Name: rs35814774
Published: September 21, 2022
License: Open Access

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs35814774

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr21:33473458-33473478 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: del(A)₁₁ / del(A)₁₀ / del(A)₉ / de…
del(A)₁₁ / del(A)₁₀ / del(A)₉ / del(A)₈ / del(A)₇ / del(A)₆ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄ / dup(A)₅ / dup(A)₆ / dup(A)₇ / dup(A)₁₅ / dup(A)₁₉
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₁₁=0.0000 (0/7448, ALFA)
del(A)₁₀=0.0000 (0/7448, ALFA)
del(A)₉=0.0000 (0/7448, ALFA) (+ 9 more)
del(A)₈=0.0000 (0/7448, ALFA)
del(A)₇=0.0000 (0/7448, ALFA)
del(A)₆=0.0000 (0/7448, ALFA)
del(A)₅=0.0000 (0/7448, ALFA)
del(A)₄=0.0000 (0/7448, ALFA)
delAA=0.0000 (0/7448, ALFA)
delA=0.0000 (0/7448, ALFA)
dupA=0.0000 (0/7448, ALFA)
dupAA=0.0000 (0/7448, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: TMEM50B : Intron Variant
Publications: 0 citations
Genomic View: See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	HWEP
Total	Global	7448	AAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
European	Sub	4796	AAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
African	Sub	2038	AAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
African Others	Sub	82	AAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
African American	Sub	1956	AAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
Asian	Sub	68	AAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
East Asian	Sub	60	AAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other Asian	Sub	8	AAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	N/A
Latin American 1	Sub	70	AAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Latin American 2	Sub	184	AAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
South Asian	Sub	36	AAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other	Sub	256	AAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	7448	(A)₂₁=1.0000	del(A)₁₁=0.0000, del(A)₁₀=0.0000, del(A)₉=0.0000, del(A)₈=0.0000, del(A)₇=0.0000, del(A)₆=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000
Allele Frequency Aggregator	European	Sub	4796	(A)₂₁=1.0000	del(A)₁₁=0.0000, del(A)₁₀=0.0000, del(A)₉=0.0000, del(A)₈=0.0000, del(A)₇=0.0000, del(A)₆=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000
Allele Frequency Aggregator	African	Sub	2038	(A)₂₁=1.0000	del(A)₁₁=0.0000, del(A)₁₀=0.0000, del(A)₉=0.0000, del(A)₈=0.0000, del(A)₇=0.0000, del(A)₆=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000
Allele Frequency Aggregator	Other	Sub	256	(A)₂₁=1.000	del(A)₁₁=0.000, del(A)₁₀=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator	Latin American 2	Sub	184	(A)₂₁=1.000	del(A)₁₁=0.000, del(A)₁₀=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator	Latin American 1	Sub	70	(A)₂₁=1.00	del(A)₁₁=0.00, del(A)₁₀=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₅=0.00, del(A)₄=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00
Allele Frequency Aggregator	Asian	Sub	68	(A)₂₁=1.00	del(A)₁₁=0.00, del(A)₁₀=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₅=0.00, del(A)₄=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00
Allele Frequency Aggregator	South Asian	Sub	36	(A)₂₁=1.00	del(A)₁₁=0.00, del(A)₁₀=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₅=0.00, del(A)₄=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 21	NC_000021.9:g.33473468_33473478del
GRCh38.p14 chr 21	NC_000021.9:g.33473469_33473478del
GRCh38.p14 chr 21	NC_000021.9:g.33473470_33473478del
GRCh38.p14 chr 21	NC_000021.9:g.33473471_33473478del
GRCh38.p14 chr 21	NC_000021.9:g.33473472_33473478del
GRCh38.p14 chr 21	NC_000021.9:g.33473473_33473478del
GRCh38.p14 chr 21	NC_000021.9:g.33473474_33473478del
GRCh38.p14 chr 21	NC_000021.9:g.33473475_33473478del
GRCh38.p14 chr 21	NC_000021.9:g.33473476_33473478del
GRCh38.p14 chr 21	NC_000021.9:g.33473477_33473478del
GRCh38.p14 chr 21	NC_000021.9:g.33473478del
GRCh38.p14 chr 21	NC_000021.9:g.33473478dup
GRCh38.p14 chr 21	NC_000021.9:g.33473477_33473478dup
GRCh38.p14 chr 21	NC_000021.9:g.33473476_33473478dup
GRCh38.p14 chr 21	NC_000021.9:g.33473475_33473478dup
GRCh38.p14 chr 21	NC_000021.9:g.33473474_33473478dup
GRCh38.p14 chr 21	NC_000021.9:g.33473473_33473478dup
