SNP Links for Gene (Select 85415) - SNP

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Select item 14915822461.

rs1491582246 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:33005412 (GRCh38)
19:33496318 (GRCh37)
Canonical SPDI:: NC_000019.10:33005411:CA:
Gene:: RHPN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00051/6 (ALFA)
HGVS:: NC_000019.10:g.33005412_33005413del, NC_000019.9:g.33496318_33496319del

Select item 14915495062.

rs1491549506 has merged into rs34820019 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:33054212 (GRCh38)
19:33545118 (GRCh37)
Canonical SPDI:: NC_000019.10:33054197:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:33054197:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:33054197:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:33054197:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:33054197:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:33054197:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:33054197:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33054197:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33054197:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RHPN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000019.10:g.33054212_33054215del, NC_000019.10:g.33054213_33054215del, NC_000019.10:g.33054214_33054215del, NC_000019.10:g.33054215del, NC_000019.10:g.33054215dup, NC_000019.10:g.33054214_33054215dup, NC_000019.10:g.33054213_33054215dup, NC_000019.10:g.33054211_33054215dup, NC_000019.10:g.33054203_33054215dup, NC_000019.9:g.33545118_33545121del, NC_000019.9:g.33545119_33545121del, NC_000019.9:g.33545120_33545121del, NC_000019.9:g.33545121del, NC_000019.9:g.33545121dup, NC_000019.9:g.33545120_33545121dup, NC_000019.9:g.33545119_33545121dup, NC_000019.9:g.33545117_33545121dup, NC_000019.9:g.33545109_33545121dup

Select item 14915204753.

rs1491520475 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 19:33026512 (GRCh38)
19:33517418 (GRCh37)
Canonical SPDI:: NC_000019.10:33026510:TCT:T
Gene:: RHPN2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000008/1 (GnomAD)
HGVS:: NC_000019.10:g.33026512_33026513del, NC_000019.9:g.33517418_33517419del, NM_033103.5:c.306_307del, NM_033103.4:c.306_307del, NP_149094.3:p.Asn103fs

Select item 14914698924.

rs1491469892 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:32986793 (GRCh38)
19:33477699 (GRCh37)
Canonical SPDI:: NC_000019.10:32986792:CA:
Gene:: RHPN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000019.10:g.32986793_32986794del, NC_000019.9:g.33477699_33477700del

Select item 14914650505.

rs1491465050 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAGAAAGAACGAAAGA [Show Flanks]
Chromosome:: 19:32990160 (GRCh38)
19:33481067 (GRCh37)
Canonical SPDI:: NC_000019.10:32990160:GAAAGA:GAAAGAAAGAAAGAACGAAAGA
Gene:: RHPN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GAAAGAAAGAAAGAACGAAAGA=0./0 (ALFA)
HGVS:: NC_000019.10:g.32990161_32990166GAAA[3]GAACGAAAGA[1], NC_000019.9:g.33481067_33481072GAAA[3]GAACGAAAGA[1]

Select item 14914646296.

rs1491464629 has merged into rs58456679 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AA,AAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:33034793 (GRCh38)
19:33525699 (GRCh37)
Canonical SPDI:: NC_000019.10:33034783:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000019.10:33034783:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:33034783:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:33034783:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:33034783:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:33034783:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:33034783:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:33034783:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:33034783:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:33034783:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:33034783:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:33034783:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:33034783:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RHPN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
AAAAA=0.008/4 (NorthernSweden)
HGVS:: NC_000019.10:g.33034793_33034804del, NC_000019.10:g.33034794_33034804del, NC_000019.10:g.33034795_33034804del, NC_000019.10:g.33034797_33034804del, NC_000019.10:g.33034800_33034804del, NC_000019.10:g.33034802_33034804del, NC_000019.10:g.33034803_33034804del, NC_000019.10:g.33034804del, NC_000019.10:g.33034804dup, NC_000019.10:g.33034803_33034804dup, NC_000019.10:g.33034802_33034804dup, NC_000019.10:g.33034801_33034804dup, NC_000019.10:g.33034800_33034804dup, NC_000019.9:g.33525699_33525710del, NC_000019.9:g.33525700_33525710del, NC_000019.9:g.33525701_33525710del, NC_000019.9:g.33525703_33525710del, NC_000019.9:g.33525706_33525710del, NC_000019.9:g.33525708_33525710del, NC_000019.9:g.33525709_33525710del, NC_000019.9:g.33525710del, NC_000019.9:g.33525710dup, NC_000019.9:g.33525709_33525710dup, NC_000019.9:g.33525708_33525710dup, NC_000019.9:g.33525707_33525710dup, NC_000019.9:g.33525706_33525710dup

