SNP Links for Gene (Select 53916) - SNP

Links from Gene

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Select item 14915358241.

rs1491535824 [Homo sapiens]

Variant type:: INS
Alleles:: ->AAT [Show Flanks]
Chromosome:: 19:40776735 (GRCh38)
19:41282641 (GRCh37)
Canonical SPDI:: NC_000019.10:40776735::AAT
Gene:: MIA (Varview), RAB4B (Varview), MIA-RAB4B (Varview), RAB4B-EGLN2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAT=0./0 (ALFA)
AAT=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.40776735_40776736insAAT, NC_000019.9:g.41282640_41282641insAAT

Select item 14915273052.

rs1491527305 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 19:40788481 (GRCh38)
19:41294386 (GRCh37)
Canonical SPDI:: NC_000019.10:40788480:TA:
Gene:: RAB4B (Varview), MIA-RAB4B (Varview), RAB4B-EGLN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.0027/32 (ALFA)
-=0.00091/15 (TOMMO)
-=0.00603/412 (GnomAD)
HGVS:: NC_000019.10:g.40788481_40788482del, NC_000019.9:g.41294386_41294387del

Select item 14914563603.

rs1491456360 [Homo sapiens]

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

Select item 14914246664.

rs1491424666 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:40783147 (GRCh38)
19:41289052 (GRCh37)
Canonical SPDI:: NC_000019.10:40783146:CA:
Gene:: RAB4B (Varview), MIA-RAB4B (Varview), RAB4B-EGLN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000019.10:g.40783147_40783148del, NC_000019.9:g.41289052_41289053del

Select item 14913870405.

rs1491387040 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 19:40783589 (GRCh38)
19:41289494 (GRCh37)
Canonical SPDI:: NC_000019.10:40783588:AA:
Gene:: RAB4B (Varview), MIA-RAB4B (Varview), RAB4B-EGLN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000023/6 (TOPMED)
HGVS:: NC_000019.10:g.40783589_40783590del, NC_000019.9:g.41289494_41289495del

Select item 14913789216.

rs1491378921 has merged into rs35337272 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT [Show Flanks]
Chromosome:: 19:40790869 (GRCh38)
19:41296774 (GRCh37)
Canonical SPDI:: NC_000019.10:40790856:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:40790856:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:40790856:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:40790856:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:40790856:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:40790856:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:40790856:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: RAB4B (Varview), MIA-RAB4B (Varview), RAB4B-EGLN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000019.10:g.40790869_40790872del, NC_000019.10:g.40790870_40790872del, NC_000019.10:g.40790871_40790872del, NC_000019.10:g.40790872del, NC_000019.10:g.40790872dup, NC_000019.10:g.40790871_40790872dup, NC_000019.10:g.40790870_40790872dup, NC_000019.9:g.41296774_41296777del, NC_000019.9:g.41296775_41296777del, NC_000019.9:g.41296776_41296777del, NC_000019.9:g.41296777del, NC_000019.9:g.41296777dup, NC_000019.9:g.41296776_41296777dup, NC_000019.9:g.41296775_41296777dup

Select item 14913496177.

rs1491349617 has merged into rs1298690591 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 19:40790686 (GRCh38)
19:41296591 (GRCh37)
Canonical SPDI:: NC_000019.10:40790685:AA:A,NC_000019.10:40790685:AA:AAA
Gene:: RAB4B (Varview), MIA-RAB4B (Varview), RAB4B-EGLN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
-=0.00001/1 (GnomAD)
-=0.00016/1 (1000Genomes)
HGVS:: NC_000019.10:g.40790687del, NC_000019.10:g.40790687dup, NC_000019.9:g.41296592del, NC_000019.9:g.41296592dup

Select item 14913115508.