GRCh38.p14 chr 21	NC_000021.9:g.33473472_33473478dup
GRCh38.p14 chr 21	NC_000021.9:g.33473464_33473478dup
GRCh38.p14 chr 21	NC_000021.9:g.33473460_33473478dup
GRCh37.p13 chr 21	NC_000021.8:g.34845775_34845785del
GRCh37.p13 chr 21	NC_000021.8:g.34845776_34845785del
GRCh37.p13 chr 21	NC_000021.8:g.34845777_34845785del
GRCh37.p13 chr 21	NC_000021.8:g.34845778_34845785del
GRCh37.p13 chr 21	NC_000021.8:g.34845779_34845785del
GRCh37.p13 chr 21	NC_000021.8:g.34845780_34845785del
GRCh37.p13 chr 21	NC_000021.8:g.34845781_34845785del
GRCh37.p13 chr 21	NC_000021.8:g.34845782_34845785del
GRCh37.p13 chr 21	NC_000021.8:g.34845783_34845785del
GRCh37.p13 chr 21	NC_000021.8:g.34845784_34845785del
GRCh37.p13 chr 21	NC_000021.8:g.34845785del
GRCh37.p13 chr 21	NC_000021.8:g.34845785dup
GRCh37.p13 chr 21	NC_000021.8:g.34845784_34845785dup
GRCh37.p13 chr 21	NC_000021.8:g.34845783_34845785dup
GRCh37.p13 chr 21	NC_000021.8:g.34845782_34845785dup
GRCh37.p13 chr 21	NC_000021.8:g.34845781_34845785dup
GRCh37.p13 chr 21	NC_000021.8:g.34845780_34845785dup
GRCh37.p13 chr 21	NC_000021.8:g.34845779_34845785dup
GRCh37.p13 chr 21	NC_000021.8:g.34845771_34845785dup
GRCh37.p13 chr 21	NC_000021.8:g.34845767_34845785dup
IFNGR2 RefSeqGene (LRG_67)	NG_007570.2:g.93477_93487del
IFNGR2 RefSeqGene (LRG_67)	NG_007570.2:g.93478_93487del
IFNGR2 RefSeqGene (LRG_67)	NG_007570.2:g.93479_93487del
IFNGR2 RefSeqGene (LRG_67)	NG_007570.2:g.93480_93487del
IFNGR2 RefSeqGene (LRG_67)	NG_007570.2:g.93481_93487del
IFNGR2 RefSeqGene (LRG_67)	NG_007570.2:g.93482_93487del
IFNGR2 RefSeqGene (LRG_67)	NG_007570.2:g.93483_93487del
IFNGR2 RefSeqGene (LRG_67)	NG_007570.2:g.93484_93487del
IFNGR2 RefSeqGene (LRG_67)	NG_007570.2:g.93485_93487del
IFNGR2 RefSeqGene (LRG_67)	NG_007570.2:g.93486_93487del
IFNGR2 RefSeqGene (LRG_67)	NG_007570.2:g.93487del
IFNGR2 RefSeqGene (LRG_67)	NG_007570.2:g.93487dup
IFNGR2 RefSeqGene (LRG_67)	NG_007570.2:g.93486_93487dup
IFNGR2 RefSeqGene (LRG_67)	NG_007570.2:g.93485_93487dup
IFNGR2 RefSeqGene (LRG_67)	NG_007570.2:g.93484_93487dup
IFNGR2 RefSeqGene (LRG_67)	NG_007570.2:g.93483_93487dup
IFNGR2 RefSeqGene (LRG_67)	NG_007570.2:g.93482_93487dup
IFNGR2 RefSeqGene (LRG_67)	NG_007570.2:g.93481_93487dup
IFNGR2 RefSeqGene (LRG_67)	NG_007570.2:g.93473_93487dup
IFNGR2 RefSeqGene (LRG_67)	NG_007570.2:g.93469_93487dup
GRCh38.p14 chr 21 alt locus HSCHR21_4_CTG1_1	NW_003315970.2:g.68065dup
GRCh38.p14 chr 21 alt locus HSCHR21_4_CTG1_1	NW_003315970.2:g.68056_68065del
GRCh38.p14 chr 21 alt locus HSCHR21_4_CTG1_1	NW_003315970.2:g.68057_68065del
GRCh38.p14 chr 21 alt locus HSCHR21_4_CTG1_1	NW_003315970.2:g.68058_68065del
GRCh38.p14 chr 21 alt locus HSCHR21_4_CTG1_1	NW_003315970.2:g.68059_68065del
GRCh38.p14 chr 21 alt locus HSCHR21_4_CTG1_1	NW_003315970.2:g.68060_68065del
GRCh38.p14 chr 21 alt locus HSCHR21_4_CTG1_1	NW_003315970.2:g.68061_68065del
GRCh38.p14 chr 21 alt locus HSCHR21_4_CTG1_1	NW_003315970.2:g.68062_68065del
GRCh38.p14 chr 21 alt locus HSCHR21_4_CTG1_1	NW_003315970.2:g.68063_68065del
GRCh38.p14 chr 21 alt locus HSCHR21_4_CTG1_1	NW_003315970.2:g.68064_68065del
GRCh38.p14 chr 21 alt locus HSCHR21_4_CTG1_1	NW_003315970.2:g.68065del
GRCh38.p14 chr 21 alt locus HSCHR21_4_CTG1_1	NW_003315970.2:g.68064_68065dup
GRCh38.p14 chr 21 alt locus HSCHR21_4_CTG1_1	NW_003315970.2:g.68063_68065dup
GRCh38.p14 chr 21 alt locus HSCHR21_4_CTG1_1	NW_003315970.2:g.68062_68065dup
GRCh38.p14 chr 21 alt locus HSCHR21_4_CTG1_1	NW_003315970.2:g.68061_68065dup
GRCh38.p14 chr 21 alt locus HSCHR21_4_CTG1_1	NW_003315970.2:g.68060_68065dup
GRCh38.p14 chr 21 alt locus HSCHR21_4_CTG1_1	NW_003315970.2:g.68059_68065dup
GRCh38.p14 chr 21 alt locus HSCHR21_4_CTG1_1	NW_003315970.2:g.68058_68065dup
GRCh38.p14 chr 21 alt locus HSCHR21_4_CTG1_1	NW_003315970.2:g.68050_68065dup
GRCh38.p14 chr 21 alt locus HSCHR21_4_CTG1_1	NW_003315970.2:g.68046_68065dup
GRCh37.p13 chr 21 novel patch HSCHR21_4_CTG1_1	NW_003315970.1:g.68066dup
GRCh37.p13 chr 21 novel patch HSCHR21_4_CTG1_1	NW_003315970.1:g.68057_68066del
GRCh37.p13 chr 21 novel patch HSCHR21_4_CTG1_1	NW_003315970.1:g.68058_68066del
GRCh37.p13 chr 21 novel patch HSCHR21_4_CTG1_1	NW_003315970.1:g.68059_68066del
GRCh37.p13 chr 21 novel patch HSCHR21_4_CTG1_1	NW_003315970.1:g.68060_68066del