Select item 14914598597.

rs1491459859 [Homo sapiens]

Variant type:: INS
Alleles:: ->CA [Show Flanks]
Chromosome:: 19:33003357 (GRCh38)
19:33494264 (GRCh37)
Canonical SPDI:: NC_000019.10:33003357::CA
Gene:: RHPN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CA=0./0 (ALFA)
CA=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.33003357_33003358insCA, NC_000019.9:g.33494263_33494264insCA

Select item 14914424728.

rs1491442472 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:33003357 (GRCh38)
19:33494263 (GRCh37)
Canonical SPDI:: NC_000019.10:33003356:CA:
Gene:: RHPN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00017/2 (ALFA)
-=0.00022/6 (TOMMO)
HGVS:: NC_000019.10:g.33003357_33003358del, NC_000019.9:g.33494263_33494264del

Select item 14914374479.

rs1491437447 [Homo sapiens]

Variant type:: INS
Alleles:: ->AA,AAAAAGAAAGAAAGAA,AAAGAA,AAAGAAAAAGAAAGAA,AAAGAAAAGAA,AAAGAAAGAA,AAAGAAAGAAAGAA,AAAGAAAGAAAGAAAGAA,AAAGAAAGAAAGAAAGAAAAAGAA,AAAGAAAGAAAGAAAGAAAGAA,AAAGAAAGAAAGAAAGAAAGAAAAAGAA,AAAGAAAGAAAGAAAGAAAGAAAGAA,AAAGAAAGAAAGAAAGAAAGAAAGAAAGAA,AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA,AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA,AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA,AAAGAAAGAAAGAAAGAGAGAA,AAAGAAAGAAAGAAGGAAAGAAAGAAAGAA,AGAA,AGAAAGAAAGAA [Show Flanks]
Chromosome:: 19:32990167 (GRCh38)
19:33481074 (GRCh37)
Canonical SPDI:: NC_000019.10:32990167::AA,NC_000019.10:32990167::AAAAAGAAAGAAAGAA,NC_000019.10:32990167::AAAGAA,NC_000019.10:32990167::AAAGAAAAAGAAAGAA,NC_000019.10:32990167::AAAGAAAAGAA,NC_000019.10:32990167::AAAGAAAGAA,NC_000019.10:32990167::AAAGAAAGAAAGAA,NC_000019.10:32990167::AAAGAAAGAAAGAAAGAA,NC_000019.10:32990167::AAAGAAAGAAAGAAAGAAAAAGAA,NC_000019.10:32990167::AAAGAAAGAAAGAAAGAAAGAA,NC_000019.10:32990167::AAAGAAAGAAAGAAAGAAAGAAAAAGAA,NC_000019.10:32990167::AAAGAAAGAAAGAAAGAAAGAAAGAA,NC_000019.10:32990167::AAAGAAAGAAAGAAAGAAAGAAAGAAAGAA,NC_000019.10:32990167::AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA,NC_000019.10:32990167::AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA,NC_000019.10:32990167::AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA,NC_000019.10:32990167::AAAGAAAGAAAGAAAGAGAGAA,NC_000019.10:32990167::AAAGAAAGAAAGAAGGAAAGAAAGAAAGAA,NC_000019.10:32990167::AGAA,NC_000019.10:32990167::AGAAAGAAAGAA
Gene:: RHPN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0.00907/148 (ALFA)
HGVS:: NC_000019.10:g.32990167_32990168insAA, NC_000019.10:g.32990167_32990168insAAAAAGAAAGAAAGAA, NC_000019.10:g.32990167_32990168insAAAGAA, NC_000019.10:g.32990167_32990168insAAAGAAAAAGAAAGAA, NC_000019.10:g.32990167_32990168insAAAGAAAAGAA, NC_000019.10:g.32990167_32990168insAAAGAAAGAA, NC_000019.10:g.32990167_32990168insAAAGAAAGAAAGAA, NC_000019.10:g.32990167_32990168insAAAGAAAGAAAGAAAGAA, NC_000019.10:g.32990167_32990168insAAAGAAAGAAAGAAAGAAAAAGAA, NC_000019.10:g.32990167_32990168insAAAGAAAGAAAGAAAGAAAGAA, NC_000019.10:g.32990167_32990168insAAAGAAAGAAAGAAAGAAAGAAAAAGAA, NC_000019.10:g.32990167_32990168insAAAGAAAGAAAGAAAGAAAGAAAGAA, NC_000019.10:g.32990167_32990168insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA, NC_000019.10:g.32990167_32990168insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA, NC_000019.10:g.32990167_32990168insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA, NC_000019.10:g.32990167_32990168insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA, NC_000019.10:g.32990167_32990168insAAAGAAAGAAAGAAAGAGAGAA, NC_000019.10:g.32990167_32990168insAAAGAAAGAAAGAAGGAAAGAAAGAAAGAA, NC_000019.10:g.32990167_32990168insAGAA, NC_000019.10:g.32990167_32990168insAGAAAGAAAGAA, NC_000019.9:g.33481073_33481074insAA, NC_000019.9:g.33481073_33481074insAAAAAGAAAGAAAGAA, NC_000019.9:g.33481073_33481074insAAAGAA, NC_000019.9:g.33481073_33481074insAAAGAAAAAGAAAGAA, NC_000019.9:g.33481073_33481074insAAAGAAAAGAA, NC_000019.9:g.33481073_33481074insAAAGAAAGAA, NC_000019.9:g.33481073_33481074insAAAGAAAGAAAGAA, NC_000019.9:g.33481073_33481074insAAAGAAAGAAAGAAAGAA, NC_000019.9:g.33481073_33481074insAAAGAAAGAAAGAAAGAAAAAGAA, NC_000019.9:g.33481073_33481074insAAAGAAAGAAAGAAAGAAAGAA, NC_000019.9:g.33481073_33481074insAAAGAAAGAAAGAAAGAAAGAAAAAGAA, NC_000019.9:g.33481073_33481074insAAAGAAAGAAAGAAAGAAAGAAAGAA, NC_000019.9:g.33481073_33481074insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA, NC_000019.9:g.33481073_33481074insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA, NC_000019.9:g.33481073_33481074insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA, NC_000019.9:g.33481073_33481074insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA, NC_000019.9:g.33481073_33481074insAAAGAAAGAAAGAAAGAGAGAA, NC_000019.9:g.33481073_33481074insAAAGAAAGAAAGAAGGAAAGAAAGAAAGAA, NC_000019.9:g.33481073_33481074insAGAA, NC_000019.9:g.33481073_33481074insAGAAAGAAAGAA

