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:27513032:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: RAB18 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.0012/20 (TOMMO)
-=0.03685/65 (Korea1K)
HGVS:: NC_000010.11:g.27513043_27513048del, NC_000010.11:g.27513044_27513048del, NC_000010.11:g.27513045_27513048del, NC_000010.11:g.27513046_27513048del, NC_000010.11:g.27513047_27513048del, NC_000010.11:g.27513048del, NC_000010.11:g.27513048dup, NC_000010.11:g.27513047_27513048dup, NC_000010.11:g.27513044_27513048dup, NC_000010.10:g.27801972_27801977del, NC_000010.10:g.27801973_27801977del, NC_000010.10:g.27801974_27801977del, NC_000010.10:g.27801975_27801977del, NC_000010.10:g.27801976_27801977del, NC_000010.10:g.27801977del, NC_000010.10:g.27801977dup, NC_000010.10:g.27801976_27801977dup, NC_000010.10:g.27801973_27801977dup, NG_032035.1:g.13870_13875del, NG_032035.1:g.13871_13875del, NG_032035.1:g.13872_13875del, NG_032035.1:g.13873_13875del, NG_032035.1:g.13874_13875del, NG_032035.1:g.13875del, NG_032035.1:g.13875dup, NG_032035.1:g.13874_13875dup, NG_032035.1:g.13871_13875dup

Select item 14912243834.

rs1491224383 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ATA,ATATA,ATATATA,ATATATATA,ATATATATATA,ATATATATATATA [Show Flanks]
Chromosome:: 10:27513033 (GRCh38)
10:27801963 (GRCh37)
Canonical SPDI:: NC_000010.11:27513033::A,NC_000010.11:27513033::ATA,NC_000010.11:27513033::ATATA,NC_000010.11:27513033::ATATATA,NC_000010.11:27513033::ATATATATA,NC_000010.11:27513033::ATATATATATA,NC_000010.11:27513033::ATATATATATATA
Gene:: RAB18 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATA=0./0 (ALFA)
A=0.03833/23 (NorthernSweden)
HGVS:: NC_000010.11:g.27513033_27513034insA, NC_000010.11:g.27513033_27513034insATA, NC_000010.11:g.27513033_27513034insATATA, NC_000010.11:g.27513033_27513034insATATATA, NC_000010.11:g.27513033_27513034insATATATATA, NC_000010.11:g.27513033_27513034insATATATATATA, NC_000010.11:g.27513033_27513034insATATATATATATA, NC_000010.10:g.27801962_27801963insA, NC_000010.10:g.27801962_27801963insATA, NC_000010.10:g.27801962_27801963insATATA, NC_000010.10:g.27801962_27801963insATATATA, NC_000010.10:g.27801962_27801963insATATATATA, NC_000010.10:g.27801962_27801963insATATATATATA, NC_000010.10:g.27801962_27801963insATATATATATATA, NG_032035.1:g.13860_13861insA, NG_032035.1:g.13860_13861insATA, NG_032035.1:g.13860_13861insATATA, NG_032035.1:g.13860_13861insATATATA, NG_032035.1:g.13860_13861insATATATATA, NG_032035.1:g.13860_13861insATATATATATA, NG_032035.1:g.13860_13861insATATATATATATA

Select item 14911574545.

rs1491157454 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:27520916 (GRCh38)
10:27809845 (GRCh37)
Canonical SPDI:: NC_000010.11:27520915:CA:
Gene:: RAB18 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000010.11:g.27520916_27520917del, NC_000010.10:g.27809845_27809846del, NG_032035.1:g.21743_21744del

Select item 14910958636.

rs1491095863 has merged into rs1297430346 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGAG>-,AG [Show Flanks]
Chromosome:: 10:27536096 (GRCh38)
10:27825025 (GRCh37)
Canonical SPDI:: NC_000010.11:27536093:AGAGAG:AG,NC_000010.11:27536093:AGAGAG:AGAG
Gene:: RAB18 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AG=0./0 (ALFA)
-=0.00014/2 (TOMMO)
HGVS:: NC_000010.11:g.27536094AG[1], NC_000010.11:g.27536094AG[2], NC_000010.10:g.27825023AG[1], NC_000010.10:g.27825023AG[2], NG_032035.1:g.36921AG[1], NG_032035.1:g.36921AG[2]

Select item 14910313587.

rs1491031358 has merged into rs11459156 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 10:27507559 (GRCh38)
10:27796488 (GRCh37)
Canonical SPDI:: NC_000010.11:27507546:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:27507546:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:27507546:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:27507546:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:27507546:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:27507546:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:27507546:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:27507546:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
Gene:: RAB18 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.24561/1230 (1000Genomes)
HGVS:: NC_000010.11:g.27507559_27507562del, NC_000010.11:g.27507560_27507562del, NC_000010.11:g.27507561_27507562del, NC_000010.11:g.27507562del, NC_000010.11:g.27507562dup, NC_000010.11:g.27507561_27507562dup, NC_000010.11:g.27507560_27507562dup, NC_000010.11:g.27507559_27507562dup, NC_000010.10:g.27796488_27796491del, NC_000010.10:g.27796489_27796491del, NC_000010.10:g.27796490_27796491del, NC_000010.10:g.27796491del, NC_000010.10:g.27796491dup, NC_000010.10:g.27796490_27796491dup, NC_000010.10:g.27796489_27796491dup, NC_000010.10:g.27796488_27796491dup, NG_032035.1:g.8386_8389del, NG_032035.1:g.8387_8389del, NG_032035.1:g.8388_8389del, NG_032035.1:g.8389del, NG_032035.1:g.8389dup, NG_032035.1:g.8388_8389dup, NG_032035.1:g.8387_8389dup, NG_032035.1:g.8386_8389dup