GRCh37.p13 chr 21 novel patch HSCHR21_4_CTG1_1	NW_003315970.1:g.68061_68066del
GRCh37.p13 chr 21 novel patch HSCHR21_4_CTG1_1	NW_003315970.1:g.68062_68066del
GRCh37.p13 chr 21 novel patch HSCHR21_4_CTG1_1	NW_003315970.1:g.68063_68066del
GRCh37.p13 chr 21 novel patch HSCHR21_4_CTG1_1	NW_003315970.1:g.68064_68066del
GRCh37.p13 chr 21 novel patch HSCHR21_4_CTG1_1	NW_003315970.1:g.68065_68066del
GRCh37.p13 chr 21 novel patch HSCHR21_4_CTG1_1	NW_003315970.1:g.68066del
GRCh37.p13 chr 21 novel patch HSCHR21_4_CTG1_1	NW_003315970.1:g.68065_68066dup
GRCh37.p13 chr 21 novel patch HSCHR21_4_CTG1_1	NW_003315970.1:g.68064_68066dup
GRCh37.p13 chr 21 novel patch HSCHR21_4_CTG1_1	NW_003315970.1:g.68063_68066dup
GRCh37.p13 chr 21 novel patch HSCHR21_4_CTG1_1	NW_003315970.1:g.68062_68066dup
GRCh37.p13 chr 21 novel patch HSCHR21_4_CTG1_1	NW_003315970.1:g.68061_68066dup
GRCh37.p13 chr 21 novel patch HSCHR21_4_CTG1_1	NW_003315970.1:g.68060_68066dup
GRCh37.p13 chr 21 novel patch HSCHR21_4_CTG1_1	NW_003315970.1:g.68059_68066dup
GRCh37.p13 chr 21 novel patch HSCHR21_4_CTG1_1	NW_003315970.1:g.68051_68066dup
GRCh37.p13 chr 21 novel patch HSCHR21_4_CTG1_1	NW_003315970.1:g.68047_68066dup

Gene: TMEM50B, transmembrane protein 50B (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
TMEM50B transcript variant 1	NM_006134.7:c.-41-4542_-4… NM_006134.7:c.-41-4542_-41-4532del	N/A	Intron Variant
TMEM50B transcript variant 2	NR_040016.2:n.	N/A	Intron Variant
TMEM50B transcript variant X1	XM_011529746.3:c.-41-4542… XM_011529746.3:c.-41-4542_-41-4532del	N/A	Intron Variant
TMEM50B transcript variant X2	XM_047440988.1:c.-41-4542… XM_047440988.1:c.-41-4542_-41-4532del	N/A	Intron Variant
TMEM50B transcript variant X3	XM_047440989.1:c.-41-4542… XM_047440989.1:c.-41-4542_-41-4532del	N/A	Intron Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	(A)₂₁=	del(A)₁₁	del(A)₁₀	del(A)₉	del(A)₈	del(A)₇	del(A)₆	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄	dup(A)₅	dup(A)₆	dup(A)₇	dup(A)₁₅	dup(A)₁₉
GRCh38.p14 chr 21	NC_000021.9:g.33473458_33473478=	NC_000021.9:g.33473468_33473478del	NC_000021.9:g.33473469_33473478del	NC_000021.9:g.33473470_33473478del	NC_000021.9:g.33473471_33473478del	NC_000021.9:g.33473472_33473478del	NC_000021.9:g.33473473_33473478del	NC_000021.9:g.33473474_33473478del	NC_000021.9:g.33473475_33473478del	NC_000021.9:g.33473476_33473478del	NC_000021.9:g.33473477_33473478del	NC_000021.9:g.33473478del	NC_000021.9:g.33473478dup	NC_000021.9:g.33473477_33473478dup	NC_000021.9:g.33473476_33473478dup	NC_000021.9:g.33473475_33473478dup	NC_000021.9:g.33473474_33473478dup	NC_000021.9:g.33473473_33473478dup	NC_000021.9:g.33473472_33473478dup	NC_000021.9:g.33473464_33473478dup	NC_000021.9:g.33473460_33473478dup
GRCh37.p13 chr 21	NC_000021.8:g.34845765_34845785=	NC_000021.8:g.34845775_34845785del	NC_000021.8:g.34845776_34845785del	NC_000021.8:g.34845777_34845785del	NC_000021.8:g.34845778_34845785del	NC_000021.8:g.34845779_34845785del	NC_000021.8:g.34845780_34845785del	NC_000021.8:g.34845781_34845785del	NC_000021.8:g.34845782_34845785del	NC_000021.8:g.34845783_34845785del	NC_000021.8:g.34845784_34845785del	NC_000021.8:g.34845785del	NC_000021.8:g.34845785dup	NC_000021.8:g.34845784_34845785dup	NC_000021.8:g.34845783_34845785dup	NC_000021.8:g.34845782_34845785dup	NC_000021.8:g.34845781_34845785dup	NC_000021.8:g.34845780_34845785dup	NC_000021.8:g.34845779_34845785dup	NC_000021.8:g.34845771_34845785dup	NC_000021.8:g.34845767_34845785dup
IFNGR2 RefSeqGene (LRG_67)	NG_007570.2:g.93467_93487=	NG_007570.2:g.93477_93487del	NG_007570.2:g.93478_93487del	NG_007570.2:g.93479_93487del	NG_007570.2:g.93480_93487del	NG_007570.2:g.93481_93487del	NG_007570.2:g.93482_93487del	NG_007570.2:g.93483_93487del	NG_007570.2:g.93484_93487del	NG_007570.2:g.93485_93487del	NG_007570.2:g.93486_93487del	NG_007570.2:g.93487del	NG_007570.2:g.93487dup	NG_007570.2:g.93486_93487dup	NG_007570.2:g.93485_93487dup	NG_007570.2:g.93484_93487dup	NG_007570.2:g.93483_93487dup	NG_007570.2:g.93482_93487dup	NG_007570.2:g.93481_93487dup	NG_007570.2:g.93473_93487dup	NG_007570.2:g.93469_93487dup