Select item 149142974610.

rs1491429746 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 19:33019048 (GRCh38)
19:33509954 (GRCh37)
Canonical SPDI:: NC_000019.10:33019046:AGA:A
Gene:: RHPN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00008/1 (ALFA)
HGVS:: NC_000019.10:g.33019048_33019049del, NC_000019.9:g.33509954_33509955del

Select item 149137619211.

rs1491376192 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:33034783 (GRCh38)
19:33525689 (GRCh37)
Canonical SPDI:: NC_000019.10:33034782:CA:
Gene:: RHPN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00042/5 (ALFA)
HGVS:: NC_000019.10:g.33034783_33034784del, NC_000019.9:g.33525689_33525690del

Select item 149136392612.

rs1491363926 has merged into rs36036417 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 19:33028166 (GRCh38)
19:33519072 (GRCh37)
Canonical SPDI:: NC_000019.10:33028156:TTTTTTTTTTTTTTT:TTTTTTTTT,NC_000019.10:33028156:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:33028156:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:33028156:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:33028156:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:33028156:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:33028156:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:33028156:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
Gene:: RHPN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.3918/1962 (1000Genomes)
HGVS:: NC_000019.10:g.33028166_33028171del, NC_000019.10:g.33028170_33028171del, NC_000019.10:g.33028171del, NC_000019.10:g.33028171dup, NC_000019.10:g.33028170_33028171dup, NC_000019.10:g.33028169_33028171dup, NC_000019.10:g.33028168_33028171dup, NC_000019.10:g.33028167_33028171dup, NC_000019.9:g.33519072_33519077del, NC_000019.9:g.33519076_33519077del, NC_000019.9:g.33519077del, NC_000019.9:g.33519077dup, NC_000019.9:g.33519076_33519077dup, NC_000019.9:g.33519075_33519077dup, NC_000019.9:g.33519074_33519077dup, NC_000019.9:g.33519073_33519077dup