rs1491311550 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 19:40776735 (GRCh38)
19:41282640 (GRCh37)
Canonical SPDI:: NC_000019.10:40776734:CT:
Gene:: MIA (Varview), RAB4B (Varview), MIA-RAB4B (Varview), RAB4B-EGLN2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000023/6 (TOPMED)
HGVS:: NC_000019.10:g.40776735_40776736del, NC_000019.9:g.41282640_41282641del

Select item 14911840049.

rs1491184004 has merged into rs1168587843 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:40783154 (GRCh38)
19:41289059 (GRCh37)
Canonical SPDI:: NC_000019.10:40783147:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAA,NC_000019.10:40783147:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:40783147:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:40783147:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:40783147:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:40783147:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:40783147:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:40783147:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:40783147:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:40783147:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:40783147:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:40783147:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:40783147:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:40783147:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:40783147:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:40783147:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:40783147:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:40783147:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:40783147:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:40783147:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:40783147:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:40783147:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:40783147:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:40783147:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:40783147:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:40783147:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:40783147:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:40783147:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:40783147:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RAB4B (Varview), MIA-RAB4B (Varview), RAB4B-EGLN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0./0 (ALFA)
HGVS:: NC_000019.10:g.40783154_40783172del, NC_000019.10:g.40783158_40783172del, NC_000019.10:g.40783159_40783172del, NC_000019.10:g.40783160_40783172del, NC_000019.10:g.40783161_40783172del, NC_000019.10:g.40783162_40783172del, NC_000019.10:g.40783163_40783172del, NC_000019.10:g.40783164_40783172del, NC_000019.10:g.40783165_40783172del, NC_000019.10:g.40783166_40783172del, NC_000019.10:g.40783167_40783172del, NC_000019.10:g.40783168_40783172del, NC_000019.10:g.40783169_40783172del, NC_000019.10:g.40783170_40783172del, NC_000019.10:g.40783171_40783172del, NC_000019.10:g.40783172del, NC_000019.10:g.40783172dup, NC_000019.10:g.40783171_40783172dup, NC_000019.10:g.40783170_40783172dup, NC_000019.10:g.40783169_40783172dup, NC_000019.10:g.40783168_40783172dup, NC_000019.10:g.40783167_40783172dup, NC_000019.10:g.40783166_40783172dup, NC_000019.10:g.40783165_40783172dup, NC_000019.10:g.40783164_40783172dup, NC_000019.10:g.40783163_40783172dup, NC_000019.10:g.40783162_40783172dup, NC_000019.10:g.40783160_40783172dup, NC_000019.10:g.40783158_40783172dup, NC_000019.9:g.41289059_41289077del, NC_000019.9:g.41289063_41289077del, NC_000019.9:g.41289064_41289077del, NC_000019.9:g.41289065_41289077del, NC_000019.9:g.41289066_41289077del, NC_000019.9:g.41289067_41289077del, NC_000019.9:g.41289068_41289077del, NC_000019.9:g.41289069_41289077del, NC_000019.9:g.41289070_41289077del, NC_000019.9:g.41289071_41289077del, NC_000019.9:g.41289072_41289077del, NC_000019.9:g.41289073_41289077del, NC_000019.9:g.41289074_41289077del, NC_000019.9:g.41289075_41289077del, NC_000019.9:g.41289076_41289077del, NC_000019.9:g.41289077del, NC_000019.9:g.41289077dup, NC_000019.9:g.41289076_41289077dup, NC_000019.9:g.41289075_41289077dup, NC_000019.9:g.41289074_41289077dup, NC_000019.9:g.41289073_41289077dup, NC_000019.9:g.41289072_41289077dup, NC_000019.9:g.41289071_41289077dup, NC_000019.9:g.41289070_41289077dup, NC_000019.9:g.41289069_41289077dup, NC_000019.9:g.41289068_41289077dup, NC_000019.9:g.41289067_41289077dup, NC_000019.9:g.41289065_41289077dup, NC_000019.9:g.41289063_41289077dup

Select item 149118028710.