GRCh38.p14 chr 21 alt locus HSCHR21_4_CTG1_1	NW_003315970.2:g.68065dup	NW_003315970.2:g.68056_68065del	NW_003315970.2:g.68057_68065del	NW_003315970.2:g.68058_68065del	NW_003315970.2:g.68059_68065del	NW_003315970.2:g.68060_68065del	NW_003315970.2:g.68061_68065del	NW_003315970.2:g.68062_68065del	NW_003315970.2:g.68063_68065del	NW_003315970.2:g.68064_68065del	NW_003315970.2:g.68065del	NW_003315970.2:g.68046_68065=	NW_003315970.2:g.68064_68065dup	NW_003315970.2:g.68063_68065dup	NW_003315970.2:g.68062_68065dup	NW_003315970.2:g.68061_68065dup	NW_003315970.2:g.68060_68065dup	NW_003315970.2:g.68059_68065dup	NW_003315970.2:g.68058_68065dup	NW_003315970.2:g.68050_68065dup	NW_003315970.2:g.68046_68065dup
GRCh37.p13 chr 21 novel patch HSCHR21_4_CTG1_1	NW_003315970.1:g.68066dup	NW_003315970.1:g.68057_68066del	NW_003315970.1:g.68058_68066del	NW_003315970.1:g.68059_68066del	NW_003315970.1:g.68060_68066del	NW_003315970.1:g.68061_68066del	NW_003315970.1:g.68062_68066del	NW_003315970.1:g.68063_68066del	NW_003315970.1:g.68064_68066del	NW_003315970.1:g.68065_68066del	NW_003315970.1:g.68066del	NW_003315970.1:g.68047_68066=	NW_003315970.1:g.68065_68066dup	NW_003315970.1:g.68064_68066dup	NW_003315970.1:g.68063_68066dup	NW_003315970.1:g.68062_68066dup	NW_003315970.1:g.68061_68066dup	NW_003315970.1:g.68060_68066dup	NW_003315970.1:g.68059_68066dup	NW_003315970.1:g.68051_68066dup	NW_003315970.1:g.68047_68066dup
TMEM50B transcript variant 1	NM_006134.6:c.-41-4532=	NM_006134.6:c.-41-4542_-41-4532del	NM_006134.6:c.-41-4541_-41-4532del	NM_006134.6:c.-41-4540_-41-4532del	NM_006134.6:c.-41-4539_-41-4532del	NM_006134.6:c.-41-4538_-41-4532del	NM_006134.6:c.-41-4537_-41-4532del	NM_006134.6:c.-41-4536_-41-4532del	NM_006134.6:c.-41-4535_-41-4532del	NM_006134.6:c.-41-4534_-41-4532del	NM_006134.6:c.-41-4533_-41-4532del	NM_006134.6:c.-41-4532del	NM_006134.6:c.-41-4532dup	NM_006134.6:c.-41-4533_-41-4532dup	NM_006134.6:c.-41-4534_-41-4532dup	NM_006134.6:c.-41-4535_-41-4532dup	NM_006134.6:c.-41-4536_-41-4532dup	NM_006134.6:c.-41-4537_-41-4532dup	NM_006134.6:c.-41-4538_-41-4532dup	NM_006134.6:c.-41-4546_-41-4532dup	NM_006134.6:c.-41-4550_-41-4532dup
TMEM50B transcript variant 1	NM_006134.7:c.-41-4532=	NM_006134.7:c.-41-4542_-41-4532del	NM_006134.7:c.-41-4541_-41-4532del	NM_006134.7:c.-41-4540_-41-4532del	NM_006134.7:c.-41-4539_-41-4532del	NM_006134.7:c.-41-4538_-41-4532del	NM_006134.7:c.-41-4537_-41-4532del	NM_006134.7:c.-41-4536_-41-4532del	NM_006134.7:c.-41-4535_-41-4532del	NM_006134.7:c.-41-4534_-41-4532del	NM_006134.7:c.-41-4533_-41-4532del	NM_006134.7:c.-41-4532del	NM_006134.7:c.-41-4532dup	NM_006134.7:c.-41-4533_-41-4532dup	NM_006134.7:c.-41-4534_-41-4532dup	NM_006134.7:c.-41-4535_-41-4532dup	NM_006134.7:c.-41-4536_-41-4532dup	NM_006134.7:c.-41-4537_-41-4532dup	NM_006134.7:c.-41-4538_-41-4532dup	NM_006134.7:c.-41-4546_-41-4532dup	NM_006134.7:c.-41-4550_-41-4532dup
TMEM50B transcript variant X1	XM_011529746.3:c.-41-4532=	XM_011529746.3:c.-41-4542_-41-4532del	XM_011529746.3:c.-41-4541_-41-4532del	XM_011529746.3:c.-41-4540_-41-4532del	XM_011529746.3:c.-41-4539_-41-4532del	XM_011529746.3:c.-41-4538_-41-4532del	XM_011529746.3:c.-41-4537_-41-4532del	XM_011529746.3:c.-41-4536_-41-4532del	XM_011529746.3:c.-41-4535_-41-4532del	XM_011529746.3:c.-41-4534_-41-4532del	XM_011529746.3:c.-41-4533_-41-4532del	XM_011529746.3:c.-41-4532del	XM_011529746.3:c.-41-4532dup	XM_011529746.3:c.-41-4533_-41-4532dup	XM_011529746.3:c.-41-4534_-41-4532dup	XM_011529746.3:c.-41-4535_-41-4532dup	XM_011529746.3:c.-41-4536_-41-4532dup	XM_011529746.3:c.-41-4537_-41-4532dup	XM_011529746.3:c.-41-4538_-41-4532dup	XM_011529746.3:c.-41-4546_-41-4532dup	XM_011529746.3:c.-41-4550_-41-4532dup
TMEM50B transcript variant X2	XM_047440988.1:c.-41-4532=	XM_047440988.1:c.-41-4542_-41-4532del	XM_047440988.1:c.-41-4541_-41-4532del	XM_047440988.1:c.-41-4540_-41-4532del	XM_047440988.1:c.-41-4539_-41-4532del	XM_047440988.1:c.-41-4538_-41-4532del	XM_047440988.1:c.-41-4537_-41-4532del	XM_047440988.1:c.-41-4536_-41-4532del	XM_047440988.1:c.-41-4535_-41-4532del	XM_047440988.1:c.-41-4534_-41-4532del	XM_047440988.1:c.-41-4533_-41-4532del	XM_047440988.1:c.-41-4532del	XM_047440988.1:c.-41-4532dup	XM_047440988.1:c.-41-4533_-41-4532dup	XM_047440988.1:c.-41-4534_-41-4532dup	XM_047440988.1:c.-41-4535_-41-4532dup	XM_047440988.1:c.-41-4536_-41-4532dup	XM_047440988.1:c.-41-4537_-41-4532dup	XM_047440988.1:c.-41-4538_-41-4532dup	XM_047440988.1:c.-41-4546_-41-4532dup	XM_047440988.1:c.-41-4550_-41-4532dup