Select item 149133568813.

rs1491335688 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 19:33038182 (GRCh38)
19:33529088 (GRCh37)
Canonical SPDI:: NC_000019.10:33038177:CTCTCT:CTCT
Gene:: RHPN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CTCT=0./0 (ALFA)
-=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.33038178CT[2], NC_000019.9:g.33529084CT[2]

Select item 149131631514.

rs1491316315 has merged into rs3214610 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 19:33007909 (GRCh38)
19:33498815 (GRCh37)
Canonical SPDI:: NC_000019.10:33007907:TCT:T
Gene:: RHPN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.18656/2213 (ALFA)
-=0.21725/1088 (1000Genomes)
HGVS:: NC_000019.10:g.33007909_33007910del, NC_000019.9:g.33498815_33498816del

Select item 149131536915.

rs1491315369 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 19:33028157 (GRCh38)
19:33519064 (GRCh37)
Canonical SPDI:: NC_000019.10:33028157::C
Gene:: RHPN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.33028157_33028158insC, NC_000019.9:g.33519063_33519064insC

Select item 149131148816.

rs1491311488 has merged into rs200201106 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 19:32986808 (GRCh38)
19:33477714 (GRCh37)
Canonical SPDI:: NC_000019.10:32986793:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:32986793:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:32986793:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:32986793:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:32986793:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:32986793:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: RHPN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000019.10:g.32986808_32986811del, NC_000019.10:g.32986809_32986811del, NC_000019.10:g.32986810_32986811del, NC_000019.10:g.32986811del, NC_000019.10:g.32986811dup, NC_000019.10:g.32986810_32986811dup, NC_000019.9:g.33477714_33477717del, NC_000019.9:g.33477715_33477717del, NC_000019.9:g.33477716_33477717del, NC_000019.9:g.33477717del, NC_000019.9:g.33477717dup, NC_000019.9:g.33477716_33477717dup

Select item 149129469917.

rs1491294699 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 19:32990161 (GRCh38)
19:33481067 (GRCh37)
Canonical SPDI:: NC_000019.10:32990159:AGA:A
Gene:: RHPN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.32990161_32990162del, NC_000019.9:g.33481067_33481068del

Select item 149125663918.

rs1491256639 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: 19:32988213 (GRCh38)
19:33479120 (GRCh37)
Canonical SPDI:: NC_000019.10:32988213:A:ACA
Gene:: RHPN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACA=0./0 (ALFA)
AC=0.000883/111 (GnomAD)
AC=0.002222/37 (TOMMO)
HGVS:: NC_000019.10:g.32988214_32988215insCA, NC_000019.9:g.33479120_33479121insCA

Select item 149122208119.

rs1491222081 has merged into rs35958619 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTTTTTTTT [Show Flanks]
Chromosome:: 19:32997499 (GRCh38)
19:33488405 (GRCh37)
Canonical SPDI:: NC_000019.10:32997489:TTTTTTTTTTT:TTTTTTTTT,NC_000019.10:32997489:TTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:32997489:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:32997489:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: RHPN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
T=0.1869/936 (1000Genomes)
T=0.2483/957 (ALSPAC)
T=0.2575/154 (NorthernSweden)
T=0.2586/959 (TWINSUK)
T=0.2725/272 (GoNL)
HGVS:: NC_000019.10:g.32997499_32997500del, NC_000019.10:g.32997500del, NC_000019.10:g.32997500dup, NC_000019.10:g.32997493_32997500dup, NC_000019.9:g.33488405_33488406del, NC_000019.9:g.33488406del, NC_000019.9:g.33488406dup, NC_000019.9:g.33488399_33488406dup

Select item 149120888320.

rs1491208883 [Homo sapiens]

Variant type:: INS
Alleles:: ->GG [Show Flanks]
Chromosome:: 19:33038178 (GRCh38)
19:33529085 (GRCh37)
Canonical SPDI:: NC_000019.10:33038178::GG
Gene:: RHPN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
GG=0.000214/30 (GnomAD)
HGVS:: NC_000019.10:g.33038178_33038179insGG, NC_000019.9:g.33529084_33529085insGG

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