rs1491180287 has merged into rs1168587843 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:40783154 (GRCh38)
19:41289059 (GRCh37)
Canonical SPDI:: NC_000019.10:40783147:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAA,NC_000019.10:40783147:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:40783147:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:40783147:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:40783147:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:40783147:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:40783147:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:40783147:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:40783147:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:40783147:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:40783147:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:40783147:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:40783147:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:40783147:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:40783147:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:40783147:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:40783147:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:40783147:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:40783147:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:40783147:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:40783147:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:40783147:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:40783147:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:40783147:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:40783147:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:40783147:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:40783147:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:40783147:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:40783147:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RAB4B (Varview), MIA-RAB4B (Varview), RAB4B-EGLN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0./0 (ALFA)
HGVS:: NC_000019.10:g.40783154_40783172del, NC_000019.10:g.40783158_40783172del, NC_000019.10:g.40783159_40783172del, NC_000019.10:g.40783160_40783172del, NC_000019.10:g.40783161_40783172del, NC_000019.10:g.40783162_40783172del, NC_000019.10:g.40783163_40783172del, NC_000019.10:g.40783164_40783172del, NC_000019.10:g.40783165_40783172del, NC_000019.10:g.40783166_40783172del, NC_000019.10:g.40783167_40783172del, NC_000019.10:g.40783168_40783172del, NC_000019.10:g.40783169_40783172del, NC_000019.10:g.40783170_40783172del, NC_000019.10:g.40783171_40783172del, NC_000019.10:g.40783172del, NC_000019.10:g.40783172dup, NC_000019.10:g.40783171_40783172dup, NC_000019.10:g.40783170_40783172dup, NC_000019.10:g.40783169_40783172dup, NC_000019.10:g.40783168_40783172dup, NC_000019.10:g.40783167_40783172dup, NC_000019.10:g.40783166_40783172dup, NC_000019.10:g.40783165_40783172dup, NC_000019.10:g.40783164_40783172dup, NC_000019.10:g.40783163_40783172dup, NC_000019.10:g.40783162_40783172dup, NC_000019.10:g.40783160_40783172dup, NC_000019.10:g.40783158_40783172dup, NC_000019.9:g.41289059_41289077del, NC_000019.9:g.41289063_41289077del, NC_000019.9:g.41289064_41289077del, NC_000019.9:g.41289065_41289077del, NC_000019.9:g.41289066_41289077del, NC_000019.9:g.41289067_41289077del, NC_000019.9:g.41289068_41289077del, NC_000019.9:g.41289069_41289077del, NC_000019.9:g.41289070_41289077del, NC_000019.9:g.41289071_41289077del, NC_000019.9:g.41289072_41289077del, NC_000019.9:g.41289073_41289077del, NC_000019.9:g.41289074_41289077del, NC_000019.9:g.41289075_41289077del, NC_000019.9:g.41289076_41289077del, NC_000019.9:g.41289077del, NC_000019.9:g.41289077dup, NC_000019.9:g.41289076_41289077dup, NC_000019.9:g.41289075_41289077dup, NC_000019.9:g.41289074_41289077dup, NC_000019.9:g.41289073_41289077dup, NC_000019.9:g.41289072_41289077dup, NC_000019.9:g.41289071_41289077dup, NC_000019.9:g.41289070_41289077dup, NC_000019.9:g.41289069_41289077dup, NC_000019.9:g.41289068_41289077dup, NC_000019.9:g.41289067_41289077dup, NC_000019.9:g.41289065_41289077dup, NC_000019.9:g.41289063_41289077dup

Select item 149117274911.

rs1491172749 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 19:40793597 (GRCh38)
19:41299502 (GRCh37)
Canonical SPDI:: NC_000019.10:40793595:AGA:A
Gene:: RAB4B (Varview), MIA-RAB4B (Varview), RAB4B-EGLN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.40793597_40793598del, NC_000019.9:g.41299502_41299503del

Select item 149115264712.