TMEM50B transcript variant X3	XM_047440989.1:c.-41-4532=	XM_047440989.1:c.-41-4542_-41-4532del	XM_047440989.1:c.-41-4541_-41-4532del	XM_047440989.1:c.-41-4540_-41-4532del	XM_047440989.1:c.-41-4539_-41-4532del	XM_047440989.1:c.-41-4538_-41-4532del	XM_047440989.1:c.-41-4537_-41-4532del	XM_047440989.1:c.-41-4536_-41-4532del	XM_047440989.1:c.-41-4535_-41-4532del	XM_047440989.1:c.-41-4534_-41-4532del	XM_047440989.1:c.-41-4533_-41-4532del	XM_047440989.1:c.-41-4532del	XM_047440989.1:c.-41-4532dup	XM_047440989.1:c.-41-4533_-41-4532dup	XM_047440989.1:c.-41-4534_-41-4532dup	XM_047440989.1:c.-41-4535_-41-4532dup	XM_047440989.1:c.-41-4536_-41-4532dup	XM_047440989.1:c.-41-4537_-41-4532dup	XM_047440989.1:c.-41-4538_-41-4532dup	XM_047440989.1:c.-41-4546_-41-4532dup	XM_047440989.1:c.-41-4550_-41-4532dup

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

53 SubSNP, 30 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss41471163	Mar 15, 2006 (126)
2	HGSV	ss77982160	Dec 06, 2007 (129)
3	HGSV	ss77988906	Dec 06, 2007 (129)
4	HUMANGENOME_JCVI	ss95750416	Feb 04, 2009 (130)
5	HUMANGENOME_JCVI	ss96177612	Feb 13, 2009 (137)
6	PJP	ss295066482	May 09, 2011 (137)
7	PJP	ss295066483	May 09, 2011 (134)
8	SSIP	ss947411289	Aug 21, 2014 (142)
9	SWEGEN	ss3018840532	Nov 08, 2017 (151)
10	URBANLAB	ss3651107964	Oct 12, 2018 (152)
11	EVA_DECODE	ss3707669447	Jul 13, 2019 (153)
12	EVA_DECODE	ss3707669448	Jul 13, 2019 (153)
13	EVA_DECODE	ss3707669449	Jul 13, 2019 (153)
14	EVA_DECODE	ss3707669450	Jul 13, 2019 (153)
15	EVA_DECODE	ss3707669451	Jul 13, 2019 (153)
16	PACBIO	ss3793628670	Jul 13, 2019 (153)
17	PACBIO	ss3793628671	Jul 13, 2019 (153)
18	PACBIO	ss3798514865	Jul 13, 2019 (153)
19	PACBIO	ss3798514866	Jul 13, 2019 (153)
20	EVA	ss3835857833	Apr 27, 2020 (154)
21	GNOMAD	ss4359818523	Apr 27, 2021 (155)
22	GNOMAD	ss4359818524	Apr 27, 2021 (155)
23	GNOMAD	ss4359818525	Apr 27, 2021 (155)
24	GNOMAD	ss4359818526	Apr 27, 2021 (155)
25	GNOMAD	ss4359818527	Apr 27, 2021 (155)
26	GNOMAD	ss4359818528	Apr 27, 2021 (155)
27	GNOMAD	ss4359818529	Apr 27, 2021 (155)
28	GNOMAD	ss4359818530	Apr 27, 2021 (155)
29	GNOMAD	ss4359818531	Apr 27, 2021 (155)
30	GNOMAD	ss4359818533	Apr 27, 2021 (155)
31	GNOMAD	ss4359818534	Apr 27, 2021 (155)
32	GNOMAD	ss4359818535	Apr 27, 2021 (155)
33	GNOMAD	ss4359818536	Apr 27, 2021 (155)
34	GNOMAD	ss4359818537	Apr 27, 2021 (155)
35	GNOMAD	ss4359818538	Apr 27, 2021 (155)
36	GNOMAD	ss4359818539	Apr 27, 2021 (155)
37	GNOMAD	ss4359818540	Apr 27, 2021 (155)
38	GNOMAD	ss4359818541	Apr 27, 2021 (155)
39	TOPMED	ss5100593589	Apr 27, 2021 (155)
40	TOPMED	ss5100593590	Apr 27, 2021 (155)
41	TOPMED	ss5100593591	Apr 27, 2021 (155)
42	TOMMO_GENOMICS	ss5231394149	Apr 27, 2021 (155)
43	TOMMO_GENOMICS	ss5231394150	Apr 27, 2021 (155)
44	TOMMO_GENOMICS	ss5231394151	Apr 27, 2021 (155)
45	TOMMO_GENOMICS	ss5231394152	Apr 27, 2021 (155)
46	1000G_HIGH_COVERAGE	ss5310112639	Oct 13, 2022 (156)
47	HUGCELL_USP	ss5502169434	Oct 13, 2022 (156)
48	HUGCELL_USP	ss5502169435	Oct 13, 2022 (156)
49	HUGCELL_USP	ss5502169436	Oct 13, 2022 (156)
50	HUGCELL_USP	ss5502169437	Oct 13, 2022 (156)
51	TOMMO_GENOMICS	ss5791870347	Oct 13, 2022 (156)
52	TOMMO_GENOMICS	ss5791870349	Oct 13, 2022 (156)
53	TOMMO_GENOMICS	ss5791870350	Oct 13, 2022 (156)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 562352213 (NC_000021.9:33473457::A 9257/78250) Row 562352214 (NC_000021.9:33473457::AA 33/78262) Row 562352215 (NC_000021.9:33473457::AAA 11/78244)...	-	Apr 27, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 562352213 (NC_000021.9:33473457::A 9257/78250) Row 562352214 (NC_000021.9:33473457::AA 33/78262) Row 562352215 (NC_000021.9:33473457::AAA 11/78244)...	-	Apr 27, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 562352213 (NC_000021.9:33473457::A 9257/78250) Row 562352214 (NC_000021.9:33473457::AA 33/78262) Row 562352215 (NC_000021.9:33473457::AAA 11/78244)...	-	Apr 27, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 562352213 (NC_000021.9:33473457::A 9257/78250) Row 562352214 (NC_000021.9:33473457::AA 33/78262) Row 562352215 (NC_000021.9:33473457::AAA 11/78244)...	-	Apr 27, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 562352213 (NC_000021.9:33473457::A 9257/78250) Row 562352214 (NC_000021.9:33473457::AA 33/78262) Row 562352215 (NC_000021.9:33473457::AAA 11/78244)...	