Select item 14909939948.

rs1490993994 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:27541906 (GRCh38)
10:27830835 (GRCh37)
Canonical SPDI:: NC_000010.11:27541905:G:C
Gene:: RAB18 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.27541906G>C, NC_000010.10:g.27830835G>C, NG_032035.1:g.42733G>C, NM_021252.5:c.*3855G>C, NM_021252.4:c.*3855G>C, NM_001256410.2:c.*3855G>C, NM_001256410.1:c.*3855G>C, NR_046172.2:n.4480G>C, NR_046172.1:n.4610G>C, NM_001256411.2:c.*3815G>C, NM_001256411.1:c.*3815G>C, NM_001256412.2:c.*3855G>C, NM_001256412.1:c.*3855G>C, NM_001256415.2:c.*3855G>C, NM_001256415.1:c.*3855G>C

Select item 14909750579.

rs1490975057 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:27526713 (GRCh38)
10:27815642 (GRCh37)
Canonical SPDI:: NC_000010.11:27526712:G:A
Gene:: RAB18 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000034/9 (TOPMED)
A=0.00005/7 (GnomAD)
HGVS:: NC_000010.11:g.27526713G>A, NC_000010.10:g.27815642G>A, NG_032035.1:g.27540G>A

Select item 149087717110.

rs1490877171 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:27516801 (GRCh38)
10:27805730 (GRCh37)
Canonical SPDI:: NC_000010.11:27516800:T:G
Gene:: RAB18 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.27516801T>G, NC_000010.10:g.27805730T>G, NG_032035.1:g.17628T>G

Select item 149084160511.

rs1490841605 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:27517944 (GRCh38)
10:27806873 (GRCh37)
Canonical SPDI:: NC_000010.11:27517943:T:C
Gene:: RAB18 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.27517944T>C, NC_000010.10:g.27806873T>C, NG_032035.1:g.18771T>C

Select item 149073347312.

rs1490733473 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:27525231 (GRCh38)
10:27814160 (GRCh37)
Canonical SPDI:: NC_000010.11:27525230:C:T
Gene:: RAB18 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.27525231C>T, NC_000010.10:g.27814160C>T, NG_032035.1:g.26058C>T

Select item 149065752413.

rs1490657524 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:27532607 (GRCh38)
10:27821536 (GRCh37)
Canonical SPDI:: NC_000010.11:27532606:A:G
Gene:: RAB18 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.27532607A>G, NC_000010.10:g.27821536A>G, NG_032035.1:g.33434A>G

Select item 149051852714.

rs1490518527 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTT>- [Show Flanks]
Chromosome:: 10:27525036 (GRCh38)
10:27813965 (GRCh37)
Canonical SPDI:: NC_000010.11:27525034:TTGTT:T
Gene:: RAB18 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.27525036_27525039del, NC_000010.10:g.27813965_27813968del, NG_032035.1:g.25863_25866del

Select item 149048350715.

rs1490483507 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:27506680 (GRCh38)
10:27795609 (GRCh37)
Canonical SPDI:: NC_000010.11:27506679:A:G
Gene:: RAB18 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.27506680A>G, NC_000010.10:g.27795609A>G, NG_032035.1:g.7507A>G

Select item 149046675316.

rs1490466753 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:27540515 (GRCh38)
10:27829444 (GRCh37)
Canonical SPDI:: NC_000010.11:27540514:T:C
Gene:: RAB18 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000023/3 (GnomAD_exomes)
HGVS:: NC_000010.11:g.27540515T>C, NC_000010.10:g.27829444T>C, NG_032035.1:g.41342T>C, NM_021252.5:c.*2464T>C, NM_021252.4:c.*2464T>C, NM_001256410.2:c.*2464T>C, NM_001256410.1:c.*2464T>C, NR_046172.2:n.3089T>C, NR_046172.1:n.3219T>C, NM_001256411.2:c.*2424T>C, NM_001256411.1:c.*2424T>C, NM_001256412.2:c.*2464T>C, NM_001256412.1:c.*2464T>C, NM_001256415.2:c.*2464T>C, NM_001256415.1:c.*2464T>C

Select item 149038945817.

rs1490389458 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:27516370 (GRCh38)
10:27805299 (GRCh37)
Canonical SPDI:: NC_000010.11:27516369:A:G
Gene:: RAB18 (Varview)
Functional Consequence:: intron_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_000010.11:g.27516370A>G, NC_000010.10:g.27805299A>G, NG_032035.1:g.17197A>G

Select item 149035396218.

rs1490353962 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:27517455 (GRCh38)
10:27806384 (GRCh37)
Canonical SPDI:: NC_000010.11:27517454:G:C
Gene:: RAB18 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.27517455G>C, NC_000010.10:g.27806384G>C, NG_032035.1:g.18282G>C

Select item 149032240319.

rs1490322403 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 10:27509067 (GRCh38)
10:27797997 (GRCh37)
Canonical SPDI:: NC_000010.11:27509067:A:AA
Gene:: RAB18 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000010.11:g.27509068dup, NC_000010.10:g.27797997dup, NG_032035.1:g.9895dup

Select item 149029590820.

rs1490295908 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:27523733 (GRCh38)
10:27812662 (GRCh37)
Canonical SPDI:: NC_000010.11:27523732:C:G,NC_000010.11:27523732:C:T
Gene:: RAB18 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.27523733C>G, NC_000010.11:g.27523733C>T, NC_000010.10:g.27812662C>G, NC_000010.10:g.27812662C>T, NG_032035.1:g.24560C>G, NG_032035.1:g.24560C>T

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