rs1491152647 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 19:40790685 (GRCh38)
19:41296590 (GRCh37)
Canonical SPDI:: NC_000019.10:40790684:TA:
Gene:: RAB4B (Varview), MIA-RAB4B (Varview), RAB4B-EGLN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00074/12 (ALFA)
-=0.00201/33 (TOMMO)
HGVS:: NC_000019.10:g.40790685_40790686del, NC_000019.9:g.41296590_41296591del

Select item 149113670513.

rs1491136705 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AG [Show Flanks]
Chromosome:: 19:40783589 (GRCh38)
19:41289495 (GRCh37)
Canonical SPDI:: NC_000019.10:40783589:AGAGAGAG:AGAGAGAGAG
Gene:: RAB4B (Varview), MIA-RAB4B (Varview), RAB4B-EGLN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAG=0./0 (ALFA)
AG=0.000034/9 (TOPMED)
AG=0.00005/7 (GnomAD)
HGVS:: NC_000019.10:g.40783590AG[5], NC_000019.9:g.41289495AG[5]

Select item 149046670414.

rs1490466704 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:40787626 (GRCh38)
19:41293531 (GRCh37)
Canonical SPDI:: NC_000019.10:40787625:A:G
Gene:: RAB4B (Varview), MIA-RAB4B (Varview), RAB4B-EGLN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.40787626A>G, NC_000019.9:g.41293531A>G

Select item 149045189215.

rs1490451892 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:40785732 (GRCh38)
19:41291637 (GRCh37)
Canonical SPDI:: NC_000019.10:40785731:G:A
Gene:: RAB4B (Varview), MIA-RAB4B (Varview), RAB4B-EGLN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.40785732G>A, NC_000019.9:g.41291637G>A

Select item 149014089016.

rs1490140890 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 19:40789327 (GRCh38)
19:41295232 (GRCh37)
Canonical SPDI:: NC_000019.10:40789326:T:A,NC_000019.10:40789326:T:C
Gene:: RAB4B (Varview), MIA-RAB4B (Varview), RAB4B-EGLN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.0008/13 (ALFA)
C=0.00094/6 (1000Genomes)
C=0.01095/32 (KOREAN)
HGVS:: NC_000019.10:g.40789327T>A, NC_000019.10:g.40789327T>C, NC_000019.9:g.41295232T>A, NC_000019.9:g.41295232T>C

Select item 149013025417.

rs1490130254 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:40790350 (GRCh38)
19:41296255 (GRCh37)
Canonical SPDI:: NC_000019.10:40790349:C:G
Gene:: RAB4B (Varview), MIA-RAB4B (Varview), RAB4B-EGLN2 (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_000019.10:g.40790350C>G, NC_000019.9:g.41296255C>G

Select item 148997726418.

rs1489977264 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 19:40788660 (GRCh38)
19:41294565 (GRCh37)
Canonical SPDI:: NC_000019.10:40788659:C:A,NC_000019.10:40788659:C:G
Gene:: RAB4B (Varview), MIA-RAB4B (Varview), RAB4B-EGLN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
A=0.000022/3 (GnomAD)
HGVS:: NC_000019.10:g.40788660C>A, NC_000019.10:g.40788660C>G, NC_000019.9:g.41294565C>A, NC_000019.9:g.41294565C>G

Select item 148993652519.

rs1489936525 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:40789049 (GRCh38)
19:41294954 (GRCh37)
Canonical SPDI:: NC_000019.10:40789048:G:C
Gene:: RAB4B (Varview), MIA-RAB4B (Varview), RAB4B-EGLN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.40789049G>C, NC_000019.9:g.41294954G>C

Select item 148984542720.

rs1489845427 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:40783572 (GRCh38)
19:41289477 (GRCh37)
Canonical SPDI:: NC_000019.10:40783571:A:G
Gene:: RAB4B (Varview), MIA-RAB4B (Varview), RAB4B-EGLN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000019.10:g.40783572A>G, NC_000019.9:g.41289477A>G

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