-	Apr 27, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 562352213 (NC_000021.9:33473457::A 9257/78250) Row 562352214 (NC_000021.9:33473457::AA 33/78262) Row 562352215 (NC_000021.9:33473457::AAA 11/78244)...	-	Apr 27, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 562352213 (NC_000021.9:33473457::A 9257/78250) Row 562352214 (NC_000021.9:33473457::AA 33/78262) Row 562352215 (NC_000021.9:33473457::AAA 11/78244)...	-	Apr 27, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 562352213 (NC_000021.9:33473457::A 9257/78250) Row 562352214 (NC_000021.9:33473457::AA 33/78262) Row 562352215 (NC_000021.9:33473457::AAA 11/78244)...	-	Apr 27, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 562352213 (NC_000021.9:33473457::A 9257/78250) Row 562352214 (NC_000021.9:33473457::AA 33/78262) Row 562352215 (NC_000021.9:33473457::AAA 11/78244)...	-	Apr 27, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 562352213 (NC_000021.9:33473457::A 9257/78250) Row 562352214 (NC_000021.9:33473457::AA 33/78262) Row 562352215 (NC_000021.9:33473457::AAA 11/78244)...	-	Apr 27, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 562352213 (NC_000021.9:33473457::A 9257/78250) Row 562352214 (NC_000021.9:33473457::AA 33/78262) Row 562352215 (NC_000021.9:33473457::AAA 11/78244)...	-	Apr 27, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 562352213 (NC_000021.9:33473457::A 9257/78250) Row 562352214 (NC_000021.9:33473457::AA 33/78262) Row 562352215 (NC_000021.9:33473457::AAA 11/78244)...	-	Apr 27, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 562352213 (NC_000021.9:33473457::A 9257/78250) Row 562352214 (NC_000021.9:33473457::AA 33/78262) Row 562352215 (NC_000021.9:33473457::AAA 11/78244)...	-	Apr 27, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 562352213 (NC_000021.9:33473457::A 9257/78250) Row 562352214 (NC_000021.9:33473457::AA 33/78262) Row 562352215 (NC_000021.9:33473457::AAA 11/78244)...	-	Apr 27, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 562352213 (NC_000021.9:33473457::A 9257/78250) Row 562352214 (NC_000021.9:33473457::AA 33/78262) Row 562352215 (NC_000021.9:33473457::AAA 11/78244)...	-	Apr 27, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 562352213 (NC_000021.9:33473457::A 9257/78250) Row 562352214 (NC_000021.9:33473457::AA 33/78262) Row 562352215 (NC_000021.9:33473457::AAA 11/78244)...	-	Apr 27, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 562352213 (NC_000021.9:33473457::A 9257/78250) Row 562352214 (NC_000021.9:33473457::AA 33/78262) Row 562352215 (NC_000021.9:33473457::AAA 11/78244)...	-	Apr 27, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 562352213 (NC_000021.9:33473457::A 9257/78250) Row 562352214 (NC_000021.9:33473457::AA 33/78262) Row 562352215 (NC_000021.9:33473457::AAA 11/78244)...	-	Apr 27, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 562352213 (NC_000021.9:33473457::A 9257/78250) Row 562352214 (NC_000021.9:33473457::AA 33/78262) Row 562352215 (NC_000021.9:33473457::AAA 11/78244)...	-	Apr 27, 2021 (155)
73	8.3KJPN Submission ignored due to conflicting rows: Row 89363456 (NC_000021.8:34845764::A 2457/16532) Row 89363457 (NC_000021.8:34845764:A: 651/16532) Row 89363458 (NC_000021.8:34845764::AA 12/16532)...	-	Apr 27, 2021 (155)
74	8.3KJPN Submission ignored due to conflicting rows: Row 89363456 (NC_000021.8:34845764::A 2457/16532) Row 89363457 (NC_000021.8:34845764:A: 651/16532) Row 89363458 (NC_000021.8:34845764::AA 12/16532)...	-	Apr 27, 2021 (155)
75	8.3KJPN Submission ignored due to conflicting rows: Row 89363456 (NC_000021.8:34845764::A 2457/16532) Row 89363457 (NC_000021.8:34845764:A: 651/16532) Row 89363458 (NC_000021.8:34845764::AA 12/16532)...	-	Apr 27, 2021 (155)
76	8.3KJPN Submission ignored due to conflicting rows: Row 89363456 (NC_000021.8:34845764::A 2457/16532) Row 89363457 (NC_000021.8:34845764:A: 651/16532) Row 89363458 (NC_000021.8:34845764::AA 12/16532)...	-	Apr 27, 2021 (155)
77	14KJPN Submission ignored due to conflicting rows: Row 125707451 (NC_000021.9:33473457::A 3321/25948) Row 125707453 (NC_000021.9:33473457:A: 941/25948) Row 125707454 (NC_000021.9:33473457::AA 12/25948)	-	Oct 13, 2022 (156)
78	14KJPN Submission ignored due to conflicting rows: Row 125707451 (NC_000021.9:33473457::A 3321/25948) Row 125707453 (NC_000021.9:33473457:A: 941/25948) Row 125707454 (NC_000021.9:33473457::AA 12/25948)	-	Oct 13, 2022 (156)
79	14KJPN Submission ignored due to conflicting rows: Row 125707451 (NC_000021.9:33473457::A 3321/25948) Row 125707453 (NC_000021.9:33473457:A: 941/25948) Row 125707454 (NC_000021.9:33473457::AA 12/25948)	-	Oct 13, 2022 (156)
80	TopMed Submission ignored due to conflicting rows: Row 375702535 (NC_000021.9:33473457:AAAAAAAAA: 10/264690) Row 375702536 (NC_000021.9:33473457:AAAAAAAAAA: 2/264690) Row 375702537 (NC_000021.9:33473457:AAAAAAAAAAA: 1/264690)	-	Apr 27, 2021 (155)
81	TopMed Submission ignored due to conflicting rows: Row 375702535 (NC_000021.9:33473457:AAAAAAAAA: 10/264690) Row 375702536 (NC_000021.9:33473457:AAAAAAAAAA: 2/264690) Row 375702537 (NC_000021.9:33473457:AAAAAAAAAAA: 1/264690)	-	Apr 27, 2021 (155)
82	TopMed Submission ignored due to conflicting rows: Row 375702535 (NC_000021.9:33473457:AAAAAAAAA: 10/264690) Row 375702536 (NC_000021.9:33473457:AAAAAAAAAA: 2/264690) Row 375702537 (NC_000021.9:33473457:AAAAAAAAAAA: 1/264690)	-	Apr 27, 2021 (155)
83	ALFA	NC_000021.9 - 33473458	Apr 27, 2021 (155)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID	History Updated (Build)
rs71322218	Jul 30, 2012 (137)
rs139531576	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss5100593591	NC_000021.9:33473457:AAAAAAAAAAA:	NC_000021.9:33473457:AAAAAAAAAAAAA… NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
8208459778	NC_000021.9:33473457:AAAAAAAAAAAAA… NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	NC_000021.9:33473457:AAAAAAAAAAAAA… NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
ss4359818541, ss5100593590	NC_000021.9:33473457:AAAAAAAAAA:	NC_000021.9:33473457:AAAAAAAAAAAAA… NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
8208459778	NC_000021.9:33473457:AAAAAAAAAAAAA… NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	NC_000021.9:33473457:AAAAAAAAAAAAA… NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss4359818540, ss5100593589	NC_000021.9:33473457:AAAAAAAAA:	NC_000021.9:33473457:AAAAAAAAAAAAA… NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
8208459778	NC_000021.9:33473457:AAAAAAAAAAAAA… NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000021.9:33473457:AAAAAAAAAAAAA… NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss4359818539	NC_000021.9:33473457:AAAAAAAA:	NC_000021.9:33473457:AAAAAAAAAAAAA… NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
8208459778	NC_000021.9:33473457:AAAAAAAAAAAAA… NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000021.9:33473457:AAAAAAAAAAAAA… NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4359818538	NC_000021.9:33473457:AAAAAAA:	NC_000021.9:33473457:AAAAAAAAAAAAA… NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
8208459778	NC_000021.9:33473457:AAAAAAAAAAAAA… NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000021.9:33473457:AAAAAAAAAAAAA… NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4359818537	NC_000021.9:33473457:AAAAAA:	NC_000021.9:33473457:AAAAAAAAAAAAA… NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
8208459778	NC_000021.9:33473457:AAAAAAAAAAAAA… NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000021.9:33473457:AAAAAAAAAAAAA… NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4359818536	NC_000021.9:33473457:AAAAA:	NC_000021.9:33473457:AAAAAAAAAAAAA… NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
8208459778	NC_000021.9:33473457:AAAAAAAAAAAAA… NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000021.9:33473457:AAAAAAAAAAAAA… NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4359818535	NC_000021.9:33473457:AAAA:	NC_000021.9:33473457:AAAAAAAAAAAAA… NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
8208459778	NC_000021.9:33473457:AAAAAAAAAAAAA… NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000021.9:33473457:AAAAAAAAAAAAA… NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4359818534	NC_000021.9:33473457:AAA:	NC_000021.9:33473457:AAAAAAAAAAAAA… NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3707669451, ss4359818533, ss5502169437	NC_000021.9:33473457:AA:	NC_000021.9:33473457:AAAAAAAAAAAAA… NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
8208459778	NC_000021.9:33473457:AAAAAAAAAAAAA… NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000021.9:33473457:AAAAAAAAAAAAA… NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss295066482	NC_000021.7:33767634:A:	NC_000021.9:33473457:AAAAAAAAAAAAA… NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss77982160, ss77988906, ss295066483	NC_000021.7:33767654:A:	NC_000021.9:33473457:AAAAAAAAAAAAA… NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3018840532, ss3835857833, ss5231394150	NC_000021.8:34845764:A:	NC_000021.9:33473457:AAAAAAAAAAAAA… NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3651107964, ss5310112639, ss5502169434, ss5791870349	NC_000021.9:33473457:A:	NC_000021.9:33473457:AAAAAAAAAAAAA… NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
8208459778	NC_000021.9:33473457:AAAAAAAAAAAAA… NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000021.9:33473457:AAAAAAAAAAAAA… NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3707669450	NC_000021.9:33473458:A:	NC_000021.9:33473457:AAAAAAAAAAAAA… NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss96177612	NT_011512.11:20507654:A:	NC_000021.9:33473457:AAAAAAAAAAAAA… NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss41471163, ss95750416	NT_011512.11:20507655:A:	NC_000021.9:33473457:AAAAAAAAAAAAA… NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3793628670, ss3798514865, ss5231394149	NC_000021.8:34845764::A	NC_000021.9:33473457:AAAAAAAAAAAAA… NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss947411289	NC_000021.8:34845765::A	NC_000021.9:33473457:AAAAAAAAAAAAA… NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss4359818523, ss5502169435, ss5791870347	NC_000021.9:33473457::A	NC_000021.9:33473457:AAAAAAAAAAAAA… NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
8208459778	NC_000021.9:33473457:AAAAAAAAAAAAA… NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000021.9:33473457:AAAAAAAAAAAAA… NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss3707669449	NC_000021.9:33473459::A	NC_000021.9:33473457:AAAAAAAAAAAAA… NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss3793628671, ss3798514866, ss5231394151	NC_000021.8:34845764::AA	NC_000021.9:33473457:AAAAAAAAAAAAA… NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4359818524, ss5502169436, ss5791870350	NC_000021.9:33473457::AA	NC_000021.9:33473457:AAAAAAAAAAAAA… NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
8208459778	NC_000021.9:33473457:AAAAAAAAAAAAA… NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000021.9:33473457:AAAAAAAAAAAAA… NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3707669448	NC_000021.9:33473459::AA	NC_000021.9:33473457:AAAAAAAAAAAAA… NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4359818525	NC_000021.9:33473457::AAA	NC_000021.9:33473457:AAAAAAAAAAAAA… NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3707669447	NC_000021.9:33473459::AAA	NC_000021.9:33473457:AAAAAAAAAAAAA… NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4359818526	NC_000021.9:33473457::AAAA	NC_000021.9:33473457:AAAAAAAAAAAAA… NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4359818527	NC_000021.9:33473457::AAAAA	NC_000021.9:33473457:AAAAAAAAAAAAA… NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4359818528	NC_000021.9:33473457::AAAAAA	NC_000021.9:33473457:AAAAAAAAAAAAA… NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5231394152	NC_000021.8:34845764::AAAAAAA	NC_000021.9:33473457:AAAAAAAAAAAAA… NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4359818529	NC_000021.9:33473457::AAAAAAA	NC_000021.9:33473457:AAAAAAAAAAAAA… NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4359818530	NC_000021.9:33473457::AAAAAAAAAAAA… NC_000021.9:33473457::AAAAAAAAAAAAAAA	NC_000021.9:33473457:AAAAAAAAAAAAA… NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4359818531	NC_000021.9:33473457::AAAAAAAAAAAA… NC_000021.9:33473457::AAAAAAAAAAAAAAAAAAA	NC_000021.9:33473457:AAAAAAAAAAAAA… NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs35814774

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

Select flank length:

Genomic regions, transcripts, and products
Top▲ Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs35814774